ID   BPEC1_HUMAN             Reviewed;         116 AA.
AC   Q9GZL8; Q0VDG2;
DT   27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2001, sequence version 1.
DT   25-MAY-2022, entry version 80.
DE   RecName: Full=Putative BPES syndrome breakpoint region protein;
DE   AltName: Full=BPES candidate 1;
GN   Name=BPESC1;
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].
RC   TISSUE=Testis;
RX   PubMed=10995571; DOI=10.1006/geno.2000.6304;
RA   De Baere E., Fukushima Y., Small K., Udar N., Van Camp G., Verhoeven K.,
RA   Palotie A., De Paepe A., Messiaen L.;
RT   "Identification of BPESC1, a novel gene disrupted by a balanced chromosomal
RT   translocation, t(3;4)(q23;p15.2), in a patient with BPES.";
RL   Genomics 68:296-304(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA   Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA   Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA   Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA   Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA   Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA   Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA   Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA   Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA   Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA   Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA   Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA   Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA   Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA   Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
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   -!- INTERACTION:
CC       Q9GZL8; P28799: GRN; NbExp=3; IntAct=EBI-25861458, EBI-747754;
CC       Q9GZL8; P42858: HTT; NbExp=15; IntAct=EBI-25861458, EBI-466029;
CC       Q9GZL8; O76024: WFS1; NbExp=3; IntAct=EBI-25861458, EBI-720609;
CC   -!- TISSUE SPECIFICITY: Seems to be expressed only in testis.
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DR   EMBL; AF196864; AAG23726.1; -; Genomic_DNA.
DR   EMBL; AF196865; AAG23727.1; -; mRNA.
DR   EMBL; AC069525; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC119686; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; BC119687; -; NOT_ANNOTATED_CDS; mRNA.
DR   AlphaFoldDB; Q9GZL8; -.
DR   SMR; Q9GZL8; -.
DR   IntAct; Q9GZL8; 3.
DR   BioMuta; HGNC:13228; -.
DR   PRIDE; Q9GZL8; -.
DR   GeneCards; BPESC1; -.
DR   HGNC; HGNC:13228; BPESC1.
DR   MIM; 618995; gene.
DR   neXtProt; NX_Q9GZL8; -.
DR   Pharos; Q9GZL8; Tdark.
DR   PRO; PR:Q9GZL8; -.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q9GZL8; protein.
PE   1: Evidence at protein level;
KW   Reference proteome.
FT   CHAIN           1..116
FT                   /note="Putative BPES syndrome breakpoint region protein"
FT                   /id="PRO_0000064976"
SQ   SEQUENCE   116 AA;  12676 MW;  FD6EC10D89862CFB CRC64;
     MGGRDQITNL GSEGETHPWG YSSPPYPLHT FFIPFLPSGF GGSGLGIPSD NEKHDLQDCV
     EVSRPEGPAP ELPSSLCGWN KISSLCGLGF PSRDPKTWDL AMLLSPWVDF FELQLL