Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7840
Gene name Gene Name - the full gene name approved by the HGNC.	ALMS1 centrosome and basal body associated protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALMS1
Synonyms (NCBI Gene) Gene synonyms aliases	ALSS
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2p13.1
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cau

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SNP ID	Visualize variation	Clinical significance	Consequence
rs35902379	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs45596541	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs58806616	A>G	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs73945001	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs77517267	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, missense variant
rs78102263	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs115444326	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Stop gained, coding sequence variant, missense variant
rs137932254	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142558799	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs148040591	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs150825781	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs188807564	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs189914793	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs193919338	C>T	Pathogenic	Coding sequence variant, stop gained
rs193919339	G>A	Pathogenic	Coding sequence variant, stop gained
rs193919340	C>T	Pathogenic	Coding sequence variant, stop gained
rs193922693	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199573929	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199874928	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199922877	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200441305	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs200459890	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200491758	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200897773	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201252375	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201390755	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201446579	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201478438	T>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201673771	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201874722	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs367877017	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs369314182	T>C,G	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs371511963	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373364340	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs374681570	G>A	Likely-pathogenic	Splice donor variant
rs375019820	C>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs376719320	G>A,T	Likely-pathogenic	Splice donor variant
rs387906312	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs387906313	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514576	G>T	Pathogenic	Coding sequence variant, stop gained
rs398122991	->GGCTTTGA	Not-provided, pathogenic	Coding sequence variant, inframe indel, stop gained
rs398122992	AGGTCTAATCAAATTAAAA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs398122993	CACA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs398122994	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs398122995	C>T	Not-provided, pathogenic	Coding sequence variant, stop gained
rs539612316	T>A	Pathogenic	Coding sequence variant, stop gained
rs549857076	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs563393715	C>A,G,T	Pathogenic, uncertain-significance, benign	Synonymous variant, stop gained, missense variant, coding sequence variant
rs746640196	C>G,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs747272625	AGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs748477695	A>G	Likely-pathogenic	Splice acceptor variant
rs748892226	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs750087396	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs750136202	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs750737346	G>A,C	Likely-pathogenic	Splice acceptor variant
rs750907119	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs751804613	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs753301358	->AGTA	Pathogenic	Frameshift variant, coding sequence variant
rs754702823	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs755616266	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs756389027	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs757139660	G>A	Likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant
rs757722767	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs758195453	C>T	Pathogenic	Stop gained, coding sequence variant
rs758952057	CTC>-	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs759603306	->AT	Pathogenic	Coding sequence variant, frameshift variant
rs760264695	->GTTA	Pathogenic	Coding sequence variant, frameshift variant
rs761071372	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs761292021	CACAGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs763048583	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs764337753	G>A,T	Likely-pathogenic	Splice acceptor variant
rs764503373	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765908556	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs766366221	G>A	Likely-pathogenic	Splice donor variant
rs767513098	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs768759374	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs769219669	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs769291842	->A,GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs769440001	C>T	Pathogenic	Coding sequence variant, stop gained
rs770264966	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs770558150	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, synonymous variant
rs771459937	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs772136379	T>C,G	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs772624348	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs773513360	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs776599992	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs777476179	A>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs778728424	->T	Likely-pathogenic	Coding sequence variant, stop gained
rs779366889	TAAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205526	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786205527	A>T	Likely-pathogenic	Splice acceptor variant
rs786205633	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797045228	->A	Pathogenic	Frameshift variant, coding sequence variant
rs878854998	->A	Pathogenic	Frameshift variant, coding sequence variant
rs878855003	->A	Pathogenic	Frameshift variant, coding sequence variant
rs904289501	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs916056435	T>C	Likely-pathogenic	Splice donor variant
rs932538480	TTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs940576720	C>T	Pathogenic	Coding sequence variant, stop gained
rs969786171	C>T	Pathogenic	Stop gained, coding sequence variant
rs989080548	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1034630858	TCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057517445	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519133	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060500034	C>GA	Pathogenic	Coding sequence variant, frameshift variant
rs1060500039	C>A,G	Pathogenic	Coding sequence variant, stop gained
rs1085307054	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1182262187	AA>A,G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1192396248	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1203193062	TACGTAGAAAAAGG>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1217507627	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1218465638	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1220975714	->TGTCTTTCCAAGATTGGAA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1225343345	GA>-	Pathogenic	Stop gained, coding sequence variant
rs1230351650	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1246023978	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1275113273	C>T	Pathogenic	Coding sequence variant, stop gained
rs1296683633	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1313101326	G>A	Likely-pathogenic	Splice acceptor variant
