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    ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough [ Homo sapiens (human) ]

    Gene ID: 100528062, updated on 19-Sep-2024

    Summary

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    Official Symbol
    ARMCX5-GPRASP2provided by HGNC
    Official Full Name
    ARMCX5-GPRASP2 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:42000
    See related
    Ensembl:ENSG00000286237 AllianceGenome:HGNC:42000
    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
    bHLHb9; p60TRP; GPRASP3; ARMCX5-GPRASP2-BHLHB9-LINC00630
    Summary
    This locus represents naturally occurring readthrough transcription among the adjacent armadillo repeat containing, X-linked 5 (ARMCX5), G protein-coupled receptor associated sorting proteins 1 and 2 (GPRASP1 and GPRASP2), basic helix-loop-helix family member b9 (BHLHB9), and long intergenic non-protein coding RNA 630 (LINC00630) genes on chromosome X. Transcripts may make use of multiple alternative promoters and polyadenylation signals in this region. Readthrough transcripts may produce proteins identical to the proteins encoded by GPRASP2 or BHLHB9. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in brain (RPKM 5.9), ovary (RPKM 5.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ARMCX5-GPRASP2 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102599348..102908064)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101044303..101353019)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (101854276..102162992)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene nuclear RNA export factor 5 pseudogene Neighboring gene forkhead box N3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:101854489-101855260 Neighboring gene nuclear RNA export factor 4 (pseudogene) Neighboring gene armadillo repeat containing X-linked 5 Neighboring gene H3 histone pseudogene 45 Neighboring gene G protein-coupled receptor associated sorting protein 1 Neighboring gene RNA, U6 small nuclear 589, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29815 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:101988771-101989306 Neighboring gene BEN domain containing 7 pseudogene 1 Neighboring gene G protein-coupled receptor associated sorting protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20919 Neighboring gene G protein-coupled receptor associated sorting protein family member 3 Neighboring gene long intergenic non-protein coding RNA 630 Neighboring gene MT-ND1 pseudogene 32 Neighboring gene MT-ATP6 pseudogene 19 Neighboring gene MT-ND2 pseudogene 2 Neighboring gene MT-CO1 pseudogene 19 Neighboring gene MT-CO2 pseudogene 19 Neighboring gene MT-CO3 pseudogene 19 Neighboring gene MT-ND4 pseudogene 32 Neighboring gene MT-ND5 pseudogene 26 Neighboring gene MT-ND6 pseudogene 32 Neighboring gene MT-CYB pseudogene 32 Neighboring gene RAB40A like Neighboring gene NUDT19 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 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. Discovery of epigenetically silenced genes by methylated DNA immunoprecipitation in colon cancer cells. Jacinto FV, et al. Cancer Res, 2007 Dec 15. PMID 18089774
    2. Characterizing the new transcription regulator protein p60TRP. Heese K, et al. J Cell Biochem, 2004 Apr 1. PMID 15034937
    3. Identification of a novel family of G protein-coupled receptor associated sorting proteins. Simonin F, et al. J Neurochem, 2004 May. PMID 15086532
    4. A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Goehler H, et al. Mol Cell, 2004 Sep 24. PMID 15383276
    5. 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

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ39373, KIAA1701

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein-coupled receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables G protein-coupled receptor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amyloid-beta binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 hematopoietic stem cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    G-protein coupled receptor-associated sorting protein 2; protein BHLHb9
    Names
    ARMCX5-GPRASP2-BHLHB9-LINC00630 readthrough
    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.

    mRNA and Protein(s)

    1. NM_001199818.1 → NP_001186747.1  G-protein coupled receptor-associated sorting protein 2 isoform Gprasp2

      See identical proteins and their annotated locations for NP_001186747.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) incorporates exons from ARMCX5 and GPRASP2 and encodes the same protein as GPRASP2.
      Source sequence(s)
      AL035427, AL035551, BG392679
      UniProtKB/Swiss-Prot
      D3DXA0, Q8NAB4, Q96D09
      UniProtKB/TrEMBL
      B3KW05
      Conserved Domains (2) summary
      pfam04826
      Location:593 → 837
      Arm_2; Armadillo-like
      cl26386
      Location:1 → 163
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    2. NM_001350268.2 → NP_001337197.1  protein BHLHb9 isoform Bhlhb9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) incorporates exons from ARMCX5, GPRASP2, and BHLHB9 and encodes the same protein as BHLHB9.
      Source sequence(s)
      AL035427, AL035551
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    3. NM_001350269.2 → NP_001337198.1  protein BHLHb9 isoform Bhlhb9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) incorporates exons from GPRASP2 and BHLHB9 and encodes the same protein as BHLHB9.
      Source sequence(s)
      AL035427
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Related
      ENSP00000498643.1, ENST00000652409.1
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    4. NM_001350270.1 → NP_001337199.1  protein BHLHb9 isoform Bhlhb9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) incorporates exons from GPRASP2 and BHLHB9 and encodes the same protein as BHLHB9.
      Source sequence(s)
      AL035427
      UniProtKB/Swiss-Prot
      Q6PI77, Q9C0G2
      Conserved Domains (1) summary
      pfam04826
      Location:314 → 542
      Arm_2; Armadillo-like

    RNA

    1. NR_146584.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) incorporates exons from ARMCX5, GPRASP2, BHLHB9, and LINC00630 and is unlikely to encode a protein.
      Source sequence(s)
      AL035427, AL035551, AL590407, FO393405, Z68871, Z95624

    2. NR_146585.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) incorporates exons from GPRASP2 and BHLHB9 and is unlikely to encodes a protein.
      Source sequence(s)
      AL035427

    3. NR_146586.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) incorporates exons from GPRASP2 and BHLHB9 and is unlikely to encode a protein.
      Source sequence(s)
      AL035427

    4. NR_146587.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) incorporates exons from GPRASP2, BHLHB9, and LINC00630 and is unlikely to encode a protein.
      Source sequence(s)
      AL035427, AL590407, Z68871

    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
      102599348..102908064
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      101044303..101353019
      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
    Q96D09.1 GenPept UniProtKB/Swiss-Prot:Q96D09

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