ENSG00000081051


Homo sapiens

Features
Gene ID: ENSG00000081051
  
Biological name :AFP
  
Synonyms : AFP / alpha fetoprotein / P02771
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q13.3
Gene start: 73431138
Gene end: 73456174
  
Corresponding Affymetrix probe sets: 204694_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000226359
Ensembl peptide - ENSP00000379138
NCBI entrez gene - 174     See in Manteia.
OMIM - 104150
RefSeq - NM_001134
RefSeq Peptide - NP_001125
swissprot - P02771
swissprot - J3KMX3
Ensembl - ENSG00000081051
  
Related genetic diseases (OMIM): 615969 - Alpha-fetoprotein deficiency, 615969
  615970 - [Hereditary persistence of alpha-fetoprotein], 615970
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
 ENSGALG00000011658Gallus gallus
 AfpENSMUSG00000054932Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ALB / P02768 / albuminENSG0000016363139
AFM / afamin / P43652ENSG0000007955738
GC / P02774 / GC, vitamin D binding proteinENSG0000014532114


Protein motifs (from Interpro)
Interpro ID Name
 IPR000264  ALB/AFP/VDB
 IPR014760  Serum albumin, N-terminal
 IPR020857  Serum albumin, conserved site
 IPR020858  Serum albumin-like
 IPR021177  Serum albumin/Alpha-fetoprotein/Afamin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001542 ovulation from ovarian follicle IEA
 biological_processGO:0019953 sexual reproduction IEA
 biological_processGO:0042448 progesterone metabolic process IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0060395 SMAD protein signal transduction IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0045057 Decreased levels of alpha-fetoprotein 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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