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    RRAD RRAD, Ras related glycolysis inhibitor and calcium channel regulator [ Homo sapiens (human) ]

    Gene ID: 6236, updated on 9-Dec-2024

    Summary

    Official Symbol
    RRADprovided by HGNC
    Official Full Name
    RRAD, Ras related glycolysis inhibitor and calcium channel regulatorprovided by HGNC
    Primary source
    HGNC:HGNC:10446
    See related
    Ensembl:ENSG00000166592 MIM:179503; AllianceGenome:HGNC:10446
    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
    RAD; RAD1; REM3
    Summary
    Predicted to enable GTP binding activity and calcium channel regulator activity. Predicted to be involved in small GTPase-mediated signal transduction. Predicted to be located in T-tubule. Predicted to be active in plasma membrane. Implicated in type 2 diabetes mellitus. Biomarker of congestive heart failure. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart (RPKM 57.6), esophagus (RPKM 28.6) and 11 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See RRAD in Genome Data Viewer
    Location:
    16q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (66921685..66925535, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (72715985..72719835, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (66955588..66959438, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66933011-66933906 Neighboring gene uncharacterized LOC107984821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66933907-66934800 Neighboring gene VISTA enhancer hs1760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66945849-66946350 Neighboring gene cadherin 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66955545-66956068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66956069-66956592 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7572 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:66961058-66962257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:66969029-66969641 Neighboring gene cytosolic iron-sulfur assembly component 2B Neighboring gene carboxylesterase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:66974461-66974960 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:66975020-66976219

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    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 cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    GTP-binding protein RAD
    Names
    RAS (RAD and GEM) like GTP binding 3
    RRAD, Ras related glycolysis inihibitor and calcium channel regulator
    Ras-related associated with diabetes
    ras associated with diabetes
    NP_001122322.1
    NP_004156.1

    NCBI Reference Sequences (RefSeq)

    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_001128850.2NP_001122322.1  GTP-binding protein RAD

      See identical proteins and their annotated locations for NP_001122322.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BC057815
      Consensus CDS
      CCDS10824.1
      UniProtKB/Swiss-Prot
      P55042, Q96F39
      UniProtKB/TrEMBL
      A8K3J8
      Conserved Domains (2) summary
      cd04148
      Location:92308
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
      smart00173
      Location:92252
      RAS; Ras subfamily of RAS small GTPases
    2. NM_004165.3NP_004156.1  GTP-binding protein RAD

      See identical proteins and their annotated locations for NP_004156.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      BP257026, L24564, N93445
      Consensus CDS
      CCDS10824.1
      UniProtKB/Swiss-Prot
      P55042, Q96F39
      UniProtKB/TrEMBL
      A8K3J8
      Related
      ENSP00000299759.6, ENST00000299759.11
      Conserved Domains (2) summary
      cd04148
      Location:92308
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
      smart00173
      Location:92252
      RAS; Ras subfamily of RAS small GTPases

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      66921685..66925535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      72715985..72719835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)