ENSG00000169696


Homo sapiens

Features
Gene ID: ENSG00000169696
  
Biological name :ASPSCR1
  
Synonyms : ASPSCR1 / ASPSCR1, UBX domain containing tether for SLC2A4 / Q9BZE9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q25.3
Gene start: 81976807
Gene end: 82017406
  
Corresponding Affymetrix probe sets: 218908_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464044
Ensembl peptide - ENSP00000463992
Ensembl peptide - ENSP00000464408
Ensembl peptide - ENSP00000302176
Ensembl peptide - ENSP00000306625
Ensembl peptide - ENSP00000344020
Ensembl peptide - ENSP00000461980
Ensembl peptide - ENSP00000461984
Ensembl peptide - ENSP00000462218
Ensembl peptide - ENSP00000462329
Ensembl peptide - ENSP00000463316
Ensembl peptide - ENSP00000463708
NCBI entrez gene - 79058     See in Manteia.
OMIM - 606236
RefSeq - XM_017025044
RefSeq - NM_001330528
RefSeq - NM_024083
RefSeq - XM_011523601
RefSeq - XM_011523602
RefSeq - XM_017025036
RefSeq - XM_017025037
RefSeq - XM_017025038
RefSeq - XM_017025039
RefSeq - XM_017025040
RefSeq - XM_017025041
RefSeq - XM_017025042
RefSeq - XM_017025043
RefSeq - NM_001251888
RefSeq Peptide - NP_076988
RefSeq Peptide - NP_001238817
RefSeq Peptide - NP_001317457
swissprot - J3QL04
swissprot - J3QR12
swissprot - J3QR50
swissprot - J3KRF7
swissprot - Q9BZE9
swissprot - C9JAL9
swissprot - J3QRW3
swissprot - J3KRG1
swissprot - J3KRY8
Ensembl - ENSG00000169696
  
Related genetic diseases (OMIM): 606243 - Alveolar soft-part sarcoma, 606243
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
 aspscr1ENSDARG00000105321Danio rerio
 ASPSCR1ENSGALG00000039172Gallus gallus
 Q8VBT9ENSMUSG00000025142Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
UBXN6 / Q9BZV1 / UBX domain protein 6ENSG0000016767113


Protein motifs (from Interpro)
Interpro ID Name
 IPR001012  UBX domain
 IPR021569  TUG ubiquitin-like domain
 IPR029071  Ubiquitin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0031401 positive regulation of protein modification process IMP
 biological_processGO:0042593 glucose homeostasis IEA
 biological_processGO:0046324 regulation of glucose import IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0009898 cytoplasmic side of plasma membrane IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0012506 vesicle membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane IEA
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Translocation of SLC2A4 (GLUT4) to the plasma membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001428 Somatic mutation 
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 HP:0012218 Alveolar soft part sarcoma "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [HPO:probinson, pmid:11244503]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000181856 P14672 / SLC2A4 / solute carrier family 2 member 4  / complex






 

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