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SPTA1 (spectrin alpha, erythrocytic 1)

Identity

Other namesEL2
HPP
HS3
SPH3
SPTA
HGNC (Hugo) SPTA1
LocusID (NCBI) 6708
Atlas_Id 42382
Location 1q23.1
Location_base_pair Starts at 158580496 and ends at 158656506 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ERP27 (12p12.3) / SPTA1 (1q23.1)FCGR2A (1q23.3) / SPTA1 (1q23.1)SPTA1 (1q23.1) / GRIP1 (12q14.3)
FCGR2A 1q23.3 / SPTA1 1q23.1SPTA1 1q23.1 / GRIP1 12q14.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SPTA1   11272
Cards
Entrez_Gene (NCBI)SPTA1  6708  spectrin alpha, erythrocytic 1
AliasesEL2; HPP; HS3; SPH3; 
SPTA
GeneCards (Weizmann)SPTA1
Ensembl hg19 (Hinxton)ENSG00000163554 [Gene_View]  chr1:158580496-158656506 [Contig_View]  SPTA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163554 [Gene_View]  chr1:158580496-158656506 [Contig_View]  SPTA1 [Vega]
ICGC DataPortalENSG00000163554
TCGA cBioPortalSPTA1
AceView (NCBI)SPTA1
Genatlas (Paris)SPTA1
WikiGenes6708
SOURCE (Princeton)SPTA1
Genomic and cartography
GoldenPath hg19 (UCSC)SPTA1  -     chr1:158580496-158656506 -  1q23.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPTA1  -     1q23.1   [Description]    (hg38-Dec_2013)
EnsemblSPTA1 - 1q23.1 [CytoView hg19]  SPTA1 - 1q23.1 [CytoView hg38]
Mapping of homologs : NCBISPTA1 [Mapview hg19]  SPTA1 [Mapview hg38]
OMIM130600   182860   266140   270970   
Gene and transcription
Genbank (Entrez)AF060556 BC156496 BC172497 BU665064 CD616351
RefSeq transcript (Entrez)NM_003126
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_011474 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)SPTA1
Cluster EST : UnigeneHs.119825 [ NCBI ]
CGAP (NCI)Hs.119825
Alternative Splicing GalleryENSG00000163554
Gene ExpressionSPTA1 [ NCBI-GEO ]   SPTA1 [ EBI - ARRAY_EXPRESS ]   SPTA1 [ SEEK ]   SPTA1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6708
GTEX Portal (Tissue expression)SPTA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02549 (Uniprot)
NextProtP02549  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02549
Splice isoforms : SwissVarP02549 (Swissvar)
PhosPhoSitePlusP02549
Domaine pattern : Prosite (Expaxy)EF_HAND_2 (PS50222)    SH3 (PS50002)   
Domains : Interpro (EBI)EF-hand-dom_pair    EF-hand_Ca_insen    EF_hand_dom    SH3_domain    Spectrin/alpha-actinin    Spectrin_alpha_SH3    Spectrin_repeat   
Domain families : Pfam (Sanger)EFhand_Ca_insen (PF08726)    SH3_1 (PF00018)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam08726    pfam00018    pfam00435   
Domain families : Smart (EMBL)EFh (SM00054)  SH3 (SM00326)  SPEC (SM00150)  
DMDM Disease mutations6708
Blocks (Seattle)SPTA1
PDB (SRS)1OWA    3LBX   
PDB (PDBSum)1OWA    3LBX   
PDB (IMB)1OWA    3LBX   
PDB (RSDB)1OWA    3LBX   
Structural Biology KnowledgeBase1OWA    3LBX   
SCOP (Structural Classification of Proteins)1OWA    3LBX   
CATH (Classification of proteins structures)1OWA    3LBX   
SuperfamilyP02549
Human Protein AtlasENSG00000163554
Peptide AtlasP02549
HPRD01685
IPIIPI00220741   IPI00641363   
Protein Interaction databases
DIP (DOE-UCLA)P02549
IntAct (EBI)P02549
FunCoupENSG00000163554
BioGRIDSPTA1
STRING (EMBL)SPTA1
ZODIACSPTA1
Ontologies - Pathways
QuickGOP02549
Ontology : AmiGOMAPK cascade  lymphocyte homeostasis  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  calcium ion binding  protein binding  cytosol  porphyrin-containing compound biosynthetic process  ER to Golgi vesicle-mediated transport  plasma membrane organization  actin filament organization  axon guidance  spectrin  regulation of cell shape  spectrin-associated cytoskeleton  actin cytoskeleton  hemopoiesis  intrinsic component of the cytoplasmic side of the plasma membrane  positive regulation of protein binding  cuticular plate  positive regulation of T cell proliferation  positive regulation of GTPase activity  protein heterodimerization activity  actin filament binding  actin filament capping  
Ontology : EGO-EBIMAPK cascade  lymphocyte homeostasis  Ras guanyl-nucleotide exchange factor activity  structural constituent of cytoskeleton  calcium ion binding  protein binding  cytosol  porphyrin-containing compound biosynthetic process  ER to Golgi vesicle-mediated transport  plasma membrane organization  actin filament organization  axon guidance  spectrin  regulation of cell shape  spectrin-associated cytoskeleton  actin cytoskeleton  hemopoiesis  intrinsic component of the cytoplasmic side of the plasma membrane  positive regulation of protein binding  cuticular plate  positive regulation of T cell proliferation  positive regulation of GTPase activity  protein heterodimerization activity  actin filament binding  actin filament capping  
NDEx Network
Atlas of Cancer Signalling NetworkSPTA1
Wikipedia pathwaysSPTA1
Orthology - Evolution
OrthoDB6708
GeneTree (enSembl)ENSG00000163554
Phylogenetic Trees/Animal Genes : TreeFamSPTA1
Homologs : HomoloGeneSPTA1
Homology/Alignments : Family Browser (UCSC)SPTA1
Gene fusions - Rearrangements
Fusion: TCGAFCGR2A 1q23.3 SPTA1 1q23.1 BRCA
Fusion: TCGASPTA1 1q23.1 GRIP1 12q14.3 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerSPTA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTA1
dbVarSPTA1
ClinVarSPTA1
1000_GenomesSPTA1 
Exome Variant ServerSPTA1
ExAC (Exome Aggregation Consortium)SPTA1 (select the gene name)
Genetic variants : HAPMAP6708
Genomic Variants (DGV)SPTA1 [DGVbeta]
Mutations
ICGC Data PortalSPTA1 
TCGA Data PortalSPTA1 
Broad Tumor PortalSPTA1
OASIS PortalSPTA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTA1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPTA1
DgiDB (Drug Gene Interaction Database)SPTA1
DoCM (Curated mutations)SPTA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPTA1 (select a term)
intoGenSPTA1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:158580496-158656506  ENSG00000163554
CONAN: Copy Number AnalysisSPTA1 
Mutations and Diseases : HGMDSPTA1
OMIM130600    182860    266140    270970   
MedgenSPTA1
Genetic Testing Registry SPTA1
NextProtP02549 [Medical]
TSGene6708
GENETestsSPTA1
Huge Navigator SPTA1 [HugePedia]
snp3D : Map Gene to Disease6708
BioCentury BCIQSPTA1
ClinGenSPTA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6708
Chemical/Pharm GKB GenePA36101
Clinical trialSPTA1
Miscellaneous
canSAR (ICR)SPTA1 (select the gene name)
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPTA1
EVEXSPTA1
GoPubMedSPTA1
iHOPSPTA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:22:45 CEST 2016

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