BRME1_HUMAN
ID BRME1_HUMAN Reviewed; 668 AA.
AC Q0VDD7; Q13411; Q8N825; Q96D63; Q9BU49;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Break repair meiotic recombinase recruitment factor 1 {ECO:0000305};
DE AltName: Full=Pre-T/NK cell-associated protein 3B3;
GN Name=BRME1 {ECO:0000312|HGNC:HGNC:28153}; Synonyms=C19orf57;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 123-668 (ISOFORM 1), AND VARIANTS ARG-267 AND
RP ARG-500.
RC TISSUE=Lung, and Mammary gland;
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]
RP IDENTIFICATION.
RX PubMed=8228263;
RA Ranes-Goldberg M.G., Hori T., Mohan-Peterson S., Spits H.;
RT "Identification of human pre-T/NK cell-associated genes.";
RL J. Immunol. 151:5810-5821(1993).
RN [4]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-370, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-370, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Meiotic recombination factor component of recombination
CC bridges involved in meiotic double-strand break repair. Modulates the
CC localization of recombinases DMC1:RAD51 to meiotic double-strand break
CC (DSB) sites through the interaction with and stabilization of the
CC BRCA2:HSF2BP complex during meiotic recombination. Indispensable for
CC the DSB repair, homologous synapsis, and crossover formation that are
CC needed for progression past metaphase I, is essential for
CC spermatogenesis and male fertility. {ECO:0000250|UniProtKB:Q6DIA7}.
CC -!- SUBUNIT: Interacts with HSF2BP (via N-terminus) and BRCA2; the
CC interaction with HSF2BP is direct and allows the formation of a ternary
CC complex. The complex BRME1:HSF2BP:BRCA2 interacts with SPATA22, MEIOB
CC and RAD51. {ECO:0000250|UniProtKB:Q6DIA7}.
CC -!- INTERACTION:
CC Q0VDD7; Q13155: AIMP2; NbExp=8; IntAct=EBI-741210, EBI-745226;
CC Q0VDD7; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-741210, EBI-2837444;
CC Q0VDD7; P50990: CCT8; NbExp=3; IntAct=EBI-741210, EBI-356507;
CC Q0VDD7; Q9BT78: COPS4; NbExp=2; IntAct=EBI-741210, EBI-742413;
CC Q0VDD7; Q9UBT7: CTNNAL1; NbExp=3; IntAct=EBI-741210, EBI-514206;
CC Q0VDD7; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-741210, EBI-10175124;
CC Q0VDD7; Q68CZ6: HAUS3; NbExp=3; IntAct=EBI-741210, EBI-2558217;
CC Q0VDD7; Q86YM7: HOMER1; NbExp=3; IntAct=EBI-741210, EBI-746815;
CC Q0VDD7; O60333-2: KIF1B; NbExp=3; IntAct=EBI-741210, EBI-10975473;
CC Q0VDD7; O76015: KRT38; NbExp=3; IntAct=EBI-741210, EBI-1047263;
CC Q0VDD7; Q6A162: KRT40; NbExp=3; IntAct=EBI-741210, EBI-10171697;
CC Q0VDD7; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-741210, EBI-10172290;
CC Q0VDD7; P60411: KRTAP10-9; NbExp=4; IntAct=EBI-741210, EBI-10172052;
CC Q0VDD7; P28331-2: NDUFS1; NbExp=3; IntAct=EBI-741210, EBI-6190702;
CC Q0VDD7; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-741210, EBI-2811583;
CC Q0VDD7; P60900: PSMA6; NbExp=3; IntAct=EBI-741210, EBI-357793;
CC Q0VDD7; Q06455-4: RUNX1T1; NbExp=3; IntAct=EBI-741210, EBI-10224192;
CC Q0VDD7; P61764: STXBP1; NbExp=3; IntAct=EBI-741210, EBI-960169;
CC Q0VDD7; P36406: TRIM23; NbExp=4; IntAct=EBI-741210, EBI-740098;
CC Q0VDD7; Q99576-3: TSC22D3; NbExp=3; IntAct=EBI-741210, EBI-10294415;
CC Q0VDD7; P02766: TTR; NbExp=3; IntAct=EBI-741210, EBI-711909;
CC Q0VDD7; O76024: WFS1; NbExp=3; IntAct=EBI-741210, EBI-720609;
CC Q0VDD7-2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-12040255, EBI-10173507;
CC Q0VDD7-2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12040255, EBI-3867333;
CC Q0VDD7-2; Q15323: KRT31; NbExp=3; IntAct=EBI-12040255, EBI-948001;
CC Q0VDD7-2; O76011: KRT34; NbExp=3; IntAct=EBI-12040255, EBI-1047093;
CC Q0VDD7-2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-12040255, EBI-10171774;
CC Q0VDD7-2; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-12040255, EBI-22310682;
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q6DIA7}.
