Human Gene GEM (ENST00000396194.6) from GENCODE V44
  Description: Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. (from RefSeq NM_181702)
RefSeq Summary (NM_181702): The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000396194.6
Gencode Gene: ENSG00000164949.8
Transcript (Including UTRs)
   Position: hg38 chr8:94,249,253-94,262,350 Size: 13,098 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chr8:94,250,310-94,260,503 Size: 10,194 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 09:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:94,249,253-94,262,350)mRNA (may differ from genome)Protein (296 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GEM_HUMAN
DESCRIPTION: RecName: Full=GTP-binding protein GEM; AltName: Full=GTP-binding mitogen-induced T-cell protein; AltName: Full=RAS-like protein KIR;
FUNCTION: Could be a regulatory protein, possibly participating in receptor-mediated signal transduction at the plasma membrane. Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity.
SUBUNIT: Interacts with calmodulin in a Ca(2+)-dependent manner. Binds ROCK1.
INTERACTION: P36406:TRIM23; NbExp=3; IntAct=EBI-744104, EBI-740098;
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side.
TISSUE SPECIFICITY: Most abundant in thymus, spleen, kidney, lung, and testis. Less abundant in heart, brain, liver and skeletal muscle.
INDUCTION: By mitogens.
PTM: Phosphorylated on tyrosine residues.
SIMILARITY: Belongs to the small GTPase superfamily. RGK family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 83.51 RPKM in Artery - Aorta
Total median expression: 803.74 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.80155-0.437 Picture PostScript Text
3' UTR -214.701057-0.203 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005225 - Small_GTP-bd_dom
IPR001806 - Small_GTPase
IPR017358 - Small_GTPase_GEM/REM/Rad
IPR020849 - Small_GTPase_Ras

Pfam Domains:
PF00071 - Ras family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CJW - X-ray 2G3Y - X-ray MuPIT 2HT6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55040
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0000287 magnesium ion binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005525 GTP binding
GO:0019003 GDP binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0006955 immune response
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0051276 chromosome organization
GO:0051310 metaphase plate congression
GO:1901842 negative regulation of high voltage-gated calcium channel activity

Cellular Component:
GO:0005634 nucleus
GO:0005886 plasma membrane
GO:0009898 cytoplasmic side of plasma membrane
GO:0016020 membrane
GO:0030496 midbody
GO:0051233 spindle midzone
GO:0072686 mitotic spindle


-  Descriptions from all associated GenBank mRNAs
  BC022010 - Homo sapiens GTP binding protein overexpressed in skeletal muscle, mRNA (cDNA clone MGC:26294 IMAGE:4823985), complete cds.
U10550 - Human Gem GTPase (gem) mRNA, complete cds.
JD327963 - Sequence 308987 from Patent EP1572962.
JD236374 - Sequence 217398 from Patent EP1572962.
JD127687 - Sequence 108711 from Patent EP1572962.
JD305252 - Sequence 286276 from Patent EP1572962.
JD315360 - Sequence 296384 from Patent EP1572962.
JD301521 - Sequence 282545 from Patent EP1572962.
JD303207 - Sequence 284231 from Patent EP1572962.
JD365411 - Sequence 346435 from Patent EP1572962.
DQ890821 - Synthetic construct clone IMAGE:100003451; FLH166220.01X; RZPDo839E0286D GTP binding protein overexpressed in skeletal muscle (GEM) gene, encodes complete protein.
DQ893976 - Synthetic construct Homo sapiens clone IMAGE:100008436; FLH166216.01L; RZPDo839E0285D GTP binding protein overexpressed in skeletal muscle (GEM) gene, encodes complete protein.
U13052 - Human Ras-like protein (kir) mRNA, complete cds.
AK314017 - Homo sapiens cDNA, FLJ94675, Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), mRNA.
CU692448 - Synthetic construct Homo sapiens gateway clone IMAGE:100016993 5' read GEM mRNA.
KJ891235 - Synthetic construct Homo sapiens clone ccsbBroadEn_00629 GEM gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RA31, ENST00000396194.1, ENST00000396194.2, ENST00000396194.3, ENST00000396194.4, ENST00000396194.5, GEM_HUMAN, KIR, NM_181702, P55040, uc003ygi.1, uc003ygi.2, uc003ygi.3, uc003ygi.4
UCSC ID: ENST00000396194.6
RefSeq Accession: NM_181702
Protein: P55040 (aka GEM_HUMAN)
CCDS: CCDS6261.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.