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Q00597 (FANCC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fanconi anemia group C protein

Short name=Protein FACC
Gene names
Name:FANCC
Synonyms:FAC, FACC
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length558 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.12

Subunit structure

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. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17

Subcellular location

Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic. Ref.8 Ref.9 Ref.10

Tissue specificity

Ubiquitous.

Developmental stage

Expression increases during S phase, is maximal at the G2/M transition, and declines during M phase (at protein level). Ref.10

Involvement in disease

Fanconi anemia complementation group C (FANCC) [MIM:227645]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 558558Fanconi anemia group C protein
PRO_0000087184

Natural variations

Natural variant261S → F. Ref.20
Corresponds to variant rs1800361 [ dbSNP | Ensembl ].
VAR_005225
Natural variant801I → T. Ref.4
Corresponds to variant rs4647419 [ dbSNP | Ensembl ].
VAR_016339
Natural variant1391G → E. Ref.4 Ref.19 Ref.20
Corresponds to variant rs1800362 [ dbSNP | Ensembl ].
VAR_005226
Natural variant1901L → F. Ref.21
Corresponds to variant rs1800364 [ dbSNP | Ensembl ].
VAR_005227
Natural variant1951D → V in FA. Ref.20
Corresponds to variant rs1800365 [ dbSNP | Ensembl ].
VAR_005228
Natural variant3121I → V. Ref.21
Corresponds to variant rs1800366 [ dbSNP | Ensembl ].
VAR_005229
Natural variant4491V → M. Ref.4 Ref.21
Corresponds to variant rs1800367 [ dbSNP | Ensembl ].
VAR_005230
Natural variant4651Q → R. Ref.21
Corresponds to variant rs1800368 [ dbSNP | Ensembl ].
VAR_005231
Natural variant4961L → R in FA. Ref.21
VAR_005232
Natural variant5541L → P in FA; loss of activity; loss of CDK1-binding and IFNG-induced STAT1-binding; abnormal EIF2AK2 activation and augmented cell death. Ref.1 Ref.10 Ref.12 Ref.14 Ref.18 Ref.20
VAR_005233

Experimental info

Mutagenesis641F → A: No loss of protection from cross-linking agent-induced toxicity. No effect on IFNG-induced STAT1-binding. Ref.12
Mutagenesis661T → A: No effect on protective function from mitomycin C-genotoxicity. Ref.12
Mutagenesis2491S → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. Ref.12
Mutagenesis2511E → A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding. Ref.12
Mutagenesis5291T → A: No effect on protective function from mitomycin C-genotoxicity. Ref.12
Mutagenesis5311Y → A: No effect on protective function from mitomycin C-genotoxicity. No effect on IFNG-induced STAT1-binding. Ref.12
Sequence conflict2941Missing in AAA53104. Ref.3
Sequence conflict4381Missing in CAA47348. Ref.1
Sequence conflict4381Missing in CAA47347. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q00597 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: C9DDFFAC725D050C

FASTA55863,429
        10         20         30         40         50         60 
MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV 

        70         80         90        100        110        120 
IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQGVLSH 

       130        140        150        160        170        180 
ILSALRFDKE VALFTQGLGY APIDYYPGLL KNMVLSLASE LRENHLNGFN TQRRMAPERV 

       190        200        210        220        230        240 
ASLSRVCVPL ITLTDVDPLV EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV 

       250        260        270        280        290        300 
CLWLRHLPSL EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC 

       310        320        330        340        350        360 
ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM VLLQDPQDIP 

       370        380        390        400        410        420 
RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF GGWAEMVAEQ LLMSAAEPPT 

       430        440        450        460        470        480 
ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR 

       490        500        510        520        530        540 
APAQQLIRHL LLNFLLWAPG GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES 