CC Note=During meiosis, recruited to chromosomes and localizes on
CC recombination sites in a double-strand break-dependent manner. First
CC appears on the chromosome axis at leptotene. Along with the progression
CC of meiotic recombination, released from the axis to form bridge-like
CC structures linking homolog axes before they are synapsed. Finally,
CC located between synapsed homolog axes and on the synaptonemal complex
CC (SC). {ECO:0000250|UniProtKB:Q6DIA7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q0VDD7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q0VDD7-2; Sequence=VSP_027044;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAB02340.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AK097431; BAC05049.1; -; mRNA.
DR EMBL; BC002891; AAH02891.2; -; mRNA.
DR EMBL; BC012945; AAH12945.2; -; mRNA.
DR EMBL; BC119719; AAI19720.1; -; mRNA.
DR EMBL; L17327; AAB02340.1; ALT_SEQ; mRNA.
DR CCDS; CCDS12299.1; -. [Q0VDD7-2]
DR RefSeq; NP_001332773.1; NM_001345844.1. [Q0VDD7-2]
DR RefSeq; NP_077299.3; NM_024323.4. [Q0VDD7-2]
DR AlphaFoldDB; Q0VDD7; -.
DR BioGRID; 122590; 51.
DR IntAct; Q0VDD7; 41.
DR MINT; Q0VDD7; -.
DR STRING; 9606.ENSP00000254336; -.
DR iPTMnet; Q0VDD7; -.
DR PhosphoSitePlus; Q0VDD7; -.
DR BioMuta; C19orf57; -.
DR DMDM; 158564134; -.
DR jPOST; Q0VDD7; -.
DR MassIVE; Q0VDD7; -.
DR MaxQB; Q0VDD7; -.
DR PaxDb; Q0VDD7; -.
DR PeptideAtlas; Q0VDD7; -.
DR PRIDE; Q0VDD7; -.
DR ProteomicsDB; 58818; -. [Q0VDD7-1]
DR ProteomicsDB; 58819; -. [Q0VDD7-2]
DR Antibodypedia; 50171; 43 antibodies from 14 providers.
DR DNASU; 79173; -.
DR Ensembl; ENST00000346736.6; ENSP00000254336.1; ENSG00000132016.12. [Q0VDD7-2]
DR Ensembl; ENST00000586783.6; ENSP00000465822.1; ENSG00000132016.12. [Q0VDD7-1]
DR Ensembl; ENST00000672170.1; ENSP00000500215.1; ENSG00000288152.1. [Q0VDD7-1]
DR Ensembl; ENST00000672786.1; ENSP00000500761.1; ENSG00000288152.1. [Q0VDD7-2]
DR GeneID; 79173; -.
DR KEGG; hsa:79173; -.
DR MANE-Select; ENST00000586783.6; ENSP00000465822.1; NM_001345843.2; NP_001332772.2.
DR UCSC; uc002mxk.2; human. [Q0VDD7-1]
DR CTD; 79173; -.
DR GeneCards; BRME1; -.
DR HGNC; HGNC:28153; BRME1.
DR HPA; ENSG00000132016; Tissue enhanced (testis).
DR MIM; 619276; gene.
DR neXtProt; NX_Q0VDD7; -.
