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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
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Genomic context

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See RASL12 in Genome Data Viewer
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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