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BOLL boule homolog, RNA binding protein [ Homo sapiens (human) ]

Gene ID: 66037, updated on 8-Dec-2018

Summary

Official Symbol
BOLLprovided by HGNC
Official Full Name
boule homolog, RNA binding proteinprovided by HGNC
Primary source
HGNC:HGNC:14273
See related
Ensembl:ENSG00000152430 MIM:606165
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BOULE
Summary
This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 22.5) See more
Orthologs

Genomic context

See BOLL in Genome Data Viewer
Location:
2q33.1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (197726879..197786312, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198591603..198651036, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene raftlin family member 2 Neighboring gene methionyl-tRNA synthetase 2, mitochondrial Neighboring gene uncharacterized LOC105373828 Neighboring gene PLCL1 intron CAGE-defined T cell enhancer Neighboring gene phospholipase C like 1 (inactive)

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mRNA 3'-UTR binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
translation activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
3'-UTR-mediated mRNA stabilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
germ cell development IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle IDA
Inferred from Direct Assay
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein boule-like
Names
bol, boule-like
boule-like RNA binding protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001284358.1NP_001271287.1  protein boule-like isoform 3

    See identical proteins and their annotated locations for NP_001271287.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks two consecutive exons in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC011997, AK302817
    Consensus CDS
    CCDS63081.1
    UniProtKB/Swiss-Prot
    Q8N9W6
    Related
    ENSP00000282278.8, ENST00000282278.12
  2. NM_001284361.1NP_001271290.1  protein boule-like isoform 4

    See identical proteins and their annotated locations for NP_001271290.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the UTRs and has multiple coding region differences one of which causes a frameshift, compared to variant 1. These differences also cause translation initiation at an alternate AUG. The enocoded isoform (4) is longer and has distinct N- and C-termini compared to isoform 1.
    Source sequence(s)
    AC011997, AK093453
    UniProtKB/Swiss-Prot
    Q8N9W6
    Related
    ENSP00000397711.1, ENST00000430004.5
    Conserved Domains (2) summary
    COG0724
    Location:38119
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:37117
    RRM_BOULE; RNA recognition motif in protein BOULE
  3. NM_001284362.1NP_001271291.1  protein boule-like isoform 5

    See identical proteins and their annotated locations for NP_001271291.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' most exon and initiated translation at a alternate start codon compared to variant 1. The encoded isoofrm (5) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC011997, AM295005
    UniProtKB/Swiss-Prot
    Q8N9W6
    Conserved Domains (2) summary
    COG0724
    Location:38119
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:37117
    RRM_BOULE; RNA recognition motif in protein BOULE
  4. NM_033030.5NP_149019.1  protein boule-like isoform 2

    See identical proteins and their annotated locations for NP_149019.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream in-frame start codon, as compared to variant 1. The encoded isoform 2 has a shorter N-terminus, as compared to isoform 1.
    Source sequence(s)
    AI424966, AK058099, BC033674
    Consensus CDS
    CCDS2325.1
    UniProtKB/Swiss-Prot
    Q8N9W6
    Related
    ENSP00000376116.4, ENST00000392296.8
    Conserved Domains (2) summary
    cd12673
    Location:31111
    RRM_BOULE; RNA recognition motif in protein BOULE
    cl25887
    Location:33256
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  5. NM_197970.2NP_932074.1  protein boule-like isoform 1

    See identical proteins and their annotated locations for NP_932074.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI424966, AK097795, BC033674
    Consensus CDS
    CCDS2324.1
    UniProtKB/Swiss-Prot
    Q8N9W6
    Related
    ENSP00000314792.7, ENST00000321801.11
    Conserved Domains (2) summary
    COG0724
    Location:44125
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:43123
    RRM_BOULE; RNA recognition motif in protein BOULE

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    197726879..197786312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006712715.4XP_006712778.1  protein boule-like isoform X5

    Conserved Domains (2) summary
    COG0724
    Location:44125
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:43123
    RRM_BOULE; RNA recognition motif in protein BOULE
  2. XM_011511692.3XP_011509994.1  protein boule-like isoform X1

    Conserved Domains (2) summary
    COG0724
    Location:44125
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:43123
    RRM_BOULE; RNA recognition motif in protein BOULE
  3. XM_011511693.3XP_011509995.1  protein boule-like isoform X3

    Conserved Domains (2) summary
    COG0724
    Location:44125
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:43123
    RRM_BOULE; RNA recognition motif in protein BOULE
  4. XM_024453053.1XP_024308821.1  protein boule-like isoform X2

    Conserved Domains (2) summary
    cd12673
    Location:41121
    RRM_BOULE; RNA recognition motif in protein BOULE
    cl28087
    Location:122307
    FtsK; DNA segregation ATPase FtsK/SpoIIIE and related proteins [Cell cycle control, cell division, chromosome partitioning]
  5. XM_024453054.1XP_024308822.1  protein boule-like isoform X6

    Conserved Domains (2) summary
    cd12673
    Location:31111
    RRM_BOULE; RNA recognition motif in protein BOULE
    cl25887
    Location:33240
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
  6. XM_011511694.2XP_011509996.1  protein boule-like isoform X4

    Conserved Domains (2) summary
    COG0724
    Location:32113
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12673
    Location:31111
    RRM_BOULE; RNA recognition motif in protein BOULE
  7. XM_017004773.2XP_016860262.1  protein boule-like isoform X7

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