SPTA1 (spectrin alpha, erythrocytic 1)

Gene

• Entrez ID: 6708
• Gene name: Spectrin alpha, erythrocytic 1
• Gene symbol: SPTA1
• Synonyms: EL2, HPP, HS3, SPH3, SPTA
• Chromosome: 1
• Chromosome location: 1q23.1
• Summary: This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The enco

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs857716	C>A,G,T	Likely-benign, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs857725	T>A,C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs2022057	G>A,T	Likely-benign, benign, likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs3737515	G>A,C	Likely-benign, benign-likely-benign, likely-pathogenic	Coding sequence variant, synonymous variant, intron variant, genic downstream transcript variant, missense variant
rs7418956	G>A,T	Pathogenic, likely-benign, benign	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs28525570	G>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs35948326	G>T	Pathogenic, benign, benign-likely-benign, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs41273519	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant, genic downstream transcript variant
rs116297260	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs121918634	A>C,G	Likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918635	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918636	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918637	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918638	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918639	G>A	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121918640	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs121918641	C>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918642	G>A,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918643	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121918644	T>C	Pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs138055271	T>C	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs142775522	T>G	Likely-pathogenic, uncertain-significance, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs145054175	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs148912436	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant, non coding transcript variant
rs377659326	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs752114200	C>G,T	Likely-pathogenic	Coding sequence variant, downstream transcript variant, missense variant, synonymous variant, genic downstream transcript variant
rs754614154	T>C,G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs757147440	A>C,G	Pathogenic	Intron variant
rs757679761	->AAC	Pathogenic, likely-pathogenic	Inframe insertion, coding sequence variant, non coding transcript variant
rs774632615	C>T	Likely-pathogenic	Splice donor variant
rs863223305	C>T	Pathogenic	Splice acceptor variant
rs886041244	T>A,C	Pathogenic	Stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1035389616	C>T	Pathogenic	Splice donor variant
rs1064795113	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1131691810	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1394141324	G>A	Pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs1462060431	C>A,G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1553231217	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1553232007	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant
rs1553234309	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557961718	C>T	Pathogenic	Intron variant
rs1571436535	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1571530070	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022113	hsa-miR-124-3p	Microarray	18668037
MIRT610630	hsa-miR-8485	HITS-CLIP	22927820
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	22927820
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	22927820
MIRT610630	hsa-miR-8485	HITS-CLIP	23313552
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23313552
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23313552
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT663119	hsa-miR-618	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663117	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT663116	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT663115	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT663114	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT663113	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT663112	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	27418678
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	27418678
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	27418678
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	27418678
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	27418678
MIRT646058	hsa-miR-4801	HITS-CLIP	27418678
MIRT646058	hsa-miR-4801	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	27418678
MIRT610630	hsa-miR-8485	HITS-CLIP	22927820
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	22927820
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	22927820
MIRT610630	hsa-miR-8485	HITS-CLIP	23313552
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23313552
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23313552
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT663119	hsa-miR-618	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663118	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT663117	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT663116	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT663115	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT663114	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT663113	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT663112	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT646059	hsa-miR-4731-3p	HITS-CLIP	23824327
MIRT646058	hsa-miR-4801	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT610630	hsa-miR-8485	HITS-CLIP	23824327
MIRT610628	hsa-miR-15a-3p	HITS-CLIP	23824327
MIRT610627	hsa-miR-4529-5p	HITS-CLIP	23824327
MIRT1386623	hsa-miR-150	CLIP-seq
MIRT1386624	hsa-miR-4713-5p	CLIP-seq
MIRT1386625	hsa-miR-532-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1634521
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9593709, 12820899, 20197550, 32296183
GO:0005829	Component	Cytosol	TAS
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007015	Process	Actin filament organization	TAS	1634521
GO:0007411	Process	Axon guidance	TAS
GO:0008091	Component	Spectrin	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0015629	Component	Actin cytoskeleton	TAS	10950304
GO:0030097	Process	Hemopoiesis	IEA
GO:0030424	Component	Axon	IEA
GO:0031235	Component	Intrinsic component of the cytoplasmic side of the plasma membrane	TAS	10950304
GO:0032092	Process	Positive regulation of protein binding	IEA
GO:0032437	Component	Cuticular plate	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0051015	Function	Actin filament binding	TAS	1634521
GO:0051693	Process	Actin filament capping	IEA