rs1318520999	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1347176614	T>A,C	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1361885101	G>C	Likely-pathogenic	Splice acceptor variant
rs1370417967	ATAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1412574975	A>-,AA	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1425609364	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1426009756	C>T	Pathogenic	Stop gained, coding sequence variant
rs1434010689	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs1439541639	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1457500348	TCAC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1473611414	C>T	Pathogenic	Coding sequence variant, stop gained
rs1476205467	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1490127694	C>G	Pathogenic	Stop gained, coding sequence variant
rs1553398842	TA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1553399962	->ACTAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400437	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400675	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400709	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400778	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553400785	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553400956	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553401634	G>T	Likely-pathogenic	Splice donor variant
rs1553403262	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403282	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403321	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553403401	AGTAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403560	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403585	->CTATTCTGGACTG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403598	AA>T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403653	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553403656	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403685	TATACCTGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403762	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403851	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403864	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403882	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553403917	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553403989	GCCTGTCATTTTCTACCAGCAGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404020	->C	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404028	TC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404066	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404109	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553404150	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404156	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404180	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404220	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553404233	->CCTA	Pathogenic	Frameshift variant, coding sequence variant
rs1553404252	AACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404277	->ACAT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404283	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553404305	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404310	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404337	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404358	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404368	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404377	ACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404395	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553404423	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404426	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404457	CT>ATA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553404473	->AGGGT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409617	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409656	->AGGTCTTCGAATGCCA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409683	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409686	CCATCACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409691	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409710	AGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409715	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553409764	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409774	CTTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409778	->T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant
rs1553409851	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553409901	G>T	Likely-pathogenic	Splice donor variant
rs1553412797	->AC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553414071	GTAGTACCAAGATG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553416233	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553416867	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553416872	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553417044	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418449	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418457	->CACATAGAGA	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs1553418500	TGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418505	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418512	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418513	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553418578	GA>-	Pathogenic	Stop gained, coding sequence variant
rs1553418598	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553418609	AATTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553418638	G>A	Likely-pathogenic	Splice donor variant
rs1553421488	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421496	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421626	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421657	T>A	Likely-pathogenic	Splice donor variant
rs1553421725	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553421739	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421741	TACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421752	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553421886	CTG>TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553422035	TCCT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558639105	G>A	Pathogenic	Stop gained, coding sequence variant
rs1558639213	C>T	Pathogenic	Stop gained, coding sequence variant
rs1558648189	CACA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558648759	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1558651349	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1558651680	C>A	Pathogenic	Stop gained, coding sequence variant
rs1558667882	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558712413	C>T	Pathogenic	Stop gained, coding sequence variant
rs1572911143	T>C	Likely-pathogenic	Splice donor variant
rs1572914641	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572931120	CACTTCTAAAGGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572931360	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1572932377	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572932845	C>T	Pathogenic	Coding sequence variant, stop gained
rs1572933385	CA>-	Pathogenic	Coding sequence variant, stop gained
rs1572934951	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572935708	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1572936092	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1572936360	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1572936972	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572937636	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1572970628	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573000963	->TATT	Pathogenic	Coding sequence variant, frameshift variant
rs1573030204	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573052379	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573053394	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1573053412	C>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(8)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004192	hsa-miR-197-3p	Microarray	16822819
MIRT019997	hsa-miR-375	Microarray	20215506
MIRT031049	hsa-miR-21-5p	Microarray	18591254
MIRT050457	hsa-miR-22-3p	CLASH	23622248
MIRT049216	hsa-miR-92a-3p	CLASH	23622248
MIRT038525	hsa-miR-99b-3p	CLASH	23622248
MIRT441233	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441233	hsa-miR-218-5p	HITS-CLIP	23212916

