ANK1 (ankyrin 1)

Gene

• Entrez ID: 286
• Gene name: Ankyrin 1
• Gene symbol: ANK1
• Synonyms (NCBI Gene): ANK, SPH1, SPH2, ankyrin-1
• Chromosome: 8
• Chromosome location: 8p11.21
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 612641
• HGNC: 492
• e!Ensembl: 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

Pathways

KEGG:

Proteoglycans in cancer

Reactome:

Interaction between L1 and Ankyrins
Neurofascin interactions
COPI-mediated anterograde transport

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ANK1-related disorder	Pathogenic; Likely pathogenic	rs2150593517, rs137852831, rs397514029, rs2486915489, rs2487635534, rs35681783, rs2486900052, rs2486721298, rs2486748129, rs2486817571, rs2486967209, rs2486987573, rs2486768968, rs141844800, rs1818974494	RCV003416450 RCV003398399 RCV003415605 RCV003916392 RCV003395707 RCV003396992 RCV003410757 RCV003400209 RCV003399864 RCV003400079 RCV003408408 RCV003397803 RCV003909373 RCV003969073 RCV004727076
Hereditary spherocytosis	Likely pathogenic	rs771419825	RCV003234637
Hereditary spherocytosis type 1	Likely pathogenic; Pathogenic	rs2150563125, rs1172677213, rs2150596703, rs2150635565, rs2150661824, rs2150589601, rs2150589472, rs1187228917, rs2150616506, rs2150612966, rs2150605957, rs2150594434, rs2150593284, rs2150590331, rs2150612992, rs538989808, rs2150605978, rs2150652933, rs2150653010, rs2150594692, rs2150631832, rs2150586181, rs2150593517, rs2150597126, rs2150635459, rs749423708, rs2150602525, rs2150563078, rs2150641057, rs2150612978, rs2150597061, rs2150641017, rs2150661792, rs2150548107, rs1554567249, rs2150556792, rs2150580336, rs2150661848, rs1228535558, rs2150651762, rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs2487607030, rs2486739931, rs2487635203, rs2486928338, rs2486915489, rs2486913461, rs2486762991, rs2486962958, rs2487001985, rs2486923136, rs2486760881, rs2486737128, rs2486768700, rs2487637881, rs2150593275, rs2150593157, rs2486739996, rs2487036236, rs2486839062, rs376057905, rs2486943932, rs2486750606, rs2486997282, rs2486823536, rs2487605572, rs2486853907, rs2486899596, rs2486773149, rs2486773580, rs767398317, rs2486784042, rs1586167794, rs2487635534, rs868452063, rs1826989524, rs1819628292, rs1811286829, rs2487635721, rs2486986598, rs2486900824, rs2486768855, rs2486899883, rs2486822966, rs2487634896, rs2486869276, rs2486751066, rs2487638391, rs2486750826, rs2486763479, rs2486988302, rs2486729228, rs2487638331, rs2486987213, rs2487161140, rs2486913654, rs2487635140, rs2486763550, rs1376266690, rs2486737272, rs2486761002, rs2486748159, rs2486923005, rs2487636997, rs2486914467, rs2486721262, rs2486803720, rs2486838960, rs1821604564, rs771419825, rs2486748499, rs35681783, rs2487634907, rs2486923068, rs2486750189, rs2486776816, rs2486773436, rs2486944433, rs2486728629, rs2486817952, rs2486748136, rs2486759732, rs2486976789, rs1218976308, rs2486987938, rs769735016, rs2486823524, rs2487640420, rs2487605072, rs2487374176, rs2486997588, rs2486869082, rs2486750440, rs761708703, rs2486722467, rs2486842168, rs2487607275, rs2486773459, rs2486784451, rs2486721555, rs2486987392, rs2487161296, rs2487637471, rs2486933563, rs2