ID FANCA_MOUSE Reviewed; 1439 AA. AC Q9JL70; E9QKQ4; Q9ESU9; Q9ESV3; Q9ET44; Q9JL64; Q9JL65; Q9JL66; Q9JL67; AC Q9JL68; Q9JL69; DT 19-JUL-2004, integrated into UniProtKB/Swiss-Prot. DT 27-JUL-2011, sequence version 2. DT 27-MAR-2024, entry version 131. DE RecName: Full=Fanconi anemia group A protein homolog; DE Short=Protein FACA; GN Name=Fanca; 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], AND TISSUE SPECIFICITY. RX PubMed=10754110; DOI=10.1007/s003350010060; RA Van de Vrugt H.J., Cheng N.C., De Vries Y., Rooimans M.A., De Groot J., RA Scheper R.J., Zhi Y., Hoatlin M.E., Joenje H., Arwert F.; RT "Cloning and characterization of murine Fanconi anemia group A gene: Fanca RT protein is expressed in lymphoid tissues, testis, and ovary."; RL Mamm. Genome 11:326-331(2000). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. RC STRAIN=129/SvEvTacfBr, and C57BL/6J; RX PubMed=10936049; DOI=10.1006/geno.2000.6252; RA Wong J.C., Alon N., Norga K., Kruyt F.A.E., Youssoufian H., Buchwald M.; RT "Cloning and analysis of the mouse Fanconi anemia group A cDNA and an RT overlapping penta zinc finger cDNA."; RL Genomics 67:273-283(2000). RN [3] 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). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1130-1439. RA Hildebrand G., Digweed M.; RT "Partial sequence of the murine Fanca gene."; RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases. CC -!- FUNCTION: DNA repair protein that may operate in a postreplication CC repair or a cell cycle checkpoint function. May be involved in CC interstrand DNA cross-link repair and in the maintenance of normal CC chromosome stability (By similarity). {ECO:0000250}. CC -!- SUBUNIT: Belongs to the multisubunit FA complex composed of FANCA, CC FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM (By CC similarity). In complex with FANCF, FANCG and FANCL, but not with CC FANCC, nor FANCE, interacts with HES1; this interaction may be CC essential for the stability and nuclear localization of FA core complex CC proteins (By similarity). The complex with FANCC and FANCG may also CC include EIF2AK2 and HSP70. Interacts with FAAP20; interaction is direct CC (By 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: Mainly expressed in testis and lymphoid tissues CC like thymus, lymph nodes, and spleen, and at lower levels in kidney and CC ovary. {ECO:0000269|PubMed:10754110}. CC -!- PTM: Phosphorylated primarily on serine residues. Phosphorylation is CC required for the formation of the nuclear complex (By similarity). CC {ECO:0000250}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF208116; AAF63963.1; -; mRNA. DR EMBL; AF208117; AAF63964.1; -; mRNA. DR EMBL; AF208118; AAF63965.1; -; mRNA. DR EMBL; AF208120; AAF63966.1; -; mRNA. DR EMBL; AF208121; AAF63967.1; -; mRNA. DR EMBL; AF208122; AAF63968.1; -; mRNA. DR EMBL; AF208123; AAF63969.1; -; mRNA. DR EMBL; AF178934; AAG01633.1; -; mRNA. DR EMBL; AF230373; AAG02637.1; -; Genomic_DNA. DR EMBL; AC155810; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AF247181; AAG00417.1; -; Genomic_DNA. DR CCDS; CCDS22753.1; -. DR RefSeq; NP_058621.2; NM_016925.3. DR