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    ALB albumin [ Homo sapiens (human) ]

    Gene ID: 213, updated on 6-Aug-2019

    Summary

    Official Symbol
    ALBprovided by HGNC
    Official Full Name
    albuminprovided by HGNC
    Primary source
    HGNC:HGNC:399
    See related
    Ensembl:ENSG00000163631 MIM:103600
    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; 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]
    Expression
    Restricted expression toward liver (RPKM 41385.4) See more
    Orthologs

    Genomic context

    See ALB in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (73404287..73421482)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (74269972..74287129)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 17 Neighboring gene high mobility group AT-hook 1 pseudogene 2 Neighboring gene uncharacterized LOC102724832 Neighboring gene albumin (ALB) 5' regulatory region Neighboring gene alpha fetoprotein (AFP) 5' regulatory region Neighboring gene alpha fetoprotein 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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    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 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 BioSystems

    • Bile acid and bile salt metabolism, organism-specific biosystem (from REACTOME)
      Bile acid and bile salt metabolism, organism-specific biosystemIn a healthy adult human, about 500 mg of cholesterol is converted to bile salts daily. Newly synthesized bile salts are secreted into the bile and released into the small intestine where they emulsi...
    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
    • Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR), organism-specific biosystem (from REACTOME)
      Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR), organism-specific biosystemThe bile acids glycocholate (GCCA) or taurocholate (TCCA) can be transported into the cytosol by SLCO1B1, which encodes the solute carrier organic anion transporter family member 1B1 (OAT1B1 aka OATP...
    • Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR), organism-specific biosystem (from REACTOME)
      Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR), organism-specific biosystemThe bile acids glycocholate (GCCA) or taurocholate (TCCA) can be transported into the cytosol by SLCO1B3, which encodes the solute carrier organic anion transporter family member 1B3 (OATP1B3 aka OAT...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Disorders of transmembrane transporters, organism-specific biosystem (from REACTOME)
      Disorders of transmembrane transporters, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP hydrolysis-coupled pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to ...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • Folate Metabolism, organism-specific biosystem (from WikiPathways)
      Folate Metabolism, organism-specific biosystem
      Folate Metabolism
    • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Recycling of bile acids and salts, organism-specific biosystem (from REACTOME)
      Recycling of bile acids and salts, organism-specific biosystemOf the 20-40 grams of bile salts released daily by the liver, all but approximately 0.5 grams are reabsorbed from the intestine, returned to the liver, and re-used. This recycling involves a series o...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • SLC transporter disorders, organism-specific biosystem (from REACTOME)
      SLC transporter disorders, organism-specific biosystemThe solute-carrier gene (SLC) superfamily encodes membrane-bound transporters comprising 55 gene families with at least 362 putatively functional protein-coding genes. The gene products include passi...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Scavenging of heme from plasma, organism-specific biosystem (from REACTOME)
      Scavenging of heme from plasma, organism-specific biosystemFree heme is damaging to tissues as it intercalates into biologic membranes, perturbing lipid bilayers and promoting the conversion of low-density lipoprotein to cytotoxic oxidized products. Moreover...
    • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
      Selenium Micronutrient Network, organism-specific biosystem
      Selenium Micronutrient Network
    • Thyroid hormone synthesis, organism-specific biosystem (from KEGG)
      Thyroid hormone synthesis, organism-specific biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Thyroid hormone synthesis, conserved biosystem (from KEGG)
      Thyroid hormone synthesis, conserved biosystemThyroid hormones triiodothyronine (T3) and thyroxine (T4) are essential for normal development, growth and metabolic homeostasis in all vertebrates, and synthesized in the thyroid gland. The function...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of organic anions, organism-specific biosystem (from REACTOME)
      Transport of organic anions, organism-specific biosystemOrganic anion transporting polypeptides (OATPs) are membrane transport proteins that mediate the sodium-independent transport of a wide range of amphipathic organic compounds including bile salts, st...
    • Transport of vitamins, nucleosides, and related molecules, organism-specific biosystem (from REACTOME)
      Transport of vitamins, nucleosides, and related molecules, organism-specific biosystemThis pathway groups the processes mediated by SLC transporters, by which vitamins and cofactors, as well as nucleosides, nucleotides, nucleobases, and related molecules cross lipid bilayer membranes.
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
      Vitamin B12 Metabolism, organism-specific biosystem
      Vitamin B12 Metabolism

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp779N1935

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antioxidant activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    copper ion binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enterobactin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    fatty acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    fatty acid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to oxygen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    pyridoxal phosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    toxic substance binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to starvation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle remodeling TAS
    Traceable Author Statement
    more info
     
    maintenance of mitochondrion location IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of programmed cell death NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of protein oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    retina homeostasis HEP PubMed 
    transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    blood microparticle HDA PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus HDA PubMed 
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_009291.1 RefSeqGene

      Range
      4985..22230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000477.7NP_000468.1  serum 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
      P02768
      Related
      ENSP00000295897.4, ENST00000295897.9
      Conserved Domains (1) summary
      smart00103
      Location:404594
      ALBUMIN; serum albumin

    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.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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