Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 57697, updated on 8-Jul-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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
      cl17041
      Location:83617
      helicase_insert_domain; helicase_insert_domain
    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

    Support Center