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	31413325, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	15855349, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	20844083
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016197	Process	Endosomal transport	IMP	22693585
GO:0036064	Component	Ciliary basal body	IDA
GO:0042995	Component	Cell projection	IEA
GO:0046599	Process	Regulation of centriole replication	IBA
GO:0051492	Process	Regulation of stress fiber assembly	IMP	22693585
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27803297

MIM	HGNC	e!Ensembl
606844	428	ENSG00000116127

Protein

UniProt ID

Q8TCU4

Protein name

Centrosome-associated protein ALMS1 (Alstrom syndrome protein 1)

Protein function

Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based st

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18727	ALMS_repeat	539 → 585	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	586 → 632	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	633 → 679	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	680 → 726	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	727 → 774	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	775 → 821	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	822 → 871	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	872 → 918	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	919 → 965	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	966 → 1013	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1014 → 1060	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1061 → 1107	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1108 → 1155	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1156 → 1202	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1203 → 1249	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1250 → 1297	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1298 → 1344	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1345 → 1392	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1393 → 1439	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1440 → 1486	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1487 → 1534	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1535 → 1581	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1582 → 1628	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1629 → 1675	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1676 → 1722	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1723 → 1769	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1770 → 1816	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1817 → 1861	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1862 → 1906	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1907 → 1951	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1952 → 1996	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	1993 → 2028	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	2059 → 2105	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	2106 → 2152	Alstrom syndrome repeat	Repeat
PF18727	ALMS_repeat	2153 → 2199	Alstrom syndrome repeat	Repeat
PF15309	ALMS_motif	4032 → 4164	ALMS motif	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level). {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}.

