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Protein

Protein boule-like

Gene

BOLL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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).By similarity

GO - Molecular functioni

  • mRNA 3'-UTR binding Source: GO_Central
  • translation activator activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, Spermatogenesis, Translation regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Protein boule-like
Gene namesi
Name:BOLL
Synonyms:BOULE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:14273. BOLL.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: MGI

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi66037.
OpenTargetsiENSG00000152430.
PharmGKBiPA25397.

Polymorphism and mutation databases

BioMutaiBOLL.
DMDMi44887719.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000814941 – 283Protein boule-likeAdd BLAST283

Proteomic databases

PaxDbiQ8N9W6.
PeptideAtlasiQ8N9W6.
PRIDEiQ8N9W6.

PTM databases

iPTMnetiQ8N9W6.
PhosphoSitePlusiQ8N9W6.

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

BgeeiENSG00000152430.
CleanExiHS_BOLL.
ExpressionAtlasiQ8N9W6. baseline and differential.
GenevisibleiQ8N9W6. HS.

Organism-specific databases

HPAiHPA018678.
HPA048813.

Interactioni

Subunit structurei

Interacts with DAZ1 and DAZL.1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi122456. 12 interactors.
IntActiQ8N9W6. 38 interactors.
STRINGi9606.ENSP00000314792.

Structurei

3D structure databases

ProteinModelPortaliQ8N9W6.
SMRiQ8N9W6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini33 – 110RRMPROSITE-ProRule annotationAdd BLAST78
Domaini164 – 194DAZ-likeAdd BLAST31

Sequence similaritiesi

Belongs to the RRM DAZ family.Curated

Phylogenomic databases

eggNOGiKOG0118. Eukaryota.
COG0724. LUCA.
GeneTreeiENSGT00530000063480.
HOGENOMiHOG000095250.
HOVERGENiHBG048761.
InParanoidiQ8N9W6.
PhylomeDBiQ8N9W6.
TreeFamiTF324396.

Family and domain databases

InterProiView protein in InterPro
IPR000504. RRM_dom.
PfamiView protein in Pfam
PF00076. RRM_1. 1 hit.
SMARTiView protein in SMART
SM00360. RRM. 1 hit.
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiView protein in PROSITE
PS50102. RRM. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

        10         20         30         40         50
MQTDSLSPSP NPVSPVPLNN PTSAPRYGTV IPNRIFVGGI DFKTNESDLR
60 70 80 90 100
KFFSQYGSVK EVKIVNDRAG VSKGYGFVTF ETQEDAQKIL QEAEKLNYKD
110 120 130 140 150
KKLNIGPAIR KQQVGIPRSS IMPAAGTMYL TTSTGYPYTY HNGVAYFHTP
160 170 180 190 200
EVTSVPPPWP SRSVCSSPVM VAQPIYQQPA YHYQATTQYL PGQWQWSVPQ
210 220 230 240 250
PSASSAPFLY LQPSEVIYQP VEIAQDGGCV PPPLSLMETS VPEPYSDHGV
260 270 280
QATYHQVYAP SAITMPAPVM QPEPIKTVWS IHY
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)DescriptionActionsGraphical viewLength
Sequence conflicti164V → A in BAC04171 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0553821 – 9MQTDSLSPS → MTELEYPKG in isoform 5. 1 Publication9
Alternative sequenceiVSP_0094441M → MQTSNQM in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_0368051M → METESGPQTSNQM in isoform 3. 2 Publications1
Alternative sequenceiVSP_05538310 – 118Missing in isoform 5. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_009445184Q → QGIKQCHTRRWMDSLLPFTK CDE in isoform 2. 1 Publication1
Alternative sequenceiVSP_009446277 – 283TVWSIHY → CGAFIIKTIGQLYSSSTDFL SNDPCVAEIQLQRTS in isoform 2. 1 Publication7

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q8N9W6-5]
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.
UCSCiuc002uus.2. human. [Q8N9W6-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiBOLL_HUMAN
AccessioniPrimary (citable) accession number: Q8N9W6
Secondary accession number(s): B4DZA4
, Q0JW32, Q53T62, Q969U3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: March 1, 2004
Last modified: August 30, 2017
This is version 131 of the entry and version 2 of the sequence. See 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