486907364, rs2486987142, rs2486763402, rs2150621717, rs2486914036, rs867073059, rs2486785822, rs2486944833, rs2486794097, rs1827231890, rs2486750141, rs2486759656, rs2487001941, rs2486915070, rs2486899576, rs2487538167, rs2487605887, rs2486988534, rs2486962860, rs1554522035, rs777701149, rs1554578304, rs1586144223, rs1563502820, rs1586072383, rs750820522, rs1586145051, rs1586114714, rs774067157, rs2150563560, rs2150585752, rs2150635518, rs1818974494, rs1820512673, rs1822828039, rs747701761, rs1825406258, rs1829712320	RCV003136091 RCV001564049 RCV003132510 RCV005635166 RCV001728102 RCV001728103 RCV001728104 RCV001728105 RCV001728106 RCV001728107 RCV001728108 RCV001728109 RCV001728111 RCV001728112 RCV001731172 RCV001731173 RCV001783502 RCV001785923 RCV001785924 RCV001785925 RCV001785926 RCV001785927 RCV001785929 RCV001785931 RCV001785932 RCV001785933 RCV001785934 RCV001785935 RCV001803633 RCV001803645 RCV001802420 RCV001802572 RCV001802573 RCV001802703 RCV001802754 RCV001808148 RCV003130683 RCV005635298 RCV002291004 RCV003490972 RCV000000535 RCV000000538 RCV000000539 RCV000000540 RCV000655898 RCV002291007 RCV002291008 RCV002291009 RCV002291010 RCV002291011 RCV002291012 RCV002291013 RCV002291014 RCV002291020 RCV002291029 RCV002291048 RCV002291058 RCV002291062 RCV002291063 RCV002227334 RCV002269806 RCV003108002 RCV002283967 RCV005635490 RCV003491129 RCV005636619 RCV005254663 RCV005926815 RCV003120304 RCV003133711 RCV003133748 RCV003133778 RCV003131335 RCV003133876 RCV003133904 RCV003131405 RCV003134995 RCV003132022 RCV003132023 RCV003135000 RCV003135005 RCV003135006 RCV003131131 RCV003135640 RCV003131191 RCV003131202 RCV003135744 RCV003133660 RCV003133690 RCV003147255 RCV003143997 RCV003144028 RCV003144047 RCV003144058 RCV003143448 RCV003132667 RCV003130948 RCV003135305 RCV003130989 RCV003135354 RCV003131026 RCV003135414 RCV003135484 RCV003135524 RCV003133983 RCV003134014 RCV003134029 RCV003131467 RCV003131483 RCV003131515 RCV003134132 RCV003131547 RCV003131561 RCV003153016 RCV003234618 RCV005636882 RCV003236699 RCV003315123 RCV003330267 RCV003333334 RCV003388784 RCV003448530 RCV003448726 RCV003448775 RCV005636937 RCV005636946 RCV003490458 RCV003491437 RCV003489295 RCV003489296 RCV003489297 RCV003489298 RCV003489299 RCV003489300 RCV003489301 RCV003489302 RCV003489303 RCV003489304 RCV003489305 RCV003489306 RCV003489307 RCV003489308 RCV003489309 RCV003489310 RCV003489311 RCV003489312 RCV003489313 RCV003489314 RCV003489315 RCV003489316 RCV003489317 RCV003489318 RCV003489319 RCV003489320 RCV003489321 RCV003489322 RCV003489323 RCV003489324 RCV003489325 RCV003489326 RCV003494060 RCV003741359 RCV003741360 RCV005637002 RCV003741136 RCV003741143 RCV003741144 RCV003741146 RCV003741616 RCV003741617 RCV003991843 RCV000655896 RCV000655899 RCV000655897 RCV000655901 RCV003133585 RCV000755817 RCV001002452 RCV001002482 RCV001002400 RCV001029896 RCV001198178 RCV001250152 RCV001534605 RCV001534607 RCV001534606 RCV001286718 RCV001287319 RCV001287845 RCV001286935 RCV001286066 RCV001287819
SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE	Likely pathogenic; Pathogenic	rs786205243, rs786205244	RCV000000542 RCV000000543

