ID   DIRC1_HUMAN             Reviewed;         104 AA.
AC   Q969H9; Q08AK1;
DT   21-JUN-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   03-AUG-2022, entry version 114.
DE   RecName: Full=Disrupted in renal carcinoma protein 1;
DE   AltName: Full=Disrupted in renal cancer protein;
GN   Name=DIRC1;
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]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY, VARIANT
RP   ALA-51, AND CHROMOSOMAL TRANSLOCATION.
RX   PubMed=11587072; DOI=10.1007/s100380170025;
RA   Druck T., Podolski J., Byrski T., Wyrwicz L., Zajaczek S., Kata G.,
RA   Borowka A., Lubinski J., Huebner K.;
RT   "The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated
RT   t(2;3)(q33;q21) chromosome translocation.";
RL   J. Hum. Genet. 46:583-589(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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).
CC   -!- TISSUE SPECIFICITY: Expressed at low steady-state level in adult
CC       placenta, testis, ovary, prostate, fetal kidney, spleen and skeletal
CC       muscle. {ECO:0000269|PubMed:11587072}.
CC   -!- DISEASE: Note=A chromosomal aberration involving DIRC1 is associated
CC       with familial clear cell renal carcinoma (PubMed:11587072).
CC       Translocation t(2;3)(q33;q21) (PubMed:11587072).
CC       {ECO:0000269|PubMed:11587072}.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC       Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/DIRC1ID499.html";
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DR   EMBL; AY039011; AAK83469.1; -; mRNA.
DR   EMBL; AY039013; AAK83468.1; -; Genomic_DNA.
DR   EMBL; AC079613; AAY15021.1; -; Genomic_DNA.
DR   EMBL; BC125137; AAI25138.1; -; mRNA.
DR   RefSeq; NP_443184.1; NM_052952.2.
DR   RefSeq; XP_016858770.1; XM_017003281.1.
DR   AlphaFoldDB; Q969H9; -.
DR   BioGRID; 125473; 1.
DR   STRING; 9606.ENSP00000307860; -.
DR   BioMuta; DIRC1; -.
DR   PaxDb; Q969H9; -.
DR   PRIDE; Q969H9; -.
DR   UCSC; uc002uqi.2; human.
DR   GeneCards; DIRC1; -.
DR   HGNC; HGNC:15760; DIRC1.
DR   MIM; 606423; gene.
DR   neXtProt; NX_Q969H9; -.
DR   PharmGKB; PA27340; -.
DR   eggNOG; ENOG502TJ20; Eukaryota.
DR   HOGENOM; CLU_2249167_0_0_1; -.
DR   InParanoid; Q969H9; -.
DR   OrthoDB; 1556305at2759; -.
DR   PathwayCommons; Q969H9; -.
DR   BioGRID-ORCS; 116093; 14 hits in 1058 CRISPR screens.
DR   ChiTaRS; DIRC1; human.
DR   GenomeRNAi; 116093; -.
DR   Pharos; Q969H9; Tdark.
DR   PRO; PR:Q969H9; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q969H9; protein.
DR   Genevisible; Q969H9; HS.
PE   2: Evidence at transcript level;
KW   Chromosomal rearrangement; Reference proteome.
FT   CHAIN           1..104
FT                   /note="Disrupted in renal carcinoma protein 1"
FT                   /id="PRO_0000079912"
FT   REGION          1..23
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         51
FT                   /note="S -> A (in dbSNP:rs72902678)"
FT                   /evidence="ECO:0000269|PubMed:11587072"
FT                   /id="VAR_022549"
FT   VARIANT         92
FT                   /note="L -> S (in dbSNP:rs58846152)"
FT                   /id="VAR_061641"
SQ   SEQUENCE   104 AA;  11440 MW;  DA009FAA807CB5C0 CRC64;
     MPEAHMQPAK LQTSLPTTDH GSKKPVSCYL PPLSNAHPMC IEVQNAQNCS SAAATLEPSI
     ISDTCFYKPI TKDQLSSRSE LNTVRLKCLN SLRGWKILNQ LSLT