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	6708
Gene name	Spectrin alpha, erythrocytic 1
Gene symbol	SPTA1
Synonyms (NCBI Gene)	EL2HPPHS3SPH3SPTA
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

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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

189

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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

Show/Hide all (39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	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, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005938	Component	Cell cortex	IEA
GO:0006779	Process	Porphyrin-containing compound biosynthetic process	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007015	Process	Actin filament organization	TAS	1634521
GO:0008091	Component	Spectrin	IEA
GO:0008091	Component	Spectrin	TAS	1634521
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	TAS	10950304
GO:0014731	Component	Spectrin-associated cytoskeleton	IDA	379653
GO:0014731	Component	Spectrin-associated cytoskeleton	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	10950304
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030054	Component	Cell junction	IBA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030424	Component	Axon	IEA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0032437	Component	Cuticular plate	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042995	Component	Cell projection	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	TAS	1634521
GO:0051693	Process	Actin filament capping	IEA

MIM	HGNC	e!Ensembl
182860	11272	ENSG00000163554

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

Interactions

View interactions

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

1108

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of blood and blood-forming tissues	Likely pathogenic	rs773168610	RCV001814566
Anemia	Likely pathogenic	rs774632615	RCV001003796
Elliptocytosis 2	Likely pathogenic; Pathogenic	rs1649424538, rs1652590413, rs1651716612, rs121918634, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs1394141324, rs1035389616, rs751026146, rs200830867	RCV001332233 RCV001332228 RCV001843829 RCV000013697 RCV000013703 RCV000013704 RCV000013706 RCV000013707 RCV000013708 RCV000013710 RCV000013712 RCV000013718 RCV005863244 RCV005047158 RCV005429051 RCV002246311
Familial hemolytic anemia	Likely pathogenic; Pathogenic	rs1462060431, rs1553231217	RCV000655916 RCV000655921
Hemolytic anemia	Likely pathogenic; Pathogenic	rs1571436535, rs2022057	RCV001003795 RCV001003797
Hereditary spherocytosis	Likely pathogenic; Pathogenic	rs200830867, rs779537034	RCV001449698 RCV001290767
Hereditary spherocytosis type 3	Pathogenic; Likely pathogenic	rs779174182, rs762088983, rs755630903, rs2101942740, rs2525254041, rs2525391420, rs2525027053, rs2525200185, rs121918641, rs754614154, rs2526221510, rs2526289187, rs1553234309, rs1553232007, rs1394141324 View all (5 more)	RCV001336015 RCV002250762 RCV004789641 RCV002291000 RCV002291026 RCV002291030 RCV002291031 RCV002287301 RCV005862710 RCV000013723 RCV003986022 RCV003986023 RCV000626486 RCV000655919 RCV005863244 RCV005047158 RCV001198343 RCV001804163 RCV001534598 RCV003234029
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Likely pathogenic	rs2101741276	RCV005863448
Lysinuric protein intolerance	Likely pathogenic; Pathogenic	rs749754226	RCV005863451
Prenatal anemia	Likely pathogenic; Pathogenic	rs121918641	RCV000787368
Pyropoikilocytosis, hereditary	Pathogenic; Likely pathogenic	rs121918637, rs121918642, rs121918641, rs757147440, rs1557961718, rs2526221510, rs2526289187, rs1394141324, rs752114200, rs1035389616, rs1571530070, rs200830867	RCV000013702 RCV000013709 RCV000013711 RCV000013713 RCV000013721 RCV000013725 RCV003986022 RCV003986023 RCV000681454 RCV000986443 RCV000986445 RCV000986446 RCV002504518
See cases	Likely pathogenic	rs1064795113	RCV003156096
Spherocytosis	Likely pathogenic; Pathogenic	rs121918634, rs2525391483	RCV004798726 RCV003582174
SPTA1-related disorder	Likely pathogenic; Pathogenic	rs2101900643, rs373695294, rs1652094925, rs121918642, rs121918641, rs2525071082, rs936665671, rs2525200720, rs1653872984, rs758378706, rs774632615, rs200830867	RCV004550276 RCV004738326 RCV004736646 RCV003335031 RCV004737149 RCV004550673 RCV004550779 RCV004552578 RCV004548958 RCV004548967 RCV001265552 RCV004548177

