P43652 (AFAM_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 114.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Afamin Alternative name(s): Alpha-albumin Short name=Alpha-Alb | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 599 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Vitamin E binding protein. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the regulation and transport of vitamin E at the blood-brain barrier By similarity. Ref.8 Ref.9 Ref.13 |
| Subcellular location | |
| Tissue specificity | High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level). Ref.8 |
| Post-translational modification | N-glycosylated; more than 90% of the glycans are sialylated. Ref.8 |
| Sequence similarities | Belongs to the ALB/AFP/VDB family. Contains 3 albumin domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transport |
| Cellular component | Secreted |
| Coding sequence diversity | Polymorphism |
| Domain | Repeat Signal |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | vitamin transport Inferred from direct assay Ref.13. Source: UniProtKB |
| Cellular_component | extracellular space Inferred from direct assay Ref.8Ref.13. Source: UniProtKB |
| Molecular_function | vitamin E binding Inferred from direct assay Ref.8. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Ref.8 | ||||||||
| Chain | 22 – 599 | 578 | Afamin | PRO_0000001106 | |||||||
Regions | |||||||||||
| Domain | 22 – 210 | 189 | Albumin 1 | ||||||||
| Domain | 211 – 403 | 193 | Albumin 2 | ||||||||
| Domain | 404 – 599 | 196 | Albumin 3 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 33 | 1 | N-linked (GlcNAc...) Ref.11 Ref.12 Ref.14 | ||||||||
| Glycosylation | 109 | 1 | N-linked (GlcNAc...) (complex) Ref.15 | ||||||||
| Glycosylation | 383 | 1 | N-linked (GlcNAc...) (complex) Ref.15 | ||||||||
| Glycosylation | 402 | 1 | N-linked (GlcNAc...) (complex) Ref.10 Ref.11 Ref.14 Ref.15 | ||||||||
| Glycosylation | 488 | 1 | N-linked (GlcNAc...) Ref.11 | ||||||||
| Disulfide bond | 77 ↔ 86 | By similarity | |||||||||
| Disulfide bond | 99 ↔ 114 | By similarity | |||||||||
| Disulfide bond | 113 ↔ 124 | By similarity | |||||||||
| Disulfide bond | 148 ↔ 193 | By similarity | |||||||||
| Disulfide bond | 192 ↔ 201 | By similarity | |||||||||
| Disulfide bond | 224 ↔ 270 | By similarity | |||||||||
| Disulfide bond | 269 ↔ 277 | By similarity | |||||||||
| Disulfide bond | 289 ↔ 303 | By similarity | |||||||||
| Disulfide bond | 302 ↔ 313 | By similarity | |||||||||
| Disulfide bond | 340 ↔ 385 | By similarity | |||||||||
| Disulfide bond | 384 ↔ 393 | By similarity | |||||||||
| Disulfide bond | 416 ↔ 462 | By similarity | |||||||||
| Disulfide bond | 461 ↔ 470 | By similarity | |||||||||
| Disulfide bond | 483 ↔ 499 | By similarity | |||||||||
| Disulfide bond | 498 ↔ 509 | By similarity | |||||||||
| Disulfide bond | 536 ↔ 581 | By similarity | |||||||||
| Disulfide bond | 580 ↔ 589 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 395 | 1 | R → H. Corresponds to variant rs41265665 [ dbSNP | Ensembl ]. | VAR_061003 | |||||||
| Natural variant | 404 | 1 | T → S. Corresponds to variant rs2276444 [ dbSNP | Ensembl ]. | VAR_048218 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Afamin is a new member of the albumin, alpha-fetoprotein, and vitamin D-binding protein gene family." Lichenstein H.S., Lyons D.E., Wurfel M.M., Johnson D.A., McGinley M.D., Leidli J.C., Trollinger D.B., Mayer J.P., Wright S.D., Zukowski M.M. J. Biol. Chem. 269:18149-18154(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE. Tissue: Liver. |
| [2] | "Complete structure of the human alpha-albumin gene, a new member of the serum albumin multigene family." Nishio H., Dugaiczyk A. Proc. Natl. Acad. Sci. U.S.A. 93:7557-7561(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Heart. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. |
| [7] | "Identification of rat alpha-albumin and cDNA cloning of its human ortholog." Allard D., Gilbert S., Lamontagne A., Hamel D., Belanger L. Gene 153:287-288(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-69; 105-207 AND 560-599. Tissue: Liver. |
| [8] | "Afamin is a novel human vitamin E-binding glycoprotein characterization and in vitro expression." Jerkovic L., Voegele A.F., Chwatal S., Kronenberg F., Radcliffe C.M., Wormald M.R., Lobentanz E.M., Ezeh B., Eller P., Dejori N., Dieplinger B., Lottspeich F., Sattler W., Uhr M., Mechtler K., Dwek R.A., Rudd P.M., Baier G., Dieplinger H. J. Proteome Res. 4:889-899(2005) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 22-45, GLYCOSYLATION, TISSUE SPECIFICITY, FUNCTION. |
