ENSG00000163631


Homo sapiens

Features
Gene ID: ENSG00000163631
  
Biological name :ALB
  
Synonyms : ALB / albumin / P02768
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q13.3
Gene start: 73397114
Gene end: 73421412
  
Corresponding Affymetrix probe sets: 1565228_s_at (Human Genome U133 Plus 2.0 Array)   211298_s_at (Human Genome U133 Plus 2.0 Array)   214837_at (Human Genome U133 Plus 2.0 Array)   214842_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000392541
Ensembl peptide - ENSP00000401820
Ensembl peptide - ENSP00000483421
Ensembl peptide - ENSP00000480485
Ensembl peptide - ENSP00000426179
Ensembl peptide - ENSP00000423727
Ensembl peptide - ENSP00000422784
Ensembl peptide - ENSP00000421027
Ensembl peptide - ENSP00000295897
Ensembl peptide - ENSP00000384695
NCBI entrez gene - 213     See in Manteia.
OMIM - 103600
RefSeq - NM_000477
RefSeq Peptide - NP_000468
swissprot - C9JKR2
swissprot - B7WNR0
swissprot - A0A0C4DGB6
swissprot - A0A087WWT3
swissprot - H0YA55
swissprot - H7C013
swissprot - D6RHD5
swissprot - P02768
swissprot - D6RCE7
Ensembl - ENSG00000163631
  
Related genetic diseases (OMIM): 615999 - [Dysalbuminemic hyperthyroxinemia], 615999
  616000 - Analbuminemia, 616000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ALBENSGALG00000035219Gallus gallus
 AlbENSMUSG00000029368Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AFP / P02771 / alpha fetoproteinENSG0000008105139
AFM / afamin / P43652ENSG0000007955734
GC / P02774 / GC, vitamin D binding proteinENSG0000014532116


Protein motifs (from Interpro)
Interpro ID Name
 IPR000264  ALB/AFP/VDB
 IPR014760  Serum albumin, N-terminal
 IPR020857  Serum albumin, conserved site
 IPR020858  Serum albumin-like
 IPR021177  Serum albumin/Alpha-fetoprotein/Afamin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis HEP
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006898 receptor-mediated endocytosis TAS
 biological_processGO:0009267 cellular response to starvation IDA
 biological_processGO:0015721 bile acid and bile salt transport TAS
 biological_processGO:0019836 hemolysis by symbiont of host erythrocytes IDA
 biological_processGO:0034375 high-density lipoprotein particle remodeling TAS
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043069 negative regulation of programmed cell death NAS
 biological_processGO:0043252 sodium-independent organic anion transport TAS
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0051659 maintenance of mitochondrion location IDA
 biological_processGO:0098869 cellular oxidant detoxification IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0043209 myelin sheath IEA
 cellular_componentGO:0070062 extracellular exosome IDA
 cellular_componentGO:0072562 blood microparticle HDA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0005504 fatty acid binding NAS
 molecular_functionGO:0005507 copper ion binding NAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008144 drug binding NAS
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0015643 toxic substance binding IDA
 molecular_functionGO:0016209 antioxidant activity NAS
 molecular_functionGO:0019825 oxygen binding IDA
 molecular_functionGO:0030170 pyridoxal phosphate binding IDA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051087 chaperone binding IPI


Pathways (from Reactome)
Pathway description
Platelet degranulation
Recycling of bile acids and salts
Scavenging of heme from plasma
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)
Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
Transport of organic anions
Post-translational protein phosphorylation
HDL remodeling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0002615 Hypotension 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003077 Hyperlipidemia 
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 HP:0009125 Lipodystrophy "Degenerative changes of the fat tissue." [HPO:curators]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100652 Q14973 / SLC10A1 / solute carrier family 10 member 1  / reaction
 ENSG00000110169 HPX / P02790 / hemopexin  / reaction
 ENSG00000134538 Q9Y6L6 / SLCO1B1 / solute carrier organic anion transporter family member 1B1  / reaction
 ENSG00000111700 Q9NPD5 / SLCO1B3 / solute carrier organic anion transporter family member 1B3  / reaction
 ENSG00000084453 P46721 / SLCO1A2 / solute carrier organic anion transporter family member 1A2  / reaction
 ENSG00000170231 FABP6 / P51161 / fatty acid binding protein 6  / reaction






 

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