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SPTA1 (spectrin, alpha, erythrocytic 1)

Identity

Other namesEL2
HPP
HS3
SPH3
SPTA
HGNC (Hugo) SPTA1
LocusID (NCBI) 6708
Location 1q23.1
Location_base_pair Starts at 158580496 and ends at 158656506 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)SPTA1
Ensembl (Hinxton)ENSG00000163554 [Gene_View]  chr1:158580496-158656506 [Contig_View]  SPTA1 [Vega]
ICGC DataPortalENSG00000163554
AceView (NCBI)SPTA1
Genatlas (Paris)SPTA1
WikiGenes6708
SOURCE (Princeton)NM_003126
Genomic and cartography
GoldenPath (UCSC)SPTA1  -  1q23.1   chr1:158580496-158656506 -  1q23.1   [Description]    (hg19-Feb_2009)
EnsemblSPTA1 - 1q23.1 [CytoView]
Mapping of homologs : NCBISPTA1 [Mapview]
OMIM130600   182860   266140   270970   
Gene and transcription
Genbank (Entrez)AF060556 BC156496 BC172497 BU665064 CD616351
RefSeq transcript (Entrez)NM_003126
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_011474 NT_004487 NW_001838531 NW_004929293
Consensus coding sequences : CCDS (NCBI)SPTA1
Cluster EST : UnigeneHs.119825 [ NCBI ]
CGAP (NCI)Hs.119825
Alternative Splicing : Fast-db (Paris)GSHG0002638
Alternative Splicing GalleryENSG00000163554
Gene ExpressionSPTA1 [ NCBI-GEO ]     SPTA1 [ SEEK ]   SPTA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02549 (Uniprot)
NextProtP02549  [Medical]
With graphics : InterProP02549
Splice isoforms : SwissVarP02549 (Swissvar)
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   
Related proteins : CluSTrP02549
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)P02549
PDB (SRS)1OWA    3LBX   
PDB (PDBSum)1OWA    3LBX   
PDB (IMB)1OWA    3LBX   
PDB (RSDB)1OWA    3LBX   
Human Protein AtlasENSG00000163554
Peptide AtlasP02549
HPRD01685
IPIIPI00220741   IPI00641363   
Protein Interaction databases
DIP (DOE-UCLA)P02549
IntAct (EBI)P02549
FunCoupENSG00000163554
BioGRIDSPTA1
IntegromeDBSPTA1
STRING (EMBL)SPTA1
Ontologies - Pathways
QuickGOP02549
Ontology : AmiGOlymphocyte homeostasis  structural constituent of cytoskeleton  calcium ion binding  protein binding  cytosol  porphyrin-containing compound biosynthetic process  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  protein heterodimerization activity  actin filament binding  actin filament capping  
Ontology : EGO-EBIlymphocyte homeostasis  structural constituent of cytoskeleton  calcium ion binding  protein binding  cytosol  porphyrin-containing compound biosynthetic process  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  protein heterodimerization activity  actin filament binding  actin filament capping  
Protein Interaction DatabaseSPTA1
Wikipedia pathwaysSPTA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SPTA1
SNP (GeneSNP Utah)SPTA1
SNP : HGBaseSPTA1
Genetic variants : HAPMAPSPTA1
1000_GenomesSPTA1 
ICGC programENSG00000163554 
CONAN: Copy Number AnalysisSPTA1 
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
DECIPHER (Syndromes)1:158580496-158656506
Mutations and Diseases : HGMDSPTA1
OMIM130600    182860    266140    270970   
MedgenSPTA1
GENETestsSPTA1
Disease Genetic AssociationSPTA1
Huge Navigator SPTA1 [HugePedia]  SPTA1 [HugeCancerGEM]
Genomic VariantsSPTA1  SPTA1 [DGVbeta]
Exome VariantSPTA1
dbVarSPTA1
ClinVarSPTA1
snp3D : Map Gene to Disease6708
General knowledge
Homologs : HomoloGeneSPTA1
Homology/Alignments : Family Browser (UCSC)SPTA1
Phylogenetic Trees/Animal Genes : TreeFamSPTA1
Chemical/Protein Interactions : CTD6708
Chemical/Pharm GKB GenePA36101
Clinical trialSPTA1
Cancer Resource (Charite)ENSG00000163554
Other databases
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
CoreMineSPTA1
GoPubMedSPTA1
iHOPSPTA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 17:58:55 CET 2014

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