Sequence

MEPEDLPWPGELEEEEEEEEEEEEEEEEAAAAAAANVDDVVVVEEVEEEAGRELDSDSHY
GPQHLESIDDEEDEEAKAWLQAHPGRILPPLSPPQHRYSEGERTSLEKIVPLTCHVWQQI
VYQGNSRTQISDTNVVCLETTAQRGSGDDQKTESWHCLPQEMDSSQTLDTSQTRFNVRTE
DTEVTDFPSLEEGILTQSENQVKEPNRDLFCSPLLVIQDSFASPDLPLLTCLTQDQEFAP
DSLFHQSELSFAPLRGIPDKSEDTEWSSRPSEVSEALFQATAEVASDLASSRFSVSQHPL
IGSTAVGSQCPFLPSEQGNNEETISSVDELKIPKDCDRYDDLCSYMSWKTRKDTQWPENN
LADKDQVSVATSFDITDENIATKRSDHFDAARSYGQYWTQEDSSKQAETYLTKGLQGKVE
SDVITLDGLNENAVVCSERVAELQRKPTRESEYHSSDLRMLRMSPDTVPKAPKHLKAGDT
SKGGIAKVTQSNLKSGITTTPVDSDIGSHLSLSLEDLSQLAVSSPLETTTGQHTDTLNQK
TLADTHLTEETLKVTAIPEPADQKTATPTVLSSSHSHRGKPSIFYQQGLPDSHLTEEALK
VSAAPGLADQTTGMSTLTSTSYSHREKPGTFYQQELPESNLTEEPLEVSAAPGPVEQKTG
IPTVSSTSHSHVEDLLFFYRQTLPDGHLTDQALKVSAVSGPADQKTGTATVLSTPHSHRE
KPGIFYQQEFADSHQTEETLTKVSATPGPADQKTEIPAVQSSSYSQREKPSILYPQDLAD
SHLPEEGLKVSAVAGPADQKTGLPTVPSSAYSHREKLLVFYQQALLDSHLPEEALKVSAV
SGPADGKTGTPAVTSTSSASSSLGEKPSAFYQQTLPNSHLTEEALKVSIVPGPGDQKTGI
PSAPSSFYSHREKPIIFSQQTLPDFLFPEEALKVSAVSVLAAQKTGTPTVSSNSHSHSEK
SSVFYQQELPDSDLPRESLKMSAIPGLTDQKTVPTPTVPSGSFSHREKPSIFYQQEWPDS
YATEKALKVSTGPGPADQKTEIPAVQSSSYPQREKPSVLYPQVLSDSHLPEESLKVSAFP
GPADQMTDTPAVPSTFYSQREKPGIFYQQTLPESHLPKEALKISVAPGLADQKTGTPTVT
STSYSQHREKPSIFHQQALPGTHIPEEAQKVSAVTGPGNQKTWIPRVLSTFYSQREKPGI
FYQQTLPGSHIPEEAQKVSPVLGPADQKTGTPTPTSASYSHTEKPGIFYQQVLPDNHPTE
EALKISVASEPVDQTTGTPAVTSTSYSQYREKPSIFYQQSLPSSHLTEEAKNVSAVPGPA
DQKTVIPILPSTFYSHTEKPGVFYQQVLPHSHPTEEALKISVASEPVDQTTGTPTVTSTS
YSQHTEKPSIFYQQSLPGSHLTEEAKNVSAVPGPGDRKTGIPTLPSTFYSHTEKPGSFYQ
QVLPHSHLPEEALEVSVAPGPVDQTIGTPTVTSPSSSFGEKPIVIYKQAFPEGHLPEESL
KVSVAPGPVGQTTGAPTITSPSYSQHRAKSGSFYQLALLGSQIPEEALRVSSAPGPADQT
TGIPTITSTSYSFGEKPIVNYKQAFPDGHLPEEALKVSIVSGPTEKKTDIPAGPLGSSAL
GEKPITFYRQALLDSPLNKEVVKVSAAPGPADQKTETLPVHSTSYSNRGKPVIFYQQTLS
DSHLPEEALKVPPVPGPDAQKTETPSVSSSLYSYREKPIVFYQQALPDSELTQEALKVSA
VPQPADQKTGLSTVTSSFYSHTEKPNISYQQELPDSHLTEEALKVSNVPGPADQKTGVST
VTSTSYSHREKPIVSYQRELPHFTEAGLKILRVPGPADQKTGINILPSNSYPQREHSVIS
YEQELPDLTEVTLKAIGVPGPADQKTGIQIASSSSYSNREKASIFHQQELPDVTEEALNV
FVVPGQGDRKTEIPTVPLSYYSRREKPSVISQQELPDSHLTEEALKVSPVSIPAEQKTGI
PIGLSSSYSHSHKEKLKISTVHIPDDQKTEFPAATLSSYSQIEKPKISTVIGPNDQKTPS
QTAFHSSYSQTVKPNILFQQQLPDRDQSKGILKISAVPELTDVNTGKPVSLSSSYFHREK
