Human Gene FANCM (ENST00000267430.10) from GENCODE V44
Description: Homo sapiens FA complementation group M (FANCM), transcript variant 1, mRNA. (from RefSeq NM_020937) RefSeq Summary (NM_020937): The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Gencode Transcript: ENST00000267430.10 Gencode Gene: ENSG00000187790.12 Transcript (Including UTRs) Position: hg38 chr14:45,135,930-45,200,890 Size: 64,961 Total Exon Count: 23 Strand: + Coding Region Position: hg38 chr14:45,136,032-45,200,008 Size: 63,977 Coding Exon Count: 23
ID:FANCM_HUMAN DESCRIPTION: RecName: Full=Fanconi anemia group M protein; Short=Protein FACM; EC=3.6.4.13; AltName: Full=ATP-dependent RNA helicase FANCM; AltName: Full=Fanconi anemia-associated polypeptide of 250 kDa; Short=FAAP250; AltName: Full=Protein Hef ortholog; FUNCTION: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: Belongs to the multisubunit FA complex composed of APITD1, FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM, FAAP24 and STRA13/CENPX. The complex is not found in FA patients. Interacts with APITD1/CENPS, FAAP24 and EME1. SUBCELLULAR LOCATION: Nucleus. PTM: Phosphorylated; hyperphosphorylated in response to genotoxic stress. DISEASE: Defects in FANCM are a cause of Fanconi anemia complementation group M (FANCM) [MIM:614087]. FANCM is 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. SIMILARITY: Belongs to the DEAD box helicase family. DEAH subfamily. SIMILARITY: Contains 1 helicase ATP-binding domain. SIMILARITY: Contains 1 helicase C-terminal domain. SEQUENCE CAUTION: Sequence=BAB13422.1; Type=Miscellaneous discrepancy; Note=Intron retention; WEB RESOURCE: Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCM";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8IYD8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC036056 - Homo sapiens Fanconi anemia, complementation group M, mRNA (cDNA clone IMAGE:5270515), complete cds. AK093422 - Homo sapiens cDNA FLJ36103 fis, clone TESTI2021297, weakly similar to PUTATIVE ATP-DEPENDENT RNA HELICASE YIR002C. AX748116 - Sequence 1641 from Patent EP1308459. DQ140356 - Homo sapiens Fanconi anemia complementation group M (FANCM) mRNA, complete cds. BC140776 - Homo sapiens Fanconi anemia, complementation group M, mRNA (cDNA clone MGC:176453 IMAGE:9021644), complete cds. BC144511 - Homo sapiens Fanconi anemia, complementation group M, mRNA (cDNA clone MGC:178055 IMAGE:9053038), complete cds. BC156490 - Synthetic construct Homo sapiens clone IMAGE:100063031, MGC:190669 Fanconi anemia, complementation group M (FANCM) mRNA, encodes complete protein. CU690276 - Synthetic construct Homo sapiens gateway clone IMAGE:100018401 5' read FANCM mRNA. JF432109 - Synthetic construct Homo sapiens clone IMAGE:100073248 Fanconi anemia, complementation group M (FANCM) gene, encodes complete protein. KJ902999 - Synthetic construct Homo sapiens clone ccsbBroadEn_12393 FANCM gene, encodes complete protein. AL833656 - Homo sapiens mRNA; cDNA DKFZp667P1220 (from clone DKFZp667P1220). AB046816 - Homo sapiens mRNA for KIAA1596 protein, partial cds. AK001672 - Homo sapiens cDNA FLJ10810 fis, clone NT2RP4000929, weakly similar to PUTATIVE ATP-DEPENDENT RNA HELICASE MJ1505. JD171419 - Sequence 152443 from Patent EP1572962. JD322185 - Sequence 303209 from Patent EP1572962. JD064368 - Sequence 45392 from Patent EP1572962. JD294840 - Sequence 275864 from Patent EP1572962. JD048562 - Sequence 29586 from Patent EP1572962. JD303894 - Sequence 284918 from Patent EP1572962. JD427693 - Sequence 408717 from Patent EP1572962. JD165808 - Sequence 146832 from Patent EP1572962. JD143899 - Sequence 124923 from Patent EP1572962. JD528080 - Sequence 509104 from Patent EP1572962. JD499858 - Sequence 480882 from Patent EP1572962. JD138882 - Sequence 119906 from Patent EP1572962. JD397535 - Sequence 378559 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q8IYD8 (Reactome details) participates in the following event(s):
R-HSA-6785607 FANCM binds FAAP24 R-HSA-6785087 FANCM:FAAP24 and APITD1:STRA13 bind ICL-DNA R-HSA-6786155 POLN binds ICL-DNA R-HSA-6785126 FA core complex assembles at DNA interstrand crosslinks (ICLs) R-HSA-6785342 FANCD2:FANCI complex and UBE2T bind ICL-DNA associated with the FA core complex R-HSA-6786171 FANCD2 deubiquitination by USP1:WDR48 R-HSA-6788385 The complex of ATR and ATRIP is recruited to ICL-DNA R-HSA-6785732 DNA nucleases bind monoubiquitinated ID2 complex R-HSA-6785361 Monoubiquitination of FANCD2:FANCI R-HSA-6788392 ATR phosphorylates RPA2, FANCI, FANCD2 and FANCM at ICL-DNA R-HSA-6783310 Fanconi Anemia Pathway R-HSA-73894 DNA Repair
US Server
