BOP_HUMAN
ID BOP_HUMAN Reviewed; 364 AA.
AC Q7L3V2; A8K5E7; D3DX21; Q6MZM8; Q6N000; Q9H7A0;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-MAY-2005, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Protein Bop {ECO:0000303|PubMed:23055042};
DE AltName: Full=BH3-only protein;
DE AltName: Full=Retrotransposon Gag-like protein 10 {ECO:0000312|HGNC:HGNC:26112};
GN Name=RTL10 {ECO:0000312|HGNC:HGNC:26112}; Synonyms=BOP, C22orf29;
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].
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], AND VARIANT TYR-123.
RC TISSUE=Endometrial tumor, and Uterine endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
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 [6]
RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION, INTERACTION WITH VDAC1;
RP BCL2; BCL2L1; MCL1; BCL2A1; BCL2L2; BAX AND BAK1, AND MUTAGENESIS OF
RP LEU-118; GLN-120; GLY-122 AND ASP-123.
RX PubMed=23055042; DOI=10.1007/s13238-012-2069-7;
RA Zhang X., Weng C., Li Y., Wang X., Jiang C., Li X., Xu Y., Chen Q., Pan L.,
RA Tang H.;
RT "Human Bop is a novel BH3-only member of the Bcl-2 protein family.";
RL Protein Cell 3:790-801(2012).
CC -!- FUNCTION: Could induce apoptosis in a BH3 domain-dependent manner. The
CC direct interaction network of Bcl-2 family members may play a key role
CC in modulation RTL10/BOP intrinsic apoptotic signaling activity.
CC {ECO:0000269|PubMed:23055042}.
CC -!- SUBUNIT: Interacts (via BH3 domain) with VDAC1. Interacts with pro-
CC survival Bcl-2 family members, BCL2, BCL2L1 isoform Bcl-X(L), MCL1,
CC BCL2A1 and BCL2L2. Interacts with BAX and BAK1.
CC {ECO:0000269|PubMed:23055042}.
CC -!- INTERACTION:
CC Q7L3V2; Q16611: BAK1; NbExp=2; IntAct=EBI-10697720, EBI-519866;
CC Q7L3V2; Q07812: BAX; NbExp=2; IntAct=EBI-10697720, EBI-516580;
CC Q7L3V2; Q07817-1: BCL2L1; NbExp=3; IntAct=EBI-10697720, EBI-287195;
CC Q7L3V2; Q92843: BCL2L2; NbExp=5; IntAct=EBI-10697720, EBI-707714;
CC Q7L3V2; Q07820: MCL1; NbExp=2; IntAct=EBI-10697720, EBI-1003422;
CC Q7L3V2; P21796: VDAC1; NbExp=2; IntAct=EBI-10697720, EBI-354158;
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:23055042}.
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed.
CC {ECO:0000269|PubMed:23055042}.
CC -!- DOMAIN: The BH3 motif is required for pro-apoptotic activity and for
CC interaction with pro-survival Bcl-2 family members.
CC {ECO:0000269|PubMed:23055042}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14998.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK291262; BAF83951.1; -; mRNA.
DR EMBL; BX640785; CAE45875.1; -; mRNA.
DR EMBL; BX640969; CAE45984.1; -; mRNA.
DR EMBL; BX640998; CAE46001.1; -; mRNA.
DR EMBL; AC000076; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471176; EAX03018.1; -; Genomic_DNA.
DR EMBL; CH471176; EAX03019.1; -; Genomic_DNA.
DR EMBL; BC011679; AAH11679.2; -; mRNA.
DR EMBL; AK024778; BAB14998.1; ALT_INIT; mRNA.
DR CCDS; CCDS13769.1; -.
DR RefSeq; NP_078903.3; NM_024627.5.
DR AlphaFoldDB; Q7L3V2; -.
DR BioGRID; 122804; 18.
DR IntAct; Q7L3V2; 10.
DR STRING; 9606.ENSP00000384924; -.
DR iPTMnet; Q7L3V2; -.
DR PhosphoSitePlus; Q7L3V2; -.
DR BioMuta; RTL10; -.
DR DMDM; 74739166; -.
DR EPD; Q7L3V2; -.
DR MassIVE; Q7L3V2; -.
DR MaxQB; Q7L3V2; -.
DR PaxDb; Q7L3V2; -.
DR PeptideAtlas; Q7L3V2; -.
DR PRIDE; Q7L3V2; -.
DR ProteomicsDB; 68773; -.
DR Antibodypedia; 201; 24 antibodies from 9 providers.
DR DNASU; 79680; -.
DR Ensembl; ENST00000328554.9; ENSP00000330596.4; ENSG00000215012.9.
DR Ensembl; ENST00000405640.1; ENSP00000384924.1; ENSG00000215012.9.
