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.	286
Gene name Gene Name - the full gene name approved by the HGNC.	Ankyrin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANK1
Synonyms (NCBI Gene) Gene synonyms aliases	ANK, SPH1, SPH2, ankyrin-1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p11.21
Summary Summary of gene provided in NCBI Entrez Gene.	Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852829	C>A,T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant, missense variant, intron variant
rs137852830	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs397514029	->G	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs750820522	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs777701149	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs786205243	C>T	Pathogenic	Intron variant, genic upstream transcript variant
rs786205244	ATGTGCAGGGCCGGGAGGCG>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886042022	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1064795837	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1554522035	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1554543126	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1554544862	TGGAACTTCCGGCGCCGGGG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1554567249	T>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1554578304	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1563502820	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1586072383	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1586114714	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1586144223	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1586145051	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1586412723	C>A	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant

Show/Hide all(217)

miRTarBase ID	miRNA	Experiments	Reference
MIRT724155	hsa-miR-3617-5p	HITS-CLIP	19536157
MIRT724154	hsa-miR-641	HITS-CLIP	19536157
MIRT724153	hsa-miR-376c-3p	HITS-CLIP	19536157
MIRT724152	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724151	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT724150	hsa-miR-4635	HITS-CLIP	19536157
MIRT724149	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT724148	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724147	hsa-miR-1273e	HITS-CLIP	19536157
MIRT490335	hsa-miR-2392	PAR-CLIP	20371350
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	20371350
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT490331	hsa-miR-1204	PAR-CLIP	20371350
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT490329	hsa-miR-4534	PAR-CLIP	20371350
MIRT490328	hsa-miR-8082	PAR-CLIP	20371350
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT490326	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490323	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490321	hsa-miR-5698	PAR-CLIP	20371350
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490318	hsa-miR-4525	PAR-CLIP	20371350
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT490316	hsa-miR-663b	PAR-CLIP	20371350
MIRT490315	hsa-miR-1275	PAR-CLIP	20371350
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT490335	hsa-miR-2392	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	23592263
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT490331	hsa-miR-1204	PAR-CLIP	23592263
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT490329	hsa-miR-4534	PAR-CLIP	23592263
MIRT490328	hsa-miR-8082	PAR-CLIP	23592263
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT490326	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490323	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490321	hsa-miR-5698	PAR-CLIP	23592263
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490318	hsa-miR-4525	PAR-CLIP	23592263
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490316	hsa-miR-663b	PAR-CLIP	23592263
MIRT490315	hsa-miR-1275	PAR-CLIP	23592263
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484253	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT484251	hsa-miR-4457	PAR-CLIP	23592263
MIRT484250	hsa-miR-125b-2-3p	PAR-CLIP	23592263
MIRT484249	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT484247	hsa-miR-206	PAR-CLIP	23592263
MIRT484248	hsa-miR-613	PAR-CLIP	23592263
MIRT484246	hsa-miR-3689d	PAR-CLIP	23592263
MIRT484245	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT484244	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT484243	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT484242	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT484241	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT484240	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT484239	hsa-miR-513b-5p	PAR-CLIP	23592263
MIRT484250	hsa-miR-125b-2-3p	PAR-CLIP	27292025
MIRT484249	hsa-miR-1-3p	PAR-CLIP	27292025
MIRT484247	hsa-miR-206	PAR-CLIP	27292025
MIRT484246	hsa-miR-3689d	PAR-CLIP	27292025
MIRT484251	hsa-miR-4457	PAR-CLIP	27292025
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	27292025
MIRT484239	hsa-miR-513b-5p	PAR-CLIP	27292025
MIRT484240	hsa-miR-597-5p	PAR-CLIP	27292025
MIRT484248	hsa-miR-613	PAR-CLIP	27292025
MIRT484241	hsa-miR-6747-5p	PAR-CLIP	27292025
MIRT484244	hsa-miR-6752-5p	PAR-CLIP	27292025
MIRT484243	hsa-miR-6842-5p	PAR-CLIP	27292025
MIRT484245	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT484242	hsa-miR-7110-5p	PAR-CLIP	27292025
MIRT724155	hsa-miR-3617-5p	HITS-CLIP	19536157
MIRT724154	hsa-miR-641	HITS-CLIP	19536157
