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Protein

Fanconi anemia group C protein

Gene

FANCC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.1 Publication

GO - Biological processi

  • cellular response to oxidative stress Source: GO_Central
  • DNA repair Source: ProtInc
  • interstrand cross-link repair Source: Reactome
  • nucleotide-excision repair Source: GO_Central
  • protein complex assembly Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158169-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
SIGNORiQ00597.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group C protein
Short name:
Protein FACC
Gene namesi
Name:FANCC
Synonyms:FAC, FACC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:3584. FANCC.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: ProtInc
  • cytosol Source: UniProtKB
  • Fanconi anaemia nuclear complex Source: UniProtKB
  • nucleoplasm Source: Reactome
  • nucleus Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Fanconi anemia complementation group C (FANCC)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
See also OMIM:227645
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005228195D → V in FANCC. 1 PublicationCorresponds to variant rs1800365dbSNPEnsembl.1
Natural variantiVAR_005232496L → R in FANCC. 1 PublicationCorresponds to variant rs121917785dbSNPEnsembl.1
Natural variantiVAR_005233554L → P in FANCC; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death. 6 PublicationsCorresponds to variant rs104886458dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi64F → A: No loss of protection from cross-linking agent-induced toxicity. No effect on IFNG-induced STAT1-binding. 1 Publication1
Mutagenesisi66T → A: No effect on protective function from mitomycin C-genotoxicity. 1 Publication1
Mutagenesisi249S → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. 1 Publication1
Mutagenesisi251E → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. 1 Publication1
Mutagenesisi529T → A: No effect on protective function from mitomycin C-genotoxicity. 1 Publication1
Mutagenesisi531Y → A: No effect on protective function from mitomycin C-genotoxicity. No effect on IFNG-induced STAT1-binding. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNETi2176.
MalaCardsiFANCC.
MIMi227645. phenotype.
OpenTargetsiENSG00000158169.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27997.

Polymorphism and mutation databases

BioMutaiFANCC.
DMDMi1706762.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000871841 – 558Fanconi anemia group C proteinAdd BLAST558

Proteomic databases

MaxQBiQ00597.
PaxDbiQ00597.
PeptideAtlasiQ00597.
PRIDEiQ00597.

PTM databases

iPTMnetiQ00597.
PhosphoSitePlusiQ00597.

Expressioni

Tissue specificityi

Ubiquitous.

Developmental stagei

Expression increases during S phase, is maximal at the G2/M transition, and declines during M phase (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000158169.
CleanExiHS_FANCC.
ExpressionAtlasiQ00597. baseline and differential.
GenevisibleiQ00597. HS.

Organism-specific databases

HPAiCAB017793.
HPA030771.

Interactioni

Subunit structurei

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. This complex may also include HSP70. The complex is not found in FA patients. Interacts with ZBTB32. Upon IFNG induction, interacts with STAT1. Interacts with CDK1. Interacts with EIF2AK2; interaction between FA variants and EIF2AK2 may lead to augmented EIF2AK2 activation and cell death.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HSP90B1P146254EBI-81625,EBI-359129

Protein-protein interaction databases

BioGridi108473. 38 interactors.
DIPiDIP-32846N.
IntActiQ00597. 28 interactors.
MINTiMINT-110041.
STRINGi9606.ENSP00000289081.

Structurei

3D structure databases

ProteinModelPortaliQ00597.
SMRiQ00597.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410IK3Y. Eukaryota.
ENOG411225E. LUCA.
GeneTreeiENSGT00390000016390.
HOGENOMiHOG000043097.
HOVERGENiHBG051548.
InParanoidiQ00597.
KOiK10890.
OMAiESWFLFV.
OrthoDBiEOG091G0442.
PhylomeDBiQ00597.
TreeFamiTF330803.

Family and domain databases

InterProiIPR000686. Fanconi.
[Graphical view]
PANTHERiPTHR16798. PTHR16798. 1 hit.
PTHR16798:SF0. PTHR16798:SF0. 1 hit.
PfamiPF02106. Fanconi_C. 1 hit.
[Graphical view]
PIRSFiPIRSF018417. FACC_protein. 1 hit.
PRINTSiPR00494. FANCONICGENE.

Sequencei

Sequence statusi: Complete.

Q00597-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE
60 70 80 90 100
ALKEMDSNTV IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK
110 120 130 140 150
EPQNSGQSKL NSWIQGVLSH ILSALRFDKE VALFTQGLGY APIDYYPGLL
160 170 180 190 200
KNMVLSLASE LRENHLNGFN TQRRMAPERV ASLSRVCVPL ITLTDVDPLV
210 220 230 240 250
EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV CLWLRHLPSL
260 270 280 290 300
EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC
310 320 330 340 350
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM
360 370 380 390 400
VLLQDPQDIP RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF
410 420 430 440 450
GGWAEMVAEQ LLMSAAEPPT ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL
460 470 480 490 500
GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR APAQQLIRHL LLNFLLWAPG
510 520 530 540 550
GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES PRSEKLAREL

