FANCC_MOUSE
ID FANCC_MOUSE Reviewed; 591 AA.
AC P50652; E9PXX6;
DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Fanconi anemia group C protein homolog;
DE Short=Protein FACC;
GN Name=Fancc; Synonyms=Fac, Facc;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC STRAIN=C57BL/6 X CBA; TISSUE=Liver;
RX PubMed=7689006; DOI=10.1093/hmg/2.6.655;
RA Wevrick R., Clarke C.A., Buchwald M.;
RT "Cloning and analysis of the murine Fanconi anemia group C cDNA.";
RL Hum. Mol. Genet. 2:655-662(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
CC -!- FUNCTION: DNA repair protein that may operate in a postreplication
CC repair or a cell cycle checkpoint function. May be implicated in
CC interstrand DNA cross-link repair and in the maintenance of normal
CC chromosome stability. Upon IFNG induction, may facilitate STAT1
CC activation by recruiting STAT1 to IFNGR1 (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA,
CC FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. This complex
CC may also include HSP70. Interacts with ZBTB32. Upon IFNG induction,
CC interacts with STAT1. Interacts with CDK1. Interacts with EIF2AK2 (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
CC Note=The major form is nuclear. The minor form is cytoplasmic.
CC -!- TISSUE SPECIFICITY: Ubiquitous.
CC -!- DEVELOPMENTAL STAGE: Embryos from days 8-13 show a uniform pattern of
CC expression with somewhat higher level expression in days 8 and 9 in the
CC head mesenchyme as compared to the rest of the embryo. Higher levels of
CC expression are seen in the developing bones of 14 to 16 day embryos. In
CC the 15 day embryo it is detected in the perichondrium and the marrow of
CC the iliac bone and perichondrium of the ribs and vertebrae. In the 16
CC day embryo it is detected in the perichondrial layer of the developing
CC digits of the forelimb, outer root sheath of the hair follicles of the
CC upper jaw and in the perichondrium of the vertebrae.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA37590.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAA37590.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
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DR EMBL; L08266; AAA37590.1; ALT_SEQ; mRNA.
DR EMBL; AC130827; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC154638; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS84029.1; -.
DR PIR; I49656; I49656.
DR RefSeq; NP_001334443.1; NM_001347514.1.
DR RefSeq; XP_006517153.1; XM_006517090.2.
DR RefSeq; XP_017170871.1; XM_017315382.1.
DR AlphaFoldDB; P50652; -.
DR SMR; P50652; -.
DR BioGRID; 199592; 7.
DR IntAct; P50652; 5.
DR MINT; P50652; -.
DR STRING; 10090.ENSMUSP00000072788; -.
DR iPTMnet; P50652; -.
DR PhosphoSitePlus; P50652; -.
DR PRIDE; P50652; -.
DR ProteomicsDB; 271552; -.
DR Antibodypedia; 4496; 442 antibodies from 35 providers.
DR Ensembl; ENSMUST00000163091; ENSMUSP00000124406; ENSMUSG00000021461.
DR GeneID; 14088; -.
DR KEGG; mmu:14088; -.
DR UCSC; uc007qxt.1; mouse.
DR CTD; 2176; -.
DR MGI; MGI:95480; Fancc.
DR VEuPathDB; HostDB:ENSMUSG00000021461; -.
DR eggNOG; ENOG502QSB8; Eukaryota.
DR GeneTree; ENSGT00390000016390; -.
DR HOGENOM; CLU_035819_0_0_1; -.
DR InParanoid; P50652; -.
DR OrthoDB; 1546359at2759; -.
DR Reactome; R-MMU-6783310; Fanconi Anemia Pathway.
DR BioGRID-ORCS; 14088; 34 hits in 109 CRISPR screens.
DR ChiTaRS; Fancc; mouse.
DR PRO; PR:P50652; -.
DR Proteomes; UP000000589; Chromosome 13.
DR RNAct; P50652; protein.
DR Bgee; ENSMUSG00000021461; Expressed in animal zygote and 228 other tissues.
DR ExpressionAtlas; P50652; baseline and differential.
DR Genevisible; P50652; MM.
DR GO; GO:0000785; C:chromatin; ISO:MGI.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0043240; C:Fanconi anaemia nuclear complex; ISS:UniProtKB.
DR GO; GO:0048854; P:brain morphogenesis; IGI:MGI.
DR GO; GO:0034599; P:cellular response to oxidative stress; IGI:MGI.
DR GO; GO:0007276; P:gamete generation; IMP:MGI.
DR GO; GO:0007281; P:germ cell development; IMP:MGI.
DR GO; GO:0036297; P:interstrand cross-link repair; IEA:InterPro.
DR GO; GO:0002262; P:myeloid cell homeostasis; IMP:MGI.
DR GO; GO:0097150; P:neuronal stem cell population maintenance; IGI:MGI.
DR GO; GO:0006289; P:nucleotide-excision repair; IMP:MGI.
DR GO; GO:0006513; P:protein monoubiquitination; ISO:MGI.
DR GO; GO:0019430; P:removal of superoxide radicals; IGI:MGI.
DR InterPro; IPR000686; FANCC.
DR PANTHER; PTHR16798; PTHR16798; 1.
DR Pfam; PF02106; Fanconi_C; 1.
DR PIRSF; PIRSF018417; FACC_protein; 1.
DR PRINTS; PR00494; FANCONICGENE.
PE 2: Evidence at transcript level;
KW Cytoplasm; DNA damage; DNA repair; Nucleus; Reference proteome.
FT CHAIN 1..591
FT /note="Fanconi anemia group C protein homolog"
FT /id="PRO_0000087185"
FT CONFLICT 235
FT /note="L -> V (in Ref. 1; AAA37590)"
FT /evidence="ECO:0000305"
FT CONFLICT 296
FT /note="D -> H (in Ref. 1; AAA37590)"
FT /evidence="ECO:0000305"
FT CONFLICT 305
FT /note="E -> K (in Ref. 1; AAA37590)"
FT /evidence="ECO:0000305"
FT CONFLICT 533
FT /note="R -> K (in Ref. 1; AAA37590)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 591 AA; 66979 MW; 97DA796F55D8A68A CRC64;
MAQESADLAS DCQSWLQKLS AWEQASSEET QKDTCLHLSG FQEFLRQMYE ILKEMDSDAI
LERFPTIGQL LAKACWNPLI LAYDESQKIV IWCLCCLMNK EPRTSAESGL NSWIRGLLSH
VLSAFRFDMK EVCLFTKSLG YESIDYYPSL LKNMVLSLVS ELRESHLNGL STQSRMAPER
MMSLSEVCVP LVTLPDMEPL VEALLTYHGH EPQEVLAPEF FEAVNEAFLS EKIVLPTSSV
VSLWFRHLPS LEKATLHLFE KLFSSKIICL RRMECCIRES FLPQAACQPA IFRIVDEMFR
FVLLETDGAP EVLAALQVFT SCLVEALKKE NKQLTFALRT YFPYGAPCLA AALSQHPEAI
PQGHRLQPLL HISQLLREAV EDCTRGSPRN PFESWFLFVH FGGWVDLAVA ELLLREEAEP
PAGLLWLLVF YYSPQDGSQQ REQSMVELKV LINRLLMLLR SGPLSATDLQ EAAESPSGDP
RPPVCGQLVR RLLLSLLLWT PEGHAIVWEA VTHGPTFEIT GPGCCPRIWR STRPQHRPRA
HLCCTEMAHT DAVIHEIIGF LDQTLYRSQH LCVEASRKLA RDLLKELQAQ V
