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Protein

Fanconi anemia group C protein

Gene

FANCC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processDNA damage, DNA repair

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000158169.11
HGNCiHGNC:3584 FANCC
MIMi613899 gene
neXtProtiNX_Q00597

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs1800365EnsemblClinVar.1
Natural variantiVAR_005232496L → R in FANCC. 1 PublicationCorresponds to variant dbSNP:rs121917785EnsemblClinVar.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 dbSNP:rs104886458EnsemblClinVar.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
GeneReviewsiFANCC
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

EPDiQ00597
MaxQBiQ00597
PaxDbiQ00597
PeptideAtlasiQ00597
PRIDEiQ00597
ProteomicsDBi57860

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

Show more details

Protein-protein interaction databases

BioGridi108473, 53 interactors
CORUMiQ00597
DIPiDIP-32846N
IntActiQ00597, 32 interactors
MINTiQ00597
STRINGi9606.ENSP00000289081

Structurei

3D structure databases

ProteinModelPortaliQ00597
SMRiQ00597
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR000686 Fanconi
PANTHERiPTHR16798 PTHR16798, 1 hit
PfamiView protein in Pfam
PF02106 Fanconi_C, 1 hit
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 → F1 PublicationCorresponds to variant dbSNP:rs1800361EnsemblClinVar.1
Natural variantiVAR_01633980I → T1 PublicationCorresponds to variant dbSNP:rs4647419EnsemblClinVar.1
Natural variantiVAR_005226139G → E3 PublicationsCorresponds to variant dbSNP:rs1800362EnsemblClinVar.1
Natural variantiVAR_005227190L → F1 PublicationCorresponds to variant dbSNP:rs1800364Ensembl.1
Natural variantiVAR_005228195D → V in FANCC. 1 PublicationCorresponds to variant dbSNP:rs1800365EnsemblClinVar.1
Natural variantiVAR_005229312I → V1 PublicationCorresponds to variant dbSNP:rs1800366EnsemblClinVar.1
Natural variantiVAR_005230449V → M2 PublicationsCorresponds to variant dbSNP:rs1800367EnsemblClinVar.1
Natural variantiVAR_005231465Q → R1 PublicationCorresponds to variant dbSNP:rs1800368EnsemblClinVar.1
Natural variantiVAR_005232496L → R in FANCC. 1 PublicationCorresponds to variant dbSNP:rs121917785EnsemblClinVar.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 dbSNP:rs104886458EnsemblClinVar.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 Genomic DNA No translation available.
AL354893 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiFANCC_HUMAN
AccessioniPrimary (citable) accession number: Q00597
Secondary accession number(s): B1ALR8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 18, 2018
This is version 172 of the entry and version 1 of the sequence. See 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

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