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FLASH GENE
Symbol ALB contributors: mct - updated : 31-01-2017
HGNC name albumin
HGNC id 399
Corresponding disease
ANALBA analbuminemia
FDAH familial dysalbuminemic hyperthyroxinemia
HZD hyperzincemia familial dysalbuminemic
Location 4q13.3      Physical location : 74.269.971 - 74.287.127
Synonym name
  • serum albumin
  • cell growth inhibiting protein 42
  • growth-inhibiting protein 20
  • Synonym symbol(s) PRO0883, PRO1341, PRO0903, DKFZp779N1935, HSA
    EC.number 6.1.1.16
    DNA
    TYPE functioning gene
    STRUCTURE 17.16 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    motif repetitive sequence   ALU
    text structure repetitive elements (Alu, Kpn)
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC391669 4 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) FLJ38991 4q21.1 hypothetical protein FLJ38991 ANKRD17 4q13.3 ankyrin repeat domain 17 HMGA1L2 4q21.1 high mobility group AT-hook 1-like 2 ALB 4q11-q13 albumin AFP 4q11-q13 alpha-fetoprotein AFM 4q11-q13 afamin RASSF6 4q21.21 Ras association (RalGDS/AF-6) domain family 6 IL8 4q13-q21 interleukin 8 CXCL6 4q21 chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) PF4V1 4q13-q21 platelet factor 4 variant 1 CXCL1 4q21 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) CXCL1P 4q21.21 chemokine (C-X-C motif) ligand 1 pseudogene PF4 4q13-q21 platelet factor 4 (chemokine (C-X-C motif) ligand 4) PPBP 4q12-q13 pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) CXCL5 4q13-q21 chemokine (C-X-C motif) ligand 5 CXCL3 4q21 chemokine (C-X-C motif) ligand 3 SPBPBP 4q21.21 DNA-binding protein amplifying expression of surfactant protein B CXCL2 4q21 chemokine (C-X-C motif) ligand 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2264 - 609 - 2013 23602811
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Lymphoid/Immunespleen   highly
    Visualeyeanterior segmentcornea  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text liver
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • the N-terminal domain I (DI) is important for optimal FCGRT binding
  • three homologous domains that assemble to form a heart-shaped molecule
  • C-terminal domain III (DIII) of human serum albumin (HSA) contains the principal binding site for FCGRT
  • mono polymer monomer
    HOMOLOGY
    Homologene
    FAMILY
  • serum albumin family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus
    text
  • Albumin accumulation in early endosomes was independent of FCGRT-binding affinity, but differences in FCGRT-binding affinities significantly affected the ALB distribution between late endosomes and lysosomes
  • basic FUNCTION
  • putative downregulated c-Myc target gene
  • functioning primarily as a carrier protein for steroids, fatty acids, and thyroid hormones and playing a role in stabilizing extracellular fluid volume
  • represents a very abundant and important circulating antioxidant
  • HSA (human serum albumin) is the most abundant carrier protein in blood plasma and plays an important role in determining the absorption, distribution, metabolism and excretion of drugs
  • serum albumin possesses chaperone-like properties and that this activity is maintained under a number of physiologically relevant conditions
  • negative correlation between albumin and fat mass seems to exclude a significant contributing role of adipocyte in plasma albumin
  • normal albumin serves a role in preventing histone-induced platelet aggregation in a charge-dependent manner
  • is an abundant blood protein that acts as a transporter of a plethora of small molecules like fatty acids, hormones, toxins, and drugs
  • is the most abundant protein in plasma, which plays a central role in drug pharmacokinetics because most compounds bound to ALB in blood circulation
  • plays a key role as a transport protein
  • presence of serum albumin in human eye tissues suggests its involvement in the metabolism, maintenance of tissue volume, and antioxidant reactions
  • is the most abundant plasma protein involved in the transport of many compounds, such as fatty acids, bilirubin, and heme
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component as ALB has been known to preserve the motility of sperm, native ALB-PIP complex formation may point towards an important role of PIP, which can directly be correlated with male fertility/infertility
    INTERACTION
    DNA
    RNA
    small molecule
  • down-regulated by ATRA (all-trans retinoic acid)
  • protein
  • CELF1, a known RNA binding protein, binds to the ALB 3&
  • 8242;UTR
  • ALB is the most abundant protein in plasma and is glycated by glucose
  • extending serum half-life of ALB by engineering neonatal Fc receptor (FCGRT) binding
  • FCGRT protects albumin from intracellular degradation via a pH-dependent cellular recycling mechanism
  • serum albumin can act as carrier protein for phenylacetic acid
  • ALB-GHRL interaction reduces the spontaneous deacylation of the hormone
  • ghrelin binds to serum ALB and this interaction impacts on the biological activity of the hormone
  • cellular ALB internalization was proportional to FGRT expression and albumin-binding affinity
  • FCGRT-dependent endosomal cellular-sorting pathway has great importance in describing fundamental mechanisms of intracellular ALB recycling
  • cell & other
  • binding fatty acids, modulated among structural variant
  • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ANALBA , HZD , FDAH
    related resource Albumin mutation database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    reduced prealbumin is associated with bone mineral density in women with osteoporosis
    constitutional     --over  
    in overt hypothyroidism (OHT) and subclinical hypothyroidism (SHT) in comparison to euthyroid controls
    constitutional     --over  
    of IMA in newborns born to pre-eclamptic mothers as compared to those born to normal mothers
    constitutional     --over  
    elevated IMA level was associated with IUGR
    Susceptibility to coronary heart disease(CHD)
    Variant & Polymorphism other polymorphisms may be protective against the development of CHD
    Candidate gene
    Marker
  • ischemia-modified albumin (IMA) in inflammatory bowel disease (IBD) might be related with the pathogenesis of disease and correlated with the severity of the disease
  • ischemia-modified albumin (IMA) and AVP detection is clinically useful in the early diagnosis and prognosis of acute carbon monoxide poisoning (ACOP)-related myocardial injury and in guiding early clinical drug application
  • elevated levels of ischemia-modified albumin (IMA) can be a clinically useful marker of protein oxidative damage and oxidative stress (OS) in hypothyroidism
  • IMA may act as a marker of ischemia and oxidative stress in newborns delivered to pre-eclamptic mothers
  • may also be a valuable marker in perinatal hypoxia and IUGR detection
  • Therapy target
    ANIMAL & CELL MODELS