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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]
ALB (Albumin) is a Protein Coding gene. Diseases associated with ALB include Analbuminemia and Hyperthyroxinemia, Familial Dysalbuminemic. Among its related pathways are Lipoprotein metabolism and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include enzyme binding and chaperone binding. An important paralog of this gene is AFP.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IDA | 16405401 |
GO:0005504 | fatty acid binding | IBA,NAS | 9731778 |
GO:0005507 | copper ion binding | NAS | 14726550 |
GO:0005515 | protein binding | IPI | 16099937 |
GO:0008144 | drug binding | NAS | 10940303 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 19996109 |
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Response to elevated platelet cytosolic Ca2+ |
.44
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2 | Lipoprotein metabolism | ||
3 | Folate Metabolism | ||
4 | Synthesis of bile acids and bile salts | ||
5 | Binding and Uptake of Ligands by Scavenger Receptors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001895 | retina homeostasis | HEP | 23580065 |
GO:0002576 | platelet degranulation | TAS | -- |
GO:0006810 | transport | IBA | 21873635 |
GO:0006898 | receptor-mediated endocytosis | TAS | -- |
GO:0009267 | cellular response to starvation | IDA | 16245148 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ibuprofen | Approved | Pharma | Channel blocker, Inhibitor, Inhibition, Carrier, binder | 716 | ||
Pyridoxine | Approved, Investigational, Vet_approved | Nutra | Carrier, binder | 229,229 | ||
Estrone | Approved | Pharma | Agonist, Carrier | Estrogenic hormone | 22 | |
Estrone sulfate | Approved | Pharma | Carrier | 0 | ||
Liothyronine | Approved, Vet_approved | Pharma | Carrier | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
p-Cresyl sulfate | Protein-bound uremic retention solute | 3233-58-7 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 14b | ^ | 15 | ^ | 16a | · | 16b |
---|---|---|---|---|---|---|---|
SP1: | |||||||
SP2: | |||||||
SP3: | |||||||
SP4: | |||||||
SP5: | |||||||
SP6: | |||||||
SP7: | |||||||
SP8: | |||||||
SP9: | |||||||
SP10: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ALB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ALB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ALB 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Alb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Alb 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ALB 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ALB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ALB 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cars2 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636260 | Pathogenic: Analbuminemia | 73,415,073(+) | C/CT | FRAMESHIFT_VARIANT | |
783422 | Benign: Hyperthyroxinemia, familial dysalbuminemic; not provided | 73,412,135(+) | C/T | INTRON_VARIANT | |
904660 | Likely Benign: Hyperthyroxinemia, familial dysalbuminemic | 73,404,315(+) | C/T | FIVE_PRIME_UTR_VARIANT | |
904661 | Uncertain Significance: Hyperthyroxinemia, familial dysalbuminemic | 73,405,145(+) | G/A | MISSENSE_VARIANT | |
904662 | Uncertain Significance: Hyperthyroxinemia, familial dysalbuminemic | 73,406,722(+) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv956e199 | CNV | deletion | 23128226 |
esv3310394 | CNV | mobile element insertion | 20981092 |
esv3346976 | CNV | insertion | 20981092 |
Disorder | Aliases | PubMed IDs |
---|---|---|
analbuminemia |
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hyperthyroxinemia, familial dysalbuminemic |
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ehlers-danlos syndrome, arthrochalasia type, 1 |
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arthrochalasia ehlers-danlos syndrome |
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hyperthyroxinemia |
|