Other IDs

• MIM: 182860
• HGNC: 11272
• e!Ensembl: ENSG00000163554

Protein

• UniProt ID: P02549
• Protein name: Spectrin alpha chain, erythrocytic 1 (Erythroid alpha-spectrin)
• Protein function: Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane.
• PDB: 1OWA, 3LBX, 5J4O
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00435	Spectrin	53 → 156	Spectrin repeat	Domain
  PF00435	Spectrin	158 → 262	Spectrin repeat	Domain
  PF00435	Spectrin	264 → 368	Spectrin repeat	Domain
  PF00435	Spectrin	370 → 474	Spectrin repeat	Domain
  PF00435	Spectrin	476 → 580	Spectrin repeat	Domain
  PF00435	Spectrin	582 → 685	Spectrin repeat	Domain
  PF00435	Spectrin	687 → 791	Spectrin repeat	Domain
  PF00435	Spectrin	793 → 897	Spectrin repeat	Domain
  PF00435	Spectrin	899 → 979	Spectrin repeat	Domain
  PF00018	SH3_1	983 → 1028	SH3 domain	Domain
  PF00435	Spectrin	1082 → 1181	Spectrin repeat	Domain
  PF00435	Spectrin	1183 → 1287	Spectrin repeat	Domain
  PF00435	Spectrin	1289 → 1393	Spectrin repeat	Domain
  PF00435	Spectrin	1395 → 1498	Spectrin repeat	Domain
  PF00435	Spectrin	1500 → 1605	Spectrin repeat	Domain
  PF00435	Spectrin	1607 → 1711	Spectrin repeat	Domain
  PF00435	Spectrin	1713 → 1817	Spectrin repeat	Domain
  PF00435	Spectrin	1819 → 1926	Spectrin repeat	Domain
  PF00435	Spectrin	1928 → 2033	Spectrin repeat	Domain
  PF00435	Spectrin	2043 → 2147	Spectrin repeat	Domain
  PF00435	Spectrin	2157 → 2258	Spectrin repeat	Domain
  PF08726	EFhand_Ca_insen	2350 → 2418	Ca2+ insensitive EF hand	Domain

• Sequence:

  MEQFPKETVVESSGPKVLETAEEIQERRQEVLTRYQSFKERVAERGQKLEDSYHLQVFKR
  DADDLGKWIMEKVNILTDKSYEDPTNIQGKYQKHQSLEAEVQTKSRLMSELEKTREERFT
  MGHSAHEETKAHIEELRHLWDLLLELTLEKGDQLLRALKFQQYVQECADILEWIGDKEAI
  ATSVELGEDWERTEVLHKKFEDFQVELVAKEGRVVEVNQYANECAEENHPDLPLIQSKQN
  EVNAAWERLRGLALQRQKALSNAANLQRFKRDVTEAIQWIKEKEPVLTSEDYGKDLVASE
  GLFHSHKGLERNLAVMSDKVKELCAKAEKLTLSHPSDAPQIQEMKEDLVSSWEHIRALAT
  SRYEKLQATYWYHRFSSDFDELSGWMNEKTAAINADELPTDVAGGEVLLDRHQQHKHEID
  SYDDRFQSADETGQDLVNANHEASDEVREKMEILDNNWTALLELWDERHRQYEQCLDFHL
  FYRDSEQVDSWMSRQEAFLENEDLGNSLGSAEALLQKHEDFEEAFTAQEEKIITVDKTAT
  KLIGDDHYDSENIKAIRDGLLARRDALREKAATRRRLLKESLLLQKLYEDSDDLKNWINK
  KKKLADDEDYKDIQNLKSRVQKQQVFEKELAVNKTQLENIQKTGQEMIEGGHYASDNVTT
  RLSEVASLWEELLEATKQKGTQLHEANQQLQFENNAEDLQRWLEDVEWQVTSEDYGKGLA
  EVQNRLRKHGLLESAVAARQDQVDILTDLAAYFEEIGHPDSKDIRARQESLVCRFEALKE
  PLATRKKKLLDLLHLQLICRDTEDEEAWIQETEPSATSTYLGKDLIASKKLLNRHRVILE
  NIASHEPRIQEITERGNKMVEEGHFAAEDVASRVKSLNQNMESLRARAARRQNDLEANVQ
  FQQYLADLHEAETWIREKEPIVDNTNYGADEEAAGALLKKHEAFLLDLNSFGDSMKALRN
  QANACQQQQAAPVEGVAGEQRVMALYDFQARSPREVTMKKGDVLTLLSSINKDWWKVEAA
  DHQGIVPAVYVRRLAHDEFPMLPQRRREEPGNITQRQEQIENQYRSLLDRAEERRRRLLQ
  RYNEFLLAYEAGDMLEWIQEKKAENTGVELDDVWELQKKFDEFQKDLNTNEPRLRDINKV
  ADDLLFEGLLTPEGAQIRQELNSRWGSLQRLADEQRQLLGSAHAVEVFHREADDTKEQIE
  KKCQALSAADPGSDLFSVQALQRRHEGFERDLVPLGDKVTILGETAERLSESHPDATEDL
  QRQKMELNEAWEDLQGRTKDRKESLNEAQKFYLFLSKARDLQNWISSIGGMVSSQELAED
  LTGIEILLERHQEHRADMEAEAPTFQALEDFSAELIDSGHHASPEIEKKLQAVKLERDDL
  EKAWEKRKKILDQCLELQMFQGNCDQVESWMVARENSLRSDDKSSLDSLEALMKKRDDLD
  KAITAQEGKITDLEHFAESLIADEHYAKEEIATRLQRVLDRWKALKAQLIDERTKLGDYA
  NLKQFYRDLEELEEWISEMLPTACDESYKDATNIQRKYLKHQTFAHEVDGRSEQVHGVIN
  LGNSLIECSACDGNEEAMKEQLEQLKEHWDHLLERTNDKGKKLNEASRQQRFNTSIRDFE
  FWLSEAETLLAMKDQARDLASAGNLLKKHQLLEREMLAREDALKDLNTLAEDLLSSGTFN
  VDQIVKKKDNVNKRFLNVQELAAAHHEKLKEAYALFQFFQDLDDEESWIEEKLIRVSSQD
  YGRDLQGVQNLLKKHKRLEGELVAHEPAIQNVLDMAEKLKDKAAVGQEEIQLRLAQFVEH
  WEKLKELAKARGLKLEESLEYLQFMQNAEEEEAWINEKNALAVRGDCGDTLAATQSLLMK
  HEALENDFAVHETRVQNVCAQGEDILNKVLQEESQNKEISSKIEALNEKTPSLAKAIAAW
  KLQLEDDYAFQEFNWKADVVEAWIADKETSLKTNGNGADLGDFLTLLAKQDTLDASLQSF
  QQERLPEITDLKDKLISAQHNQSKAIEERYAALLKRWEQLLEASAVHRQKLLEKQLPLQK
  AEDLFVEFAHKASALNNWCEKMEENLSEPVHCVSLNEIRQLQKDHEDFLASLARAQADFK
  CLLELDQQIKALGVPSSPYTWLTVEVLERTWKHLSDIIEEREQELQKEEARQVKNFEMCQ
  EFEQNASTFLQWILETRAYFLDGSLLKETGTLESQLEANKRKQKEIQAMKRQLTKIVDLG
  DNLEDALILDIKYSTIGLAQQWDQLYQLGLRMQHNLEQQIQAKDIKGVSEETLKEFSTIY
  KHFDENLTGRLTHKEFRSCLRGLNYYLPMVEEDEHEPKFEKFLDAVDPGRKGYVSLEDYT
  AFLIDKESENIKSSDEIENAFQALAEGKSYITKEDMKQALTPEQVSFCATHMQQYMDPRG
  RSHLSGYDYVGFTNSYFGN

