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Q8N9W6

- BOLL_HUMAN

UniProt

Q8N9W6 - BOLL_HUMAN

Protein

Protein boule-like

Gene

BOLL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 2 (01 Mar 2004)
      Previous versions | rss
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    Functioni

    Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR of mRNAs and regulating their translation By similarity.By similarity

    GO - Molecular functioni

    1. nucleotide binding Source: InterPro
    2. protein binding Source: UniProtKB
    3. RNA binding Source: UniProtKB-KW
    4. translation activator activity Source: UniProtKB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. meiotic nuclear division Source: MGI
    3. multicellular organismal development Source: UniProtKB-KW
    4. positive regulation of translational initiation Source: UniProtKB
    5. spermatogenesis Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Spermatogenesis, Translation regulation

    Keywords - Ligandi

    RNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein boule-like
    Gene namesi
    Name:BOLL
    Synonyms:BOULE
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:14273. BOLL.

    Subcellular locationi

    Cytoplasm 2 Publications

    GO - Cellular componenti

    1. cytoplasm Source: MGI

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25397.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 283283Protein boule-likePRO_0000081494Add
    BLAST

    Proteomic databases

    PaxDbiQ8N9W6.
    PRIDEiQ8N9W6.

    PTM databases

    PhosphoSiteiQ8N9W6.

    Expressioni

    Tissue specificityi

    Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells. First expressed in the cytoplasm of spermatocytes and then persists through meiosis.2 Publications

    Gene expression databases

    BgeeiQ8N9W6.
    CleanExiHS_BOLL.
    GenevestigatoriQ8N9W6.

    Organism-specific databases

    HPAiHPA018678.
    HPA048813.

    Interactioni

    Subunit structurei

    Interacts with DAZ1 and DAZL.1 Publication

    Protein-protein interaction databases

    BioGridi122456. 1 interaction.
    IntActiQ8N9W6. 1 interaction.
    STRINGi9606.ENSP00000314792.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N9W6.
    SMRiQ8N9W6. Positions 28-112.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini33 – 11078RRMPROSITE-ProRule annotationAdd
    BLAST
    Domaini164 – 19431DAZ-likeAdd
    BLAST

    Sequence similaritiesi

    Belongs to the RRM DAZ family.Curated
    Contains 1 DAZ-like domain.Curated
    Contains 1 RRM (RNA recognition motif) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG260394.
    HOGENOMiHOG000095250.
    HOVERGENiHBG048761.
    PhylomeDBiQ8N9W6.
    TreeFamiTF324396.

    Family and domain databases

    Gene3Di3.30.70.330. 1 hit.
    InterProiIPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view]
    PfamiPF00076. RRM_1. 1 hit.
    [Graphical view]
    SMARTiSM00360. RRM. 1 hit.
    [Graphical view]
    PROSITEiPS50102. RRM. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N9W6-1) [UniParc]FASTAAdd to Basket

    Also known as: BOULE2

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQTDSLSPSP NPVSPVPLNN PTSAPRYGTV IPNRIFVGGI DFKTNESDLR    50
    KFFSQYGSVK EVKIVNDRAG VSKGYGFVTF ETQEDAQKIL QEAEKLNYKD 100
    KKLNIGPAIR KQQVGIPRSS IMPAAGTMYL TTSTGYPYTY HNGVAYFHTP 150
    EVTSVPPPWP SRSVCSSPVM VAQPIYQQPA YHYQATTQYL PGQWQWSVPQ 200
    PSASSAPFLY LQPSEVIYQP VEIAQDGGCV PPPLSLMETS VPEPYSDHGV 250
    QATYHQVYAP SAITMPAPVM QPEPIKTVWS IHY 283
    Length:283
    Mass (Da):31,301
    Last modified:March 1, 2004 - v2
    Checksum:i7E28E99C116DAA16
    GO
    Isoform 2 (identifier: Q8N9W6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MQTSNQM
         184-184: Q → QGIKQCHTRRWMDSLLPFTKCDE
         277-283: TVWSIHY → CGAFIIKTIGQLYSSSTDFLSNDPCVAEIQLQRTS

    Note: No experimental confirmation available.