DR Ensembl; ENST00000407472.5; ENSP00000386111.1; ENSG00000215012.9.
DR GeneID; 79680; -.
DR KEGG; hsa:79680; -.
DR MANE-Select; ENST00000328554.9; ENSP00000330596.4; NM_024627.6; NP_078903.3.
DR UCSC; uc002zqg.4; human.
DR CTD; 79680; -.
DR DisGeNET; 79680; -.
DR GeneCards; RTL10; -.
DR HGNC; HGNC:26112; RTL10.
DR HPA; ENSG00000215012; Low tissue specificity.
DR neXtProt; NX_Q7L3V2; -.
DR OpenTargets; ENSG00000215012; -.
DR PharmGKB; PA145149415; -.
DR VEuPathDB; HostDB:ENSG00000215012; -.
DR eggNOG; ENOG502TE0G; Eukaryota.
DR GeneTree; ENSGT00940000166811; -.
DR HOGENOM; CLU_801582_0_0_1; -.
DR InParanoid; Q7L3V2; -.
DR OMA; LSRVCEI; -.
DR OrthoDB; 998632at2759; -.
DR PhylomeDB; Q7L3V2; -.
DR TreeFam; TF342426; -.
DR PathwayCommons; Q7L3V2; -.
DR SignaLink; Q7L3V2; -.
DR BioGRID-ORCS; 79680; 18 hits in 1053 CRISPR screens.
DR GenomeRNAi; 79680; -.
DR Pharos; Q7L3V2; Tbio.
DR PRO; PR:Q7L3V2; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q7L3V2; protein.
DR Bgee; ENSG00000215012; Expressed in decidua and 149 other tissues.
DR ExpressionAtlas; Q7L3V2; baseline and differential.
DR Genevisible; Q7L3V2; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0097345; P:mitochondrial outer membrane permeabilization; IMP:UniProtKB.
DR GO; GO:0051881; P:regulation of mitochondrial membrane potential; IMP:UniProtKB.
DR InterPro; IPR031298; Bop.
DR InterPro; IPR032549; DUF4939.
DR InterPro; IPR032567; LDOC1-rel.
DR PANTHER; PTHR15503; PTHR15503; 1.
DR PANTHER; PTHR15503:SF4; PTHR15503:SF4; 1.
DR Pfam; PF16297; DUF4939; 1.
PE 1: Evidence at protein level;
KW Apoptosis; Mitochondrion; Reference proteome.
FT CHAIN 1..364
FT /note="Protein Bop"
FT /id="PRO_0000295910"
FT REGION 66..88
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 258..364
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 114..128
FT /note="BH3"
FT VARIANT 116
FT /note="R -> H (in dbSNP:rs17745302)"
FT /id="VAR_034590"
FT VARIANT 123
FT /note="D -> Y (in dbSNP:rs34027839)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_034591"
FT MUTAGEN 118
FT /note="L->A: Reduces the pro-apoptotic activity and
FT interaction with VDAC1."
FT /evidence="ECO:0000269|PubMed:23055042"
FT MUTAGEN 120
FT /note="Q->A: No effect on interaction with VDAC1."
FT /evidence="ECO:0000269|PubMed:23055042"
FT MUTAGEN 122
FT /note="G->A: No effect on interaction with VDAC1."
FT /evidence="ECO:0000269|PubMed:23055042"
FT MUTAGEN 123
FT /note="D->A: Reduces the pro-apoptotic activity, no effect
FT on interaction with VDAC1."
FT /evidence="ECO:0000269|PubMed:23055042"
FT CONFLICT 124
FT /note="Y -> H (in Ref. 1; BAF83951)"
FT /evidence="ECO:0000305"
FT CONFLICT 206
FT /note="A -> V (in Ref. 2; CAE45984/CAE46001)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 364 AA; 39299 MW; 28FD406757BE082A CRC64;
MPRGRCRQQG PRIPIWAAAN YANAHPWQQM DKASPGVAYT PLVDPWIERP CCGDTVCVRT
TMEQKSTASG TCGGKPAERG PLAGHMPSSR PHRVDFCWVP GSDPGTFDGS PWLLDRFLAQ
LGDYMSFHFE HYQDNISRVC EILRRLTGRA QAWAAPYLDG DLPLPDDYEL FCQDLKEVVQ
DPNSFAEYHA VVTCPLPLAS SQLPVAPQLP VVRQYLARFL EGLALDMGTA PRSLPAAMAT
PAVSGSNSVS RSALFEQQLT KESTPGPKEP PVLPSSTCSS KPGPVEPASS QPEEAAPTPV
PRLSESANPP AQRPDPAHPG GPKPQKTEEE VLETEGDQEV SLGTPQEVVE APETPGEPPL
SPGF