• Sequence length: 2419

Pathways

Reactome:

NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic, Anemia, Hemolytic, Congenital, Anemia, hereditary spherocytic hemolytic, stomatocytic anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	23664421
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Elliptocytosis	Elliptocytosis, Hereditary, ELLIPTOCYTOSIS 2 (disorder)	rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564	23664421, 1679439, 2384601, 8193371, 8941647, 2568861, 1638030, 1541680, 8364215, 2794061, 2568862, 1878597, 8018926, 7772539
Hereditary elliptocytosis	Hereditary elliptocytosis	rs869025285
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	rs121918647, rs757679761, rs121918637, rs121918642, rs121918641, rs757147440, rs1557961718, rs1394141324, rs752114200, rs1035389616, rs1571530070	8941647, 1679439, 1878597
Hereditary spherocytosis	Hereditary spherocytosis	rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs754614154, rs266257354, rs121917734, rs266257355, rs115998465, rs387906566, rs121912741, rs121912742, rs56361140, rs121912750, rs28931584, rs28931585, rs121912755, rs143682977, rs786204766, rs200386310, rs1553234309, rs1555366607, rs1555366592, rs1553232007, rs1554522035, rs777701149, rs1554567249, rs1554578304, rs1554627073, rs1555367359, rs1555367789, rs150471537, rs1555369657, rs1555370967, rs866727908, rs1555596072, rs1555596165, rs1555596757, rs1586144223, rs1563502820, rs1566754467, rs377659326, rs1594773586, rs1586072383, rs750820522, rs1586145051, rs1594767593, rs1586114714, rs1345709572	23664421
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Hyperbilirubinemia	Hyperbilirubinemia, Hyperbilirubinemia, Neonatal	rs34993780, rs587784535, rs797046090, rs797046091
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Restrictive cardiomyopathy	Restrictive cardiomyopathy	rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583
Spherocytosis	SPHEROCYTOSIS, TYPE 3 (disorder)	rs786205242, rs786205243, rs786205244, rs121918634	27667160, 8941647, 1679439
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916

Unknown
Disease name	Disease term	dbSNP ID	References
Fibrinogen deficiency	Fibrinogen Deficiency
Frontal bossing	Frontal bossing
Gout	Gout
Microspherocytosis	Microspherocytosis