FANCM FA complementation group M [Homo sapiens (human)] - Gene

Summary

Official Symbol: FANCMprovided by HGNC
Official Full Name: FA complementation group Mprovided by HGNC
Primary source: HGNC:HGNC:23168
See related: Ensembl:ENSG00000187790 MIM:609644; AllianceGenome:HGNC:23168
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: POF15; SPGF28; FAAP250; KIAA1596
Summary: 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]
Expression: Broad expression in testis (RPKM 3.3), lymph node (RPKM 1.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q21.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (45135930..45200890)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (39327942..39392898)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (45605133..45670093)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanism of structure-specific DNA binding by the FANCM branchpoint translocase.
Title: Mechanism of structure-specific DNA binding by the FANCM branchpoint translocase.
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Title: FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
Title: Prevalence of FANCM germline variants in BRCA1/2 negative breast and/or ovarian cancer patients from Pakistan.
A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.
Title: A Genome-Wide Association Study for Hypertensive Kidney Disease in Korean Men.
FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
Title: FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.
FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops.
Title: FANCM suppresses DNA replication stress at ALT telomeres by disrupting TERRA R-loops.
DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
Title: DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
Following introduction of genomic interstrand crosslinks and dependent on ATR and FANCD2 but not on the Fanconi anemia core proteins or FAAP24, FANCM binds the replisome complex.
Title: Remodeling of Interstrand Crosslink Proximal Replisomes Is Dependent on ATR, FANCM, and FANCD2.
The expression and activity of FANCM, a DNA translocase protein, is essential for the viability of Alternative Lengthening of Telomeres (ALT)-associated cancers.
Title: ALT control, delete: FANCM as an anti-cancer target in Alternative Lengthening of Telomeres.
FANCM is a tumor suppressor gene that encodes a conserved and structure-specific DNA translocase. [review]
Title: A tumor suppressive DNA translocase named FANCM.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Premature ovarian failure 15 MedGen: C4748170 OMIM: 618096 GeneReviews: Not available	Compare labs
Spermatogenic failure 28 MedGen: C4748117 OMIM: 618086 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of Fanconi anemia, complementation group M (FANCM) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35560 (e-PCR)
- UniSTS:37958

G35375 (e-PCR)
- UniSTS:80752

G36291 (e-PCR)
- UniSTS:51586

RH92154 (e-PCR)
- UniSTS:91594

G35743 (e-PCR)
- UniSTS:55284

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3'-5' DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables four-way junction helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via synthesis-dependent strand annealing	IBA Inferred from Biological aspect of Ancestor more info
involved_in interstrand cross-link repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in interstrand cross-link repair	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein monoubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replication fork processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in resolution of meiotic recombination intermediates	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of FANCM-MHF complex	IDA Inferred from Direct Assay more info	PubMed
part_of FANCM-MHF complex	IPI Inferred from Physical Interaction more info	PubMed
part_of Fanconi anaemia nuclear complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: Fanconi anemia group M protein

Names: ATP-dependent RNA helicase FANCM; Fanconi anemia complementation group M; fanconi anemia-associated polypeptide of 250 kDa; protein Hef ortholog

NP_001295062.1

EC 3.6.4.13

NP_001295063.1

EC 3.6.4.13

NP_065988.1

EC 3.6.4.13

XP_011535336.1

EC 3.6.4.13

XP_011535337.1

EC 3.6.4.13

XP_011535339.1

EC 3.6.4.13

XP_016877012.1

EC 3.6.4.13

XP_047287587.1

EC 3.6.4.13

XP_047287588.1

EC 3.6.4.13

XP_047287589.1

EC 3.6.4.13

XP_047287590.1

EC 3.6.4.13

XP_054232471.1

EC 3.6.4.13

XP_054232472.1

EC 3.6.4.13

XP_054232473.1

EC 3.6.4.13

XP_054232474.1

EC 3.6.4.13

XP_054232475.1

EC 3.6.4.13

XP_054232476.1

EC 3.6.4.13

XP_054232477.1

EC 3.6.4.13

XP_054232478.1

EC 3.6.4.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007417.1 RefSeqGene

Range

5001..69958

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_502

mRNA and Protein(s)

NM_001308133.2 → NP_001295062.1 Fanconi anemia group M protein isoform 2

See identical proteins and their annotated locations for NP_001295062.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AL121809, AL833656, BC036056, BC140776

