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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23363
Gene name	Obscurin like cytoskeletal adaptor 1
Gene symbol	OBSL1
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q35
Summary	Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal i

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs79295927	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121918215	G>T	Pathogenic	Stop gained, coding sequence variant
rs121918216	G>A,C,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs146306059	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149009269	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201893489	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, missense variant
rs760929207	ACCTTTGACTG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs762334954	->T	Pathogenic	Frameshift variant, coding sequence variant
rs775172922	C>G	Likely-pathogenic	Intron variant
rs775865076	G>A	Pathogenic	Coding sequence variant, stop gained
rs780389591	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs886041519	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518716	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518717	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant, genic downstream transcript variant
rs1335171880	CACGGTGCGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1449351602	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1553537027	ATGAGTCTGTGCTGCAGACCCTTCTGCTCTATACGGTACCGCAGGGCCCCAGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559155800	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1559155954	->A	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045633	hsa-miR-149-5p	CLASH	23622248
MIRT1201708	hsa-miR-1	CLIP-seq
MIRT1201709	hsa-miR-105	CLIP-seq
MIRT1201710	hsa-miR-1207-5p	CLIP-seq
MIRT1201711	hsa-miR-1302	CLIP-seq
MIRT1201712	hsa-miR-1321	CLIP-seq
MIRT1201713	hsa-miR-154	CLIP-seq
MIRT1201714	hsa-miR-206	CLIP-seq
MIRT1201715	hsa-miR-296-5p	CLIP-seq
MIRT1201716	hsa-miR-299-3p	CLIP-seq
MIRT1201717	hsa-miR-299-5p	CLIP-seq
MIRT1201718	hsa-miR-3125	CLIP-seq
MIRT1201719	hsa-miR-3150a-3p	CLIP-seq
MIRT1201720	hsa-miR-3175	CLIP-seq
MIRT1201721	hsa-miR-365	CLIP-seq
MIRT1201722	hsa-miR-3675-5p	CLIP-seq
MIRT1201723	hsa-miR-3689d	CLIP-seq
MIRT1201724	hsa-miR-3908	CLIP-seq
MIRT1201725	hsa-miR-3916	CLIP-seq
MIRT1201726	hsa-miR-4265	CLIP-seq
MIRT1201727	hsa-miR-4270	CLIP-seq
MIRT1201728	hsa-miR-4274	CLIP-seq
MIRT1201729	hsa-miR-4296	CLIP-seq
MIRT1201730	hsa-miR-4298	CLIP-seq
MIRT1201731	hsa-miR-4321	CLIP-seq
MIRT1201732	hsa-miR-4322	CLIP-seq
MIRT1201733	hsa-miR-4417	CLIP-seq
MIRT1201734	hsa-miR-4441	CLIP-seq
MIRT1201735	hsa-miR-4488	CLIP-seq
MIRT1201736	hsa-miR-4640-5p	CLIP-seq
MIRT1201737	hsa-miR-4648	CLIP-seq
MIRT1201738	hsa-miR-4667-5p	CLIP-seq
MIRT1201739	hsa-miR-4697-5p	CLIP-seq
MIRT1201740	hsa-miR-4700-5p	CLIP-seq
MIRT1201741	hsa-miR-4726-5p	CLIP-seq
MIRT1201742	hsa-miR-4736	CLIP-seq
MIRT1201743	hsa-miR-4739	CLIP-seq
MIRT1201744	hsa-miR-4756-5p	CLIP-seq
MIRT1201745	hsa-miR-4763-3p	CLIP-seq
MIRT1201746	hsa-miR-486-3p	CLIP-seq
MIRT1201747	hsa-miR-613	CLIP-seq
MIRT1201748	hsa-miR-622	CLIP-seq
MIRT1201749	hsa-miR-637	CLIP-seq
MIRT1201750	hsa-miR-888	CLIP-seq
MIRT1201751	hsa-miR-939	CLIP-seq
MIRT1201752	hsa-miR-561	CLIP-seq
MIRT2058216	hsa-miR-103b	CLIP-seq
MIRT2058217	hsa-miR-2861	CLIP-seq
MIRT2058218	hsa-miR-3126-5p	CLIP-seq
MIRT2058219	hsa-miR-3651	CLIP-seq
MIRT2058220	hsa-miR-4419a	CLIP-seq
MIRT2058221	hsa-miR-4436a	CLIP-seq
MIRT2058222	hsa-miR-4510	CLIP-seq
MIRT2058223	hsa-miR-508-5p	CLIP-seq
MIRT2058224	hsa-miR-544b	CLIP-seq
MIRT2058225	hsa-miR-665	CLIP-seq
MIRT1201708	hsa-miR-1	CLIP-seq
MIRT1201710	hsa-miR-1207-5p	CLIP-seq
MIRT1201711	hsa-miR-1302	CLIP-seq
MIRT1201712	hsa-miR-1321	CLIP-seq
MIRT1201714	hsa-miR-206	CLIP-seq
MIRT1201718	hsa-miR-3125	CLIP-seq
MIRT1201723	hsa-miR-3689d	CLIP-seq
MIRT1201724	hsa-miR-3908	CLIP-seq
MIRT1201725	hsa-miR-3916	CLIP-seq
MIRT1201727	hsa-miR-4270	CLIP-seq
MIRT1201730	hsa-miR-4298	CLIP-seq
MIRT1201734	hsa-miR-4441	CLIP-seq
MIRT1201737	hsa-miR-4648	CLIP-seq
MIRT1201742	hsa-miR-4736	CLIP-seq
MIRT1201743	hsa-miR-4739	CLIP-seq
MIRT1201744	hsa-miR-4756-5p	CLIP-seq
MIRT1201745	hsa-miR-4763-3p	CLIP-seq
MIRT1201747	hsa-miR-613	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	24793695
GO:0005515	Function	Protein binding	IPI	20133654, 20489725, 21572988
GO:0005737	Component	Cytoplasm	IDA	24793695
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	21572988
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA	24793695
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007010	Process	Cytoskeleton organization	NAS	17289344
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IMP	21572988
GO:0007088	Process	Regulation of mitotic nuclear division	IMP	24793695
GO:0008093	Function	Cytoskeletal anchor activity	NAS	17289344
GO:0014704	Component	Intercalated disc	TAS	17289344
GO:0030018	Component	Z disc	TAS	17289344
GO:0031430	Component	M band	TAS	17289344
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	21572988
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	21572988
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	TAS	17289344
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IMP	21572988
GO:0055003	Process	Cardiac myofibril assembly	NAS	17289344
GO:1990393	Component	3M complex	IDA	24793695