MIRT724153	hsa-miR-376c-3p	HITS-CLIP	19536157
MIRT724152	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT724151	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT724150	hsa-miR-4635	HITS-CLIP	19536157
MIRT724149	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT724148	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724147	hsa-miR-1273e	HITS-CLIP	19536157
MIRT490335	hsa-miR-2392	PAR-CLIP	20371350
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	20371350
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	20371350
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT490331	hsa-miR-1204	PAR-CLIP	20371350
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT490329	hsa-miR-4534	PAR-CLIP	20371350
MIRT490328	hsa-miR-8082	PAR-CLIP	20371350
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	20371350
MIRT490326	hsa-miR-874-5p	PAR-CLIP	20371350
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT490323	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT490321	hsa-miR-5698	PAR-CLIP	20371350
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT490318	hsa-miR-4525	PAR-CLIP	20371350
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT490316	hsa-miR-663b	PAR-CLIP	20371350
MIRT490315	hsa-miR-1275	PAR-CLIP	20371350
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT490335	hsa-miR-2392	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT490334	hsa-miR-6840-5p	PAR-CLIP	23592263
MIRT490333	hsa-miR-5587-3p	PAR-CLIP	23592263
MIRT490332	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT490331	hsa-miR-1204	PAR-CLIP	23592263
MIRT490330	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT490329	hsa-miR-4534	PAR-CLIP	23592263
MIRT490328	hsa-miR-8082	PAR-CLIP	23592263
MIRT490327	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT490326	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT490324	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT490325	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT490323	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT490322	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT490321	hsa-miR-5698	PAR-CLIP	23592263
MIRT490320	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT490319	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT490318	hsa-miR-4525	PAR-CLIP	23592263
MIRT490317	hsa-miR-5010-5p	PAR-CLIP	23592263
MIRT490316	hsa-miR-663b	PAR-CLIP	23592263
MIRT490315	hsa-miR-1275	PAR-CLIP	23592263
MIRT490313	hsa-miR-4665-5p	PAR-CLIP	23592263
MIRT484253	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT484252	hsa-miR-4802-5p	PAR-CLIP	23592263
MIRT484251	hsa-miR-4457	PAR-CLIP	23592263
MIRT484250	hsa-miR-125b-2-3p	PAR-CLIP	23592263
MIRT484249	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT484247	hsa-miR-206	PAR-CLIP	23592263
MIRT484248	hsa-miR-613	PAR-CLIP	23592263
MIRT484246	hsa-miR-3689d	PAR-CLIP	23592263
MIRT484245	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT484244	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT484243	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT484242	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT484241	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT484240	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT484239	hsa-miR-513b-5p	PAR-CLIP	23592263
MIRT781571	hsa-miR-1254	CLIP-seq
MIRT781572	hsa-miR-2861	CLIP-seq
MIRT781573	hsa-miR-3116	CLIP-seq
MIRT781574	hsa-miR-4532	CLIP-seq
MIRT781575	hsa-miR-4743	CLIP-seq
MIRT781576	hsa-miR-4763-5p	CLIP-seq
MIRT781577	hsa-miR-4787-5p	CLIP-seq
MIRT781578	hsa-miR-661	CLIP-seq
MIRT781579	hsa-miR-1205	CLIP-seq
MIRT781571	hsa-miR-1254	CLIP-seq
MIRT781580	hsa-miR-1291	CLIP-seq
MIRT781581	hsa-miR-1293	CLIP-seq
MIRT781582	hsa-miR-2278	CLIP-seq
MIRT781583	hsa-miR-29a	CLIP-seq
MIRT781584	hsa-miR-29b	CLIP-seq
MIRT781585	hsa-miR-29c	CLIP-seq
MIRT781573	hsa-miR-3116	CLIP-seq
MIRT781586	hsa-miR-3183	CLIP-seq
MIRT781587	hsa-miR-3192	CLIP-seq
MIRT781588	hsa-miR-323-5p	CLIP-seq
MIRT781589	hsa-miR-326	CLIP-seq
MIRT781590	hsa-miR-328	CLIP-seq
MIRT781591	hsa-miR-330-5p	CLIP-seq
MIRT781592	hsa-miR-3663-3p	CLIP-seq
MIRT781593	hsa-miR-3690	CLIP-seq
MIRT781594	hsa-miR-378	CLIP-seq
MIRT781595	hsa-miR-378b	CLIP-seq
MIRT781596	hsa-miR-378c	CLIP-seq
MIRT781597	hsa-miR-378d	CLIP-seq
MIRT781598	hsa-miR-378e	CLIP-seq
MIRT781599	hsa-miR-378f	CLIP-seq
MIRT781600	hsa-miR-378h	CLIP-seq
MIRT781601	hsa-miR-378i	CLIP-seq
MIRT781602	hsa-miR-422a	CLIP-seq
MIRT781603	hsa-miR-4287	CLIP-seq
MIRT781604	hsa-miR-4292	CLIP-seq
MIRT781605	hsa-miR-4294	CLIP-seq
MIRT781606	hsa-miR-4314	CLIP-seq
MIRT781607	hsa-miR-4469	CLIP-seq
MIRT781608	hsa-miR-4483	CLIP-seq
MIRT781609	hsa-miR-4633-3p	CLIP-seq
MIRT781610	hsa-miR-4639-3p	CLIP-seq
MIRT781611	hsa-miR-4646-5p	CLIP-seq
MIRT781612	hsa-miR-4685-3p	CLIP-seq
MIRT781613	hsa-miR-4706	CLIP-seq
MIRT781614	hsa-miR-4707-3p	CLIP-seq
MIRT781615	hsa-miR-4723-3p	CLIP-seq
MIRT781616	hsa-miR-4725-5p	CLIP-seq
MIRT781617	hsa-miR-4734	CLIP-seq
MIRT781618	hsa-miR-4746-3p	CLIP-seq
MIRT781619	hsa-miR-4749-5p	CLIP-seq
MIRT781620	hsa-miR-504	CLIP-seq
MIRT781621	hsa-miR-516a-3p	CLIP-seq
MIRT781622	hsa-miR-516b	CLIP-seq
MIRT781623	hsa-miR-558	CLIP-seq
MIRT781624	hsa-miR-596	CLIP-seq
MIRT781625	hsa-miR-615-5p	CLIP-seq
MIRT781578	hsa-miR-661	CLIP-seq
MIRT781626	hsa-miR-744	CLIP-seq
MIRT781627	hsa-miR-1972	CLIP-seq
MIRT781628	hsa-miR-4420	CLIP-seq
MIRT781629	hsa-miR-4717-5p	CLIP-seq
MIRT781630	hsa-miR-4766-5p	CLIP-seq
MIRT1930691	hsa-miR-1323	CLIP-seq
MIRT1930692	hsa-miR-548o	CLIP-seq