    Show »
    Length:339
    Mass (Da):37,541
    Checksum:i0950CA3F649997E2
    GO
    Isoform 3 (identifier: Q8N9W6-3) [UniParc]FASTAAdd to Basket

    Also known as: BOULE1

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → METESGPQTSNQM

    Show »
    Length:295
    Mass (Da):32,592
    Checksum:i360456CB75934D45
    GO
    Isoform 4 (identifier: Q8N9W6-4) [UniParc]FASTAAdd to Basket

    Also known as: BOULE3

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1: M → MQTSNQM

    Show »
    Length:289
    Mass (Da):31,991
    Checksum:iC759FF05532FE415
    GO
    Isoform 5 (identifier: Q8N9W6-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MQTDSLSPS → MTELEYPKG
         10-118: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:174
    Mass (Da):19,256
    Checksum:iEC6F3B84DD2946D6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti164 – 1641V → A in BAC04171. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 99MQTDSLSPS → MTELEYPKG in isoform 5. 1 PublicationVSP_055382
    Alternative sequencei1 – 11M → MQTSNQM in isoform 2 and isoform 4. 2 PublicationsVSP_009444
    Alternative sequencei1 – 11M → METESGPQTSNQM in isoform 3. 2 PublicationsVSP_036805
    Alternative sequencei10 – 118109Missing in isoform 5. 1 PublicationVSP_055383Add
    BLAST
    Alternative sequencei184 – 1841Q → QGIKQCHTRRWMDSLLPFTK CDE in isoform 2. 1 PublicationVSP_009445
    Alternative sequencei277 – 2837TVWSIHY → CGAFIIKTIGQLYSSSTDFL SNDPCVAEIQLQRTS in isoform 2. 1 PublicationVSP_009446

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF272858 mRNA. Translation: AAK58689.1.
    AM295005 mRNA. Translation: CAL25726.1.
    AK058099 mRNA. Translation: BAB71664.1.
    AK093453 mRNA. Translation: BAC04171.1.
    AK097795 mRNA. No translation available.
    AK302817 mRNA. Translation: BAG64016.1.
    AC011997 Genomic DNA. Translation: AAX93045.1.
    CH471063 Genomic DNA. Translation: EAW70172.1.
    BC033674 mRNA. Translation: AAH33674.1.
    CCDSiCCDS2324.1. [Q8N9W6-3]
    CCDS2325.1. [Q8N9W6-1]
    CCDS63081.1. [Q8N9W6-5]
    RefSeqiNP_001271287.1. NM_001284358.1.
    NP_001271290.1. NM_001284361.1. [Q8N9W6-2]
    NP_001271291.1. NM_001284362.1. [Q8N9W6-4]
    NP_149019.1. NM_033030.5. [Q8N9W6-1]
    NP_932074.1. NM_197970.2. [Q8N9W6-3]
    UniGeneiHs.169797.

    Genome annotation databases

    EnsembliENST00000282278; ENSP00000282278; ENSG00000152430. [Q8N9W6-5]
    ENST00000321801; ENSP00000314792; ENSG00000152430. [Q8N9W6-3]
    ENST00000392296; ENSP00000376116; ENSG00000152430. [Q8N9W6-1]
    ENST00000433157; ENSP00000396099; ENSG00000152430. [Q8N9W6-1]
    GeneIDi66037.
    KEGGihsa:66037.
    UCSCiuc002uur.2. human. [Q8N9W6-4]
    uc002uus.2. human. [Q8N9W6-1]
    uc002uut.2. human. [Q8N9W6-3]
    uc002uuu.1. human. [Q8N9W6-2]

