P55041
Gene name |
Gem (Kir) |
Protein name |
GTP-binding protein GEM |
Names |
GTP-binding mitogen-induced T-cell protein, RAS-like protein KIR |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:14579 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P55041
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P55041-F1 | Predicted | AlphaFoldDB |
11 variants for P55041
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3388676640 | 18 | Q>* | No | EVA | |
| rs237455870 | 49 | P>L | No | EVA | |
| rs27715291 | 89 | T>S | No | EVA | |
| rs3388670226 | 90 | L>M | No | EVA | |
| rs3388667741 | 111 | D>G | No | EVA | |
| rs3388660126 | 138 | N>H | No | EVA | |
| rs3393911137 | 152 | Y>F | No | EVA | |
| rs3388673207 | 160 | D>E | No | EVA | |
| rs3388676595 | 179 | Q>L | No | EVA | |
| rs3388670323 | 187 | L>W | No | EVA | |
| rs3388671968 | 227 | V>M | No | EVA |
1 associated diseases with P55041
[MIM: 619311]: Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS)
An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities. {ECO:0000269|PubMed:30500825, ECO:0000269|PubMed:30761613}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities. {ECO:0000269|PubMed:30500825, ECO:0000269|PubMed:30761613}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P55041
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 16 - 168 | IPR005225 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| spindle midzone | The area in the center of the spindle where the spindle microtubules from opposite poles overlap. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel regulator activity | Modulates the activity of a calcium channel. |
| GDP binding | Binding to GDP, guanosine 5'-diphosphate. |
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
| magnesium ion binding | Binding to a magnesium (Mg) ion. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| chromosome organization | A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. |
| metaphase plate congression | The alignment of chromosomes at the metaphase plate (spindle equator), a plane halfway between the poles of the spindle. |
| mitotic cell cycle | Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. |
| negative regulation of high voltage-gated calcium channel activity | Any process that stops, prevents or reduces the frequency, rate or extent of high voltage-gated calcium channel activity. |
34 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P08642 | HRAS | GTPase HRas | Gallus gallus (Chicken) | SS |
| P11233 | RALA | Ras-related protein Ral-A | Homo sapiens (Human) | PR |
| Q6T310 | RASL11A | Ras-like protein family member 11A | Homo sapiens (Human) | PR |
| P01116 | KRAS | GTPase KRas | Homo sapiens (Human) | EV |
| P62070 | RRAS2 | Ras-related protein R-Ras2 | Homo sapiens (Human) | PR |
| P11234 | RALB | Ras-related protein Ral-B | Homo sapiens (Human) | PR |
| Q99578 | RIT2 | GTP-binding protein Rit2 | Homo sapiens (Human) | PR |
| Q6IQ22 | RAB12 | Ras-related protein Rab-12 | Homo sapiens (Human) | PR |
| Q9BU20 | CPLANE2 | Ciliogenesis and planar polarity effector 2 | Homo sapiens (Human) | PR |
| Q96HU8 | DIRAS2 | GTP-binding protein Di-Ras2 | Homo sapiens (Human) | PR |
| P01112 | HRAS | GTPase HRas | Homo sapiens (Human) | SS |
| Q8IYK8 | REM2 | GTP-binding protein REM 2 | Homo sapiens (Human) | PR |
| P55040 | GEM | GTP-binding protein GEM | Homo sapiens (Human) | PR |
| Q9JIW9 | Ralb | Ras-related protein Ral-B | Mus musculus (Mouse) | PR |
| Q61411 | Hras | GTPase HRas | Mus musculus (Mouse) | SS |
| P32883 | Kras | GTPase KRas | Mus musculus (Mouse) | SS |
| O08989 | Mras | Ras-related protein M-Ras | Mus musculus (Mouse) | PR |
| Q5PR73 | Diras2 | GTP-binding protein Di-Ras2 | Mus musculus (Mouse) | PR |
| Q91Z61 | Diras1 | GTP-binding protein Di-Ras1 | Mus musculus (Mouse) | PR |
| P62071 | Rras2 | Ras-related protein R-Ras2 | Mus musculus (Mouse) | PR |
| P35283 | Rab12 | Ras-related protein Rab-12 | Mus musculus (Mouse) | PR |
| Q08AT1 | Rasl12 | Ras-like protein family member 12 | Mus musculus (Mouse) | PR |
| A2A825 | Cplane2 | Ciliogenesis and planar polarity effector 2 | Mus musculus (Mouse) | PR |
| P70425 | Rit2 | GTP-binding protein Rit2 | Mus musculus (Mouse) | PR |
| Q8VEL9 | Rem2 | GTP-binding protein REM 2 | Mus musculus (Mouse) | PR |
| P36860 | Ralb | Ras-related protein Ral-B | Rattus norvegicus (Rat) | PR |
| P08644 | Kras | GTPase KRas | Rattus norvegicus (Rat) | SS |
| P20171 | Hras | GTPase HRas | Rattus norvegicus (Rat) | SS |
| Q5BJQ5 | Rit2 | GTP-binding protein Rit2 | Rattus norvegicus (Rat) | PR |
| P97538 | Mras | Ras-related protein M-Ras | Rattus norvegicus (Rat) | PR |
| Q9WTY2 | Rem2 | GTP-binding protein REM 2 | Rattus norvegicus (Rat) | PR |
| B7ZTR0 | cplane2 | Ciliogenesis and planar polarity effector 2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| P79737 | nras | GTPase NRas | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A1DZY4 | zgc:110179 | Ras-like protein family member 11A-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLNNVTMRQ | GTVGMQPQQR | WSIPADARHL | MVQKDPHPCN | LRNRHSTAPE | EHCRRSWSSD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| STDSVISSES | GNTYYRVVLI | GEQGVGKSTL | ANIFAGVHDS | MDSDCEVLGE | DTYERTLVVD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GESATIILLD | MWENKGENEW | LHDHCMQVGD | AYLIVYSITD | RASFEKASEL | RIQLRRARQT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDIPIILVGN | KSDLVRCREV | SVSEGRACAV | VFDCKFIETS | AAVQHNVKEL | FEGIVRQVRL |
| 250 | 260 | 270 | 280 | 290 | |
| RRDSKEKNER | RLAYQKRRES | IPRKARRFWG | KIVAKNNKNM | AFKLKSKSCH | DLSVL |