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AFP alpha fetoprotein [ Homo sapiens (human) ]

Gene ID: 174, updated on 2-Sep-2018

Summary

Official Symbol
AFPprovided by HGNC
Official Full Name
alpha fetoproteinprovided by HGNC
Primary source
HGNC:HGNC:317
See related
Ensembl:ENSG00000081051 MIM:104150; Vega:OTTHUMG00000130011
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AFPD; FETA; HPAFP
Summary
This gene encodes alpha-fetoprotein, a major plasma protein produced by the yolk sac and the liver during fetal life. Alpha-fetoprotein expression in adults is often associated with hepatoma or teratoma. However, hereditary persistance of alpha-fetoprotein may also be found in individuals with no obvious pathology. The protein is thought to be the fetal counterpart of serum albumin, and the alpha-fetoprotein and albumin genes are present in tandem in the same transcriptional orientation on chromosome 4. Alpha-fetoprotein is found in monomeric as well as dimeric and trimeric forms, and binds copper, nickel, fatty acids and bilirubin. The level of alpha-fetoprotein in amniotic fluid is used to measure renal loss of protein to screen for spina bifida and anencephaly. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 1.8) and liver (RPKM 1.6) See more
Orthologs

Genomic context

See AFP in Genome Data Viewer
Location:
4q13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (73436219..73455785)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74301933..74321492)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 17 Neighboring gene uncharacterized LOC102724832 Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene albumin Neighboring gene long intergenic non-protein coding RNA 2499 Neighboring gene afamin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Alpha-fetoprotein deficiency
MedGen: C1863081 OMIM: 615969 GeneReviews: Not available
Compare labs
Alpha-fetoprotein, hereditary persistence of
MedGen: C1863080 OMIM: 615970 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Human alpha-fetoprotein specifically interacts with HIV-1 gp120/gp41 (Env) and inhibits infection of primary macrophages by macrophage-tropic HIV-1 strains PubMed
Envelope transmembrane glycoprotein gp41 env Human alpha-fetoprotein specifically interacts with HIV-1 gp120/gp41 (Env) and inhibits infection of primary macrophages by macrophage-tropic HIV-1 strains PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
ovulation from ovarian follicle IEA
Inferred from Electronic Annotation
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
progesterone metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
alpha-fetoprotein
Names
alpha-1-fetoprotein
alpha-fetoglobulin

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023028.1 RefSeqGene

    Range
    5004..24570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134.2NP_001125.1  alpha-fetoprotein isoform 1 precursor

    See identical proteins and their annotated locations for NP_001125.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI336986, V01514
    Consensus CDS
    CCDS3556.1
    UniProtKB/Swiss-Prot
    P02771
    Related
    ENSP00000379138.2, OTTHUMP00000160480, ENST00000395792.6, OTTHUMT00000252284
    Conserved Domains (1) summary
    smart00103
    Location:404594
    ALBUMIN; serum albumin
  2. NM_001354717.1NP_001341646.1  alpha-fetoprotein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC108157, AK297674
    Conserved Domains (2) summary
    smart00103
    Location:246436
    ALBUMIN; serum albumin
    cl00031
    Location:150
    ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    73436219..73455785
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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