Show/Hide all(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	NAS	9430667
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	8640229
GO:0005515	Function	Protein binding	IPI	379653, 12527750, 12719424, 16580865, 16962094, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	NAS	1833445
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	379653
GO:0005886	Component	Plasma membrane	NAS	9430667
GO:0006887	Process	Exocytosis	NAS	1833445
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IDA	18768923
GO:0007010	Process	Cytoskeleton organization	NAS	9430667
GO:0007165	Process	Signal transduction	IEA
GO:0008093	Function	Cytoskeletal anchor activity	IBA
GO:0008093	Function	Cytoskeletal anchor activity	IDA	379653
GO:0008093	Function	Cytoskeletal anchor activity	TAS	11427698
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	12354383
GO:0010638	Process	Positive regulation of organelle organization	IEA
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0014731	Component	Spectrin-associated cytoskeleton	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	NAS	12409278
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019899	Function	Enzyme binding	IPI	21177872
GO:0019899	Function	Enzyme binding	TAS	11427698
GO:0019903	Function	Protein phosphatase binding	IPI	12354383
GO:0030018	Component	Z disc	IEA
GO:0030507	Function	Spectrin binding	IBA
GO:0030507	Function	Spectrin binding	IDA	379653, 12354383
GO:0030507	Function	Spectrin binding	IPI	8159688
GO:0030507	Function	Spectrin binding	NAS	8640229
GO:0030673	Component	Axolemma	IEA
GO:0031430	Component	M band	IEA
GO:0031672	Component	A band	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0045199	Process	Maintenance of epithelial cell apical/basal polarity	TAS	11427698
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048193	Process	Golgi vesicle transport	IEA
GO:0051117	Function	ATPase binding	IPI	8159688
GO:0071944	Component	Cell periphery	IEA
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IMP	18768923
GO:0170014	Component	Ankyrin-1 complex	IDA	35835865

