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SEC31A (SEC31 homolog A, COPII coat complex component)

Identity

Alias (NCBI)ABP125
ABP130
HSPC275
HSPC334
NEDSOSB
SEC31L1
HGNC (Hugo) SEC31A
HGNC Alias symbKIAA0905
ABP125
ABP130
HGNC Previous nameSEC31L1
HGNC Previous nameSEC31-like 1 (S. cerevisiae)
 Sec31 homolog A (S. cerevisiae)
 SEC31 homolog A (S. cerevisiae)
LocusID (NCBI) 22872
Atlas_Id 42237
Location 4q21.22  [Link to chromosome band 4q21]
Location_base_pair Starts at 82818509 and ends at 82891280 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)
CD101 (1p13.1) / SEC31A (4q21.22)CTPS2 (Xp22.2) / SEC31A (4q21.22)JADE2 (5q31.1) / SEC31A (4q21.22)
MTA3 (2p21) / SEC31A (4q21.22)SEC31A (4q21.22) / ALK (2p23.2)SEC31A (4q21.22) / ARFGAP1 (20q13.33)
SEC31A (4q21.22) / ARPC5 (1q25.3)SEC31A (4q21.22) / BCKDHB (6q14.1)SEC31A (4q21.22) / C6orf62 (6p22.3)
SEC31A (4q21.22) / FUBP1 (1p31.1)SEC31A (4q21.22) / JAK2 (9p24.1)SEC31A (4q21.22) / LRCH4 (7q22.1)
SEC31A (4q21.22) / MEMO1 (2p23.1)SEC31A (4q21.22) / MUC7 (4q13.3)SEC31A (4q21.22) / PPP2R2C (4p16.1)
SEC31A (4q21.22) / PTEN (10q23.31)SEC31A (4q21.22) / SEC31A (4q21.22)SMC1A (Xp11.22) / SEC31A (4q21.22)
SEC31A JAK2SEC31A 4q21.22 / MUC7 4q13.3

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 4 ]
  ALK -positive diffuse large B-cell lymphoma
t(4;9)(q21.22;p24) SEC31A/JAK2
t(2;4)(p23;q21) SEC31A/ALK
t(4;12)(q21;q13) KMT2D/SEC31A

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Soft Tissues: Inflammatory myofibroblastic tumor
Soft tissue tumors: an overview
t(4;4)(q13;q21) SEC31A/MUC7
t(4;17)(q21;p13) SEC31A/USP6

