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    ALB albumin [ Homo sapiens (human) ]

    Gene ID: 213, updated on 27-Nov-2024

    Summary

    Official Symbol
    ALBprovided by HGNC
    Official Full Name
    albuminprovided by HGNC
    Primary source
    HGNC:HGNC:399
    See related
    Ensembl:ENSG00000163631 MIM:103600; AllianceGenome:HGNC:399
    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
    HSA; FDAHT; PRO0883; PRO0903; PRO1341
    Summary
    This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 prognosis.
    Expression
    Restricted expression toward liver (RPKM 41385.4) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ALB in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (73404287..73421482)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (76747989..76765185)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74270004..74287199)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 17 Neighboring gene uncharacterized LOC124900713 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74121667-74122167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15476 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:74124568-74125164 Neighboring gene small nucleolar RNA SNORA3/SNORA45 family Neighboring gene ANKRD17 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:74191462-74192661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74205305-74205804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:74204803-74205304 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:74209023-74209524 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:74235125-74235832 Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:74315627-74316826 Neighboring gene alpha fetoprotein Neighboring gene NANOG hESC enhancer GRCh37_chr4:74360223-74360724 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Analbuminemia
    MedGen: C0878666 OMIM: 616000 GeneReviews: Not available
    not available
    Hyperthyroxinemia, familial dysalbuminemic
    MedGen: C0342185 OMIM: 615999 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Activated granulocytes and macrophages producing hypochlorite/hypochlorous acid-altered isolated proteins antithrombin III and human serum albumin bind to gp120 and inhibit viral proliferation PubMed
    env Binding of 3-hydroxyphthalic anhydride-modified human serum albumin to HIV-1 gp120 or CD4 inhibits HIV-1 entry into target cells PubMed
    env Inhibition of HIV-1 binding to CD4 by suramin is reversed by human albumin, suggesting that only free suramin has antiviral properties PubMed
    env The negatively charged succinylated and aconitylated albumins bind to the V3 loop (amino acids 296-330) and the C-terminal part of HIV-1 gp120 and do not interact directly with the HIV chemokine receptors CXCR4 and CCR5 PubMed
    env The inhibition of HIV-1 gp120 binding to cells by succinylated human serum albumin is reversed by heparin PubMed
    Envelope transmembrane glycoprotein gp41 env N-terminal gp41 peptide binds as an alpha helix (residues 519-536) to fatty acid sites on human serum albumin (HSA) PubMed
    env The lysis of erythrocytes induced by the amino-terminal peptide (residues 519-541) of HIV-1 gp41 is blocked by anti-(518-541) IgG, dextran sulfate, and anionic albumins PubMed
    Tat tat HIV-1 Tat increases albumin permeability in isolated human glomeruli PubMed
    tat HIV-1 Tat induces a dose-dependent flux of albumin through endothelial cell monolayers, an effect involving Tat activation of the VEGF receptor type 2 and MAP kinase PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp779N1935

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables antioxidant activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables copper ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables enterobactin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enterobactin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables exogenous protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fatty acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fatty acid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to oxygen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyridoxal phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables toxic substance binding IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    albumin
    Names
    serum albumin
    NP_000468.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009291.1 RefSeqGene

      Range
      5033..22228
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000477.7NP_000468.1  albumin preproprotein

      See identical proteins and their annotated locations for NP_000468.1

      Status: REVIEWED

      Source sequence(s)
      AC108157, DA642320, DB186399, DQ986150, N53869
      Consensus CDS
      CCDS3555.1
      UniProtKB/Swiss-Prot
      E7ESS9, O95574, P02768, P04277, Q13140, Q645G4, Q68DN5, Q6UXK4, Q86YG0, Q8IUK7, Q9P157, Q9P1I7, Q9UHS3, Q9UJZ0
      UniProtKB/TrEMBL
      A8K9P0, B2RBS8
      Related
      ENSP00000295897.4, ENST00000295897.9
      Conserved Domains (1) summary
      smart00103
      Location:404594
      ALBUMIN; serum albumin

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      73404287..73421482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      76747989..76765185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)