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FANCM
HPA
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  • SUMMARY

  • TISSUE

  • BRAIN

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  • SUBCELL

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  • STRUCT & INT

  • FANCM
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

FANCM
Synonyms FAAP250, KIAA1596
Gene descriptioni

Full gene name according to HGNC.

FA complementation group M
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 14
Cytoband q21.2
Chromosome location (bp) 45135930 - 45200890
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

19
Ensembl ENSG00000187790 (version 109)
Entrez gene 57697
HGNC HGNC:23168
UniProt Q8IYD8 (UniProt - Evidence at protein level)
neXtProt NX_Q8IYD8
GeneCards FANCM
Antibodypedia FANCM antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

DNA-dependent ATPase component of the Fanconi anemia (FA) core complex 1. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage 2, 3, 4, 5, 6. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates 7, 8. Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX 9. In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates 10. In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA 11.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

DNA-binding, Helicase, Hydrolase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

DNA damage, DNA repair
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

ATP-binding, Nucleotide-binding
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
FANCM-201
ENSP00000267430
ENST00000267430
Q8IYD8
[Direct mapping] Fanconi anemia group M protein
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000400 [four-way junction DNA binding]
GO:0000712 [resolution of meiotic recombination intermediates]
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003724 [RNA helicase activity]
GO:0004386 [helicase activity]
GO:0004518 [nuclease activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0009378 [four-way junction helicase activity]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0031297 [replication fork processing]
GO:0032508 [DNA duplex unwinding]
GO:0036297 [interstrand cross-link repair]
GO:0043138 [3'-5' DNA helicase activity]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0071821 [FANCM-MHF complex]
GO:0071932 [replication fork reversal]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:1902527 [positive regulation of protein monoubiquitination]
Show all
2048 aa
232.2 kDa
No 0
FANCM-202
ENSP00000442493
ENST00000542564
Q8IYD8
[Direct mapping] Fanconi anemia group M protein
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000400 [four-way junction DNA binding]
GO:0000712 [resolution of meiotic recombination intermediates]
GO:0000785 [chromatin]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003724 [RNA helicase activity]
GO:0004386 [helicase activity]
GO:0004518 [nuclease activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0009378 [four-way junction helicase activity]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0031297 [replication fork processing]
GO:0032508 [DNA duplex unwinding]
GO:0036297 [interstrand cross-link repair]
GO:0043138 [3'-5' DNA helicase activity]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0071821 [FANCM-MHF complex]
GO:0071932 [replication fork reversal]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:1902527 [positive regulation of protein monoubiquitination]
Show all
2022 aa
229.3 kDa
No 0
FANCM-204
ENSP00000512773
ENST00000554030
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
248 aa
27 kDa
No 0
FANCM-205
ENSP00000450632
ENST00000554809
H0YJ14
[Direct mapping] Fanconi anemia group M protein
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
1487 aa
169.1 kDa
No 0
FANCM-207
ENSP00000450797
ENST00000555484
H0YJ45
[Direct mapping] Fanconi anemia group M protein
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
573 aa
64.6 kDa
No 0
FANCM-208
ENSP00000450596
ENST00000556036
Q8IYD8
[Direct mapping] Fanconi anemia group M protein
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000400 [four-way junction DNA binding]
GO:0000712 [resolution of meiotic recombination intermediates]
GO:0000785 [chromatin]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003724 [RNA helicase activity]
GO:0004386 [helicase activity]
GO:0004518 [nuclease activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0006974 [cellular response to DNA damage stimulus]
GO:0009378 [four-way junction helicase activity]
GO:0016787 [hydrolase activity]
GO:0016887 [ATP hydrolysis activity]
GO:0031297 [replication fork processing]
GO:0032508 [DNA duplex unwinding]
GO:0036297 [interstrand cross-link repair]
GO:0043138 [3'-5' DNA helicase activity]
GO:0043240 [Fanconi anaemia nuclear complex]
GO:0045003 [double-strand break repair via synthesis-dependent strand annealing]
GO:0071821 [FANCM-MHF complex]
GO:0071932 [replication fork reversal]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:1902527 [positive regulation of protein monoubiquitination]
Show all
669 aa
75.6 kDa
No 0
FANCM-209
ENSP00000452033
ENST00000556250
H0YJS3
[Direct mapping] Fanconi anemia group M protein
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
Show all
1979 aa
224.4 kDa
No 0
FANCM-211
ENSP00000512774
ENST00000696641
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
Show all
1354 aa
153.5 kDa
No 0
FANCM-213
ENSP00000512776
ENST00000696643
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
Show all
541 aa
60.8 kDa
No 0
FANCM-219
ENSP00000512780
ENST00000696649
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
Show all
1996 aa
226 kDa
No 0
FANCM-225
ENSP00000512785
ENST00000696659
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
1129 aa
128.4 kDa
No 0
FANCM-226
ENSP00000512788
ENST00000696662
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
643 aa
72.7 kDa
No 0
FANCM-228
ENSP00000512790
ENST00000696664
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
1659 aa
189 kDa
No 0
FANCM-229
ENSP00000512791
ENST00000696665
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
509 aa
57.5 kDa
No 0
FANCM-231
ENSP00000512800
ENST00000696676
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
Show all
181 aa
19.9 kDa
No 0
FANCM-235
ENSP00000512803
ENST00000696680
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
Show all
483 aa
54 kDa
No 0
FANCM-237
ENSP00000512805
ENST00000696682
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0005524 [ATP binding]
GO:0006281 [DNA repair]
GO:0016787 [hydrolase activity]
GO:0043138 [3'-5' DNA helicase activity]
Show all
607 aa
68.1 kDa
No 0
FANCM-238
ENSP00000512806
ENST00000696683
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004518 [nuclease activity]
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
1591 aa
181.3 kDa
No 0
FANCM-239
ENSP00000512807
ENST00000696684
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Hematologic diseases
   Reproductive system diseases
   Reproductive system diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006281 [DNA repair]
GO:0043138 [3'-5' DNA helicase activity]
Show all
1402 aa
160 kDa
No 0

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