Q8NB91 (FANCB_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 77.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Fanconi anemia group B protein Short name=Protein FACB Alternative name(s): Fanconi anemia-associated polypeptide of 95 kDa Short name=FAAP95 | ||
| Gene names |
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| 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 | 859 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | DNA repair protein required for FANCD2 ubiquitination. Ref.4 |
| Subunit structure | Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Ref.4 Ref.5 |
| Subcellular location | |
| Involvement in disease | Fanconi anemia complementation group B (FANCB) [MIM:300514]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. |
| Sequence caution | The sequence AAH43596.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH55411.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. |
Ontologies
| Keywords | |
|---|---|
| Biological process | DNA damage DNA repair |
| Cellular component | Nucleus |
| Disease | Fanconi anemia |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | DNA repair Traceable author statement. Source: Reactome |
| Cellular_component | Fanconi anaemia nuclear complex Inferred from direct assay PubMed 20347428. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||
Molecule processing | |||||||
|---|---|---|---|---|---|---|---|
| Chain | 1 – 859 | 859 | Fanconi anemia group B protein | PRO_0000087181 | |||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "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: Brain. |
| [2] | 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]. |
| [3] | "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]. Tissue: Testis. |
| [4] | "X-linked inheritance of Fanconi anemia complementation group B." Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H. Nat. Genet. 36:1219-1224(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG AND FANCL, FUNCTION, DISEASE, SUBCELLULAR LOCATION. |
| [5] | "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M." Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W. Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF; FANCG; FANCL AND FANCM. |
| [6] | "Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome." Holden S.T., Cox J.J., Kesterton I., Thomas N.S., Carr C., Woods C.G. J. Med. Genet. 43:750-754(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN FANCB. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK091383 mRNA. Translation: BAC03650.1. CH471074 Genomic DNA. Translation: EAW98861.1. BC043596 mRNA. Translation: AAH43596.1. Sequence problems. BC055411 mRNA. Translation: AAH55411.1. Sequence problems. BC136558 mRNA. Translation: AAI36559.1. BC136560 mRNA. Translation: AAI36561.1. |
| IPI | IPI00645780. |
| RefSeq | NP_001018123.1. NM_001018113.1. NP_689846.1. NM_152633.2. |
| UniGene | Hs.554740. |
3D structure databases | |
| ProteinModelPortal | Q8NB91. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8NB91. 1 interaction. |
| MINT | MINT-4789170. |
| STRING | 9606.ENSP00000326819. |
PTM databases | |
| PhosphoSite | Q8NB91. |
Polymorphism databases | |
| DMDM | 74751163. |
Proteomic databases | |
| PaxDb | Q8NB91. |
| PRIDE | Q8NB91. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000324138; ENSP00000326819; ENSG00000181544. ENST00000398334; ENSP00000381378; ENSG00000181544. |
| GeneID | 2187. |
| KEGG | hsa:2187. |
| UCSC | uc004cwg.1. human. |
Organism-specific databases | |
| CTD | 2187. |
| GeneCards | GC0XM014861. |
| HGNC | HGNC:3583. FANCB. |
| HPA | HPA003124. |
| MIM | 227650. phenotype. 300514. phenotype. 300515. gene. |
| neXtProt | NX_Q8NB91. |
| Orphanet | 84. Fanconi anemia. 3412. VACTERL with hydrocephalus. |
| PharmGKB | PA27996. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG78290. |
| HOGENOM | HOG000049220. |
| HOVERGEN | HBG080307. |
| InParanoid | Q8NB91. |
| KO | K10889. |
| OMA | KQRTPFE. |
| OrthoDB | EOG42NHZZ. |
| PhylomeDB | Q8NB91. |
Enzyme and pathway databases | |
| Reactome | REACT_216. DNA Repair. |
Gene expression databases | |
| ArrayExpress | Q8NB91. |
| Bgee | Q8NB91. |
| CleanEx | HS_FANCB. |
| Genevestigator | Q8NB91. |
| GermOnline | ENSG00000181544. Homo sapiens. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 2187. |
| NextBio | 8837. |
| SOURCE | Search... |
Entry information
| Entry name | FANCB_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NB91 Secondary accession number(s): B2RMZ4, Q7Z2U2, Q86XG1 | ||||||||
| Entry history |
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| 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 X Human chromosome X: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with
