Reviewed, UniProtKB/Swiss-Prot Q00597 (FANCC_HUMAN)

Names and origin

Protein names

Recommended name:
    Fanconi anemia group C protein
      Short name=Protein FACC

Gene names

Name:	FANCC
Synonyms:	FAC, FACC

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	558 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.
Subunit structure	Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with ZBTB32. Ref.8
Subcellular location	Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic. Ref.6 Ref.7
Tissue specificity	Ubiquitous.
Involvement in disease	Defects in FANCC are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. Ref.1 Ref.9 Ref.10 Ref.11 Ref.12 Ref.14 Ref.15

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Fanconi anemia
Gene Ontology (GO)
Biological process	DNA repair Ref.1 Traceable author statement. Source: ProtInc protein complex assembly Traceable author statement. Source: ProtInc
Cellular component	cytosol Inferred from direct assay. Source: UniProtKB nucleus Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 558	558	Fanconi anemia group C protein		PRO_0000087184
Natural variations
	Natural variant	26	1	S → F: dbSNP rs1800361. Ref.14		VAR_005225
	Natural variant	80	1	I → T: dbSNP rs4647419. Ref.4		VAR_016339
	Natural variant	139	1	G → E: dbSNP rs1800362. Ref.14 Ref.4 Ref.13		VAR_005226
	Natural variant	190	1	L → F: dbSNP rs1800364. Ref.15		VAR_005227
	Natural variant	195	1	D → V in FA. dbSNP rs1800365. Ref.14		VAR_005228
	Natural variant	312	1	I → V: dbSNP rs1800366. Ref.15		VAR_005229
	Natural variant	449	1	V → M: dbSNP rs1800367. Ref.15 Ref.4		VAR_005230
	Natural variant	465	1	Q → R: dbSNP rs1800368. Ref.15		VAR_005231
	Natural variant	496	1	L → R in FA. Ref.15		VAR_005232
	Natural variant	554	1	L → P in FA; loss of activity. Ref.1 Ref.12 Ref.14		VAR_005233
Experimental info
	Sequence conflict	294	1	Missing in AAA53104. Ref.3
	Sequence conflict	438	1	Missing in CAA47348. Ref.1
	Sequence conflict	438	1	Missing in CAA47347. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q00597-1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: C9DDFFAC725D050C	FASTA	558	63,429
	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

References

	« Hide 'large scale' referencesShow '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: 1574115] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT FA PRO-554. Tissue: Lymphoid.
[2]	Erratum Strathdee C.A., Gavish H., Shannon W.R., Buchwald M. Nature 358:434-434(1992) [PubMed: 1641028] [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: 8490620] [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]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon.
[6]	"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: 7517562] [Abstract] Cited for: SUBCELLULAR LOCATION.
[7]	"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: 8058745] [Abstract] Cited for: SUBCELLULAR LOCATION.
[8]	"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: 10572087] [Abstract] Cited for: INTERACTION WITH ZBTB32.
[9]	"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: 12724401] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCE; FANCF; FANCG AND FANCL.
[10]	"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: 15502827] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCE; FANCF; FANCG AND FANCL.
[11]	"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: 16116422] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCE; FANCF; FANCG; FANCL AND FANCM.
[12]	"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: 8499901] [Abstract] Cited for: CHARACTERIZATION OF VARIANT FA PRO-554.
[13]	"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: 8348157] [Abstract] Cited for: VARIANT GLU-139.
[14]	"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: 8128956] [Abstract] Cited for: VARIANTS FA VAL-195 AND PRO-554, VARIANTS PHE-26 AND GLU-139.
[15]	"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. , Samochatova E., Mohan S.P., Vasudevan P., Birjandi F., Hajianpour A., Murer-Orlando M., Mathew C.G. Hum. Mutat. 8:140-148(1996) [PubMed: 8844212] [Abstract] Cited for: VARIANTS PHE-190; VAL-312; MET-449 AND ARG-465, VARIANT FA ARG-496.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Fanconi Anemia Mutation Database

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. BC015748 mRNA. Translation: AAH15748.1.
IPI	IPI00023608.
PIR	S21733.
RefSeq	NP_000127.2.
UniGene	Hs.494529
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q00597. 1 interaction.
PTM databases
PhosphoSite	Q00597.
Proteomic databases
PRIDE	Q00597.
Genome annotation databases
Ensembl	ENSG00000158169. Homo sapiens. [Contig view]
GeneID	2176.
KEGG	hsa:2176.
Organism-specific databases
GeneCards	GC09M096901.
H-InvDB	HIX0008196.
HGNC	HGNC:3584. FANCC.
HPA	CAB017793.
MIM	227645. gene+phenotype. 227650. phenotype.
Orphanet	84. Fanconi anemia.
PharmGKB	PA27997.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q00597.
HOVERGEN	Q00597.
OMA	Q00597. FESWFLF.
Enzyme and pathway databases
Pathway_Interaction_DB	bard1pathway. BARD1 signaling events.
Gene expression databases
ArrayExpress	Q00597.
Bgee	Q00597.
CleanEx	HS_FANCC.
GermOnline	ENSG00000158169. Homo sapiens.
Family and domain databases
InterPro	IPR000686. Fanconi. [Graphical view]
PANTHER	PTHR16798. Fanconi. 1 hit.
Pfam	PF02106. Fanconi_C. 1 hit. [Graphical view]
PIRSF	PIRSF018417. FACC_protein. 1 hit.
PRINTS	PR00494. FANCONICGENE.
ProtoNet	Search...
Other Resources
NextBio	8787.
SOURCE	Search...

Entry information

Entry name

FANCC_HUMAN

Accession

Primary (citable) accession number: Q00597

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	May 5, 2009
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)