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs34664882	RCV005894100
Anemia	Uncertain significance	rs1057518790	RCV000415020
Cervical cancer	Conflicting classifications of pathogenicity	rs142696529	RCV005899375
Colorectal cancer	Benign; Likely benign	rs34664882	RCV005894105
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	rs142696529, rs138948238	RCV005899374 RCV005934871
Familial pancreatic carcinoma	Benign; Likely benign	rs34664882	RCV005894104
Gastric cancer	Benign; Likely benign	rs34664882, rs138948238	RCV005894107 RCV005934872
Hemolytic anemia	Uncertain significance	rs201370791	RCV003234602
Hepatocellular carcinoma	Benign; Likely benign	rs1872877, rs34664882	RCV005916231 RCV005894101
Immunodeficiency 62	Conflicting classifications of pathogenicity	rs142626656	RCV003447570
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	rs34664882, rs140550365	RCV005894102 RCV005902964
Melanoma	Benign; Likely benign	rs34664882	RCV005894111
Microcephaly	Uncertain significance	rs1024028123	RCV001252749
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs34664882	RCV005894103
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs34664882, rs142696529, rs201598401	RCV005894108 RCV005899376 RCV005899377
Sarcoma	Benign; Likely benign	rs34664882	RCV005894106
See cases	Conflicting classifications of pathogenicity	rs147608206	RCV002252320
Spherocytosis	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs34523608, rs515071, rs750625, rs149859024, rs34265667, rs34664882, rs7816734, rs147536061, rs10093583, rs35964634, rs200746947, rs504574, rs2304880, rs200761553, rs1137177, rs2304877, rs61753679, rs61758865, rs34387324, rs142690258, rs28533718, rs17661203, rs61735313, rs2304873, rs6982971, rs2304871, rs372696694, rs61753680, rs2486759750, rs72638943, rs886062933, rs886062934, rs142696529, rs145235970, rs886062937, rs369984591, rs142542271, rs540851221, rs147130318, rs540304535, rs369233964, rs886062941, rs563833117, rs756182531, rs773555671, rs886062943, rs372152994, rs543817, rs112447985, rs886062931, rs546029986, rs72638944, rs140231188, rs1060130, rs772895763, rs117516263, rs144821829, rs150850103, rs61758866, rs144904116, rs577967149, rs762615459, rs150655828, rs201598401, rs769803878, rs142010751, rs746138074, rs375060699, rs758750884, rs886062929, rs545505994, rs560472367, rs182454354, rs572470025, rs886062932, rs886062930, rs78203311, rs116137861, rs559077429, rs201561226, rs886062936, rs147232364, rs761133472, rs201439151, rs764226906, rs369796910, rs767213092, rs886062939, rs886062940, rs374510116, rs771237247, rs140964621, rs755637526, rs886062938, rs370037242, rs200019819, rs755219802, rs771079681, rs16890758, rs150899388, rs150032875, rs534680895, rs145793923, rs138685137, rs181905023, rs75296105, rs145628190, rs758665687, rs200206750, rs373336198, rs375151253, rs763737257, rs886062942, rs34173100, rs373060967, rs146507999, rs146416859, rs183864227, rs150975400, rs145562489, rs185516533, rs145169484, rs35797405, rs114870847, rs112677283, rs139623406, rs200639644, rs140550365, rs762382303, rs142626656, rs201024919, rs951243751, rs116365681, rs1476190517, rs1238270293, rs372070501, rs1462339318, rs746821020, rs1805004224, rs1312631766, rs987022893, rs1805075039, rs977041324, rs867723923, rs1160580288, rs138767348, rs1805185515, rs115248068, rs191346232, rs547095997, rs1475025499, rs1361354647, rs550204540, rs1805325198, rs1042068456, rs767748017, rs752874877, rs117166178, rs146341756, rs184665931, rs116148295, rs146637140, rs750580242, rs200662932, rs746486928, rs751121091, rs748684817, rs748160803, rs1228458158, rs113948846, rs753586006, rs148942046, rs765958291, rs758602146, rs747027965, rs374102892, rs144724635, rs753931863, rs751319722, rs201312056, rs141069023, rs771419825, rs371259018, rs374623408, rs201980785, rs184006495, rs756075877, rs779654741, rs770743762, rs1829705168, rs780194667, rs761960519, rs544906793, rs776534102, rs1849016140, rs751035092, rs745597765, rs768183148, rs768356739, rs766646963, rs374296178	