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Q8N9W6 (BOLL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein boule-like
Gene names
Name:BOLL
Synonyms:BOULE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length283 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with DAZ1 and DAZL. Ref.1

Subcellular location

Cytoplasm Ref.1 Ref.2.

Tissue specificity

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. Ref.1 Ref.2

Sequence similarities

Belongs to the RRM DAZ family.

Contains 1 DAZ-like domain.

Contains 1 RRM (RNA recognition motif) domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N9W6-1)

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.
Isoform 2 (identifier: Q8N9W6-2)

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.
Isoform 3 (identifier: Q8N9W6-3)

Also known as: BOULE1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → METESGPQTSNQM
Isoform 4 (identifier: Q8N9W6-4)

Also known as: BOULE3;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 283283Protein boule-like
PRO_0000081494

Regions

Domain33 – 11078RRM
Domain164 – 19431DAZ-like

Natural variations

Alternative sequence11M → MQTSNQM in isoform 2 and isoform 4.
VSP_009444
Alternative sequence11M → METESGPQTSNQM in isoform 3.
VSP_036805
Alternative sequence1841Q → QGIKQCHTRRWMDSLLPFTK CDE in isoform 2.
VSP_009445
Alternative sequence277 – 2837TVWSIHY → CGAFIIKTIGQLYSSSTDFL SNDPCVAEIQLQRTS in isoform 2.
VSP_009446

Experimental info

Sequence conflict1641V → A in BAC04171. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (BOULE2) [UniParc].

Last modified March 1, 2004. Version 2.
Checksum: 7E28E99C116DAA16

FASTA28331,301
        10         20         30         40         50         60 
MQTDSLSPSP NPVSPVPLNN PTSAPRYGTV IPNRIFVGGI DFKTNESDLR KFFSQYGSVK 

        70         80         90        100        110        120 
EVKIVNDRAG VSKGYGFVTF ETQEDAQKIL QEAEKLNYKD KKLNIGPAIR KQQVGIPRSS 

       130        140        150        160        170        180 
IMPAAGTMYL TTSTGYPYTY HNGVAYFHTP EVTSVPPPWP SRSVCSSPVM VAQPIYQQPA 

       190        200        210        220        230        240 
YHYQATTQYL PGQWQWSVPQ PSASSAPFLY LQPSEVIYQP VEIAQDGGCV PPPLSLMETS 

       250        260        270        280 
VPEPYSDHGV QATYHQVYAP SAITMPAPVM QPEPIKTVWS IHY 

« Hide

Isoform 2 [UniParc].

Checksum: 0950CA3F649997E2
Show »

FASTA33937,541
Isoform 3 (BOULE1) [UniParc].

Checksum: 360456CB75934D45
Show »

FASTA29532,592
Isoform 4 (BOULE3) [UniParc].

Checksum: C759FF05532FE415
Show »

FASTA28931,991

References

« Hide 'large scale' references
[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. expand/collapse author list , 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 AND 3).
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
AC011997 Genomic DNA. Translation: AAX93045.1.
CH471063 Genomic DNA. Translation: EAW70172.1.
BC033674 mRNA. Translation: AAH33674.1.
RefSeqNP_001271290.1. NM_001284361.1.
NP_001271291.1. NM_001284362.1.
NP_149019.1. NM_033030.5.
NP_932074.1. NM_197970.2.
UniGeneHs.169797.

3D structure databases

ProteinModelPortalQ8N9W6.
SMRQ8N9W6. Positions 28-112.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122456. 1 interaction.
IntActQ8N9W6. 1 interaction.
STRING9606.ENSP00000314792.

PTM databases

PhosphoSiteQ8N9W6.

Polymorphism databases

DMDM44887719.

Proteomic databases

PaxDbQ8N9W6.
PRIDEQ8N9W6.

Protocols and materials databases

DNASU66037.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000321801; ENSP00000314792; ENSG00000152430. [Q8N9W6-3]
ENST00000392296; ENSP00000376116; ENSG00000152430. [Q8N9W6-1]
ENST00000433157; ENSP00000396099; ENSG00000152430. [Q8N9W6-1]
GeneID66037.
KEGGhsa:66037.
UCSCuc002uur.2. human. [Q8N9W6-4]
uc002uus.2. human. [Q8N9W6-1]
uc002uut.2. human. [Q8N9W6-3]
uc002uuu.1. human. [Q8N9W6-2]

Organism-specific databases

CTD66037.
GeneCardsGC02M198591.
H-InvDBHIX0030239.
HGNCHGNC:14273. BOLL.
HPAHPA018678.
HPA048813.
MIM606165. gene.
neXtProtNX_Q8N9W6.
PharmGKBPA25397.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG260394.
HOGENOMHOG000095250.
HOVERGENHBG048761.
PhylomeDBQ8N9W6.
TreeFamTF324396.

Gene expression databases

BgeeQ8N9W6.
CleanExHS_BOLL.
GenevestigatorQ8N9W6.

Family and domain databases

Gene3D3.30.70.330. 1 hit.
InterProIPR012677. Nucleotide-bd_a/b_plait.
IPR000504. RRM_dom.
[Graphical view]
PfamPF00076. RRM_1. 1 hit.
[Graphical view]
SMARTSM00360. RRM. 1 hit.
[Graphical view]
PROSITEPS50102. RRM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiBOLL.
GenomeRNAi66037.
NextBio67546.
PROQ8N9W6.
SOURCESearch...

Entry information

Entry nameBOLL_HUMAN
AccessionPrimary (citable) accession number: Q8N9W6
Secondary accession number(s): Q0JW32, Q53T62, Q969U3
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: April 16, 2014
This is version 101 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM