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

    Gene ID: 80823, updated on 19-May-2018
    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; Vega:OTTHUMG00000022060
    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
    See BHLHB9 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (102720714..102752441)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101975642..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 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 pseudogene 32 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 pseudogene 2

    • 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
    Products Interactant Other Gene Complex Source Pubs Description

    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
    protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    learning or memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neurogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    extracellular exosome HDA PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    protein BHLHb9
    Names
    basic helix-loop-helix domain containing, class B, 9
    p60-like protein
    transcription regulator of 60 kDa

    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
      5001..36728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142524.1NP_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, BC041409, DA104939, DA397309
      Consensus CDS
      CCDS14502.1
      UniProtKB/Swiss-Prot
      Q6PI77
      Related
      ENSP00000403226.1, ENST00000457056.5
      Conserved Domains (1) summary
      pfam04826
      Location:314542
      Arm_2; Armadillo-like
    2. NM_001142525.1NP_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, BC041409, DA397309
      Consensus CDS
      CCDS14502.1
      UniProtKB/Swiss-Prot
      Q6PI77
      Conserved Domains (1) summary
      pfam04826
      Location:314542
      Arm_2; Armadillo-like
    3. NM_001142526.1NP_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, BC041409, DA397309, DA398982
      Consensus CDS
      CCDS14502.1
      UniProtKB/Swiss-Prot
      Q6PI77
      Conserved Domains (1) summary
      pfam04826
      Location:314542
      Arm_2; Armadillo-like
    4. NM_001142527.1NP_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, BC041409, DA397309, DA718424
      Consensus CDS
      CCDS14502.1
      UniProtKB/Swiss-Prot
      Q6PI77
      Conserved Domains (1) summary
      pfam04826
      Location:314542
      Arm_2; Armadillo-like
    5. NM_001142528.1NP_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, 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_030639.2NP_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, BC041409, DA397309
      Consensus CDS
      CCDS14502.1
      UniProtKB/Swiss-Prot
      Q6PI77
      Related
      ENSP00000354675.4, OTTHUMP00000023716, ENST00000361229.8, OTTHUMT00000057631
      Conserved Domains (1) summary
      pfam04826
      Location:314542
      Arm_2; Armadillo-like

    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_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      102720714..102752441
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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