Q8N9W6 (BOLL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein boule-like

Gene names

Name:	BOLL
Synonyms:	BOULE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	283 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation Spermatogenesis Translation regulation
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Ligand	RNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW meiosis Inferred from direct assay PubMed 12499397. Source: MGI multicellular organismal development Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of translational initiation Inferred from direct assay PubMed 16001084. Source: UniProtKB spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay Ref.1. Source: MGI
Molecular_function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW nucleotide binding Inferred from electronic annotation. Source: InterPro translation activator activity Inferred from direct assay PubMed 16001084. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 283	283	Protein boule-like		PRO_0000081494
Regions
	Domain	33 – 110	78	RRM
	Domain	164 – 194	31	DAZ-like
Natural variations
	Alternative sequence	1	1	M → MQTSNQM in isoform 2 and isoform 4.		VSP_009444
	Alternative sequence	1	1	M → METESGPQTSNQM in isoform 3.		VSP_036805
	Alternative sequence	184	1	Q → QGIKQCHTRRWMDSLLPFTK CDE in isoform 2.		VSP_009445
	Alternative sequence	277 – 283	7	TVWSIHY → CGAFIIKTIGQLYSSSTDFL SNDPCVAEIQLQRTS in isoform 2.		VSP_009446
Experimental info
	Sequence conflict	164	1	V → A in BAC04171. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (BOULE2) [UniParc]. Last modified March 1, 2004. Version 2. Checksum: 7E28E99C116DAA16	FASTA	283	31,301
	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
	Isoform 2 [UniParc]. Checksum: 0950CA3F649997E2	FASTA	339	37,541
	10 20 30 40 50 60 MQTSNQMQTD SLSPSPNPVS PVPLNNPTSA PRYGTVIPNR IFVGGIDFKT NESDLRKFFS 70 80 90 100 110 120 QYGSVKEVKI VNDRAGVSKG YGFVTFETQE DAQKILQEAE KLNYKDKKLN IGPAIRKQQV 130 140 150 160 170 180 GIPRSSIMPA AGTMYLTTST GYPYTYHNGV AYFHTPEVTS VPPPWPSRSV CSSPVMVAQP 190 200 210 220 230 240 IYQQPAYHYQ GIKQCHTRRW MDSLLPFTKC DEATTQYLPG QWQWSVPQPS ASSAPFLYLQ 250 260 270 280 290 300 PSEVIYQPVE IAQDGGCVPP PLSLMETSVP EPYSDHGVQA TYHQVYAPSA ITMPAPVMQP 310 320 330 EPIKCGAFII KTIGQLYSSS TDFLSNDPCV AEIQLQRTS
	Isoform 3 (BOULE1) [UniParc]. Checksum: 360456CB75934D45	FASTA	295	32,592
	10 20 30 40 50 60 METESGPQTS NQMQTDSLSP SPNPVSPVPL NNPTSAPRYG TVIPNRIFVG GIDFKTNESD 70 80 90 100 110 120 LRKFFSQYGS VKEVKIVNDR AGVSKGYGFV TFETQEDAQK ILQEAEKLNY KDKKLNIGPA 130 140 150 160 170 180 IRKQQVGIPR SSIMPAAGTM YLTTSTGYPY TYHNGVAYFH TPEVTSVPPP WPSRSVCSSP 190 200 210 220 230 240 VMVAQPIYQQ PAYHYQATTQ YLPGQWQWSV PQPSASSAPF LYLQPSEVIY QPVEIAQDGG 250 260 270 280 290 CVPPPLSLME TSVPEPYSDH GVQATYHQVY APSAITMPAP VMQPEPIKTV WSIHY
	Isoform 4 (BOULE3) [UniParc]. Checksum: C759FF05532FE415	FASTA	289	31,991
	10 20 30 40 50 60 MQTSNQMQTD SLSPSPNPVS PVPLNNPTSA PRYGTVIPNR IFVGGIDFKT NESDLRKFFS 70 80 90 100 110 120 QYGSVKEVKI VNDRAGVSKG YGFVTFETQE DAQKILQEAE KLNYKDKKLN IGPAIRKQQV 130 140 150 160 170 180 GIPRSSIMPA AGTMYLTTST GYPYTYHNGV AYFHTPEVTS VPPPWPSRSV CSSPVMVAQP 190 200 210 220 230 240 IYQQPAYHYQ ATTQYLPGQW QWSVPQPSAS SAPFLYLQPS EVIYQPVEIA QDGGCVPPPL 250 260 270 280 SLMETSVPEP YSDHGVQATY HQVYAPSAIT MPAPVMQPEP IKTVWSIHY

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00056506. IPI00377133. IPI00396276. IPI00871244.
RefSeq	NP_149019.1. NM_033030.5. NP_932074.1. NM_197970.2.
UniGene	Hs.169797.
3D structure databases
ProteinModelPortal	Q8N9W6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N9W6. 1 interaction.
STRING	9606.ENSP00000314792.
PTM databases
PhosphoSite	Q8N9W6.
Polymorphism databases
DMDM	44887719.
Proteomic databases
PaxDb	Q8N9W6.
PRIDE	Q8N9W6.
Protocols and materials databases
DNASU	66037.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321801; ENSP00000314792; ENSG00000152430. ENST00000392296; ENSP00000376116; ENSG00000152430. ENST00000433157; ENSP00000396099; ENSG00000152430.
GeneID	66037.
KEGG	hsa:66037.
UCSC	uc002uur.2. human. uc002uus.2. human. uc002uut.2. human. uc002uuu.1. human.
Organism-specific databases
CTD	66037.
GeneCards	GC02M198591.
H-InvDB	HIX0030239.
HGNC	HGNC:14273. BOLL.
HPA	HPA018678.
MIM	606165. gene.
neXtProt	NX_Q8N9W6.
PharmGKB	PA25397.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG260394.
HOGENOM	HOG000095250.
HOVERGEN	HBG048761.
OrthoDB	EOG4MPHQQ.
Gene expression databases
ArrayExpress	Q8N9W6.
Bgee	Q8N9W6.
CleanEx	HS_BOLL.
Genevestigator	Q8N9W6.
GermOnline	ENSG00000152430. Homo sapiens.
Family and domain databases
Gene3D	3.30.70.330. 1 hit.
InterPro	IPR012677. Nucleotide-bd_a/b_plait. IPR000504. RRM_dom. [Graphical view]
Pfam	PF00076. RRM_1. 1 hit. [Graphical view]
SMART	SM00360. RRM. 1 hit. [Graphical view]
PROSITE	PS50102. RRM. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	66037.
NextBio	67546.
SOURCE	Search...

Entry information

Entry name

BOLL_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 93 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.