RCV001165099 RCV001159628 RCV001161009 RCV001164659 RCV001159739 RCV001161138 RCV001164758 RCV001159844 RCV001161250 RCV001161361 RCV001160078 RCV001161487 RCV001158386 RCV001158388 RCV001161596 RCV001163124 RCV001163126 RCV001165205 RCV001158496 RCV001161704 RCV001165327 RCV001165444 RCV001161930 RCV001163452 RCV001163742 RCV001158832 RCV001158833 RCV001160175 RCV003582169 RCV001164226 RCV001159409 RCV001159410 RCV001162405 RCV001164544 RCV001162603 RCV001161249 RCV001164868 RCV001163014 RCV001165100 RCV001165101 RCV001165204 RCV001158606 RCV001158607 RCV001165443 RCV001161929 RCV001163451 RCV001160174 RCV001164222 RCV001164224 RCV001164225 RCV001164450 RCV001160896 RCV001162602 RCV001164660 RCV001162697 RCV001161365 RCV001162912 RCV001164984 RCV001164987 RCV001163125 RCV001165201 RCV001158491 RCV001163228 RCV001163229 RCV001165325 RCV001165326 RCV001163345 RCV001161928 RCV001158829 RCV001160581 RCV001162196 RCV001164223 RCV001160688 RCV001162300 RCV001159406 RCV001162197 RCV001162297 RCV001164333 RCV001160780 RCV001162508 RCV001164453 RCV001159631 RCV001159632 RCV001162700 RCV001164759 RCV001162604 RCV001164661 RCV001159841 RCV001161247 RCV001159956 RCV001161364 RCV001162911 RCV001159737 RCV001159738 RCV001161135 RCV001161248 RCV001164983 RCV001161488 RCV001162799 RCV001161593 RCV001161595 RCV001163122 RCV001161702 RCV001161703 RCV001159957 RCV001163011 RCV001165330 RCV001158387 RCV001161594 RCV001161825 RCV001161828 RCV001158720 RCV001161931 RCV001163739 RCV001165445 RCV001158721 RCV001159736 RCV001163347 RCV001164546 RCV001159843 RCV001164865 RCV001164986 RCV001161490 RCV001165098 RCV001161141 RCV001160075 RCV001163740 RCV001163743 RCV001159955 RCV001161824 RCV001163455 RCV001160579 RCV001159316 RCV001159318 RCV001159321 RCV001159322 RCV001160685 RCV001160686 RCV001162299 RCV001162301 RCV001164330 RCV001164332 RCV001164334 RCV001159408 RCV001160779 RCV001160781 RCV001160784 RCV001162399 RCV001162401 RCV001162403 RCV001164451 RCV001164454 RCV001159515 RCV001159516 RCV001159520 RCV001160895 RCV001160898 RCV001160900 RCV001162504 RCV001162506 RCV001162509 RCV001164547 RCV001159630 RCV001161011 RCV001161013 RCV001161014 RCV001162600 RCV001161140 RCV001164753 RCV001161251 RCV001162793 RCV001162796 RCV001162797 RCV001164863 RCV001164866 RCV001161363 RCV001162910 RCV001160072 RCV001160076 RCV001161491 RCV001163010 RCV001163013 RCV001165203 RCV001158492 RCV001158494 RCV001161706 RCV001165328 RCV001158603 RCV001161827 RCV001163348 RCV001165446 RCV001158716 RCV001158718 RCV001163454 RCV001160177 RCV001160178 RCV001161136 RCV001162699 RCV001164755 RCV001164756 RCV001161360 RCV001163231 RCV001158831
Spherocytosis, Dominant	Benign; Likely benign; Uncertain significance	rs112209933, rs372106603, rs201860615, rs778503475, rs3063734, rs886062935, rs6150565, rs5891167, rs770353869, rs767553149	RCV000306529 RCV000349129 RCV000353785 RCV000324228 RCV000338462 RCV000285567 RCV000391721 RCV000312826 RCV000391716 RCV000405198 RCV000346156 RCV000339281
Thymoma	Benign	rs138948238	RCV005934873
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs34664882	RCV005894110
Uterine carcinosarcoma	Benign; Likely benign	rs34664882	RCV005894109

Associations from Text Mining
Disease Name	Relationship Type	References
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, 36336297, 36647015, 37246216, 37280519, 37385619, 39521890, 9054656, 9235914
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