MIM	HGNC	e!Ensembl
610991	29092	ENSG00000124006

O75147

Protein name

Obscurin-like protein 1

Protein function

Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:247936

PDB

2CPC , 2E6P , 2E6Q , 2LU7 , 2LVC , 2WP3 , 2WWK , 2WWM , 3KNB , 5FM5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07679	I-set	12 → 101	Immunoglobulin I-set domain	Domain
PF07679	I-set	128 → 226	Immunoglobulin I-set domain	Domain
PF07679	I-set	248 → 336	Immunoglobulin I-set domain	Domain
PF07679	I-set	341 → 426	Immunoglobulin I-set domain	Domain
PF07679	I-set	720 → 795	Immunoglobulin I-set domain	Domain
PF07679	I-set	813 → 893	Immunoglobulin I-set domain	Domain
PF07679	I-set	908 → 984	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	1077 → 1157		Domain
PF07679	I-set	1174 → 1262	Immunoglobulin I-set domain	Domain
PF07679	I-set	1273 → 1348	Immunoglobulin I-set domain	Domain
PF07679	I-set	1360 → 1445	Immunoglobulin I-set domain	Domain
PF07679	I-set	1449 → 1529	Immunoglobulin I-set domain	Domain
PF07679	I-set	1629 → 1715	Immunoglobulin I-set domain	Domain
PF07679	I-set	1719 → 1796	Immunoglobulin I-set domain	Domain
PF07679	I-set	1809 → 1892	Immunoglobulin I-set domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with predominant levels found in the heart. {ECO:0000269|PubMed:17289344}.