Consensus CDS

CCDS76677.1

UniProtKB/TrEMBL

A0A8Q3WLE8

Related

ENSP00000442493.2, ENST00000542564.6

Conserved Domains (7) summary

COG1111
Location:83 → 591

MPH1; ERCC4-related helicase [Replication, recombination and repair]

cd00046
Location:106 → 222

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:413 → 563

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd12091
Location:272 → 387

FANCM_ID; Insert domain of FANCM and related proteins

pfam02732
Location:1815 → 1922

ERCC4; ERCC4 domain

pfam09444
Location:1482 → 1562

MRC1; MRC1-like domain

pfam16783
Location:649 → 763

FANCM-MHF_bd; FANCM to MHF binding domain
NM_001308134.2 → NP_001295063.1 Fanconi anemia group M protein isoform 3

See identical proteins and their annotated locations for NP_001295063.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks many 3' exons and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AL121809, BC036056

Consensus CDS

CCDS81802.1

UniProtKB/TrEMBL

A0A8Q3SIT9

Related

ENSP00000450596.1, ENST00000556036.6

Conserved Domains (1) summary

COG1111
Location:83 → 617

MPH1; ERCC4-related helicase [Replication, recombination and repair]
NM_020937.4 → NP_065988.1 Fanconi anemia group M protein isoform 1

See identical proteins and their annotated locations for NP_065988.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL121809, AL833656, BC036056, DQ140356

Consensus CDS

CCDS32070.1

UniProtKB/Swiss-Prot

B2RTQ9, Q3YFH9, Q8IYD8, Q8N9X6, Q9HCH6

UniProtKB/TrEMBL

A0A8Q3WLE8

Related

ENSP00000267430.5, ENST00000267430.10

Conserved Domains (7) summary

COG1111
Location:83 → 617

MPH1; ERCC4-related helicase [Replication, recombination and repair]

cd00046
Location:106 → 248

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:439 → 589

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd12091
Location:298 → 413

FANCM_ID; Insert domain of FANCM and related proteins

pfam02732
Location:1841 → 1948

ERCC4; ERCC4 domain

pfam09444
Location:1508 → 1588

MRC1; MRC1-like domain

pfam16783
Location:675 → 789

FANCM-MHF_bd; FANCM to MHF binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

45135930..45200890

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011537034.3 → XP_011535336.1 Fanconi anemia group M protein isoform X1

UniProtKB/TrEMBL

A0A8Q3WLE8

Conserved Domains (7) summary

COG1111
Location:83 → 617

MPH1; ERCC4-related helicase [Replication, recombination and repair]

cd00046
Location:106 → 248

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:439 → 589

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd12091
Location:298 → 413

FANCM_ID; Insert domain of FANCM and related proteins

pfam02732
Location:1846 → 1953

ERCC4; ERCC4 domain

pfam09444
Location:1513 → 1593

MRC1; MRC1-like domain

pfam16783
Location:675 → 789

FANCM-MHF_bd; FANCM to MHF binding domain
XM_017021523.2 → XP_016877012.1 Fanconi anemia group M protein isoform X3

UniProtKB/TrEMBL

A0A8Q3WLE8
XM_047431632.1 → XP_047287588.1 Fanconi anemia group M protein isoform X5
XM_011537035.4 → XP_011535337.1 Fanconi anemia group M protein isoform X2

UniProtKB/TrEMBL

A0A8Q3WLE8

Conserved Domains (7) summary

COG1111
Location:83 → 591

MPH1; ERCC4-related helicase [Replication, recombination and repair]

cd00046
Location:106 → 222

DEXDc; DEAD-like helicases superfamily. A diverse family of proteins involved in ATP-dependent RNA or DNA unwinding. This domain contains the ATP-binding region.

cd00079
Location:413 → 563

HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...

cd12091
Location:272 → 387

FANCM_ID; Insert domain of FANCM and related proteins

pfam02732
Location:1820 → 1927

ERCC4; ERCC4 domain

pfam09444
Location:1487 → 1567

MRC1; MRC1-like domain

pfam16783
Location:649 → 763

FANCM-MHF_bd; FANCM to MHF binding domain
XM_047431631.1 → XP_047287587.1 Fanconi anemia group M protein isoform X4
XM_047431633.1 → XP_047287589.1 Fanconi anemia group M protein isoform X6

UniProtKB/TrEMBL

A0A8Q3WLG3

Related

ENSP00000512778.1, ENST00000696647.1
XM_047431634.1 → XP_047287590.1 Fanconi anemia group M protein isoform X7

Related

ENSP00000512790.1, ENST00000696664.1
XM_011537037.4 → XP_011535339.1 Fanconi anemia group M protein isoform X8

UniProtKB/TrEMBL

H0YJ14

Related

ENSP00000450632.2, ENST00000554809.6

Conserved Domains (3) summary

pfam02732
Location:1184 → 1291

ERCC4; ERCC4 domain

pfam09444
Location:851 → 931

MRC1; MRC1-like domain

pfam16783
Location:13 → 127

FANCM-MHF_bd; FANCM to MHF binding domain