MIM	HGNC	e!Ensembl
612641	492	ENSG00000029534

Protein

UniProt ID

P16157

Protein name

Ankyrin-1 (ANK-1) (Ankyrin-R) (Erythrocyte ankyrin)

Protein function

Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein

PDB

1N11 , 2YQF , 2YVI , 3F59 , 3KBT , 3KBU , 3UD1 , 3UD2 , 7TW3 , 7TW5 , 7TW6 , 7UZQ , 7UZU , 7V0K , 7V0M , 7V0S , 7V0X , 8CS9 , 8CSL , 8CSV , 8CTE

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00023	Ank	77 → 109	Ankyrin repeat	Repeat
PF00023	Ank	110 → 142	Ankyrin repeat	Repeat
PF00023	Ank	205 → 235	Ankyrin repeat	Repeat
PF00023	Ank	238 → 270	Ankyrin repeat	Repeat
PF00023	Ank	271 → 303	Ankyrin repeat	Repeat
PF00023	Ank	304 → 335	Ankyrin repeat	Repeat
PF00023	Ank	337 → 368	Ankyrin repeat	Repeat
PF00023	Ank	370 → 402	Ankyrin repeat	Repeat
PF00023	Ank	403 → 435	Ankyrin repeat	Repeat
PF00023	Ank	438 → 468	Ankyrin repeat	Repeat
PF00023	Ank	469 → 501	Ankyrin repeat	Repeat
PF00023	Ank	502 → 533	Ankyrin repeat	Repeat
PF00023	Ank	535 → 567	Ankyrin repeat	Repeat
PF00023	Ank	568 → 598	Ankyrin repeat	Repeat
PF00023	Ank	601 → 633	Ankyrin repeat	Repeat
PF00023	Ank	634 → 666	Ankyrin repeat	Repeat
PF00023	Ank	700 → 732	Ankyrin repeat	Repeat
PF00023	Ank	733 → 765	Ankyrin repeat	Repeat
PF00791	ZU5	914 → 1012	ZU5 domain	Family
PF17809	UPA_2	1236 → 1365	UPA domain	Domain
PF00531	Death	1404 → 1486	Death domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform Mu17, isoform Mu18, isoform Mu19 and isoform Mu20 are expressed in skeletal muscle. Isoform Br21 is expressed in brain. {ECO:0000269|PubMed:9430667}.

