BOLL_HUMAN
ID BOLL_HUMAN Reviewed; 283 AA.
AC Q8N9W6; B4DZA4; Q0JW32; Q53T62; Q969U3;
DT 01-MAR-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2004, sequence version 2.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Protein boule-like;
GN Name=BOLL; Synonyms=BOULE;
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 [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND INTERACTION WITH DAZ1 AND DAZL.
RX PubMed=11390979; DOI=10.1073/pnas.131090498;
RA Xu E.Y., Moore F.L., Reijo Pera R.A.;
RT "A gene family required for human germ cell development evolved from an
RT ancient meiotic gene conserved in metazoans.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3 AND 4), SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Testis;
RX PubMed=17114206; DOI=10.1093/molehr/gal101;
RA Kostova E., Yeung C.H., Luetjens C.M., Brune M., Nieschlag E., Gromoll J.;
RT "Association of three isoforms of the meiotic BOULE gene with spermatogenic
RT failure in infertile men.";
RL Mol. Hum. Reprod. 13:85-93(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 5).
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 [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 -!- FUNCTION: Probable RNA-binding protein, which may be required during
CC spermatogenesis. May act by binding to the 3'-UTR of mRNAs and
CC regulating their translation (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with DAZ1 and DAZL. {ECO:0000269|PubMed:11390979}.
CC -!- INTERACTION:
CC Q8N9W6; Q8N9W6: BOLL; NbExp=2; IntAct=EBI-998198, EBI-998198;
CC Q8N9W6; Q6P1W5: C1orf94; NbExp=3; IntAct=EBI-998198, EBI-946029;
CC Q8N9W6; A0A024R5S0: hCG_2003792; NbExp=3; IntAct=EBI-998198, EBI-10188461;
CC Q8N9W6; Q8WVV9: HNRNPLL; NbExp=4; IntAct=EBI-998198, EBI-535849;
CC Q8N9W6; P48146: NPBWR2; NbExp=3; IntAct=EBI-998198, EBI-10210114;
CC Q8N9W6; Q8TB72: PUM2; NbExp=3; IntAct=EBI-998198, EBI-311190;
CC Q8N9W6; O43251: RBFOX2; NbExp=4; IntAct=EBI-998198, EBI-746056;
CC Q8N9W6; Q93062: RBPMS; NbExp=3; IntAct=EBI-998198, EBI-740322;
CC Q8N9W6; Q92734: TFG; NbExp=4; IntAct=EBI-998198, EBI-357061;
CC Q8N9W6; Q66K41: ZNF385C; NbExp=4; IntAct=EBI-998198, EBI-8651919;
CC Q8N9W6-4; O00468-6: AGRN; NbExp=3; IntAct=EBI-11983447, EBI-17740588;
CC Q8N9W6-4; Q5VV41: ARHGEF16; NbExp=3; IntAct=EBI-11983447, EBI-1057448;
CC Q8N9W6-4; Q03989: ARID5A; NbExp=3; IntAct=EBI-11983447, EBI-948603;
CC Q8N9W6-4; Q8WWM7-9: ATXN2L; NbExp=3; IntAct=EBI-11983447, EBI-12053753;
CC Q8N9W6-4; Q6P1W5: C1orf94; NbExp=3; IntAct=EBI-11983447, EBI-946029;
CC Q8N9W6-4; Q96LM5: C4orf45; NbExp=3; IntAct=EBI-11983447, EBI-12020542;
CC Q8N9W6-4; Q14781-2: CBX2; NbExp=3; IntAct=EBI-11983447, EBI-11974585;
CC Q8N9W6-4; Q8TF63: DCANP1; NbExp=3; IntAct=EBI-11983447, EBI-10275670;
CC Q8N9W6-4; Q08426: EHHADH; NbExp=3; IntAct=EBI-11983447, EBI-2339219;
CC Q8N9W6-4; Q92567-2: FAM168A; NbExp=3; IntAct=EBI-11983447, EBI-11978259;
CC Q8N9W6-4; Q9NU39: FOXD4L1; NbExp=3; IntAct=EBI-11983447, EBI-11320806;
CC Q8N9W6-4; A0A024R5S0: hCG_2003792; NbExp=3; IntAct=EBI-11983447, EBI-10188461;
CC Q8N9W6-4; O43820: HYAL3; NbExp=3; IntAct=EBI-11983447, EBI-3913399;
CC Q8N9W6-4; Q9C086: INO80B; NbExp=3; IntAct=EBI-11983447, EBI-715611;
CC Q8N9W6-4; Q7Z4W3: KRTAP19-3; NbExp=3; IntAct=EBI-11983447, EBI-12020132;
CC Q8N9W6-4; Q14847-2: LASP1; NbExp=3; IntAct=EBI-11983447, EBI-9088686;
CC Q8N9W6-4; Q8IVT2: MISP; NbExp=3; IntAct=EBI-11983447, EBI-2555085;