SNIFSPQELPGSHVTEDVLKVSTIPGPAGQKTVLPTALPSSFSHREKPDIFYQKDLPDRH
LTEDALKISSALGQADQITGLQTVPSGTYSHGENHKLVSEHVQRLIDNLNSSDSSVSSNN
VLLNSQADDRVVINKPESAGFRDVGSEEIQDAENSAKTLKEIRTLLMEAENMALKRCNFP
APLARFRDISDISFIQSKKVVCFKEPSSTGVSNGDLLHRQPFTEESPSSRCIQKDIGTQT
NLKCRRGIENWEFISSTTVRSPLQEAESKVSMALEETLRQYQAAKSVMRSEPEGCSGTIG
NKIIIPMMTVIKSDSSSDASDGNGSCSWDSNLPESLESVSDVLLNFFPYVSPKTSITDSR
EEEGVSESEDGGGSSVDSLAAHVKNLLQCESSLNHAKEILRNAEEEESRVRAHAWNMKFN
LAHDCGYSISELNEDDRRKVEEIKAELFGHGRTTDLSKGLQSPRGMGCKPEAVCSHIIIE
SHEKGCFRTLTSEHPQLDRHPCAFRSAGPSEMTRGRQNPSSCRAKHVNLSASLDQNNSHF
KVWNSLQLKSHSPFQNFIPDEFKISKGLRMPFDEKMDPWLSELVEPAFVPPKEVDFHSSS
QMPSPEPMKKFTTSITFSSHRHSKCISNSSVVKVGVTEGSQCTGASVGVFNSHFTEEQNP
PRDLKQKTSSPSSFKMHSNSQDKEVTILAEGRRQSQKLPVDFERSFQEEKPLERSDFTGS
HSEPSTRANCSNFKEIQISDNHTLISMGRPSSTLGVNRSSSRLGVKEKNVTITPDLPSCI
FLEQRELFEQSKAPRADDHVRKHHSPSPQHQDYVAPDLPSCIFLEQRELFEQCKAPYVDH
QMRENHSPLPQGQDSIASDLPSPISLEQCQSKAPGVDDQMNKHHFPLPQGQDCVVEKNNQ
HKPKSHISNINVEAKFNTVVSQSAPNHCTLAASASTPPSNRKALSCVHITLCPKTSSKLD
SGTLDERFHSLDAASKARMNSEFNFDLHTVSSRSLEPTSKLLTSKPVAQDQESLGFLGPK
SSLDFQVVQPSLPDSNTITQDLKTIPSQNSQIVTSRQIQVNISDFEGHSNPEGTPVFADR
LPEKMKTPLSAFSEKLSSDAVTQITTESPEKTLFSSEIFINAEDRGHEIIEPGNQKLRKA
PVKFASSSSVQQVTFSRGTDGQPLLLPYKPSGSTKMYYVPQLRQIPPSPDSKSDTTVESS
HSGSNDAIAPDFPAQVLGTRDDDLSATVNIKHKEGIYSKRVVTKASLPVGEKPLQNENAD
ASVQVLITGDENLSDKKQQEIHSTRAVTEAAQAKEKESLQKDTADSSAAAAAEHSAQVGD
PEMKNLPDTKAITQKEEIHRKKTVPEEAWPNNKESLQINIEESECHSEFENTTRSVFRSA
KFYIHHPVHLPSDQDICHESLGKSVFMRHSWKDFFQHHPDKHREHMCLPLPYQNMDKTKT
DYTRIKSLSINVNLGNKEVMDTTKSQVRDYPKHNGQISDPQRDQKVTPEQTTQHTVSLNE
LWNKYRERQRQQRQPELGDRKELSLVDRLDRLAKILQNPITHSLQVSESTHDDSRGERSV
KEWSGRQQQRNKLQKKKRFKSLEKSHKNTGELKKSKVLSHHRAGRSNQIKIEQIKFDKYI
LSKQPGFNYISNTSSDCRPSEESELLTDTTTNILSGTTSTVESDILTQTDREVALHERSS
SVSTIDTARLIQAFGHERVCLSPRRIKLYSSITNQQRRYLEKRSKHSKKVLNTGHPLVTS
EHTRRRHIQVANHVISSDSISSSASSFLSSNSTFCNKQNVHMLNKGIQAGNLEIVNGAKK
HTRDVGITFPTPSSSEAKLEENSDVTSWSEEKREEKMLFTGYPEDRKLKKNKKNSHEGVS
WFVPVENVESRSKKENVPNTCGPGISWFEPITKTRPWREPLREQNCQGQHLDGRGYLAGP
GREAGRDLLRPFVRATLQESLQFHRPDFISRSGERIKRLKLIVQERKLQSMLQTERDALF
NIDRERQGHQNRMCPLPKRVFLAIQKNKPISKKEMIQRSKRIYEQLPEVQKKREEEKRKS
EYKSYRLRAQLYKKRVTNQLLGRKVPWD

