XRRA1_HUMAN
ID XRRA1_HUMAN Reviewed; 792 AA.
AC Q6P2D8; B5MD90; J3KNJ1; Q7RTT7; Q7Z463; Q7Z4U0;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=X-ray radiation resistance-associated protein 1;
GN Name=XRRA1 {ECO:0000312|EMBL:AAH64584.1};
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAH64584.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5), AND VARIANT
RP ARG-473.
RC TISSUE=Brain {ECO:0000312|EMBL:AAH64584.1}, and Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3] {ECO:0000305, ECO:0000312|EMBL:DAA00367.1}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 229-380 (ISOFORM 3), IDENTIFICATION (ISOFORM
RP 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RC TISSUE=Colon cancer {ECO:0000269|PubMed:12908878};
RX PubMed=12908878; DOI=10.1186/1471-2164-4-32;
RA Mesak F.M., Osada N., Hashimoto K., Liu Q.Y., Ng C.E.;
RT "Molecular cloning, genomic characterization and over-expression of a novel
RT gene, XRRA1, identified from human colorectal cancer cell HCT116Clone2_XRR
RT and macaque testis.";
RL BMC Genomics 4:32-32(2003).
RN [4] {ECO:0000305, ECO:0000312|EMBL:AAP97315.1}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 293-792 (ISOFORM 4).
RA Guo J.H., Zan Q., Yu L.;
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: May be involved in the response of cells to X-ray radiation.
CC {ECO:0000269|PubMed:12908878}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12908878}. Nucleus
CC {ECO:0000269|PubMed:12908878}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1 {ECO:0000305};
CC IsoId=Q6P2D8-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:15489334};
CC IsoId=Q6P2D8-2; Sequence=VSP_052670, VSP_052673, VSP_052674;
CC Name=3 {ECO:0000269|PubMed:12908878};
CC IsoId=Q6P2D8-3; Sequence=VSP_052672;
CC Name=4;
CC IsoId=Q6P2D8-4; Sequence=VSP_052671;
CC Name=5;
CC IsoId=Q6P2D8-5; Sequence=VSP_044988, VSP_044989;
CC -!- TISSUE SPECIFICITY: Expressed predominantly in testis followed by
CC prostate and ovary. Low levels found in other tissues including
CC peripheral blood leukocytes, spleen, thymus, small intestine and colon.
CC Also expressed in neuroblastoma, glioma, breast, lung, leukemia, renal,
CC ovarian, prostate and colorectal cancer cell lines.
CC {ECO:0000269|PubMed:12908878}.
CC -!- INDUCTION: By X-ray irradiation immediately after exposure and is then
CC down-regulated two-fold in an X-ray radiation-resistant cell clone.
CC Responds differently to X-ray radiation in clones of varying radiation
CC responses. {ECO:0000269|PubMed:12908878}.
CC -!- MISCELLANEOUS: [Isoform 1]: Gene model based on mouse cDNA data.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAO23657.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAP97315.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AP000560; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001992; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037294; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC064584; AAH64584.1; -; mRNA.
DR EMBL; AY163836; AAO23657.1; ALT_FRAME; mRNA.
DR EMBL; AF439934; AAP97315.1; ALT_FRAME; mRNA.
DR EMBL; BK000541; DAA00367.1; -; mRNA.
DR CCDS; CCDS44680.1; -. [Q6P2D8-1]
DR CCDS; CCDS58159.1; -. [Q6P2D8-5]
DR CCDS; CCDS58160.1; -. [Q6P2D8-2]
DR RefSeq; NP_001257309.1; NM_001270380.1. [Q6P2D8-2]
DR RefSeq; NP_001257310.1; NM_001270381.1. [Q6P2D8-5]
DR RefSeq; NP_892014.1; NM_182969.2. [Q6P2D8-1]
DR RefSeq; XP_016872722.1; XM_017017233.1.
DR RefSeq; XP_016872723.1; XM_017017234.1.
DR AlphaFoldDB; Q6P2D8; -.
DR BioGRID; 126811; 10.
DR IntAct; Q6P2D8; 4.
DR STRING; 9606.ENSP00000339918; -.
DR iPTMnet; Q6P2D8; -.
DR PhosphoSitePlus; Q6P2D8; -.
DR BioMuta; XRRA1; -.
DR DMDM; 166919153; -.
DR MassIVE; Q6P2D8; -.
DR PaxDb; Q6P2D8; -.
DR PeptideAtlas; Q6P2D8; -.
DR PRIDE; Q6P2D8; -.
DR Antibodypedia; 45035; 54 antibodies from 15 providers.
DR DNASU; 143570; -.
DR Ensembl; ENST00000321448.12; ENSP00000319303.8; ENSG00000166435.16. [Q6P2D8-5]
DR Ensembl; ENST00000340360.10; ENSP00000339918.6; ENSG00000166435.16. [Q6P2D8-1]
DR Ensembl; ENST00000527087.5; ENSP00000435838.1; ENSG00000166435.16. [Q6P2D8-2]
DR GeneID; 143570; -.
DR KEGG; hsa:143570; -.
DR UCSC; uc001ovp.5; human. [Q6P2D8-1]
DR CTD; 143570; -.
DR DisGeNET; 143570; -.
DR GeneCards; XRRA1; -.
DR HGNC; HGNC:18868; XRRA1.
