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

Gene ID: 6236, updated on 28-Oct-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, Oct 2024]
Expression
Biased expression in heart (RPKM 57.6), esophagus (RPKM 28.6) and 11 other tissues See more
Orthologs
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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 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 
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)

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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_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)