Sequence

MPYSVGFREADAATSFLRAARSGNLDKALDHLRNGVDINTCNQNGLNGLHLASKEGHVKM
VVELLHKEIILETTTKKGNTALHIAALAGQDEVVRELVNYGANVNAQSQKGFTPLYMAAQ
ENHLEVVKFLLENGANQNVATEDGFTPLAVALQQGHENVVAHLINYGTKGKVRLPALHIA
ARNDDTRTAAVLLQNDPNPDVLSKTGFTPLHIAAHYENLNVAQLLLNRGASVNFTPQNGI
TPLHIASRRGNVIMVRLLLDRGAQIETKTKDELTPLHCAARNGHVRISEILLDHGAPIQA
KTKNGLSPIHMAAQGDHLDCVRLLLQYDAEIDDITLDHLTPLHVAAHCGHHRVAKVLLDK
GAKPNSRALNGFTPLHIACKKNHVRVMELLLKTGASIDAVTESGLTPLHVASFMGHLPIV
KNLLQRGASPNVSNVKVETPLHMAARAGHTEVAKYLLQNKAKVNAKAKDDQTPLHCAARI
GHTNMVKLLLENNANPNLATTAGHTPLHIAAREGHVETVLALLEKEASQACMTKKGFTPL
HVAAKYGKVRVAELLLERDAHPNAAGKNGLTPLHVAVHHNNLDIVKLLLPRGGSPHSPAW
NGYTPLHIAAKQNQVEVARSLLQYGGSANAESVQGVTPLHLAAQEGHAEMVALLLSKQAN
GNLGNKSGLTPLHLVAQEGHVPVADVLIKHGVMVDATTRMGYTPLHVASHYGNIKLVKFL
LQHQADVNAKTKLGYSPLHQAAQQGHTDIVTLLLKNGASPNEVSSDGTTPLAIAKRLGYI
SVTDVLKVVTDETSFVLVSDKHRMSFPETVDEILDVSEDEGEELISFKAERRDSRDVDEE
KELLDFVPKLDQVVESPAIPRIPCAMPETVVIRSEEQEQASKEYDEDSLIPSSPATETSD
NISPVASPVHTGFLVSFMVDARGGSMRGSRHNGLRVVIPPRTCAAPTRITCRLVKPQKLS
TPPPLAEEEGLASRIIALGPTGAQFLSPVIVEIPHFASHGRGDRELVVLRSENGSVWKEH
RSRYGESYLDQILNGMDEELGSLEELEKKRVCRIITTDFPLYFVIMSRLCQDYDTIGPEG
GSLKSKLVPLVQATFPENAVTKRVKLALQAQPVPDELVTKLLGNQATFSPIVTVEPRRRK
FHRPIGLRIPLPPSWTDNPRDSGEGDTTSLRLLCSVIGGTDQAQWEDITGTTKLVYANEC
ANFTTNVSARFWLSDCPRTAEAVNFATLLYKELTAVPYMAKFVIFAKMNDPREGRLRCYC
MTDDKVDKTLEQHENFVEVARSRDIEVLEGMSLFAELSGNLVPVKKAAQQRSFHFQSFRE
NRLAMPVKVRDSSREPGGSLSFLRKAMKYEDTQHILCHLNITMPPCAKGSGAEDRRRTPT
PLALRYSILSESTPGSLSGTEQAEMKMAVISEHLGLSWAELARELQFSVEDINRIRVENP
NSLLEQSVALLNLWVIREGQNANMENLYTALQSIDRGEIVNMLEGSGRQSRNLKPDRRHT
DRDYSLSPSQMNGYSSLQDELLSPASLGCALSSPLRADQYWNEVAVLDAIPLAATEHDTM
LEMSDMQVWSAGLTPSLVTAEDSSLECSKAEDSDATGHEWKLEGALSEEPRGPELGSLEL
VEDDTVDSDATNGLIDLLEQEEGQRSEEKLPGSKRQDDATGAGQDSENEVSLVSGHQRGQ
ARITHSPTVSQVTERSQDRLQDWDADGSIVSYLQDAAQGSWQEEVTQGPHSFQGTSTMTE
GLEPGGSQEYEKVLVSVSEHTWTEQPEAESSQADRDRRQQGQEEQVQEAKNTFTQVVQGN
EFQNIPGEQVTEEQFTDEQGNIVTKKIIRKVVRQIDLSSADAAQEHEEVTVEGPLEDPSE
LEVDIDYFMKHSKDHTSTPNP

