ENSG00000163554


Homo sapiens

Features
Gene ID: ENSG00000163554
  
Biological name :SPTA1
  
Synonyms : P02549 / spectrin alpha, erythrocytic 1 / SPTA1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q23.1
Gene start: 158610706
Gene end: 158686715
  
Corresponding Affymetrix probe sets: 206937_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357129
Ensembl peptide - ENSP00000495214
NCBI entrez gene - 6708     See in Manteia.
OMIM - 182860
RefSeq - XM_011509919
RefSeq - NM_003126
RefSeq - XM_011509917
RefSeq - XM_011509918
RefSeq - XM_011509916
RefSeq Peptide - NP_003117
swissprot - P02549
Ensembl - ENSG00000163554
  
Related genetic diseases (OMIM): 130600 - Elliptocytosis-2, 130600
  266140 - Pyropoikilocytosis, 266140
  270970 - Spherocytosis, type 3, 270970
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sptan1ENSDARG00000019231Danio rerio
 Spta1ENSMUSG00000026532Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1ENSG0000019769457
Q01082 / SPTBN1 / spectrin beta, non-erythrocytic 1ENSG0000011530620
O15020 / SPTBN2 / spectrin beta, non-erythrocytic 2ENSG0000017389820
SPTB / P11277 / spectrin beta, erythrocyticENSG0000007018219
Q9H254 / SPTBN4 / spectrin beta, non-erythrocytic 4ENSG0000016046018
Q9NRC6 / SPTBN5 / spectrin beta, non-erythrocytic 5ENSG0000013787718
ACTN1 / P12814 / actinin alpha 1ENSG000000721106
ACTN4 / O43707 / actinin alpha 4ENSG000001304026
ACTN2 / P35609 / actinin alpha 2ENSG000000775226
ACTN3 / Q08043 / actinin alpha 3 (gene/pseudogene)ENSG000002487466


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR014837  EF-hand, Ca insensitive
 IPR018159  Spectrin/alpha-actinin
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0002260 lymphocyte homeostasis IMP
 biological_processGO:0006779 porphyrin-containing compound biosynthetic process IMP
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0007009 plasma membrane organization IMP
 biological_processGO:0007015 actin filament organization TAS
 biological_processGO:0007411 axon guidance TAS
 biological_processGO:0008360 regulation of cell shape IMP
 biological_processGO:0030036 actin cytoskeleton organization IMP
 biological_processGO:0030097 hemopoiesis IMP
 biological_processGO:0032092 positive regulation of protein binding IGI
 biological_processGO:0042102 positive regulation of T cell proliferation IMP
 biological_processGO:0051693 actin filament capping IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0008091 spectrin IMP
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IDA
 cellular_componentGO:0014731 spectrin-associated cytoskeleton IMP
 cellular_componentGO:0015629 actin cytoskeleton TAS
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0030863 cortical cytoskeleton IDA
 cellular_componentGO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane TAS
 cellular_componentGO:0032437 cuticular plate IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IPI
 molecular_functionGO:0051015 actin filament binding TAS


Pathways (from Reactome)
Pathway description
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001878 Hemolytic anemia 
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 HP:0004444 Spherocytosis 
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 HP:0004445 Elliptocytosis 
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 HP:0004835 microspherocytosis 
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 HP:0004839 pyropoikilocytosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000145362 ANK2 / Q01484 / ankyrin 2  / complex / reaction
 ENSG00000029534 ANK1 / P16157 / ankyrin 1  / complex / reaction
 ENSG00000163531 NFASC / O94856 / neurofascin  / complex
 ENSG00000149294 NCAM1 / P13591 / neural cell adhesion molecule 1  / reaction / complex
 ENSG00000184009 ACTG1 / P63261 / actin gamma 1  / complex
 ENSG00000075624 ACTB / P60709 / actin beta  / complex
 ENSG00000198910 L1CAM / P32004 / L1 cell adhesion molecule  / complex / reaction
 ENSG00000091129 NRCAM / Q92823 / neuronal cell adhesion molecule  / complex
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000169398 PTK2 / Q05397 / protein tyrosine kinase 2  / reaction / complex
 ENSG00000105711 SCN1B / Q07699 / sodium voltage-gated channel beta subunit 1  / reaction / complex
 ENSG00000197694 Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1  / complex
 ENSG00000075043 KCNQ2 / O43526 / potassium voltage-gated channel subfamily Q member 2  / complex / reaction
 ENSG00000132670 PTPRA / P18433 / protein tyrosine phosphatase, receptor type A  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000183873 SCN5A / Q14524 / sodium voltage-gated channel alpha subunit 5  / reaction / complex
 ENSG00000163554 SPTA1 / P02549 / spectrin alpha, erythrocytic 1  / complex
 ENSG00000184156 KCNQ3 / O43525 / potassium voltage-gated channel subfamily Q member 3  / reaction / complex






 

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