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FANCC FA complementation group C [ Homo sapiens (human) ]

Gene ID: 2176, updated on 13-Mar-2020

Summary

Official Symbol
FANCCprovided by HGNC
Official Full Name
FA complementation group Cprovided by HGNC
Primary source
HGNC:HGNC:3584
See related
Ensembl:ENSG00000158169 MIM:613899
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

Genomic context

See FANCC in Genome Data Viewer
Location:
9q22.32
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 aminopeptidase O (putative) 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

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
protein-containing 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

General protein information

Preferred Names
Fanconi anemia group C protein
Names
Fanconi anemia complementation group C

NCBI Reference Sequences (RefSeq)

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_000136.3NP_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, ENST00000289081.8
    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, ENST00000375305.6
    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, ENST00000490972.7
    Conserved Domains (1) summary
    pfam02106
    Location:10481
    Fanconi_C; Fanconi anaemia group C protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 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_006717001.3XP_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_017014452.2XP_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_024447451.1XP_024303219.1  Fanconi anemia group C protein isoform X1

    Conserved Domains (1) summary
    pfam02106
    Location:10555
    Fanconi_C; Fanconi anaemia group C protein
  6. 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
  7. XM_011518365.3XP_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
  8. 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
  9. XM_006717002.4XP_006717065.1  Fanconi anemia group C protein isoform X3

    Conserved Domains (1) summary
    pfam02106
    Location:10444
    Fanconi_C; Fanconi anaemia group C protein
  10. XM_011518366.3XP_011516668.1  Fanconi anemia group C protein isoform X4

    Conserved Domains (1) summary
    pfam02106
    Location:10444
    Fanconi_C; Fanconi anaemia group C protein
  11. XM_006717004.4XP_006717067.1  Fanconi anemia group C protein isoform X7

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