LKELRTQV
Length:558
Mass (Da):63,429
Last modified:October 1, 1996 - v1
Checksum:iC9DDFFAC725D050C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti294Missing in AAA53104 (PubMed:8490620).Curated1
Sequence conflicti438Missing in CAA47348 (PubMed:1574115).Curated1
Sequence conflicti438Missing in CAA47347 (PubMed:1574115).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00522526S → F.1 PublicationCorresponds to variant rs1800361dbSNPEnsembl.1
Natural variantiVAR_01633980I → T.1 PublicationCorresponds to variant rs4647419dbSNPEnsembl.1
Natural variantiVAR_005226139G → E.3 PublicationsCorresponds to variant rs1800362dbSNPEnsembl.1
Natural variantiVAR_005227190L → F.1 PublicationCorresponds to variant rs1800364dbSNPEnsembl.1
Natural variantiVAR_005228195D → V in FANCC. 1 PublicationCorresponds to variant rs1800365dbSNPEnsembl.1
Natural variantiVAR_005229312I → V.1 PublicationCorresponds to variant rs1800366dbSNPEnsembl.1
Natural variantiVAR_005230449V → M.2 PublicationsCorresponds to variant rs1800367dbSNPEnsembl.1
Natural variantiVAR_005231465Q → R.1 PublicationCorresponds to variant rs1800368dbSNPEnsembl.1
Natural variantiVAR_005232496L → R in FANCC. 1 PublicationCorresponds to variant rs121917785dbSNPEnsembl.1
Natural variantiVAR_005233554L → P in FANCC; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death. 6 PublicationsCorresponds to variant rs104886458dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X66894 mRNA. Translation: CAA47348.1.
X66893 mRNA. Translation: CAA47347.1.
L02664
, L02651, L02652, L02653, L02654, L02655, L02656, L02657, L02658, L02659, L02660, L02661, L02662, L02663 Genomic DNA. Translation: AAA53104.1.
AY220878 Genomic DNA. Translation: AAO26042.1.
AL157384, AL354893 Genomic DNA. Translation: CAH70886.1.
AL354893, AL157384 Genomic DNA. Translation: CAI41329.1.
CH471174 Genomic DNA. Translation: EAW92626.1.
BC015748 mRNA. Translation: AAH15748.1.
CCDSiCCDS35071.1.
PIRiS21733.
RefSeqiNP_000127.2. NM_000136.2.
NP_001230672.1. NM_001243743.1.
XP_011516667.1. XM_011518365.2.
UniGeneiHs.494529.

Genome annotation databases

EnsembliENST00000289081; ENSP00000289081; ENSG00000158169.
ENST00000375305; ENSP00000364454; ENSG00000158169.
GeneIDi2176.
KEGGihsa:2176.
UCSCiuc004avh.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X66894 mRNA. Translation: CAA47348.1.
X66893 mRNA. Translation: CAA47347.1.
L02664
, L02651, L02652, L02653, L02654, L02655, L02656, L02657, L02658, L02659, L02660, L02661, L02662, L02663 Genomic DNA. Translation: AAA53104.1.
AY220878 Genomic DNA. Translation: AAO26042.1.
AL157384, AL354893 Genomic DNA. Translation: CAH70886.1.
AL354893, AL157384 Genomic DNA. Translation: CAI41329.1.
CH471174 Genomic DNA. Translation: EAW92626.1.
BC015748 mRNA. Translation: AAH15748.1.
CCDSiCCDS35071.1.
PIRiS21733.
RefSeqiNP_000127.2. NM_000136.2.
NP_001230672.1. NM_001243743.1.
XP_011516667.1. XM_011518365.2.
UniGeneiHs.494529.

3D structure databases

ProteinModelPortaliQ00597.
SMRiQ00597.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108473. 38 interactors.
DIPiDIP-32846N.
IntActiQ00597. 28 interactors.
MINTiMINT-110041.
STRINGi9606.ENSP00000289081.

PTM databases

iPTMnetiQ00597.
PhosphoSitePlusiQ00597.

Polymorphism and mutation databases

BioMutaiFANCC.
DMDMi1706762.

Proteomic databases

MaxQBiQ00597.
PaxDbiQ00597.
PeptideAtlasiQ00597.
PRIDEiQ00597.

Protocols and materials databases

DNASUi2176.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000289081; ENSP00000289081; ENSG00000158169.
ENST00000375305; ENSP00000364454; ENSG00000158169.
GeneIDi2176.
KEGGihsa:2176.
UCSCiuc004avh.4. human.

Organism-specific databases

CTDi2176.
DisGeNETi2176.
GeneCardsiFANCC.
GeneReviewsiFANCC.
HGNCiHGNC:3584. FANCC.
HPAiCAB017793.
HPA030771.
MalaCardsiFANCC.
MIMi227645. phenotype.
613899. gene.
neXtProtiNX_Q00597.
OpenTargetsiENSG00000158169.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27997.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IK3Y. Eukaryota.
ENOG411225E. LUCA.
GeneTreeiENSGT00390000016390.
HOGENOMiHOG000043097.
HOVERGENiHBG051548.
InParanoidiQ00597.
KOiK10890.
OMAiESWFLFV.
OrthoDBiEOG091G0442.
PhylomeDBiQ00597.
TreeFamiTF330803.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000158169-MONOMER.
ReactomeiR-HSA-6783310. Fanconi Anemia Pathway.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
SIGNORiQ00597.

Miscellaneous databases

ChiTaRSiFANCC. human.
GeneWikiiFanconi_anemia,_complementation_group_C.
GenomeRNAii2176.
PROiQ00597.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000158169.
CleanExiHS_FANCC.
ExpressionAtlasiQ00597. baseline and differential.
GenevisibleiQ00597. HS.

Family and domain databases

InterProiIPR000686. Fanconi.
[Graphical view]
PANTHERiPTHR16798. PTHR16798. 1 hit.
PTHR16798:SF0. PTHR16798:SF0. 1 hit.
PfamiPF02106. Fanconi_C. 1 hit.
[Graphical view]
PIRSFiPIRSF018417. FACC_protein. 1 hit.
PRINTSiPR00494. FANCONICGENE.
ProtoNetiSearch...

Entry informationi

Entry nameiFANCC_HUMAN
AccessioniPrimary (citable) accession number: Q00597
Secondary accession number(s): B1ALR8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 2, 2016
This is version 156 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.