Sequence

MKASSGDQGSPPCFLRFPRPVRVVSGAEAELKCVVLGEPPPVVVWEKGGQQLAASERLSF
PADGAEHGLLLTAALPTDAGVYVCRARNAAGEAYAAAAVTVLEPPASDPELQPAERPLPS
PGSGEGAPVFLTGPRSQWVLRGAEVVLTCRAGGLPEPTLYWEKDGMALDEVWDSSHFALQ
PGRAEDGPGASLALRILAARLPDSGVYVCHARNAHGHAQAGALLQVHQPPESPPADPDEA
PAPVVEPLKCAPKTFWVNEGKHAKFRCYVMGKPEPEIEWHWEGRPLLPDRRRLMYRDRDG
GFVLKVLYCQAKDRGLYVCAARNSAGQTLSAVQLHVKEPRLRFTRPLQDVEGREHGIAVL
ECKVPNSRIPTAWFREDQRLLPCRKYEQIEEGTVRRLIIHRLKADDDGIYLCEMRGRVRT
VANVTVKGPILKRLPRKLDVLEGENAVLLVETLEAGVEGRWSRDGEELPVICQSSSGHMH
ALVLPGVTREDAGEVTFSLGNSRTTTLLRVKCVKHSPPGPPILAEMFKGHKNTVLLTWKP
PEPAPETPFIYRLERQEVGSEDWIQCFSIEKAGAVEVPGDCVPSEGDYRFRICTVSGHGR
SPHVVFHGSAHLVPTARLVAGLEDVQVYDGEDAVFSLDLSTIIQGTWFLNGEELKSNEPE
GQVEPGALRYRIEQKGLQHRLILHAVKHQDSGALVGFSCPGVQDSAALTIQESPVHILSP
QDRVSLTFTTSERVVLTCELSRVDFPATWYKDGQKVEESELLVVKMDGRKHRLILPEAKV
QDSGEFECRTEGVSAFFGVTVQDPPVHIVDPREHVFVHAITSECVMLACEVDREDAPVRW
YKDGQEVEESDFVVLENEGPHRRLVLPATQPSDGGEFQCVAGDECAYFTVTITDVSSWIV
YPSGKVYVAAVRLERVVLTCELCRPWAEVRWTKDGEEVVESPALLLQKEDTVRRLVLPAV
QLEDSGEYLCEIDDESASFTVTVTEPPVRIIYPRDEVTLIAVTLECVVLMCELSREDAPV
RWYKDGLEVEESEALVLERDGPRCRLVLPAAQPEDGGEFVCDAGDDSAFFTVTVTAPPER
IVHPAARSLDLHFGAPGRVELRCEVAPAGSQVRWYKDGLEVEASDALQLGAEGPTRTLTL
PHAQPEDAGEYVCETRHEAITFNVILAEPPVQFLALETTPSPLCVAPGEPVVLSCELSRA
GAPVVWSHNGRPVQEGEGLELHAEGPRRVLCIQAAGPAHAGLYTCQSGAAPGAPSLSFTV
QVAEPPVRVVAPEAAQTRVRSTPGGDLELVVHLSGPGGPVRWYKDGERLASQGRVQLEQA
GARQVLRVQGARSGDAGEYLCDAPQDSRIFLVSVEEPLLVKLVSELTPLTVHEGDDATFR
CEVSPPDADVTWLRNGAVVTPGPQVEMAQNGSSRILTLRGCQLGDAGTVTLRAGSTATSA
RLHVRETELLFLRRLQDVRAEEGQDVCLEVETGRVGAAGAVRWVRGGQPLPHDSRLSMAQ
DGHIHRLFIHGVILADQGTYGCESHHDRTLARLSVRPRQLRVLRPLEDVTISEGGSATFQ
LELSQEGVTGEWARGGVQLYPGPKCHIHSDGHRHRLVLNGLGLADSGCVSFTADSLRCAA
RLIVREVPVTIVRGPHDLEVTEGDTATFECELSQALADVTWEKDGNALTPSPRLRLQALG
TRRLLQLRRCGPSDAGTYSCAVGTARAGPVRLTVRERTVAVLSELRSVSAREGDGATFEC
TVSEVETTGRWELGGRPLRPGARVRIRQEGKKHILVLSELRAEDAGEVRFQAGPAQSLAL
LEVEALPLQMCRHPPREKTVLVGRRAVLEVTVSRSGGHVCWLREGAELCPGDKYEMRSHG
PTHSLVIHDVRPEDQGTYCCQAGQDSTHTRLLVEGN

