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 Genevisible; Q9JL70; MM.
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.
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
//