External links

Nomenclature
HGNC (Hugo)SEC31A   17052
Cards
Entrez_Gene (NCBI)SEC31A  22872  SEC31 homolog A, COPII coat complex component
AliasesABP125; ABP130; HSPC275; HSPC334; 
NEDSOSB; SEC31L1
GeneCards (Weizmann)SEC31A
Ensembl hg19 (Hinxton)ENSG00000138674 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138674 [Gene_View]  ENSG00000138674 [Sequence]  chr4:82818509-82891280 [Contig_View]  SEC31A [Vega]
ICGC DataPortalENSG00000138674
TCGA cBioPortalSEC31A
AceView (NCBI)SEC31A
Genatlas (Paris)SEC31A
WikiGenes22872
SOURCE (Princeton)SEC31A
Genetics Home Reference (NIH)SEC31A
Genomic and cartography
GoldenPath hg38 (UCSC)SEC31A  -     chr4:82818509-82891280 -  4q21.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SEC31A  -     4q21.22   [Description]    (hg19-Feb_2009)
GoldenPathSEC31A - 4q21.22 [CytoView hg19]  SEC31A - 4q21.22 [CytoView hg38]
ImmunoBaseENSG00000138674
genome Data Viewer NCBISEC31A [Mapview hg19]  
OMIM610257   618651   
Gene and transcription
Genbank (Entrez)AB018358 AB018359 AB020712 AF139184 AF161393
RefSeq transcript (Entrez)NM_001077206 NM_001077207 NM_001077208 NM_001191049 NM_001300744 NM_001300745 NM_001318119 NM_001318120 NM_014933 NM_016211
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SEC31A
Alternative Splicing GalleryENSG00000138674
Gene ExpressionSEC31A [ NCBI-GEO ]   SEC31A [ EBI - ARRAY_EXPRESS ]   SEC31A [ SEEK ]   SEC31A [ MEM ]
Gene Expression Viewer (FireBrowse)SEC31A [ Firebrowse - Broad ]
GenevisibleExpression of SEC31A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22872
GTEX Portal (Tissue expression)SEC31A
Human Protein AtlasENSG00000138674-SEC31A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94979   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94979  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94979
Splice isoforms : SwissVarO94979
PhosPhoSitePlusO94979
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)ACE1_Sec16_Sec31    SEC31-like    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Sec16_C (PF12931)   
Domain families : Pfam (NCBI)pfam12931   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)SEC31A
DMDM Disease mutations22872
Blocks (Seattle)SEC31A
PDB (RSDB)3WXA   
PDB Europe3WXA   
PDB (PDBSum)3WXA   
PDB (IMB)3WXA   
Structural Biology KnowledgeBase3WXA   
SCOP (Structural Classification of Proteins)3WXA   
CATH (Classification of proteins structures)3WXA   
SuperfamilyO94979
Human Protein Atlas [tissue]ENSG00000138674-SEC31A [tissue]
Peptide AtlasO94979
HPRD15314
IPIIPI00746182   IPI00795507   IPI00305152   IPI00515103   IPI00853220   IPI00445429   IPI00966405   IPI00853290   IPI00965360   IPI00965105   IPI00966669   IPI00965862   IPI00967743   IPI00964833   IPI00964293   IPI00967422   IPI00968144   IPI01022914   IPI00965367   IPI00964020   IPI00964547   IPI00966648   IPI00966964   IPI00967493   
Protein Interaction databases
DIP (DOE-UCLA)O94979
IntAct (EBI)O94979
FunCoupENSG00000138674
BioGRIDSEC31A
STRING (EMBL)SEC31A
ZODIACSEC31A
Ontologies - Pathways
QuickGOO94979
Ontology : AmiGOGolgi membrane  antigen processing and presentation of peptide antigen via MHC class I  structural molecule activity  protein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  cytosol  intracellular protein transport  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  endoplasmic reticulum organization  ER to Golgi transport vesicle membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  vesicle coat  COPII vesicle coat  COPII vesicle coat  COPII vesicle coat  COPII-coated ER to Golgi transport vesicle  IRE1-mediated unfolded protein response  intracellular membrane-bounded organelle  COPII vesicle coating  calcium-dependent protein binding  perinuclear region of cytoplasm  response to calcium ion  endoplasmic reticulum exit site  endoplasmic reticulum exit site  endoplasmic reticulum exit site  cargo loading into COPII-coated vesicle  cargo loading into COPII-coated vesicle  COPII-coated vesicle budding  
Ontology : EGO-EBIGolgi membrane  antigen processing and presentation of peptide antigen via MHC class I  structural molecule activity  protein binding  cytoplasm  endoplasmic reticulum  endoplasmic reticulum membrane  cytosol  cytosol  intracellular protein transport  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  endoplasmic reticulum organization  ER to Golgi transport vesicle membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  vesicle coat  COPII vesicle coat  COPII vesicle coat  COPII vesicle coat  COPII-coated ER to Golgi transport vesicle  IRE1-mediated unfolded protein response  intracellular membrane-bounded organelle  COPII vesicle coating  calcium-dependent protein binding  perinuclear region of cytoplasm  response to calcium ion  endoplasmic reticulum exit site  endoplasmic reticulum exit site  endoplasmic reticulum exit site  cargo loading into COPII-coated vesicle  cargo loading into COPII-coated vesicle  COPII-coated vesicle budding  
Pathways : KEGGProtein processing in endoplasmic reticulum   
NDEx NetworkSEC31A
Atlas of Cancer Signalling NetworkSEC31A
Wikipedia pathwaysSEC31A
Orthology - Evolution
OrthoDB22872
GeneTree (enSembl)ENSG00000138674
Phylogenetic Trees/Animal Genes : TreeFamSEC31A
HOGENOMO94979
Homologs : HomoloGeneSEC31A
Homology/Alignments : Family Browser (UCSC)SEC31A
Gene fusions - Rearrangements
Fusion : MitelmanSEC31A/ALK [4q21.22/2p23.2]  
Fusion : MitelmanSEC31A/C6orf62 [4q21.22/6p22.3]  
Fusion : MitelmanSEC31A/JAK2 [4q21.22/9p24.1]  
Fusion : MitelmanSEC31A/MUC7 [4q21.22/4q13.3]  
Fusion PortalSEC31A 4q21.22 MUC7 4q13.3 BRCA
Fusion : QuiverSEC31A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSEC31A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SEC31A
dbVarSEC31A
ClinVarSEC31A
MonarchSEC31A
1000_GenomesSEC31A 
Exome Variant ServerSEC31A
GNOMAD BrowserENSG00000138674
Varsome BrowserSEC31A
Genetic variants : HAPMAP22872
Genomic Variants (DGV)SEC31A [DGVbeta]
DECIPHERSEC31A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSEC31A 
Mutations
ICGC Data PortalSEC31A 
TCGA Data PortalSEC31A 
Broad Tumor PortalSEC31A
OASIS PortalSEC31A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSEC31A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSEC31A
Mutations and Diseases : HGMDSEC31A
intOGen PortalSEC31A
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 SEC31A
DgiDB (Drug Gene Interaction Database)SEC31A
DoCM (Curated mutations)SEC31A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SEC31A (select a term)
intoGenSEC31A
Cancer3DSEC31A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610257    618651   
Orphanet
DisGeNETSEC31A
MedgenSEC31A
Genetic Testing Registry SEC31A
NextProtO94979 [Medical]
TSGene22872
GENETestsSEC31A
Target ValidationSEC31A
Huge Navigator SEC31A [HugePedia]
snp3D : Map Gene to Disease22872
BioCentury BCIQSEC31A
ClinGenSEC31A
Clinical trials, drugs, therapy
Protein Interactions : CTD22872
Pharm GKB GenePA162402737
Clinical trialSEC31A
Miscellaneous
canSAR (ICR)SEC31A (select the gene name)
HarmonizomeSEC31A
DataMed IndexSEC31A
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSEC31A
EVEXSEC31A
GoPubMedSEC31A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 14 14:31:44 CEST 2020
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