ENSG00000103591


Homo sapiens

Features
Gene ID: ENSG00000103591
  
Biological name :AAGAB
  
Synonyms : AAGAB / alpha and gamma adaptin binding protein / Q6PD74
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 15
Strand: -1
Band: q23
Gene start: 67201033
Gene end: 67255195
  
Corresponding Affymetrix probe sets: 202851_at (Human Genome U133 Plus 2.0 Array)   202852_s_at (Human Genome U133 Plus 2.0 Array)   243284_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000261880
Ensembl peptide - ENSP00000440735
Ensembl peptide - ENSP00000453059
Ensembl peptide - ENSP00000453263
NCBI entrez gene - 79719     See in Manteia.
OMIM - 614888
RefSeq - XM_011522020
RefSeq - NM_001271885
RefSeq - NM_001271886
RefSeq - NM_024666
RefSeq Peptide - NP_001258814
RefSeq Peptide - NP_001258815
RefSeq Peptide - NP_078942
swissprot - Q6PD74
swissprot - H0YL49
Ensembl - ENSG00000103591
  
Related genetic diseases (OMIM): 148600 - Keratoderma, palmoplantar, punctate type IA, 148600
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
 aagabENSDARG00000041170Danio rerio
 AAGABENSGALG00000007887Gallus gallus
 AagabENSMUSG00000037257Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019341  Alpha/gamma-adaptin-binding protein p34


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0015031 protein transport IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0016607 nuclear speck IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000951 Abnormality of the skin "An abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001425 Heterogeneous 
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0002894 Pancreatic cancer 
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 HP:0003002 Breast cancer 
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 HP:0003003 Colon cancer 
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 HP:0003584 Late onset 
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 HP:0005584 Renal cell carcinoma "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators]
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 HP:0006740 Transitional cell carcinoma of the bladder 
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 HP:0012189 Hodgkin s lymphoma "A typer of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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