AutismKB 2.0

Annotation Details for SPTA1


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Basic Information Top
Gene Symbol:SPTA1 ( EL2,HPP,HS3,SPH3,SPTA )
Gene Full Name: spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Band: 1q23.1
Quick LinksEntrez ID:6708; OMIM: 182860; Uniprot ID:SPTA1_HUMAN; ENSEMBL ID: ENSG00000163554; HGNC ID: 11272
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0008091IEA-spectrin-
GO:0014731IDA-spectrin-associated cytoskeleton379653
GO:0015629TAS-actin cytoskeleton10950304
GO:0030424IEA-axon-
GO:0031235TAS-intrinsic component of the cytoplasmic side of the plasma membrane10950304
GO:0032437IEA-cuticular plate-
GO ID Evidence Qualifier GO_term References
GO:0005088TAS-Ras guanyl-nucleotide exchange factor activity-
GO:0005200TAS-structural constituent of cytoskeleton1634521
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding9593709
GO:0046982IEA-protein heterodimerization activity-
GO:0051015TAS-actin filament binding1634521
GO ID Evidence Qualifier GO_term References
GO:0000165TAS-MAPK cascade-
GO:0002260IEA-lymphocyte homeostasis-
GO:0006779IEA-porphyrin-containing compound biosynthetic process-
GO:0006888TAS-ER to Golgi vesicle-mediated transport-
GO:0007009IEA-plasma membrane organization-
GO:0007015TAS-actin filament organization1634521
GO:0007411TAS-axon guidance-
GO:0008360IEA-regulation of cell shape-
GO:0030097IEA-hemopoiesis-
GO:0032092IEA-positive regulation of protein binding-
GO:0042102IEA-positive regulation of T cell proliferation-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0051693IEA-actin filament capping-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SPTA1ABL11065439593709 Affinity Capture-Western; Reconstituted Complex
SPTA1ABL11125869593709 Affinity Capture-Western; Reconstituted Complex
SPTA1ADD11066313600811 Co-fractionation
SPTA1ADD11125863600811 Co-fractionation
SPTA1ANK11125862971657 Reconstituted Complex
SPTA1ANK11067832971657 Reconstituted Complex
SPTA1ERCC411258612571280 Affinity Capture-Western
SPTA1ERCC410838412571280 Affinity Capture-Western
SPTA1FANCA10847212571280 Affinity Capture-Western
SPTA1FANCA11258612571280 Affinity Capture-Western
SPTA1PLEC1125863027087 Reconstituted Complex
SPTA1PLEC1113553027087 Reconstituted Complex
SPTA1SLC9A211243910187839 Reconstituted Complex
SPTA1SLC9A211258610187839 Reconstituted Complex
SPTBSPTA11125861634521 Protein-peptide
SPTBSPTA11125881634521 Protein-peptide
EZRSPTA111258614625392 Affinity Capture-MS
EZRSPTA111327114625392 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98385
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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