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    RASL10A RAS like family 10 member A [ Homo sapiens (human) ]

    Gene ID: 10633, updated on 28-Oct-2024

    Summary

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    Official Symbol
    RASL10Aprovided by HGNC
    Official Full Name
    RAS like family 10 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:16954
    See related
    Ensembl:ENSG00000100276 MIM:602220; AllianceGenome:HGNC:16954
    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
    RRP22
    Summary
    Predicted to enable GTPase activity. Predicted to be involved in small GTPase-mediated signal transduction. Predicted to be located in nucleolus and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in brain (RPKM 6.1) and testis (RPKM 0.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See RASL10A in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29312933..29319859, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29776344..29783270, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29708922..29711686, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29663849-29664720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18813 Neighboring gene EWS RNA binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29698939-29699439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29701647-29702392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29702393-29703136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18815 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710073-29710877 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29710878-29711682 Neighboring gene growth arrest specific 2 like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29726349-29727305 Neighboring gene small nucleolar RNA, C/D box 125 Neighboring gene adaptor related protein complex 1 subunit beta 1 Neighboring gene ret finger protein like 1 Neighboring gene uncharacterized LOC102723305

    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. DNA hypermethylation and histone modifications downregulate the candidate tumor suppressor gene RRP22 on 22q12 in human gliomas. Schmidt N, et al. Brain Pathol, 2012 Jan. PMID 21631628, Free PMC Article
    2. RRP22: a novel neural tumor suppressor for astrocytoma. Chen R, et al. Med Oncol, 2012 Mar. PMID 21264544
    3. 22q11.2 deletion syndrome: are motor deficits more than expected for IQ level? Roizen NJ, et al. J Pediatr, 2010 Oct. PMID 20646714, Free PMC Article
    4. RRP22 is a farnesylated, nucleolar, Ras-related protein with tumor suppressor potential. Elam C, et al. Cancer Res, 2005 Apr 15. PMID 15833841
    5. Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region. Zucman-Rossi J, et al. Genomics, 1996 Dec 15. PMID 8975699

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RRP22 is a special neural tumor suppressor for human astrocytomas
      Title: RRP22: a novel neural tumor suppressor for astrocytoma.
    2. Both 5'-CpG island hypermethylation and histone modifications contribute to the frequent and prognostically unfavorable transcriptional downregulation of RRP22 in malignant gliomas.
      Title: DNA hypermethylation and histone modifications downregulate the candidate tumor suppressor gene RRP22 on 22q12 in human gliomas.
    3. chromosome 22 have specific motor deficits in axial stability and graphomotor skills.
      Title: 22q11.2 deletion syndrome: are motor deficits more than expected for IQ level?
    4. RRP22 localizes to the nucleolus in a GTP-dependent manner and can serve as a potential tumor suppressor.
      Title: RRP22 is a farnesylated, nucleolar, Ras-related protein with tumor suppressor potential.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    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

    • AC002059.10

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in small GTPase-mediated signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras-like protein family member 10A
    Names
    ras-like protein RRP22
    ras-related protein on chromosome 22
    NP_006468.1
    XP_011528124.1
    XP_011528125.1
    XP_054180956.1
    XP_054180957.1

    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_006477.5 → NP_006468.1  ras-like protein family member 10A

      See identical proteins and their annotated locations for NP_006468.1

      Status: VALIDATED

      Source sequence(s)
      AC002059, BX111994, Y07847
      Consensus CDS
      CCDS13854.1
      UniProtKB/Swiss-Prot
      Q49AU5, Q6PI03, Q92737
      Related
      ENSP00000216101.6, ENST00000216101.7
      Conserved Domains (1) summary
      cl38936
      Location:5 → 203
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29312933..29319859 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529823.2 → XP_011528125.1  ras-like protein family member 10A isoform X2

      Conserved Domains (1) summary
      cl21455
      Location:25 → 155
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_011529822.1 → XP_011528124.1  ras-like protein family member 10A isoform X1

      See identical proteins and their annotated locations for XP_011528124.1

      Conserved Domains (1) summary
      cl21455
      Location:86 → 223
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29776344..29783270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324982.1 → XP_054180957.1  ras-like protein family member 10A isoform X2

    2. XM_054324981.1 → XP_054180956.1  ras-like protein family member 10A isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007279.1: Suppressed sequence

      Description
      NM_001007279.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92737.1 GenPept UniProtKB/Swiss-Prot:Q92737

    Gene LinkOut

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

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