Sequence length

1881

Interactions

View interactions

	KEGG		Reactome
	Proteoglycans in cancer		Interaction between L1 and Ankyrins Neurofascin interactions COPI-mediated anterograde transport

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hereditary spherocytosis	Hereditary spherocytosis type 1	rs1554567249, rs137852829, rs1554578304, rs1554627073, rs137852830, rs1586144223, rs137852831, rs1563502820, rs397514029, rs1586072383, rs750820522, rs786205243, rs1586145051, rs1586114714, rs1554522035, rs777701149 View all (1 more)	N/A
Spherocytosis	Spherocytosis, type 1, autosomal recessive	rs786205242, rs786205243, rs786205244	N/A

Show/Hide Unknown Diseases (5)

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.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Diabetes, Type 2 diabetes	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Immunodeficiency	Immunodeficiency 62	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Disease	Stimulate	25452614
Adenocarcinoma	Associate	28965852
Alzheimer Disease	Associate	25129075, 25129077, 28700589, 30045751, 30898171, 32233750
Anemia Hemolytic	Associate	18704959
Anemia Hemolytic Congenital	Associate	37697358
Attention Deficit Disorder with Hyperactivity	Associate	35042901
Beckwith Wiedemann Syndrome	Associate	35218326
Biliary Fistula	Associate	37246216
Carcinogenesis	Associate	31253192
Carcinoma Non Small Cell Lung	Associate	28965852
Cardiac Arrhythmia Ankyrin B Related	Inhibit	27247322
Cerebral Hemorrhage	Associate	30836997
Chondrocalcinosis 2	Associate	12483726
Chondrocalcinosis 2	Stimulate	24293574
Colorectal Neoplasms	Associate	35962343
Craniometaphyseal Dysplasia Autosomal Dominant	Associate	11326338
Diabetes Mellitus	Associate	30907055
Diabetes Mellitus Type 2	Associate	25273842, 27353450, 29483669, 31123324, 32260174, 36693378
Endplate Acetylcholinesterase Deficiency	Associate	25372418
Graft vs Host Disease	Stimulate	25452614
Hemolysis	Associate	37280519
Hypertrophy	Associate	24293574
Intervertebral Disc Degeneration	Associate	25372418
Kallmann Syndrome	Associate	35668409
Lung Neoplasms	Associate	28965852
Metabolic Syndrome	Associate	35631165
Multiple Myeloma	Associate	36131282
Neoplasms	Associate	27054339, 28965852, 35962343, 36131282
Neuroinflammatory Diseases	Associate	30836997, 33069246
Non alcoholic Fatty Liver Disease	Associate	36737504
Osteosarcoma	Associate	35172717
Ovarian Neoplasms	Associate	23571109
Parkinson Disease	Associate	35950872
Primary Release Disorder Of Platelets	Associate	32260174
Schwartz Lelek syndrome	Associate	11326338
Spherocytosis Hereditary	Associate	12899723, 18704959, 21071415, 26107955, 29099659, 30777044, 31016877, 31122244, 31390973, 31602632, 32133777, 32436265, 33187473, 33620149, 35218326 View all (8 more)
Spherocytosis Type 1	Associate	12899723, 18704959, 35568031, 35668409, 9054656, 9067504
Squamous Cell Carcinoma of Head and Neck	Associate	31253192
Uterine Cervicitis	Associate	25372418
Werner Syndrome	Associate	7829057

ANK1 (ankyrin 1)