| [9] | "Characterization of the vitamin E-binding properties of human plasma afamin." Voegele A.F., Jerkovic L., Wellenzohn B., Eller P., Kronenberg F., Liedl K.R., Dieplinger H. Biochemistry 41:14532-14538(2002) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [10] | "Screening for N-glycosylated proteins by liquid chromatography mass spectrometry." Bunkenborg J., Pilch B.J., Podtelejnikov A.V., Wisniewski J.R. Proteomics 4:454-465(2004) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-402, MASS SPECTROMETRY. Tissue: Plasma. |
| [11] | "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-33; ASN-402 AND ASN-488, MASS SPECTROMETRY. Tissue: Plasma. |
| [12] | "Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry." Ramachandran P., Boontheung P., Xie Y., Sondej M., Wong D.T., Loo J.A. J. Proteome Res. 5:1493-1503(2006) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-33, MASS SPECTROMETRY. Tissue: Saliva. |
| [13] | "Afamin is synthesized by cerebrovascular endothelial cells and mediates alpha-tocopherol transport across an in vitro model of the blood-brain barrier." Kratzer I., Bernhart E., Wintersperger A., Hammer A., Waltl S., Malle E., Sperk G., Wietzorrek G., Dieplinger H., Sattler W. J. Neurochem. 108:707-718(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [14] | "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-33 AND ASN-402, MASS SPECTROMETRY. Tissue: Liver. |
| [15] | "Enrichment of glycopeptides for glycan structure and attachment site identification." Nilsson J., Rueetschi U., Halim A., Hesse C., Carlsohn E., Brinkmalm G., Larson G. Nat. Methods 6:809-811(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-109; ASN-383 AND ASN-402, STRUCTURE OF CARBOHYDRATES, MASS SPECTROMETRY. Tissue: Cerebrospinal fluid. |
| [16] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | L32140 mRNA. Translation: AAA21612.1. U51243 Genomic DNA. Translation: AAC50720.1. AK290556 mRNA. Translation: BAF83245.1. AC108157 Genomic DNA. No translation available. AC110752 Genomic DNA. Translation: AAY41051.1. CH471057 Genomic DNA. Translation: EAX05682.1. BC109020 mRNA. Translation: AAI09021.1. BC109021 mRNA. Translation: AAI09022.1. L35486 mRNA. Translation: AAA68197.1. L35497 mRNA. Translation: AAA68198.1. L35498 mRNA. Translation: AAA68199.1. |
| IPI | IPI00019943. |
| PIR | A54906. I39424. I39426. |
| RefSeq | NP_001124.1. NM_001133.2. |
| UniGene | Hs.168718. |
3D structure databases | |
| ProteinModelPortal | P43652. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000226355. |
PTM databases | |
| PhosphoSite | P43652. |
Polymorphism databases | |
| DMDM | 1168366. |
Proteomic databases | |
| PaxDb | P43652. |
| PeptideAtlas | P43652. |
| PRIDE | P43652. |
Protocols and materials databases | |
| DNASU | 173. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000226355; ENSP00000226355; ENSG00000079557. |
| GeneID | 173. |
| KEGG | hsa:173. |
| UCSC | uc003hhb.3. human. |
Organism-specific databases | |
| CTD | 173. |
| GeneCards | GC04P074336. |
| HGNC | HGNC:316. AFM. |
| HPA | HPA017006. |
| MIM | 104145. gene. |
| neXtProt | NX_P43652. |
| PharmGKB | PA24613. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG47806. |
| HOGENOM | HOG000293137. |
| HOVERGEN | HBG004207. |
| InParanoid | P43652. |
| OMA | FACVDNL. |
| OrthoDB | EOG46MBJ5. |
| PhylomeDB | P43652. |
Gene expression databases | |
| Bgee | P43652. |
| CleanEx | HS_AFM. |
| Genevestigator | P43652. |
| GermOnline | ENSG00000079557. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000264. ALB/AFP/VDB. IPR001703. Alpha-fetoprotein. IPR020858. Serum_albumin-like. IPR021177. Serum_albumin/AFP. IPR020857. Serum_albumin_CS. IPR014760. Serum_albumin_N. [Graphical view] |
| Pfam | PF00273. Serum_albumin. 3 hits. [Graphical view] |
| PIRSF | PIRSF002520. Serum_albumin_subgroup. 1 hit. |
| PRINTS | PR00803. AFETOPROTEIN. PR00802. SERUMALBUMIN. |
| SMART | SM00103. ALBUMIN. 3 hits. [Graphical view] |
| SUPFAM | SSF48552. Serum_albumin. 3 hits. |
| PROSITE | PS00212. ALBUMIN_1. 3 hits. PS51438. ALBUMIN_2. 3 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | AFM. human. |
| GenomeRNAi | 173. |
| NextBio | 694. |
| SOURCE | Search... |
Entry information
| Entry name | AFAM_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P43652 Secondary accession number(s): A8K3E1, Q32MR3, Q4W5C5 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