CC Q8N9W6-4; Q96HR8: NAF1; NbExp=3; IntAct=EBI-11983447, EBI-2515597;
CC Q8N9W6-4; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-11983447, EBI-11022007;
CC Q8N9W6-4; O43189: PHF1; NbExp=3; IntAct=EBI-11983447, EBI-530034;
CC Q8N9W6-4; Q7Z3K3: POGZ; NbExp=3; IntAct=EBI-11983447, EBI-1389308;
CC Q8N9W6-4; Q96HA1-2: POM121; NbExp=3; IntAct=EBI-11983447, EBI-11956563;
CC Q8N9W6-4; Q9NV39: PRR34; NbExp=3; IntAct=EBI-11983447, EBI-11959565;
CC Q8N9W6-4; O43251-10: RBFOX2; NbExp=3; IntAct=EBI-11983447, EBI-11963050;
CC Q8N9W6-4; Q6ZRY4: RBPMS2; NbExp=3; IntAct=EBI-11983447, EBI-11987469;
CC Q8N9W6-4; Q9BQY4: RHOXF2; NbExp=3; IntAct=EBI-11983447, EBI-372094;
CC Q8N9W6-4; Q13214-2: SEMA3B; NbExp=3; IntAct=EBI-11983447, EBI-11017428;
CC Q8N9W6-4; P09234: SNRPC; NbExp=3; IntAct=EBI-11983447, EBI-766589;
CC Q8N9W6-4; Q15560: TCEA2; NbExp=3; IntAct=EBI-11983447, EBI-710310;
CC Q8N9W6-4; Q92734: TFG; NbExp=3; IntAct=EBI-11983447, EBI-357061;
CC Q8N9W6-4; A0A0C4DGF1: ZBTB32; NbExp=3; IntAct=EBI-11983447, EBI-10188476;
CC Q8N9W6-4; Q96K80: ZC3H10; NbExp=3; IntAct=EBI-11983447, EBI-742550;
CC Q8N9W6-4; Q66K41-2: ZNF385C; NbExp=3; IntAct=EBI-11983447, EBI-12055653;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11390979,
CC ECO:0000269|PubMed:17114206}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1; Synonyms=BOULE2;
CC IsoId=Q8N9W6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9W6-2; Sequence=VSP_009444, VSP_009445, VSP_009446;
CC Name=3; Synonyms=BOULE1;
CC IsoId=Q8N9W6-3; Sequence=VSP_036805;
CC Name=4; Synonyms=BOULE3;
CC IsoId=Q8N9W6-4; Sequence=VSP_009444;
CC Name=5;
CC IsoId=Q8N9W6-5; Sequence=VSP_055382, VSP_055383;
CC -!- TISSUE SPECIFICITY: Testis specific. Not expressed in early embryos,
CC primordial germ cells and spermatogonial cells. First expressed in the
CC cytoplasm of spermatocytes and then persists through meiosis.
CC {ECO:0000269|PubMed:11390979, ECO:0000269|PubMed:17114206}.
CC -!- SIMILARITY: Belongs to the RRM DAZ family. {ECO:0000255|PROSITE-
CC ProRule:PRU01238}.
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DR EMBL; AF272858; AAK58689.1; -; mRNA.
DR EMBL; AM295005; CAL25726.1; -; mRNA.
DR EMBL; AK058099; BAB71664.1; -; mRNA.
DR EMBL; AK093453; BAC04171.1; -; mRNA.
DR EMBL; AK097795; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK302817; BAG64016.1; -; mRNA.
DR EMBL; AC011997; AAX93045.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70172.1; -; Genomic_DNA.
DR EMBL; BC033674; AAH33674.1; -; mRNA.
DR CCDS; CCDS2324.1; -. [Q8N9W6-3]
DR CCDS; CCDS2325.1; -. [Q8N9W6-1]
DR CCDS; CCDS63081.1; -. [Q8N9W6-5]
DR RefSeq; NP_001271287.1; NM_001284358.1. [Q8N9W6-5]
DR RefSeq; NP_001271290.1; NM_001284361.1. [Q8N9W6-2]
DR RefSeq; NP_001271291.1; NM_001284362.1. [Q8N9W6-4]
DR RefSeq; NP_149019.1; NM_033030.5. [Q8N9W6-1]
DR RefSeq; NP_932074.1; NM_197970.2. [Q8N9W6-3]
DR AlphaFoldDB; Q8N9W6; -.
DR SMR; Q8N9W6; -.
DR BioGRID; 122456; 42.
DR IntAct; Q8N9W6; 44.
DR STRING; 9606.ENSP00000314792; -.
DR iPTMnet; Q8N9W6; -.
DR PhosphoSitePlus; Q8N9W6; -.
DR BioMuta; BOLL; -.
DR DMDM; 44887719; -.
DR MassIVE; Q8N9W6; -.
DR PaxDb; Q8N9W6; -.
DR PeptideAtlas; Q8N9W6; -.
DR PRIDE; Q8N9W6; -.
DR ProteomicsDB; 72599; -. [Q8N9W6-1]
DR ProteomicsDB; 72600; -. [Q8N9W6-2]
DR ProteomicsDB; 72601; -. [Q8N9W6-3]
DR ProteomicsDB; 72602; -. [Q8N9W6-4]
DR Antibodypedia; 19911; 478 antibodies from 30 providers.