    Polymorphism databases

    DMDMi44887719.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF272858 mRNA. Translation: AAK58689.1 .
    AM295005 mRNA. Translation: CAL25726.1 .
    AK058099 mRNA. Translation: BAB71664.1 .
    AK093453 mRNA. Translation: BAC04171.1 .
    AK097795 mRNA. No translation available.
    AK302817 mRNA. Translation: BAG64016.1 .
    AC011997 Genomic DNA. Translation: AAX93045.1 .
    CH471063 Genomic DNA. Translation: EAW70172.1 .
    BC033674 mRNA. Translation: AAH33674.1 .
    CCDSi CCDS2324.1. [Q8N9W6-3 ]
    CCDS2325.1. [Q8N9W6-1 ]
    CCDS63081.1. [Q8N9W6-5 ]
    RefSeqi NP_001271287.1. NM_001284358.1.
    NP_001271290.1. NM_001284361.1. [Q8N9W6-2 ]
    NP_001271291.1. NM_001284362.1. [Q8N9W6-4 ]
    NP_149019.1. NM_033030.5. [Q8N9W6-1 ]
    NP_932074.1. NM_197970.2. [Q8N9W6-3 ]
    UniGenei Hs.169797.

    3D structure databases

    ProteinModelPortali Q8N9W6.
    SMRi Q8N9W6. Positions 28-112.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122456. 1 interaction.
    IntActi Q8N9W6. 1 interaction.
    STRINGi 9606.ENSP00000314792.

    PTM databases

    PhosphoSitei Q8N9W6.

    Polymorphism databases

    DMDMi 44887719.

    Proteomic databases

    PaxDbi Q8N9W6.
    PRIDEi Q8N9W6.

    Protocols and materials databases

    DNASUi 66037.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282278 ; ENSP00000282278 ; ENSG00000152430 . [Q8N9W6-5 ]
    ENST00000321801 ; ENSP00000314792 ; ENSG00000152430 . [Q8N9W6-3 ]
    ENST00000392296 ; ENSP00000376116 ; ENSG00000152430 . [Q8N9W6-1 ]
    ENST00000433157 ; ENSP00000396099 ; ENSG00000152430 . [Q8N9W6-1 ]
    GeneIDi 66037.
    KEGGi hsa:66037.
    UCSCi uc002uur.2. human. [Q8N9W6-4 ]
    uc002uus.2. human. [Q8N9W6-1 ]
    uc002uut.2. human. [Q8N9W6-3 ]
    uc002uuu.1. human. [Q8N9W6-2 ]

    Organism-specific databases

    CTDi 66037.
    GeneCardsi GC02M198591.
    H-InvDB HIX0030239.
    HGNCi HGNC:14273. BOLL.
    HPAi HPA018678.
    HPA048813.
    MIMi 606165. gene.
    neXtProti NX_Q8N9W6.
    PharmGKBi PA25397.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG260394.
    HOGENOMi HOG000095250.
    HOVERGENi HBG048761.
    PhylomeDBi Q8N9W6.
    TreeFami TF324396.

    Miscellaneous databases

    GeneWikii BOLL.
    GenomeRNAii 66037.
    NextBioi 35476431.
    PROi Q8N9W6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8N9W6.
    CleanExi HS_BOLL.
    Genevestigatori Q8N9W6.

    Family and domain databases

    Gene3Di 3.30.70.330. 1 hit.
    InterProi IPR012677. Nucleotide-bd_a/b_plait.
    IPR000504. RRM_dom.
    [Graphical view ]
    Pfami PF00076. RRM_1. 1 hit.
    [Graphical view ]
    SMARTi SM00360. RRM. 1 hit.
    [Graphical view ]
    PROSITEi PS50102. RRM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans."
      Xu E.Y., Moore F.L., Reijo Pera R.A.
      Proc. Natl. Acad. Sci. U.S.A. 98:7414-7419(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH DAZ1 AND DAZL.
    2. "Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men."
      Kostova E., Yeung C.H., Luetjens C.M., Brune M., Nieschlag E., Gromoll J.
      Mol. Hum. Reprod. 13:85-93(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3 AND 4), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Testis.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 5).
      Tissue: Testis.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.

    Entry informationi

    Entry nameiBOLL_HUMAN
    AccessioniPrimary (citable) accession number: Q8N9W6
    Secondary accession number(s): B4DZA4
    , Q0JW32, Q53T62, Q969U3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 1, 2004
    Last sequence update: March 1, 2004
    Last modified: October 1, 2014
    This is version 106 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3