AFM (afamin)

Gene

• Entrez ID: 173
• Gene name: Afamin
• Gene symbol: AFM
• Synonyms: ALB2, ALBA, ALF
• Chromosome: 4
• Chromosome location: 4q13.3
• Summary: This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005504	Function	Fatty acid binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	26902720
GO:0005576	Component	Extracellular region	TAS	7517938
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IDA	12463752, 15952736, 19046407, 26902720
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0006810	Process	Transport	IBA	21873635
GO:0008270	Function	Zinc ion binding	IBA	21873635
GO:0008431	Function	Vitamin E binding	IBA	21873635
GO:0008431	Function	Vitamin E binding	IDA	15952736
GO:0008431	Function	Vitamin E binding	IPI	12463752
GO:0050821	Process	Protein stabilization	IDA	26902720
GO:0051180	Process	Vitamin transport	IBA	21873635
GO:0051180	Process	Vitamin transport	IDA	12463752, 19046407
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071693	Process	Protein transport within extracellular region	IBA	21873635
GO:0071693	Process	Protein transport within extracellular region	IMP	26902720
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 104145
• HGNC: 316
• e!Ensembl: ENSG00000079557

Protein

• UniProt ID: P43652
• Protein name: Afamin (Alpha-albumin) (Alpha-Alb)
• Protein function: Functions as carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B (PubMed:26902720). Binds vitamin E (PubMed:15952736, PubMed:12463752). May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient (PubMed:15952736). May be involved in the transport of vitamin E across the blood-brain barrier (PubMed:19046407).
• PDB: 5OKL, 6FAK, 6RQ7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00273	Serum_albumin	30 → 202	Serum albumin family	Domain
  PF00273	Serum_albumin	222 → 394	Serum albumin family	Domain
  PF00273	Serum_albumin	414 → 590	Serum albumin family	Domain

• Sequence:

  MKLLKLTGFIFFLFFLTESLTLPTQPRDIENFNSTQKFIEDNIEYITIIAFAQYVQEATF
  EEMEKLVKDMVEYKDRCMADKTLPECSKLPNNVLQEKICAMEGLPQKHNFSHCCSKVDAQ
  RRLCFFYNKKSDVGFLPPFPTLDPEEKCQAYESNRESLLNHFLYEVARRNPFVFAPTLLT
  VAVHFEEVAKSCCEEQNKVNCLQTRAIPVTQYLKAFSSYQKHVCGALLKFGTKVVHFIYI
  AILSQKFPKIEFKELISLVEDVSSNYDGCCEGDVVQCIRDTSKVMNHICSKQDSISSKIK
  ECCEKKIPERGQCIINSNKDDRPKDLSLREGKFTDSENVCQERDADPDTFFAKFTFEYSR
  RHPDLSIPELLRIVQIYKDLLRNCCNTENPPGCYRYAEDKFNETTEKSLKMVQQECKHFQ
  NLGKDGLKYHYLIRLTKIAPQLSTEELVSLGEKMVTAFTTCCTLSEEFACVDNLADLVFG
  ELCGVNENRTINPAVDHCCKTNFAFRRPCFESLKADKTYVPPPFSQDLFTFHADMCQSQN
  EELQRKTDRFLVNLVKLKHELTDEELQSLFTNFANVVDKCCKAESPEVCFNEESPKIGN

• Sequence length: 599

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Prostate cancer	Malignant neoplasm of prostate, Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	23535732, 29892016

Unknown
Disease name	Disease term	dbSNP ID	References
Kidney failure	Kidney Failure, Acute		28885000
Acute kidney insufficiency	Acute Kidney Insufficiency		28885000