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BHLHB9 basic helix-loop-helix family member b9 [ Homo sapiens (human) ]

Gene ID: 80823, updated on 11-Jun-2021

Summary

Official Symbol
BHLHB9provided by HGNC
Official Full Name
basic helix-loop-helix family member b9provided by HGNC
Primary source
HGNC:HGNC:29353
See related
Ensembl:ENSG00000198908 MIM:300921
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GASP3; p60TRP
Summary
This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
Expression
Ubiquitous expression in brain (RPKM 7.7), ovary (RPKM 2.9) and 24 other tissues See more
Orthologs
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Genomic context

See BHLHB9 in Genome Data Viewer
Location:
Xq22.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (102720743..102753540)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101975671..102008468)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ARMCX5-GPRASP2 readthrough Neighboring gene BEN domain containing 7 pseudogene 1 Neighboring gene G protein-coupled receptor associated sorting protein 2 Neighboring gene long intergenic non-protein coding RNA 630 Neighboring gene MT-ND1 pseudogene 32 Neighboring gene MT-ND2 pseudogene 2

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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough ARMCX5-GPRASP2

Readthrough gene: ARMCX5-GPRASP2, Included gene: GPRASP1, Included gene: ARMCX5, Included gene: GPRASP2, Included gene: LINC00630

Homology

Clone Names

  • KIAA1701

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in learning or memory ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in extracellular exosome HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein BHLHb9
Names
basic helix-loop-helix domain containing, class B, 9
p60-like protein
p60-transcription-regulator-protein
transcription regulator of 60 kDa

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_021340.1 RefSeqGene

    Range
    5030..37827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142524.2NP_001135996.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001135996.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, AL035427, BC041409, DA104939
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Related
    ENSP00000403226.1, ENST00000457056.6
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  2. NM_001142525.2NP_001135997.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001135997.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, AL035427, BC041409, DA397309
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  3. NM_001142526.2NP_001135998.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001135998.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, AL035427, BC041409, DA397309, DA398982
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  4. NM_001142527.2NP_001135999.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001135999.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, AL035427, BC041409, DA718424
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  5. NM_001142528.2NP_001136000.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001136000.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, AL035427, BC041409, DA211842, DA397309
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  6. NM_001142529.1NP_001136001.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001136001.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, BC041409, DA218716, DA326404
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Related
    ENSP00000405893.1, ENST00000447531.5
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  7. NM_001142530.1NP_001136002.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_001136002.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, BC041409, DA326404, DA494496
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Related
    ENSP00000391722.1, ENST00000448867.1
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like
  8. NM_030639.3NP_085142.1  protein BHLHb9

    See identical proteins and their annotated locations for NP_085142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same protein.
    Source sequence(s)
    AB051488, AL035427, BC041409
    Consensus CDS
    CCDS14502.1
    UniProtKB/Swiss-Prot
    Q6PI77
    Related
    ENSP00000354675.4, ENST00000361229.8
    Conserved Domains (1) summary
    pfam04826
    Location:314542
    Arm_2; Armadillo-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    102720743..102753540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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