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Uncertain significance	rs16840429, rs199640503	RCV005920221 RCV005891496
Elliptocytosis	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs55832242, rs1553221961, rs5778083, rs3039789, rs59027997, rs767236735, rs34122435, rs750152009, rs554241455, rs368830436, rs34783066, rs766430823, rs548425429, rs886045390, rs111674514	RCV000362831 RCV000261201 RCV000282449 RCV000337543 RCV000299198 RCV000300695 RCV000399229 RCV000278574 RCV000338228 RCV000324918 RCV000302341 RCV000359237 RCV000286299 RCV000320880 RCV000395661 RCV000352392 RCV000365997 RCV000347599 RCV000304312 RCV000265738 RCV000350707 RCV000395660 RCV000327813 RCV000405215 RCV000393570 RCV000296003 RCV000292700
Hereditary spherocytosis type 2	Uncertain significance	rs121918639	RCV001004905
Intellectual developmental disorder, X-linked 111	Conflicting classifications of pathogenicity	rs3737515	RCV005863074
Lung cancer	Conflicting classifications of pathogenicity	rs147184530	RCV005913678
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs3737515	RCV005892637
Malignant tumor of esophagus	Benign	rs16840429	RCV005920222
Melanoma	Uncertain significance	rs374324802	RCV005931254
Spherocytosis, Recessive	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs55832242, rs1553221961, rs5778083, rs3039789, rs59027997, rs767236735, rs34122435, rs750152009, rs554241455, rs368830436, rs34783066, rs766430823, rs548425429, rs886045390, rs111674514	RCV000401159 RCV000360563 RCV000372248 RCV000397738 RCV000390595 RCV000405895 RCV000348543 RCV000322583 RCV000397928 RCV000382102 RCV000398817 RCV000264778 RCV000376518 RCV000380318 RCV000300015 RCV000397704 RCV000271429 RCV000288643 RCV000406917 RCV000365078 RCV000306238 RCV000286947 RCV000291425 RCV000279670 RCV000292434 RCV000317178 RCV000332429
SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE	Benign; Likely benign	rs35948326	RCV000013699
Thymoma	Conflicting classifications of pathogenicity	rs73020251	RCV005891497

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Renal Tubular	Associate	34481427
Acromegaly	Associate	40415137
Adenocarcinoma	Associate	30720096
alpha Mannosidosis	Associate	2794061
Alzheimer Disease	Associate	32345668
Anemia	Associate	2568862
Anemia Diamond Blackfan	Associate	33847457
Anemia Hemolytic	Associate	35650129
Anemia Hemolytic Congenital	Associate	37697358
Anemia Sickle Cell	Associate	19650141
Atherosclerosis	Associate	15961789
beta Thalassemia	Associate	33210974
Breast Neoplasms	Associate	34454393, 34888385
Carcinoma Hepatocellular	Associate	32201399, 32873799, 36753369
Carcinoma Large Cell	Associate	35641209
Carcinoma Pancreatic Ductal	Associate	34454393, 36905103
Cholangiocarcinoma	Associate	33579226
Dehydrated Hereditary Stomatocytosis Pseudohyperkalemia and Perinatal Edema	Associate	34201899
Elliptocytosis 1	Associate	29484404, 3708157
Elliptocytosis Hereditary	Associate	10192450, 2567189, 2568862, 27667160, 2794061, 31145309, 32751168, 3708157, 9354690
Gallstones	Associate	31145309
Gilbert Disease	Associate	35650129
Glioblastoma	Associate	26496030, 31815141
Glomerulonephritis Membranous	Associate	31145309
Glycosuria Renal	Associate	34481427
Hemolysis	Associate	35321643, 37280519
Hemolytic Uremic Syndrome	Associate	29084740
Hyperbilirubinemia	Associate	31145309
Hyperglycemia	Associate	20858683
Jaundice	Associate	30816434, 31145309
Malaria	Associate	35321643
Muscular Atrophy Spinal	Associate	33148303
Necrosis	Associate	36753369
Neoplasm Metastasis	Associate	25863124
Neoplasms	Associate	2550934, 25863124, 30720096, 31199602, 32345668, 33579226
Neoplastic Syndromes Hereditary	Associate	29484404
Pain	Associate	31145309
Prostatic Neoplasms	Associate	32345668
Pseudolymphoma	Associate	17885671
Pyropoikilocytosis Hereditary	Associate	2568862, 27667160, 31038472
Red cell phospholipid defect with hemolysis	Associate	29084740
Respiratory Distress Syndrome	Associate	34393665
Sepsis	Associate	34393665
Small Cell Lung Carcinoma	Associate	25863124, 31199602, 35641209
Spherocytosis Hereditary	Associate	15384986, 30816434, 31038472, 31122244, 31602632, 32266426, 32436265, 33198927, 33210974, 33620149, 34201899, 34481427, 35650129, 37280519, 37385619, 38069343 View all (1 more)
Spherocytosis Type 1	Associate	35568031
Splenomegaly	Associate	31145309
Thyroid Neoplasms	Associate	37223105
Virus Diseases	Associate	32873799

SPTA1 (spectrin alpha, erythrocytic 1)