Sequence length

1896

Interactions

View interactions

	Reactome
			Neddylation

348

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3M syndrome 1	Likely pathogenic; Pathogenic	rs760929207, rs1559155954	RCV000778117 RCV000778119
3M syndrome 2	Pathogenic; Likely pathogenic	rs1696816233, rs2106028466, rs767237510, rs1396471922, rs121918215, rs1335171880, rs121918216, rs2106102918, rs1292663596, rs2546295090, rs2469091008, rs762334954, rs2546180341, rs776873731, rs2469065805 View all (9 more)	RCV001619767 RCV001782545 RCV001807905 RCV005017016 RCV000001101 RCV000001102 RCV000001104 RCV002250962 RCV002281882 RCV002283778 RCV002308600 RCV000175869 RCV003219142 RCV003314469 RCV003486281 RCV003495348 RCV000415144 RCV005027570 RCV000001103 RCV003128253 RCV000754639 RCV001089805 RCV001806092 RCV001198095
OBSL1-related disorder	Pathogenic; Likely pathogenic	rs767237510, rs2546247239, rs2469105576, rs2469101147	RCV003426198 RCV003394496 RCV003414324 RCV003408472
Short stature	Likely pathogenic	rs1553538488	RCV000626927

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1697254277	-
3-M syndrome	Benign; Uncertain significance; Likely benign	rs747020402, rs538538342, rs757193063, rs1491488448	RCV000273904 RCV000328972 RCV000362603 RCV000313540 RCV000270175
Hepatocellular carcinoma	Benign	rs2292360, rs4672931	RCV005911381 RCV005924774
Monogenic short stature	Conflicting classifications of pathogenicity	rs568750433	RCV006442474
Uterine corpus endometrial carcinoma	Likely benign	rs905697174	RCV005934760

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions	Associate	37780995
Facial Dysmorphism with Multiple Malformations	Associate	37780995
Fetal Diseases	Associate	37875969
Growth Disorders	Associate	21737058, 24711643, 24793695, 27796265, 33107243, 37780995
Hypogonadism	Associate	37780995
Hypospadias	Associate	37780995
Kyphoscoliosis 1	Associate	37780995
Laron Syndrome	Associate	34136918
Lipodystrophy Congenital Generalized	Associate	32349771
Miller McKusick Malvaux Syndrome (3M Syndrome)	Associate	21737058, 23517720, 24711643, 25923536, 27796265, 32141654, 33107243, 34136918
Multiple Organ Failure	Associate	39272989
Musculoskeletal Abnormalities	Associate	37780995
Neoplasms	Associate	37279952
Renal Insufficiency	Associate	24711643
Thoracic Injuries	Associate	37780995
Three M Syndrome 2	Associate	37780995

OBSL1 (obscurin like cytoskeletal adaptor 1)