Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SPTA1 (spectrin alpha, erythrocytic 1)

Identity

Alias (NCBI)EL2
HPP
HS3
SPH3
SPTA
HGNC (Hugo) SPTA1
HGNC Alias symbEL2
HGNC Alias nameelliptocytosis 2
HGNC Previous namespectrin, alpha, erythrocytic 1 (elliptocytosis 2)
LocusID (NCBI) 6708
Atlas_Id 42382
Location 1q23.1  [Link to chromosome band 1q23]
Location_base_pair Starts at 158610704 and ends at 158686715 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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
LRG (Locus Reference Genomic)LRG_1131
Cards
Entrez_Gene (NCBI)SPTA1    spectrin alpha, erythrocytic 1
AliasesEL2; HPP; HS3; SPH3; 
SPTA
GeneCards (Weizmann)SPTA1
Ensembl hg19 (Hinxton)ENSG00000163554 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163554 [Gene_View]  ENSG00000163554 [Sequence]  chr1:158610704-158686715 [Contig_View]  SPTA1 [Vega]
ICGC DataPortalENSG00000163554
TCGA cBioPortalSPTA1
AceView (NCBI)SPTA1
Genatlas (Paris)SPTA1
SOURCE (Princeton)SPTA1
Genetics Home Reference (NIH)SPTA1
Genomic and cartography
GoldenPath hg38 (UCSC)SPTA1  -     chr1:158610704-158686715 -  1q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPTA1  -     1q23.1   [Description]    (hg19-Feb_2009)
GoldenPathSPTA1 - 1q23.1 [CytoView hg19]  SPTA1 - 1q23.1 [CytoView hg38]
ImmunoBaseENSG00000163554
Genome Data Viewer NCBISPTA1 [Mapview hg19]  
OMIM130600   182860   266140   270970   
Gene and transcription
Genbank (Entrez)AF060556 BU665064 CD616351 M11049 M61877
RefSeq transcript (Entrez)NM_003126
Consensus coding sequences : CCDS (NCBI)SPTA1
Gene ExpressionSPTA1 [ NCBI-GEO ]   SPTA1 [ EBI - ARRAY_EXPRESS ]   SPTA1 [ SEEK ]   SPTA1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPTA1 [ Firebrowse - Broad ]
GenevisibleExpression of SPTA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6708
GTEX Portal (Tissue expression)SPTA1
Human Protein AtlasENSG00000163554-SPTA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP02549   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP02549  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP02549
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-like_dom_sf    SH3_domain    Spectrin/alpha-actinin    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)SH3 (SM00326)  SPEC (SM00150)  
Conserved Domain (NCBI)SPTA1
PDB (RSDB)1OWA    3LBX    5J4O   
PDB Europe1OWA    3LBX    5J4O   
PDB (PDBSum)1OWA    3LBX    5J4O   
PDB (IMB)1OWA    3LBX    5J4O   
Structural Biology KnowledgeBase1OWA    3LBX    5J4O   
SCOP (Structural Classification of Proteins)1OWA    3LBX    5J4O   
CATH (Classification of proteins structures)1OWA    3LBX    5J4O   
SuperfamilyP02549
AlphaFold pdb e-kbP02549   
Human Protein Atlas [tissue]ENSG00000163554-SPTA1 [tissue]
HPRD01685
Protein Interaction databases
DIP (DOE-UCLA)P02549
IntAct (EBI)P02549
BioGRIDSPTA1
STRING (EMBL)SPTA1
ZODIACSPTA1
Ontologies - Pathways
QuickGOP02549
Ontology : AmiGOMAPK cascade  lymphocyte homeostasis  structural constituent of cytoskeleton  calcium ion binding  protein binding  cytosol  porphyrin-containing compound biosynthetic process  endoplasmic reticulum to Golgi vesicle-mediated transport  plasma membrane organization  actin filament organization  axon guidance  spectrin  regulation of cell shape  spectrin-associated cytoskeleton  actin cytoskeleton  hemopoiesis  axon  intrinsic component of the cytoplasmic side of the plasma membrane  positive regulation of protein binding  cuticular plate  positive regulation of T cell proliferation  actin filament binding  actin filament capping  
Ontology : EGO-EBIMAPK cascade  lymphocyte homeostasis  structural constituent of cytoskeleton  calcium ion binding  protein binding  cytosol  porphyrin-containing compound biosynthetic process  endoplasmic reticulum to Golgi vesicle-mediated transport  plasma membrane organization  actin filament organization  axon guidance  spectrin  regulation of cell shape  spectrin-associated cytoskeleton  actin cytoskeleton  hemopoiesis  axon  intrinsic component of the cytoplasmic side of the plasma membrane  positive regulation of protein binding  cuticular plate  positive regulation of T cell proliferation  actin filament binding  actin filament capping  
NDEx NetworkSPTA1
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 : MitelmanFCGR2A::SPTA1 [1q23.3/1q23.1]  
Fusion : MitelmanSPTA1::GRIP1 [1q23.1/12q14.3]  
Fusion : QuiverSPTA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPTA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPTA1
dbVarSPTA1
ClinVarSPTA1
MonarchSPTA1
1000_GenomesSPTA1 
Exome Variant ServerSPTA1
GNOMAD BrowserENSG00000163554
Varsome BrowserSPTA1
ACMGSPTA1 variants
VarityP02549
Genomic Variants (DGV)SPTA1 [DGVbeta]
DECIPHERSPTA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPTA1 
Mutations
ICGC Data PortalSPTA1 
TCGA Data PortalSPTA1 
Broad Tumor PortalSPTA1
OASIS PortalSPTA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPTA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSPTA1
Mutations and Diseases : HGMDSPTA1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSPTA1
DgiDB (Drug Gene Interaction Database)SPTA1
DoCM (Curated mutations)SPTA1
CIViC (Clinical Interpretations of Variants in Cancer)SPTA1
Cancer3DSPTA1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM130600    182860    266140    270970   
Orphanet3252    3655   
DisGeNETSPTA1
MedgenSPTA1
Genetic Testing Registry SPTA1
NextProtP02549 [Medical]
GENETestsSPTA1
Target ValidationSPTA1
Huge Navigator SPTA1 [HugePedia]
ClinGenSPTA1
Clinical trials, drugs, therapy
MyCancerGenomeSPTA1
Protein Interactions : CTDSPTA1
Pharm GKB GenePA36101
PharosP02549
Clinical trialSPTA1
Miscellaneous
canSAR (ICR)SPTA1
HarmonizomeSPTA1
ARCHS4SPTA1
DataMed IndexSPTA1
Probes
Litterature
PubMed149 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSPTA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sun Jan 16 18:35:23 CET 2022

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