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Q8N9W6

- BOLL_HUMAN

UniProt

Q8N9W6 - BOLL_HUMAN

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Protein

Protein boule-like

Gene
BOLL, BOULE
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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
Complete GO annotation...

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
Complete GO annotation...

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the RRM DAZ family.
Contains 1 DAZ-like domain.

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 99MQTDSLSPS → MTELEYPKG in isoform 5. VSP_055382
Alternative sequencei1 – 11M → MQTSNQM in isoform 2 and isoform 4. VSP_009444
Alternative sequencei1 – 11M → METESGPQTSNQM in isoform 3. VSP_036805
Alternative sequencei10 – 118109Missing in isoform 5. VSP_055383Add
BLAST
Alternative sequencei184 – 1841Q → QGIKQCHTRRWMDSLLPFTK CDE in isoform 2. VSP_009445
Alternative sequencei277 – 2837TVWSIHY → CGAFIIKTIGQLYSSSTDFL SNDPCVAEIQLQRTS in isoform 2. VSP_009446

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti164 – 1641V → A in BAC04171. 1 Publication

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]
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.
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 ]
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 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 105 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

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