Sequence length

4168

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

Show/Hide Causal Diseases (8)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Alstrom Syndrome	alstrom syndrome	rs1553403653, rs748709116, rs398122994, rs1553404252, rs768751472, rs1553403560, rs1553421739, rs1359874667, rs1553404180, rs1558648189, rs1490127694, rs773513360, rs1553414071, rs1553403851, rs1060500039 View all (223 more)	N/A
retinal dystrophy	Retinal dystrophy	rs1553409710, rs376091780, rs749339938, rs1225343345, rs387906312, rs1270472063, rs761292021, rs1476205467, rs1315351235, rs797045228, rs1205704532, rs541559170, rs1671925979, rs1672973685, rs770558150 View all (11 more)	N/A
Bardet-Biedl Syndrome	bardet-biedl syndrome	rs1473611414	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs1426009756	N/A
Mental retardation	intellectual disability	rs758098717	N/A
Retinal Dystrophy	Retinal dystrophy, early-onset severe	rs772136379	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1572934951, rs770558150, rs1671239184	N/A
stickler syndrome	Stickler syndrome	rs1553404310	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cervical Cancer	Cervical cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
Hyperopia	Hyperopia	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Monogenic Diabetes	monogenic diabetes	N/A	N/A	ClinVar
Nephrotic Syndrome	nephrotic syndrome	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (58)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33683834
Alstrom Syndrome	Associate	19279085, 19515241, 20381594, 20844083, 21541333, 21877133, 21897446, 22447358, 22773737, 22876109, 23188138, 23652376, 24049434, 24319333, 24690487 View all (30 more)
Amaurosis congenita of Leber type 1	Associate	40294858
Bardet Biedl Syndrome	Associate	22773737, 24690487, 28502102, 29193673
Blindness	Associate	36927560
Cardiomyopathies	Associate	19515241, 20381594, 25846608
Cardiomyopathy Dilated	Associate	33669459, 36927560
Cataract	Associate	24319333
Ciliopathies	Associate	28800606, 34365092, 34387706, 35764379
Cognitive Dysfunction	Associate	23188138
Colonic Neoplasms	Associate	36281164
Color Vision Defects	Associate	29193673, 36162988
Cone Rod Dystrophies	Associate	26077327, 28724398, 29193673, 31810438
Deafness	Associate	36927560
Dental Caries	Associate	29859070
Diabetes Mellitus	Associate	28432734, 36537469, 36927560
Diabetes Mellitus Type 1	Associate	23652376, 26957854
Diabetes Mellitus Type 2	Associate	19279085, 24319333
Disease	Associate	36161854
Dupuytren Contracture	Associate	35292292
Endocardial Fibroelastosis	Associate	34387706
Fibrosis	Associate	21541333, 35292292
Genetic Diseases Inborn	Associate	28135309
Hearing Loss	Associate	31810438, 34021019
Hearing Loss Sensorineural	Associate	20381594, 20844083, 36162988
Hodgkin Disease	Associate	28135309
Hyperinsulinism	Associate	19283853, 24319333
Hyperlipidemias	Associate	36927560
Hypertension Pulmonary	Associate	39542781
Hypertriglyceridemia	Associate	36927560
Hypothyroidism	Associate	24319333
Insulin Resistance	Associate	19279085, 23188138, 36927560
Kidney Diseases	Associate	30064963
Leber Congenital Amaurosis	Associate	21901789, 26957854, 29193673, 36140798
Leukemia Lymphocytic Chronic B Cell	Associate	24891321
Lipid Metabolism Disorders	Associate	36162988
Lipodystrophy	Associate	23188138
Liver Diseases	Associate	36927560
Metabolic Diseases	Associate	19515241, 20381594, 20844083
Multiple Organ Failure	Associate	25846608
Muscular Dystrophies Limb Girdle	Associate	26077327
Myocardial Infarction	Associate	29845217, 32808654
Neoplasms	Associate	24891321
Nystagmus Pathologic	Associate	36162988
Obesity	Associate	19279085, 23188138, 23652376, 24690487, 33921825, 36927560
Penile Induration	Associate	35292292
Photophobia	Stimulate	40294858
Renal Insufficiency Chronic	Associate	20383146, 21980298, 37461045
Retinal Degeneration	Associate	24319333, 24690487
Retinal Diseases	Associate	21901789, 26077327, 29193673, 34021019, 36161854
Retinal Dystrophies	Associate	26957854, 36140798
Retinitis Pigmentosa	Associate	36140798
Small Cell Lung Carcinoma	Associate	31403267
Squamous Cell Carcinoma of Head and Neck	Associate	33683834
Thiamine responsive megaloblastic anemia syndrome	Associate	28432734
Vision Low	Associate	36162988
Wolfram Syndrome	Associate	28432734
Wolfram Syndrome 2	Associate	28432734

ALMS1 (ALMS1 centrosome and basal body associated protein)