AlphaFoldDB; Q9JL70; -. DR SMR; Q9JL70; -. DR BioGRID; 199591; 2. DR STRING; 10090.ENSMUSP00000045217; -. DR iPTMnet; Q9JL70; -. DR PhosphoSitePlus; Q9JL70; -. DR EPD; Q9JL70; -. DR MaxQB; Q9JL70; -. DR PaxDb; 10090-ENSMUSP00000045217; -. DR ProteomicsDB; 277038; -. DR Pumba; Q9JL70; -. DR Antibodypedia; 30916; 471 antibodies from 39 providers. DR DNASU; 14087; -. DR Ensembl; ENSMUST00000035495.15; ENSMUSP00000045217.9; ENSMUSG00000032815.17. DR GeneID; 14087; -. DR KEGG; mmu:14087; -. DR UCSC; uc009nve.2; mouse. DR AGR; MGI:1341823; -. DR CTD; 2175; -. DR MGI; MGI:1341823; Fanca. DR VEuPathDB; HostDB:ENSMUSG00000032815; -. DR eggNOG; ENOG502QT8N; Eukaryota. DR GeneTree; ENSGT00390000007852; -. DR HOGENOM; CLU_005268_0_0_1; -. DR InParanoid; Q9JL70; -. DR OMA; AIPHCPA; -. DR OrthoDB; 5400084at2759; -. DR PhylomeDB; Q9JL70; -. DR TreeFam; TF333412; -. DR Reactome; R-MMU-6783310; Fanconi Anemia Pathway. DR Reactome; R-MMU-9833482; PKR-mediated signaling. DR BioGRID-ORCS; 14087; 26 hits in 115 CRISPR screens. DR ChiTaRS; Fanca; mouse. DR PRO; PR:Q9JL70; -. DR Proteomes; UP000000589; Chromosome 8. DR RNAct; Q9JL70; Protein. DR Bgee; ENSMUSG00000032815; Expressed in granulocyte and 164 other cell types or tissues. DR ExpressionAtlas; Q9JL70; baseline and differential. DR GO; GO:0000785; C:chromatin; ISO:MGI. DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. DR GO; GO:0043240; C:Fanconi anaemia nuclear complex; ISS:UniProtKB. DR GO; GO:0005654; C:nucleoplasm; ISO:MGI. DR GO; GO:0005634; C:nucleus; ISO:MGI. DR GO; GO:0008585; P:female gonad development; IMP:MGI. DR GO; GO:0036297; P:interstrand cross-link repair; IEA:InterPro. DR GO; GO:0008584; P:male gonad development; IMP:MGI. DR GO; GO:0007140; P:male meiotic nuclear division; IMP:MGI. DR GO; GO:0006513; P:protein monoubiquitination; ISO:MGI. DR GO; GO:2000348; P:regulation of CD40 signaling pathway; IMP:MGI. DR GO; GO:1905936; P:regulation of germ cell proliferation; IMP:MGI. DR GO; GO:0050727; P:regulation of inflammatory response; IMP:MGI. DR GO; GO:0045589; P:regulation of regulatory T cell differentiation; IMP:MGI. DR InterPro; IPR003516; FANCA. DR InterPro; IPR031729; Fanconi_A_N. DR PANTHER; PTHR12047; FANCONI ANEMIA GROUP A PROTEIN; 1. DR PANTHER; PTHR12047:SF2; FANCONI ANEMIA GROUP A PROTEIN; 1. DR Pfam; PF03511; Fanconi_A; 1. DR Pfam; PF15865; Fanconi_A_N; 1. DR PRINTS; PR00826; FANCONIAGENE. DR Genevisible; Q9JL70; MM. PE 2: Evidence at transcript level; KW Cytoplasm; DNA damage; DNA repair; Nucleus; Phosphoprotein; KW Reference proteome. FT CHAIN 1..1439 FT /note="Fanconi anemia group A protein homolog" FT /id="PRO_0000087180" FT REGION 1..20 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOTIF 19..35 FT /note="Nuclear localization signal" FT /evidence="ECO:0000255" FT CONFLICT 2 FT /note="P -> L (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 15 FT /note="P -> S (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 43 FT /note="L -> V (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 80 FT /note="R -> F (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 107..108 FT /note="VP -> SS (in Ref. 1; AAF63969)" FT /evidence="ECO:0000305" FT CONFLICT 110 FT /note="G -> GG (in Ref. 1; AAF63969)" FT /evidence="ECO:0000305" FT CONFLICT 147 FT /note="M -> V (in Ref. 1; AAF63963/AAF63964 and 2; FT AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 241 FT /note="S -> L (in Ref. 1; AAF63965)" FT /evidence="ECO:0000305" FT CONFLICT 254 FT /note="V -> I (in Ref. 1; AAF63965)" FT /evidence="ECO:0000305" FT CONFLICT 275 FT /note="L -> I (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 279..288 FT /note="EADPQTTLDC -> GGEPKTNLGW (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 292..294 FT /note="SGW -> GGR (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 310 FT /note="N -> D (in Ref. 1; AAF63963/AAF63964 and 2; FT AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 323 FT /note="I -> T (in Ref. 1; AAF63963/AAF63964 and 2; FT AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 424 FT /note="V -> G (in Ref. 1; AAF63963/AAF63964/AAF63965)" FT /evidence="ECO:0000305" FT CONFLICT 490 FT /note="F -> L (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 599 FT /note="L -> F (in Ref. 1; AAF63963/AAF63964)" FT /evidence="ECO:0000305" FT CONFLICT 833 FT /note="M -> V (in Ref. 1; AAF63964)" FT /evidence="ECO:0000305" FT CONFLICT 862..869 FT /note="FQFVVLRL -> VRVSHSSF (in Ref. 1; AAF63964)" FT /evidence="ECO:0000305" FT CONFLICT 1049 FT /note="R -> Q (in Ref. 2; AAG01633)" FT /evidence="ECO:0000305" FT CONFLICT 1159 FT /note="I -> V (in Ref. 4; AAG00417)" FT /evidence="ECO:0000305" SQ SEQUENCE 1439 AA; 161213 MW; 4E26EA18BBCE6DA4 CRC64; MPGSPARGAA MGGGPRGLRK TWTELLAGRV KKQKYDPERE QKLKDSALKL LRYHQNMHDL LLEVEEPQCK RLRLSELIDR DSADASSDRS ASFIRSAFRD QASRLGVPVG VLSAKVFARS VQQVCVEPSH PVLLSPEQSK KLSSLLMIAR HLLAQNMFSR LTFCQELWKA QNSLLLEAMW RLHTHSVVSL QELLQSHPDS EAMAMWLFRN LRSLCEQIGA SCPSPDTTEA MLSGLVQLLI SRGFQGSSDP RRLVEPERLP QVATDVLQRM LAFSLDTLEA DPQTTLDCQA VSGWIPIYSG HTCCGVVTEN SLKSFFSHTL TQILTHKPVL KVSDAIQMQK EWSFAKTHHL LTDLHCRVLA TLGPEESVGR LQEVLEMQEV NWQHVLSCVS TLVVCFPEAQ QLVKGWVASL MARAFESYHL DSMVTAFLIV RQATLEGPYV FPSYADWFKE SFGSSHGYHS CSKKTLVFLF KFLSDLVPWE APRYMQVHIF HPPLVPSKYH SLLTDYISLA KTRLADLKVS LENVGLYEDL SSPGDIAERE SQAVQDVKKA IMVFEQTGKI PMPVLEASIF RRPYYVSHFL PTLLAPRVLP EVPDPRVALI ETLKRADKIP SSIYDAYRKA CASAEKQQPE NATSAQRTEA DCAKEPLGLL TAALEELRAL MTDPTQYSVI SAQVAVVSEK LNAVLGHRND GGSLQRAKIQ LSVLPSTLQK QDQAVVDLLL TAFCQNLMAA SSFVPPERQS PWAVLFVRTL CGHVLLPAVL TRLRQLLRHQ GQSLSTSHVL GLAALAVHLG ECRSMLPEVD PDVLAPSAGS LCVPDFLNSL LTCRTRDSLL FCMNFCTAAV SYCLCKFSAL RNCLSPGLIK KFQFVVLRLF PEARAPCAPE HAACVPWRPL YLPSADWQRA ALSLWRRDSF QELLKDKEFY LTYRDWVQLE LEIQPEADVL SDMERHDFHQ WAIYERYLPA PTALGGCGGD LEEACTVLVS EIMDFHQSSR SYNHSEDSDL VLGGRTGNKD ILSRLQEIAL DLELDQGSAV PHGCSTPQSH FLFRVFRRRL QALARPDSMA TSLRRQQELL TCKRLLLCLP PSVLVGGPQA GQPISPNCGE FFSLVNSELR NFCCHGSVLT SDITIHFFRG LLRVCLRSQD PALVANQTLT ECQTKCPVIL TSALLWWSSL EPVLCGRWMR CYQSPLPREL RRLQEAREFA SNFASASASP APSPAWIAAA ALHFAWRGVR KEDVTAHLQR LDCQREELLI ALFFFSLMGL LSSYLTQRDT AEHLKAVDIC AEVLTCLERR KVSWLVLFQL TEKDAKLGHL LHLAPDQHTR LLPLAFYSLL SCFSEGAAVR EAAFLHVAVD MYLKLLQLFV DGETRLQGHS ESQGSPVQLI TKARVFLLQL IPQCPKQCFS NMTELLAGRG DCDPEVSNAL RQRQQADPSF DLYQEPQLF //