InnateDB Protein
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IDBP-48219.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FANCA
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Protein Name
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Fanconi anemia, complementation group A
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Synonyms
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FA; FA-H; FA1; FAA; FACA; FAH; FANCH;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000373953
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InnateDB Gene
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IDBG-48213 (FANCA)
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Protein Structure
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Function |
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.
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Subcellular Localization |
Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
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Disease Associations |
Fanconi anemia (FA) [MIM:227650]: A genetically heterogeneous 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. {ECO:0000269PubMed:10094191, ECO:0000269PubMed:10210316, ECO:0000269PubMed:10521298, ECO:0000269PubMed:10807541, ECO:0000269PubMed:11091222, ECO:0000269PubMed:17924555, ECO:0000269PubMed:9371798, ECO:0000269PubMed:9399890, ECO:0000269PubMed:9929978}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 95 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
95
[view]
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Protein-Protein |
95
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O15360
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PhosphoSite |
PhosphoSite-O15360
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2175
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UniGene |
Hs.290154
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RefSeq |
NP_001018122
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HUGO |
HGNC:3582
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OMIM |
607139
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CCDS |
CCDS42221
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HPRD |
06186
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IMGT |
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EMBL |
AC005360
AC005565
AC005567
AC092385
AF054569
AJ225084
AJ225085
AK299282
AY598423
BC008979
BC141972
X99226
Z83067
Z83068
Z83069
Z83070
Z83071
Z83072
Z83073
Z83074
Z83075
Z83076
Z83077
Z83078
Z83079
Z83080
Z83081
Z83082
Z83083
Z83084
Z83085
Z83086
Z83087
Z83088
Z83089
Z83090
Z83091
Z83092
Z83093
Z83094
Z83095
Z83151
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GenPept |
AAC28331
AAC28751
AAC33304
AAC33401
AAH08979
AAI41973
AAS99350
BAG61299
CAA12393
CAA12394
CAA67610
CAB05445
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