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    FANCC Fanconi anemia complementation group C [ Homo sapiens (human) ]

    Gene ID: 2176, updated on 17-Feb-2018
    Official Symbol
    FANCCprovided by HGNC
    Official Full Name
    Fanconi anemia complementation group Cprovided by HGNC
    Primary source
    HGNC:HGNC:3584
    See related
    Ensembl:ENSG00000158169 MIM:613899; Vega:OTTHUMG00000020279
    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
    FA3; FAC; FACC
    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 C. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 3.8), liver (RPKM 2.1) and 24 other tissues See more
    Orthologs
    Location:
    9q22.32
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (95099054..95317730, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (97861336..98079991, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene chromosome 9 open reading frame 3 Neighboring gene uncharacterized LOC107987102 Neighboring gene microRNA 3074 Neighboring gene microRNA 24-1 Neighboring gene microRNA 27b Neighboring gene ribosomal protein S26 pseudogene 37 Neighboring gene RNA, 5S ribosomal pseudogene 288 Neighboring gene ATM interactor pseudogene Neighboring gene uncharacterized LOC105376155 Neighboring gene uncharacterized LOC105376156 Neighboring gene metallothionein 1 pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • BARD1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      BARD1 signaling events, organism-specific biosystem
      BARD1 signaling events
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • FA core complex, organism-specific biosystem (from KEGG)
      FA core complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
    • FA core complex, conserved biosystem (from KEGG)
      FA core complex, conserved biosystemStructural complex; Genetic information processing; Repair system
    • Fanconi Anemia Pathway, organism-specific biosystem (from REACTOME)
      Fanconi Anemia Pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ14675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    brain morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    germ cell development IEA
    Inferred from Electronic Annotation
    more info
     
    interstrand cross-link repair TAS
    Traceable Author Statement
    more info
     
    myeloid cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal stem cell population maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    removal of superoxide radicals IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Fanconi anaemia nuclear complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    Fanconi anemia group C protein

    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_011707.1 RefSeqGene

      Range
      5001..223656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_497

    mRNA and Protein(s)

    1. NM_000136.2NP_000127.2  Fanconi anemia group C protein isoform a

      See identical proteins and their annotated locations for NP_000127.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AU132608, BC015748, CB052780
      Consensus CDS
      CCDS35071.1
      UniProtKB/Swiss-Prot
      Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Related
      ENSP00000289081.3, OTTHUMP00000021706, ENST00000289081.7, OTTHUMT00000053219
      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein
    2. NM_001243743.1NP_001230672.1  Fanconi anemia group C protein isoform a

      See identical proteins and their annotated locations for NP_001230672.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL354893, BC015748, DB445119, X66894
      Consensus CDS
      CCDS35071.1
      UniProtKB/Swiss-Prot
      Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Related
      ENSP00000364454.1, OTTHUMP00000021707, ENST00000375305.5, OTTHUMT00000053220
      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein
    3. NM_001243744.1NP_001230673.1  Fanconi anemia group C protein isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AI280997, AK222871, AK304887, AL354893
      Consensus CDS
      CCDS75861.1
      UniProtKB/TrEMBL
      A0A087WW44, B4E3W2
      Related
      ENSP00000479931.1, ENST00000490972.6
      Conserved Domains (1) summary
      pfam02106
      Location:10481
      Fanconi_C; Fanconi anaemia group C protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      95099054..95317730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014454.1XP_016869943.1  Fanconi anemia group C protein isoform X6

    2. XM_006717001.2XP_006717064.1  Fanconi anemia group C protein isoform X2

      Conserved Domains (1) summary
      pfam02106
      Location:10500
      Fanconi_C; Fanconi anaemia group C protein
    3. XM_017014452.1XP_016869941.1  Fanconi anemia group C protein isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:1403
      Fanconi_C; Fanconi anaemia group C protein
    4. XM_017014453.1XP_016869942.1  Fanconi anemia group C protein isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:1403
      Fanconi_C; Fanconi anaemia group C protein
    5. XM_011518367.2XP_011516669.1  Fanconi anemia group C protein isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:1403
      Fanconi_C; Fanconi anaemia group C protein
    6. XM_011518365.2XP_011516667.1  Fanconi anemia group C protein isoform X1

      See identical proteins and their annotated locations for XP_011516667.1

      UniProtKB/Swiss-Prot
      Q00597
      UniProtKB/TrEMBL
      A0A024R9N2
      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein
    7. XM_005251802.3XP_005251859.1  Fanconi anemia group C protein isoform X8

      Conserved Domains (1) summary
      pfam02106
      Location:1328
      Fanconi_C; Fanconi anaemia group C protein
    8. XM_006717002.3XP_006717065.1  Fanconi anemia group C protein isoform X3

      Conserved Domains (1) summary
      pfam02106
      Location:10444
      Fanconi_C; Fanconi anaemia group C protein
    9. XM_011518366.2XP_011516668.1  Fanconi anemia group C protein isoform X4

      Conserved Domains (1) summary
      pfam02106
      Location:10444
      Fanconi_C; Fanconi anaemia group C protein
    10. XM_006717004.3XP_006717067.1  Fanconi anemia group C protein isoform X7

      Conserved Domains (1) summary
      pfam02106
      Location:10335
      Fanconi_C; Fanconi anaemia group C protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      98007791..98226463 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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