U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 100528062, updated on 8-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See ARMCX5-GPRASP2 in Genome Data Viewer
Location:
Xq22.1
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (102599348..102908064)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101044303..101353019)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials
Tools
Miscellaneous