GEM
GTP-binding protein GEM
Also known as: GEM_HUMAN, KIR
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55040
- Gene
- GEM
- Ensembl
- ENSG00000164949
- Chromosome
- 8
- Canonical length
- 296 aa
- Protein class
- Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
296 residues, UniProt reviewed canonical sequence.
>P55040|GEM
1 MTLNNVTMRQ GTVGMQPQQQ RWSIPADGRH LMVQKEPHQY SHRNRHSATP EDHCRRSWSS
61 DSTDSVISSE SGNTYYRVVL IGEQGVGKST LANIFAGVHD SMDSDCEVLG EDTYERTLMV
121 DGESATIILL DMWENKGENE WLHDHCMQVG DAYLIVYSIT DRASFEKASE LRIQLRRARQ
181 TEDIPIILVG NKSDLVRCRE VSVSEGRACA VVFDCKFIET SAAVQHNVKE LFEGIVRQVR
241 LRRDSKEKNE RRLAYQKRKE SMPRKARRFW GKIVAKNNKN MAFKLKSKSC HDLSVLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GEM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 215 nTPM
Expression across tissuesHPA
Tissue
- gallbladder: 215 nTPM
- blood vessel: 160 nTPM
- colon: 103 nTPM
- endometrium: 91 nTPM
- urinary bladder: 85 nTPM
- smooth muscle: 72 nTPM
Single-cell type
- smooth muscle cells: 414 nCPM
- fibroblasts: 402 nCPM
- retinal pigment epithelial cells: 401 nCPM
- pericytes: 372 nCPM
- vascular smooth muscle cells: 335 nCPM
- decidual stromal cells: 292 nCPM
Immune cell
- myeloid DC: 1.4 nTPM
- T-reg: 0.2 nTPM
- NK-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
Brain region
- choroid plexus: 70 nTPM
- hypothalamus: 35 nTPM
- medulla oblongata: 17 nTPM
- thalamus: 16 nTPM
- midbrain: 16 nTPM
- cerebral cortex: 15 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.26
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.12
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell surface receptor signaling pathway
- chromosome organization
- immune response
- metaphase chromosome alignment
- mitotic cell cycle
- signal transduction
Molecular functions
- calcium channel regulator activity
- calmodulin binding
- GDP binding
- GTP binding
- GTPase activity
- magnesium ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GEM as an antibody target. Whether an autoantibody or antibody against GEM could matter depends on whether native GEM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GEM is annotated at the cell surface, where native GEM is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GEM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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