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REM1 RRAD and GEM like GTPase 1 [ Homo sapiens (human) ]

Gene ID: 28954, updated on 27-Nov-2024

Summary

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Official Symbol
REM1provided by HGNC
Official Full Name
RRAD and GEM like GTPase 1provided by HGNC
Primary source
HGNC:HGNC:15922
See related
Ensembl:ENSG00000088320 MIM:610388; AllianceGenome:HGNC:15922
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GES; GD:REM
Summary
The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 3.0), endometrium (RPKM 2.6) and 21 other tissues See more
Orthologs
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Genomic context

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See REM1 in Genome Data Viewer
Location:
20q11.21
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31475288..31484895)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33199537..33209122)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30063091..30072698)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 123 Neighboring gene defensin beta 124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12756 Neighboring gene long intergenic non-protein coding RNA 28 Neighboring gene tRNA-Ser (anticodon AGA) 7-1

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. Ges, A human GTPase of the Rad/Gem/Kir family, promotes endothelial cell sprouting and cytoskeleton reorganization. Pan JY, et al. J Cell Biol, 2000 May 29. PMID 10831614, Free PMC Article
  2. Plasma membrane targeting is essential for Rem-mediated Ca2+ channel inhibition. Correll RN, et al. J Biol Chem, 2007 Sep 28. PMID 17686775, Free PMC Article
  3. Adrenergic signaling controls RGK-dependent trafficking of cardiac voltage-gated L-type Ca2+ channels through PKD1. Jhun BS, et al. Circ Res, 2012 Jan 6. PMID 22076634, Free PMC Article
  4. L-type calcium channel alpha-subunit and protein kinase inhibitors modulate Rem-mediated regulation of current. Crump SM, et al. Am J Physiol Heart Circ Physiol, 2006 Oct. PMID 16648185
  5. Regulation of voltage-gated calcium channel activity by the Rem and Rad GTPases. Finlin BS, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14623965, Free PMC Article

See all (13) 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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC48669

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 transmembrane transporter binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of skeletal muscle contraction by calcium ion signaling IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in I band IEA
Inferred from Electronic Annotation
more info
  
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
GTP-binding protein REM 1
Names
GTPase-regulating endothelial cell sprouting
RAS (RAD and GEM)-like GTP-binding 1
NP_054731.2
XP_005260461.1
XP_011527097.1
XP_016883322.1
XP_054179372.1
XP_054179373.1
XP_054179374.1

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.

Genomic

  1. NG_046939.1 RefSeqGene

    Range
    5001..14608
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014012.6 → NP_054731.2  GTP-binding protein REM 1

    See identical proteins and their annotated locations for NP_054731.2

    Status: REVIEWED

    Source sequence(s)
    AF152863, AK313060
    Consensus CDS
    CCDS13181.1
    UniProtKB/Swiss-Prot
    E1P5L1, O75628, Q5TZR7, Q5TZR8, Q9NP57
    Related
    ENSP00000201979.2, ENST00000201979.3
    Conserved Domains (2) summary
    smart00010
    Location:81 → 237
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    cd04148
    Location:81 → 298
    RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras 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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31475288..31484895
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005260404.1 → XP_005260461.1  GTP-binding protein REM 1 isoform X1

    Conserved Domains (2) summary
    smart00010
    Location:81 → 245
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    cd04148
    Location:81 → 306
    RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

  2. XM_011528795.1 → XP_011527097.1  GTP-binding protein REM 1 isoform X2

    Conserved Domains (2) summary
    smart00010
    Location:81 → 243
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    cd04148
    Location:81 → 304
    RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

  3. XM_017027833.2 → XP_016883322.1  GTP-binding protein REM 1 isoform X1

    Conserved Domains (2) summary
    smart00010
    Location:81 → 245
    small_GTPase; Small GTPase of the Ras superfamily; ill-defined subfamily
    cd04148
    Location:81 → 306
    RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33199537..33209122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323397.1 → XP_054179372.1  GTP-binding protein REM 1 isoform X1

  2. XM_054323399.1 → XP_054179374.1  GTP-binding protein REM 1 isoform X2

  3. XM_054323398.1 → XP_054179373.1  GTP-binding protein REM 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75628.2 GenPept UniProtKB/Swiss-Prot:O75628

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