DR DNASU; 66037; -.
DR Ensembl; ENST00000282278.12; ENSP00000282278.8; ENSG00000152430.18. [Q8N9W6-5]
DR Ensembl; ENST00000321801.11; ENSP00000314792.7; ENSG00000152430.18. [Q8N9W6-3]
DR Ensembl; ENST00000392296.9; ENSP00000376116.4; ENSG00000152430.18. [Q8N9W6-1]
DR Ensembl; ENST00000433157.1; ENSP00000396099.1; ENSG00000152430.18. [Q8N9W6-1]
DR GeneID; 66037; -.
DR KEGG; hsa:66037; -.
DR MANE-Select; ENST00000392296.9; ENSP00000376116.4; NM_033030.6; NP_149019.1.
DR UCSC; uc002uus.2; human. [Q8N9W6-1]
DR CTD; 66037; -.
DR DisGeNET; 66037; -.
DR GeneCards; BOLL; -.
DR HGNC; HGNC:14273; BOLL.
DR HPA; ENSG00000152430; Tissue enriched (testis).
DR MIM; 606165; gene.
DR neXtProt; NX_Q8N9W6; -.
DR OpenTargets; ENSG00000152430; -.
DR PharmGKB; PA25397; -.
DR VEuPathDB; HostDB:ENSG00000152430; -.
DR eggNOG; KOG0118; Eukaryota.
DR GeneTree; ENSGT00530000063480; -.
DR HOGENOM; CLU_077156_1_0_1; -.
DR InParanoid; Q8N9W6; -.
DR OMA; MSCGTFY; -.
DR OrthoDB; 1610446at2759; -.
DR PhylomeDB; Q8N9W6; -.
DR TreeFam; TF324396; -.
DR PathwayCommons; Q8N9W6; -.
DR SignaLink; Q8N9W6; -.
DR BioGRID-ORCS; 66037; 16 hits in 1068 CRISPR screens.
DR ChiTaRS; BOLL; human.
DR GeneWiki; BOLL; -.
DR GenomeRNAi; 66037; -.
DR Pharos; Q8N9W6; Tbio.
DR PRO; PR:Q8N9W6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N9W6; protein.
DR Bgee; ENSG00000152430; Expressed in left testis and 69 other tissues.
DR ExpressionAtlas; Q8N9W6; baseline and differential.
DR Genevisible; Q8N9W6; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:MGI.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0003730; F:mRNA 3'-UTR binding; IBA:GO_Central.
DR GO; GO:0008494; F:translation activator activity; IDA:UniProtKB.
DR GO; GO:0070935; P:3'-UTR-mediated mRNA stabilization; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0051321; P:meiotic cell cycle; IDA:MGI.
DR GO; GO:0045948; P:positive regulation of translational initiation; IDA:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR Gene3D; 3.30.70.330; -; 1.
DR InterPro; IPR037366; BOULE/DAZ.
DR InterPro; IPR043628; DAZ_dom.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR PANTHER; PTHR11176; PTHR11176; 1.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 1.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS51890; DAZ; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW Reference proteome; RNA-binding; Spermatogenesis; Translation regulation.
FT CHAIN 1..283
FT /note="Protein boule-like"
FT /id="PRO_0000081494"
FT DOMAIN 33..110
FT /note="RRM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 160..184
FT /note="DAZ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01238"
FT REGION 1..25
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..9
FT /note="MQTDSLSPS -> MTELEYPKG (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055382"
FT VAR_SEQ 1
FT /note="M -> MQTSNQM (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17114206"
FT /id="VSP_009444"
FT VAR_SEQ 1
FT /note="M -> METESGPQTSNQM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17114206"
FT /id="VSP_036805"
FT VAR_SEQ 10..118
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055383"
FT VAR_SEQ 184
FT /note="Q -> QGIKQCHTRRWMDSLLPFTKCDE (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009445"
FT VAR_SEQ 277..283
FT /note="TVWSIHY -> CGAFIIKTIGQLYSSSTDFLSNDPCVAEIQLQRTS (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_009446"
FT CONFLICT 164
FT /note="V -> A (in Ref. 3; BAC04171)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 283 AA; 31301 MW; 7E28E99C116DAA16 CRC64;
MQTDSLSPSP NPVSPVPLNN PTSAPRYGTV IPNRIFVGGI DFKTNESDLR KFFSQYGSVK
EVKIVNDRAG VSKGYGFVTF ETQEDAQKIL QEAEKLNYKD KKLNIGPAIR KQQVGIPRSS
IMPAAGTMYL TTSTGYPYTY HNGVAYFHTP EVTSVPPPWP SRSVCSSPVM VAQPIYQQPA
YHYQATTQYL PGQWQWSVPQ PSASSAPFLY LQPSEVIYQP VEIAQDGGCV PPPLSLMETS
VPEPYSDHGV QATYHQVYAP SAITMPAPVM QPEPIKTVWS IHY
