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

Gene ID: 2176, updated on 13-Sep-2014
Official Symbol
FANCCprovided by HGNC
Official Full Name
Fanconi anemia, complementation group Cprovided by HGNC
Primary source
HGNC:HGNC:3584
Locus tag
RP11-80I15.2
See related
Ensembl:ENSG00000158169; HPRD:01967; 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]
See FANCC in Epigenomics, MapViewer
Location:
9q22.3
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (95099054..95317709, 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 microRNA 3074 Neighboring gene microRNA 24-1 Neighboring gene microRNA 27b Neighboring gene ribosomal protein S26 pseudogene 37 Neighboring gene ATM interactor pseudogene Neighboring gene uncharacterized LOC100507346 Neighboring gene metallothionein 1 pseudogene 1 Neighboring gene patched 1

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. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • 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...
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
 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
myeloid cell homeostasis IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair IEA
Inferred from Electronic Annotation
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
 
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
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 

    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 proteins identical to 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/TrEMBL
    A0A024R9N2
    UniProtKB/Swiss-Prot
    Q00597
    Related
    ENSP00000289081, OTTHUMP00000021706, ENST00000289081, OTTHUMT00000053219
    Conserved Domains (1) summary
    pfam02106
    Location:1558
    Fanconi_C; Fanconi anaemia group C protein
  2. NM_001243743.1NP_001230672.1  Fanconi anemia group C protein isoform a

    See proteins identical to 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/TrEMBL
    A0A024R9N2
    UniProtKB/Swiss-Prot
    Q00597
    Related
    ENSP00000364454, OTTHUMP00000021707, ENST00000375305, OTTHUMT00000053220
    Conserved Domains (1) summary
    pfam02106
    Location:1558
    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
    B4E3W2
    Related
    ENSP00000479931, ENST00000490972
    Conserved Domains (1) summary
    pfam02106
    Location:1443
    Fanconi_C; Fanconi anaemia group C protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    95099054..95317709
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717001.1XP_006717064.1  

    Conserved Domains (1) summary
    pfam02106
    Location:1503
    Fanconi_C; Fanconi anaemia group C protein
  2. XM_005251802.2XP_005251859.1  

    Conserved Domains (1) summary
    pfam02106
    Location:1331
    Fanconi_C; Fanconi anaemia group C protein
  3. XM_006717002.1XP_006717065.1  

    Conserved Domains (1) summary
    pfam02106
    Location:1446
    Fanconi_C; Fanconi anaemia group C protein
  4. XM_006717004.1XP_006717067.1  

    Conserved Domains (1) summary
    pfam02106
    Location:1335
    Fanconi_C; Fanconi anaemia group C protein
  5. XM_006717003.1XP_006717066.1  

    Conserved Domains (1) summary
    pfam02106
    Location:1333
    Fanconi_C; Fanconi anaemia group C protein

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    67470857..67689280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

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