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AFM afamin [ Homo sapiens (human) ]

Gene ID: 173, updated on 13-Mar-2020

Summary

Official Symbol
AFMprovided by HGNC
Official Full Name
afaminprovided by HGNC
Primary source
HGNC:HGNC:316
See related
Ensembl:ENSG00000079557 MIM:104145
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
ALF; ALB2; ALBA
Summary
This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward liver (RPKM 187.4) See more
Orthologs

Genomic context

See AFM in Genome Data Viewer
Location:
4q13.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (73481745..73504001)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74347462..74369718)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene albumin Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene alpha fetoprotein Neighboring gene long intergenic non-protein coding RNA 2499 Neighboring gene uncharacterized LOC107986287

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of afamin (AFM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125338, MGC125339

Gene Ontology Provided by GOA

Function Evidence Code Pubs
fatty acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
vitamin E binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin E binding IDA
Inferred from Direct Assay
more info
PubMed 
vitamin E binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
protein transport within extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport within extracellular region IMP
Inferred from Mutant Phenotype
more info
PubMed 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin transport IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
extracellular space HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
afamin
Names
alpha-Alb
alpha-albumin

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.

mRNA and Protein(s)

  1. NM_001133.2NP_001124.1  afamin precursor

    See identical proteins and their annotated locations for NP_001124.1

    Status: REVIEWED

    Source sequence(s)
    U51243
    Consensus CDS
    CCDS3557.1
    UniProtKB/Swiss-Prot
    P43652
    Related
    ENSP00000226355.3, ENST00000226355.5
    Conserved Domains (1) summary
    pfam00273
    Location:414590
    Serum_albumin; Serum albumin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    73481745..73504001
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007842.2XP_016863331.1  afamin isoform X1

  2. XM_017007843.2XP_016863332.1  afamin isoform X2

  3. XM_017007844.2XP_016863333.1  afamin isoform X3

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