ALB albumin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Multi-Spectroscopic and Molecular Docking Analysis of the Biophysical Interaction between Food Polyphenols, Urolithins, and Human Serum Albumin.
Title: A Multi-Spectroscopic and Molecular Docking Analysis of the Biophysical Interaction between Food Polyphenols, Urolithins, and Human Serum Albumin.
Plasma Glycated Albumin in Early Pregnancy and Gestational Diabetes Mellitus: A Prospective and Longitudinal Study.
Title: Plasma Glycated Albumin in Early Pregnancy and Gestational Diabetes Mellitus: A Prospective and Longitudinal Study.
Albumin influences leucocyte FcRn expression in the early days of kidney transplantation.
Title: Albumin influences leucocyte FcRn expression in the early days of kidney transplantation.
Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children.
Title: Familial dysalbuminemic hyperthyroxinemia (FDH) due to Arg242 His variant in ALB gene in Turkish children.
Serum albumin mediates the associations between heavy metals and two novel systemic inflammation indexes among U.S. adults.
Title: Serum albumin mediates the associations between heavy metals and two novel systemic inflammation indexes among U.S. adults.
Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2.
Title: Highly oxidized albumin is cleared by liver sinusoidal endothelial cells via the receptors stabilin-1 and -2.
ALB, HP, OAF and RBP4 as novel protein biomarkers for identifying cured patients with pulmonary tuberculosis by DIA.
Title: ALB, HP, OAF and RBP4 as novel protein biomarkers for identifying cured patients with pulmonary tuberculosis by DIA.
Determination of binding characteristics as a measure for effective albumin using different methods.
Title: Determination of binding characteristics as a measure for effective albumin using different methods.
[The Role of Blood Urea Nitrogen and C-Reactive Protein and Their Ratios to Albumin in Predicting Mortality in Crimean-Congo Hemorrhagic Fever].
Title: [The Role of Blood Urea Nitrogen and C-Reactive Protein and Their Ratios to Albumin in Predicting Mortality in Crimean-Congo Hemorrhagic Fever].
Novel insights about albumin in cardiovascular diseases: Focus on heart failure.
Title: Novel insights about albumin in cardiovascular diseases: Focus on heart failure.

Submit: New GeneRIF Correction See all GeneRIFs (460)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D4S2818 (e-PCR)
- UniSTS:21848

GDB:178382 (e-PCR)
- UniSTS:154992

GDB:178383 (e-PCR)
- UniSTS:154993

PMC86453P1 (e-PCR)
- UniSTS:273528

PMC134004P1 (e-PCR)
- UniSTS:270714

RH11066 (e-PCR)
- UniSTS:22672

GDB:178648 (e-PCR)
- UniSTS:155037

G34388 (e-PCR)
- UniSTS:17323

G34389 (e-PCR)
- UniSTS:83376

PMC114008P1 (e-PCR)
- UniSTS:270261

PMC87818P1 (e-PCR)
- UniSTS:273598

PMC87818P2 (e-PCR)
- UniSTS:273599

SHGC-59619 (e-PCR)
- UniSTS:7108

GDB:340866 (e-PCR)
- UniSTS:156613

GDB:340869 (e-PCR)
- UniSTS:156614

GDB:340872 (e-PCR)
- UniSTS:156615

GDB:340875 (e-PCR)
- UniSTS:156616

GDB:340878 (e-PCR)
- UniSTS:156617

GDB:340881 (e-PCR)
- UniSTS:156618

GDB:340884 (e-PCR)
- UniSTS:156619

GDB:340887 (e-PCR)
- UniSTS:156620

GDB:340891 (e-PCR)
- UniSTS:156621

GDB:340894 (e-PCR)
- UniSTS:156622

GDB:340897 (e-PCR)
- UniSTS:156623

GDB:340900 (e-PCR)
- UniSTS:156624

GDB:340903 (e-PCR)
- UniSTS:156625

GDB:340906 (e-PCR)
- UniSTS:156626

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

Process	Evidence Code	Pubs
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mitochondrial depolarization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in blood microparticle	HDA more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: albumin

Names: serum albumin

NP_000468.1

EC 6.1.1.16

NCBI Reference Sequences (RefSeq)

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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.