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    GPRASP3 G protein-coupled receptor associated sorting protein family member 3 [ Homo sapiens (human) ]

    Gene ID: 80823, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GPRASP3provided by HGNC
    Official Full Name
    G protein-coupled receptor associated sorting protein family member 3provided by HGNC
    Primary source
    HGNC:HGNC:29353
    See related
    Ensembl:ENSG00000198908 MIM:300921; AllianceGenome:HGNC:29353
    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; BHLHB9; 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
    mouse all
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    Genomic context

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    See GPRASP3 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102720743..102753540)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101165692..101198489)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 29815 Neighboring gene BEN domain containing 7 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:101988771-101989306 Neighboring gene G protein-coupled receptor associated sorting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20919 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Glutamate E15 and E171 are Hotspots in p60TRP-Related Cancer. Kutzner A, et al. Cancer Invest, 2016. PMID 26854063
    2. Characterizing the new transcription regulator protein p60TRP. Heese K, et al. J Cell Biochem, 2004 Apr 1. PMID 15034937
    3. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. Winter EE, et al. BMC Evol Biol, 2005 Oct 12. PMID 16221301, Free PMC Article
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
    5. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    G protein-coupled receptor associated sorting protein 3
    Names
    basic helix-loop-helix domain containing, class B, 9
    basic helix-loop-helix family member b9
    p60-like protein
    p60-transcription-regulator-protein
    protein BHLHB9
    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_001142524.2 → NP_001135996.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Related
      ENSP00000403226.1, ENST00000457056.6
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    2. NM_001142525.2 → NP_001135997.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    3. NM_001142526.2 → NP_001135998.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    4. NM_001142527.2 → NP_001135999.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    5. NM_001142528.2 → NP_001136000.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    6. NM_001142529.1 → NP_001136001.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Related
      ENSP00000405893.1, ENST00000447531.5
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    7. NM_001142530.1 → NP_001136002.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Related
      ENSP00000391722.1, ENST00000448867.1
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    8. NM_030639.3 → NP_085142.1  G protein-coupled receptor associated sorting protein 3

      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
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Related
      ENSP00000354675.4, ENST00000361229.8
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      101165692..101198489
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PI77.1 GenPept UniProtKB/Swiss-Prot:Q6PI77

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