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    RASL12 RAS like family 12 [ Homo sapiens (human) ]

    Gene ID: 51285, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RASL12provided by HGNC
    Official Full Name
    RAS like family 12provided by HGNC
    Primary source
    HGNC:HGNC:30289
    See related
    Ensembl:ENSG00000103710 AllianceGenome:HGNC:30289
    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
    RIS
    Summary
    Predicted to enable GDP binding activity; GTP binding activity; and GTPase activity. Predicted to be involved in signal transduction. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in prostate (RPKM 19.4), endometrium (RPKM 17.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    15q22.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65045580..65076667, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (62855016..62886085, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65345675..65369005, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene SPG21 abhydrolase domain containing, maspardin Neighboring gene H3K27ac hESC enhancers GRCh37_chr15:65281459-65281960 and GRCh37_chr15:65281961-65282460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9590 Neighboring gene mitochondrial methionyl-tRNA formyltransferase Neighboring gene transmembrane protein 126A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9591 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65346770-65347270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65347271-65347771 Neighboring gene SLC51 subunit beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65363995-65364494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65377155-65377680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65378209-65378734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9592 Neighboring gene kelch repeat and BTB domain containing 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65379400-65380041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65385262-65385762 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65386379-65386880 Neighboring gene ubiquitin associated protein 1 like

    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. Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107412
    2. High-throughput mapping of a dynamic signaling network in mammalian cells. Barrios-Rodiles M, et al. Science, 2005 Mar 11. PMID 15761153
    3. SR protein kinases promote splicing of nonconsensus introns. Lipp JJ, et al. Nat Struct Mol Biol, 2015 Aug. PMID 26167880
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article

    See all (12) 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GDP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras-like protein family member 12
    Names
    Ras family member Ris
    ras-like protein Ris
    NP_001294859.1
    NP_001366358.1
    NP_057647.1
    XP_005254491.1
    XP_011519962.1
    XP_016877785.1
    XP_054234136.1
    XP_054234137.1
    XP_054234138.1

    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_001307930.2 → NP_001294859.1  ras-like protein family member 12 isoform 2

      See identical proteins and their annotated locations for NP_001294859.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC013553, AF233588, AK296261, BI489884
      Consensus CDS
      CCDS76769.1
      UniProtKB/Swiss-Prot
      Q9NYN1
      Related
      ENSP00000390028.3, ENST00000421977.7
      Conserved Domains (2) summary
      smart00173
      Location:23 → 166
      RAS; Ras subfamily of RAS small GTPases
      cl21455
      Location:22 → 166
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001379429.1 → NP_001366358.1  ras-like protein family member 12 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC013553
      Consensus CDS
      CCDS92017.1
      Related
      ENSP00000412787.2, ENST00000434605.2
      Conserved Domains (1) summary
      cl38936
      Location:24 → 174
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_016563.4 → NP_057647.1  ras-like protein family member 12 isoform 1

      See identical proteins and their annotated locations for NP_057647.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC013553, AF233588, BI489884
      Consensus CDS
      CCDS10200.1
      UniProtKB/Swiss-Prot
      B2RC29, B4DJW2, B4DU82, Q9NYN1
      Related
      ENSP00000220062.4, ENST00000220062.9
      Conserved Domains (1) summary
      cd04146
      Location:22 → 185
      RERG_RasL11_like; Ras-related and Estrogen-Regulated Growth inhibitor (RERG) and Ras-like 11 (RasL11)-like families

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65045580..65076667 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254434.5 → XP_005254491.1  ras-like protein family member 12 isoform X3

      Conserved Domains (1) summary
      cl21455
      Location:22 → 142
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_017022296.2 → XP_016877785.1  ras-like protein family member 12 isoform X2

    3. XM_011521660.4 → XP_011519962.1  ras-like protein family member 12 isoform X1

      Conserved Domains (2) summary
      smart00173
      Location:27 → 180
      RAS; Ras subfamily of RAS small GTPases
      cl21455
      Location:27 → 180
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      62855016..62886085 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378163.1 → XP_054234138.1  ras-like protein family member 12 isoform X3

    2. XM_054378162.1 → XP_054234137.1  ras-like protein family member 12 isoform X2

    3. XM_054378161.1 → XP_054234136.1  ras-like protein family member 12 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYN1.1 GenPept UniProtKB/Swiss-Prot:Q9NYN1

    Gene LinkOut

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

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