       550 
PRSEKLAREL LKELRTQV 

« Hide

References

« Hide 'large scale' references
[1]"Cloning of cDNAs for Fanconi's anaemia by functional complementation."
Strathdee C.A., Gavish H., Shannon W.R., Buchwald M.
Nature 356:763-767(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT FA PRO-554.
Tissue: Lymphoid tissue.
[2]Erratum
Strathdee C.A., Gavish H., Shannon W.R., Buchwald M.
Nature 358:434-434(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION TO 179-192.
[3]"Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR."
Gibson R.A., Buchwald M., Roberts R.G., Mathew C.G.
Hum. Mol. Genet. 2:35-38(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]NIEHS SNPs program
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-80; GLU-139 AND MET-449.
[5]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Colon.
[8]"The Fanconi anemia polypeptide FACC is localized to the cytoplasm."
Yamashita T., Barber D.L., Zhu Y., Wu N., D'Andrea A.D.
Proc. Natl. Acad. Sci. U.S.A. 91:6712-6716(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[9]"Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells."
Youssoufian H.
Proc. Natl. Acad. Sci. U.S.A. 91:7975-7979(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[10]"The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2."
Kupfer G.M., Yamashita T., Naf D., Suliman A., Asano S., D'Andrea A.D.
Blood 90:1047-1054(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CDK1, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, CHARACTERIZATION OF VARIANT FA PRO-554.
[11]"A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF."
Hoatlin M.E., Zhi Y., Ball H., Silvey K., Melnick A., Stone S., Arai S., Hawe N., Owen G., Zelent A., Licht J.D.
Blood 94:3737-3747(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ZBTB32.
[12]"The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality."
Pang Q., Christianson T.A., Keeble W., Diaz J., Faulkner G.R., Reifsteck C., Olson S., Bagby G.C.
Blood 98:1392-1401(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH STAT1, CHARACTERIZATION OF VARIANT FA PRO-554, MUTAGENESIS OF PHE-64; THR-66; SER-249; GLU-251; THR-529 AND TYR-531.
[13]"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCE; FANCF; FANCG AND FANCL.
[14]"The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR)."
Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.
J. Biol. Chem. 279:43910-43919(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCA; FANCG AND HSP70, CHARACTERIZATION OF VARIANT FA PRO-554.
[15]"X-linked inheritance of Fanconi anemia complementation group B."
Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H.
Nat. Genet. 36:1219-1224(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCE; FANCF; FANCG AND FANCL.
[16]"A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCE; FANCF; FANCG; FANCL AND FANCM.
[17]"Regulation of Rev1 by the Fanconi anemia core complex."
Kim H., Yang K., Dejsuphong D., D'Andrea A.D.
Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE FA COMPLEX.
[18]"A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein."
Gavish H., Dos Santos C.C., Buchwald M.
Hum. Mol. Genet. 2:123-126(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANT FA PRO-554.
[19]"A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews."
Whitney M.A., Saito H., Jakops P.M., Gibson R.A., Moses R.E., Grompe M.
Nat. Genet. 4:202-205(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT GLU-139.
[20]"Mutation analysis of the Fanconi anemia gene FACC."
Verlander P.C., Lin J.D., Udono M.U., Zhang Q., Gibson R.A., Mathew C.G., Auerbach A.D.
Am. J. Hum. Genet. 54:595-601(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FA VAL-195 AND PRO-554, VARIANTS PHE-26 AND GLU-139.
[21]"Novel mutations and polymorphisms in the Fanconi anemia group C gene."
Gibson R.A., Morgan N.V., Goldstein L.H., Pearson I.C., Kesterton I.P., Foot N.J., Jansen S., Havenga C., Pearson T., de Ravel T.J., Cohn R.J., Marques I.M., Dokal I., Roberts I., Marsh J., Ball S., Milner R.D., Llerena J.C. Jr. expand/collapse author list , Samochatova E., Mohan S.P., Vasudevan P., Birjandi F., Hajianpour A., Murer-Orlando M., Mathew C.G.
Hum. Mutat. 8:140-148(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PHE-190; VAL-312; MET-449 AND ARG-465, VARIANT FA ARG-496.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X66894 mRNA. Translation: CAA47348.1.
X66893 mRNA. Translation: CAA47347.1.
L02664 expand/collapse EMBL AC list , 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.
CCDSCCDS35071.1.
PIRS21733.
RefSeqNP_000127.2. NM_000136.2.
NP_001230672.1. NM_001243743.1.
UniGeneHs.494529.

3D structure databases

ProteinModelPortalQ00597.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108473. 37 interactions.
DIPDIP-32846N.
IntActQ00597. 5 interactions.
MINTMINT-110041.
STRING9606.ENSP00000289081.

PTM databases

PhosphoSiteQ00597.

Polymorphism databases

DMDM1706762.

Proteomic databases

MaxQBQ00597.
PaxDbQ00597.
PRIDEQ00597.

Protocols and materials databases

DNASU2176.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000289081; ENSP00000289081; ENSG00000158169.
ENST00000375305; ENSP00000364454; ENSG00000158169.
GeneID2176.
KEGGhsa:2176.
UCSCuc004avh.3. human.

Organism-specific databases

CTD2176.
GeneCardsGC09M097861.
GeneReviewsFANCC.
HGNCHGNC:3584. FANCC.
HPACAB017793.
MIM227645. phenotype.
613899. gene.
neXtProtNX_Q00597.
Orphanet84. Fanconi anemia.
PharmGKBPA27997.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44530.
HOGENOMHOG000043097.
HOVERGENHBG051548.
InParanoidQ00597.
KOK10890.
OMAVCLWLRH.
OrthoDBEOG7RNK0K.
PhylomeDBQ00597.
TreeFamTF330803.

Enzyme and pathway databases

ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressQ00597.
BgeeQ00597.
CleanExHS_FANCC.
GenevestigatorQ00597.

Family and domain databases

InterProIPR000686. Fanconi.
[Graphical view]
PANTHERPTHR16798. PTHR16798. 1 hit.
PfamPF02106. Fanconi_C. 1 hit.
[Graphical view]
PIRSFPIRSF018417. FACC_protein. 1 hit.
PRINTSPR00494. FANCONICGENE.
ProtoNetSearch...

Other

GeneWikiFanconi_anemia,_complementation_group_C.
GenomeRNAi2176.
NextBio8787.
PROQ00597.
SOURCESearch...

Entry information

Entry nameFANCC_HUMAN
AccessionPrimary (citable) accession number: Q00597
Secondary accession number(s): B1ALR8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 133 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM