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

Gene ID: 57697, updated on 9-Oct-2021

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
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
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Genomic context

See FANCM in Genome Data Viewer
Location:
14q21.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (45135930..45200890)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (45605133..45670093)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 39 Neighboring gene small nucleolar RNA, C/D box 127 Neighboring gene FKBP prolyl isomerase 3 Neighboring gene MIS18 binding protein 1 Neighboring gene uncharacterized LOC107984674

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC176453

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3'-5' DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
enables four-way junction helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nuclease activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of FANCM-MHF complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of Fanconi anaemia nuclear complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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
NP_001295063.1
NP_065988.1
XP_011535336.1
XP_011535337.1
XP_011535339.1
XP_016877012.1
XP_016877013.1
XP_016877014.1
XP_016877015.1
XP_016877016.1

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

  1. NG_007417.1 RefSeqGene

    Range
    5001..69958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_502

mRNA and Protein(s)

  1. NM_001308133.2NP_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/Swiss-Prot
    Q8IYD8
    Related
    ENSP00000442493.2, ENST00000542564.6
    Conserved Domains (7) summary
    COG1111
    Location:83591
    MPH1; ERCC4-related helicase [Replication, recombination and repair]
    cd00046
    Location:106222
    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:413563
    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:272387
    FANCM_ID; Insert domain of FANCM and related proteins
    pfam02732
    Location:18151922
    ERCC4; ERCC4 domain
    pfam09444
    Location:14821562
    MRC1; MRC1-like domain
    pfam16783
    Location:649763
    FANCM-MHF_bd; FANCM to MHF binding domain
  2. NM_001308134.2NP_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/Swiss-Prot
    Q8IYD8
    Related
    ENSP00000450596.1, ENST00000556036.5
    Conserved Domains (1) summary
    COG1111
    Location:83617
    MPH1; ERCC4-related helicase [Replication, recombination and repair]
  3. NM_020937.4NP_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
    Q8IYD8
    Related
    ENSP00000267430.5, ENST00000267430.10
    Conserved Domains (7) summary
    COG1111
    Location:83617
    MPH1; ERCC4-related helicase [Replication, recombination and repair]
    cd00046
    Location:106248
    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:439589
    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:298413
    FANCM_ID; Insert domain of FANCM and related proteins
    pfam02732
    Location:18411948
    ERCC4; ERCC4 domain
    pfam09444
    Location:15081588
    MRC1; MRC1-like domain
    pfam16783
    Location:675789
    FANCM-MHF_bd; FANCM to MHF binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    45135930..45200890
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537034.2XP_011535336.1  Fanconi anemia group M protein isoform X1

    Conserved Domains (7) summary
    COG1111
    Location:83617
    MPH1; ERCC4-related helicase [Replication, recombination and repair]
    cd00046
    Location:106248
    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:439589
    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:298413
    FANCM_ID; Insert domain of FANCM and related proteins
    pfam02732
    Location:18461953
    ERCC4; ERCC4 domain
    pfam09444
    Location:15131593
    MRC1; MRC1-like domain
    pfam16783
    Location:675789
    FANCM-MHF_bd; FANCM to MHF binding domain
  2. XM_017021523.1XP_016877012.1  Fanconi anemia group M protein isoform X3

  3. XM_011537035.3XP_011535337.1  Fanconi anemia group M protein isoform X2

    Conserved Domains (7) summary
    COG1111
    Location:83591
    MPH1; ERCC4-related helicase [Replication, recombination and repair]
    cd00046
    Location:106222
    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:413563
    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:272387
    FANCM_ID; Insert domain of FANCM and related proteins
    pfam02732
    Location:18201927
    ERCC4; ERCC4 domain
    pfam09444
    Location:14871567
    MRC1; MRC1-like domain
    pfam16783
    Location:649763
    FANCM-MHF_bd; FANCM to MHF binding domain
  4. XM_017021525.2XP_016877014.1  Fanconi anemia group M protein isoform X5

  5. XM_017021527.1XP_016877016.1  Fanconi anemia group M protein isoform X6

  6. XM_017021524.2XP_016877013.1  Fanconi anemia group M protein isoform X4

  7. XM_017021526.2XP_016877015.1  Fanconi anemia group M protein isoform X5

    Related
    ENSP00000452033.1, ENST00000556250.5
  8. XM_011537037.3XP_011535339.1  Fanconi anemia group M protein isoform X7

    Conserved Domains (3) summary
    pfam02732
    Location:11841291
    ERCC4; ERCC4 domain
    pfam09444
    Location:851931
    MRC1; MRC1-like domain
    pfam16783
    Location:13127
    FANCM-MHF_bd; FANCM to MHF binding domain

RNA

  1. XR_001750470.1 RNA Sequence

  2. XR_001750471.2 RNA Sequence

  3. XR_001750472.1 RNA Sequence

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