DR HPA; ENSG00000166435; Tissue enhanced (testis).
DR MIM; 609788; gene.
DR neXtProt; NX_Q6P2D8; -.
DR OpenTargets; ENSG00000166435; -.
DR PharmGKB; PA134988069; -.
DR VEuPathDB; HostDB:ENSG00000166435; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00390000016048; -.
DR HOGENOM; CLU_015169_0_0_1; -.
DR InParanoid; Q6P2D8; -.
DR OMA; CELVFHN; -.
DR OrthoDB; 799626at2759; -.
DR PhylomeDB; Q6P2D8; -.
DR TreeFam; TF329758; -.
DR PathwayCommons; Q6P2D8; -.
DR SignaLink; Q6P2D8; -.
DR BioGRID-ORCS; 143570; 14 hits in 1081 CRISPR screens.
DR ChiTaRS; XRRA1; human.
DR GenomeRNAi; 143570; -.
DR Pharos; Q6P2D8; Tdark.
DR PRO; PR:Q6P2D8; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q6P2D8; protein.
DR Bgee; ENSG00000166435; Expressed in sural nerve and 106 other tissues.
DR ExpressionAtlas; Q6P2D8; baseline and differential.
DR Genevisible; Q6P2D8; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0010165; P:response to X-ray; IDA:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR038894; XRRA1.
DR PANTHER; PTHR22710; PTHR22710; 1.
DR SMART; SM00369; LRR_TYP; 4.
DR PROSITE; PS51450; LRR; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Cytoplasm; Leucine-rich repeat; Nucleus;
KW Reference proteome; Repeat.
FT CHAIN 1..792
FT /note="X-ray radiation resistance-associated protein 1"
FT /id="PRO_0000318130"
FT REPEAT 104..125
FT /note="LRR 1"
FT REPEAT 141..155
FT /note="LRR 2"
FT REPEAT 164..184
FT /note="LRR 3"
FT REPEAT 188..209
FT /note="LRR 4"
FT REPEAT 229..250
FT /note="LRR 5"
FT REPEAT 254..275
FT /note="LRR 6"
FT REGION 490..517
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 537..562
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 577..601
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 723..745
FT /evidence="ECO:0000255"
FT COMPBIAS 493..514
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..233
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044988"
FT VAR_SEQ 327..413
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052670"
FT VAR_SEQ 327..382
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|Ref.4"
FT /id="VSP_052671"
FT VAR_SEQ 327..340
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12908878"
FT /id="VSP_052672"
FT VAR_SEQ 341..382
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_044989"
FT VAR_SEQ 674..685
FT /note="AQRIPIPPPKKT -> VLSCTSGQNGGW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052673"
FT VAR_SEQ 686..792
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_052674"
FT VARIANT 473
FT /note="T -> R (in dbSNP:rs4944960)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_038693"
FT VARIANT 480
FT /note="K -> E (in dbSNP:rs12291445)"
FT /id="VAR_051492"
FT CONFLICT 3
FT /note="F -> L (in Ref. 2; AAH64584)"
FT /evidence="ECO:0000305"
FT CONFLICT 356
FT /note="V -> M (in Ref. 3; AAO23657)"
FT /evidence="ECO:0000305"
FT CONFLICT 778
FT /note="M -> V (in Ref. 2; BC037294)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 792 AA; 89864 MW; 6EBEDF9540535BC2 CRC64;
MAFSGIYKLD DGKPYLNNCF PARNLLRVPE EGQGHWLVVQ KGNLKKKPKG LVGAQAERRE
SLKATSFEFK GKKESRRENQ VDLPGHILDQ AFLLKHHCVR KPSDLCTINA KENDFKHFHS
VIYINASENL LPLEAFHTFP ALKELDLAFN GIKTIYVKYG DFKLLEFLDL SFNSLTVEAI
CDLGILPHLR VLLLTGNGLT SLPPNLAVAE QEASVTSLTS KRYILRFPAL ETLMLDDNRL
SNPSCFASLA GLRRLKKLSL DENRIIRIPY LQQVQLYDES VDWNGGRGSP HKEPQFMLQS
KPRMLEDSDE QLDYTVLPMK KDVDRTEVVF SSYPGFSTSE TTKICSLPPI FEILPVKSLK
ARNQTLAPPF PELRYLSLAY NKIAKEDAVL PVALFPSLCE FVFHNNPLVA HTRGVPPLLK
SFLQERLGIH LIRRKIVKPK HHVLMSRKES WKVKSEIPKV PKQPLVLHHP RMTTTKSPSK
DMLEPEAELA EDLPTTKSTS VESEMPTENL EGHSPSCRTF VPLPPICSNS TVHSEETLSH
LSDTTVRLSP ERPSDEDSKS TESIFLTQVS ELPSSVIHKD DLELKEKDQK KPPTAPREVK
GTRRKLPTAF LPSKYHGYEE LLTAKPDPAF IEPKGIQKNA QALQQMLKHP LLCHSSKPKL
DTLQKPYVHK EKRAQRIPIP PPKKTRAQLL DDIFIRLRDP RNITEAPLGA VLHQWTERRL
VNHKQYLEAK RLLKEFQARY RQLVSGSLRT VFGTTPLPMA CPALSESQPK FGHFLEFMDE
FCQEPTASDS QG