DR OpenTargets; ENSG00000132016; -.
DR VEuPathDB; HostDB:ENSG00000132016; -.
DR eggNOG; ENOG502SVQQ; Eukaryota.
DR GeneTree; ENSGT00390000016855; -.
DR HOGENOM; CLU_029361_0_0_1; -.
DR InParanoid; Q0VDD7; -.
DR OMA; HETQEPT; -.
DR OrthoDB; 573895at2759; -.
DR PhylomeDB; Q0VDD7; -.
DR TreeFam; TF337646; -.
DR PathwayCommons; Q0VDD7; -.
DR SignaLink; Q0VDD7; -.
DR BioGRID-ORCS; 79173; 4 hits in 1049 CRISPR screens.
DR ChiTaRS; C19orf57; human.
DR GenomeRNAi; 79173; -.
DR Pharos; Q0VDD7; Tdark.
DR PRO; PR:Q0VDD7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q0VDD7; protein.
DR Bgee; ENSG00000132016; Expressed in right testis and 94 other tissues.
DR ExpressionAtlas; Q0VDD7; baseline and differential.
DR Genevisible; Q0VDD7; HS.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:1990918; P:double-strand break repair involved in meiotic recombination; ISS:UniProtKB.
DR GO; GO:0007144; P:female meiosis I; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISS:UniProtKB.
DR InterPro; IPR031441; Brme1.
DR PANTHER; PTHR14583; PTHR14583; 1.
DR Pfam; PF15710; Brme1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosome; Meiosis; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..668
FT /note="Break repair meiotic recombinase recruitment factor
FT 1"
FT /id="PRO_0000295737"
FT REGION 1..142
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 155..333
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 349..465
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 482..521
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 642..668
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 110..127
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 168..185
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 212..252
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 306..332
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 370
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332,
FT ECO:0007744|PubMed:23186163"
FT VAR_SEQ 588..619
FT /note="RTFVGIQASEASRMEDATNVVRGLIVELSNLN -> S (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_027044"
FT VARIANT 267
FT /note="G -> R (in dbSNP:rs2305775)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033356"
FT VARIANT 500
FT /note="Q -> R (in dbSNP:rs3803892)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_033357"
FT CONFLICT 491
FT /note="D -> E (in Ref. 2; AAI19720)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 668 AA; 69556 MW; 64E4242D2B5C6507 CRC64;
MTKRKKLRTS GEGLCPPKPL KNPRLGDFYG DPQSSMLGCL HHPEEPEGKL GPVPSTQQHG
EEPGKAVSSS PDEETGSPCR LLRQPEKEPA PLPPSQNSFG RFVPQFAKSR KTVTRKEEMK
DEDRGSGAFS LETIAESSAQ SPGCQLLVET LGVPLQEATE LGDPTQADSA RPEQSSQSPV
QAVPGSGDSQ PDDPPDRGTG LSASQRASQD HLSEQGADDS KPETDRVPGD GGQKEHLPSI
DSEGEKPDRG APQEGGAQRT AGAGLPGGPQ EEGDGVPCTP ASAPTSGPAP GLGPASWCLE
PGSVAQGSPD PQQTPSRMGR EGEGTHSSLG CSSLGMVVIA DLSTDPTELE ERALEVAGPD
GQASAISPAS PRRKAADGGH RRALPGCTSL TGETTGESGE AGQDGKPPGD VLVGPTASLA
LAPGSGESMM GAGDSGHASP DTGPCVNQKQ EPGPAQEEAE LGGQNLERDL EGFRVSPQAS
VVLEHREIAD DPLQEPGAQQ GIPDTTSELA GQRDHLPHSA DQGTWADSLA VELDFLLDSQ
IQDALDASDF EAPPEQLFPS GNKPGPCWPG PSSHANGDPV AVAKAQPRTF VGIQASEASR
MEDATNVVRG LIVELSNLNR LIMGTHRDLE AFKRLNYRKT KLGGKAPLPY PSKGPGNIPR
GDPPWREL
