Q17QA0
Gene name |
GEMIN7 |
Protein name |
Gem-associated protein 7 |
Names |
Gemin-7 |
Species |
Bos taurus (Bovine) |
KEGG Pathway |
bta:618024 |
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 Q17QA0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q17QA0-F1 | Predicted | AlphaFoldDB |
109 variants for Q17QA0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs473072000 | 2 | Q>H | No | EVA | |
| rs452978080 | 2 | Q>K | No | EVA | |
| rs441645697 | 3 | T>P | No | EVA | |
| rs475778346 | 4 | P>R | No | EVA | |
| rs444270763 | 7 | T>P | No | EVA | |
| rs457788867 | 10 | P>L | No | EVA | |
| rs477760842 | 11 | V>L | No | EVA | |
| rs440160561 | 13 | R>L | No | EVA | |
| rs479950884 | 16 | R>G | No | EVA | |
| rs448499834 | 16 | R>L | No | EVA | |
| rs479950884 | 16 | R>W | No | EVA | |
| rs468519830 | 17 | G>D | No | EVA | |
| rs468519830 | 17 | G>V | No | EVA | |
| rs482534190 | 18 | P>A | No | EVA | |
| rs464761880 | 19 | D>E | No | EVA | |
| rs451174171 | 19 | D>V | No | EVA | |
| rs433403342 | 20 | G>R | No | EVA | |
| rs466718635 | 22 | N>I | No | EVA | |
| rs455346382 | 24 | G>V | No | EVA | |
| rs475372916 | 25 | F>I | No | EVA | |
| rs444301666 | 25 | F>L | No | EVA | |
| rs451543240 | 26 | A>P | No | EVA | |
| rs451543240 | 26 | A>S | No | EVA | |
| rs479977187 | 28 | D>A | No | EVA | |
| rs442062011 | 28 | D>E | No | EVA | |
| rs460282652 | 28 | D>N | No | EVA | |
| rs479977187 | 28 | D>V | No | EVA | |
| rs482166453 | 30 | R>G | No | EVA | |
| rs447066942 | 31 | R>S | No | EVA | |
| rs478486070 | 31 | R>T | No | EVA | |
| rs467109455 | 32 | A>P | No | EVA | |
| rs455299943 | 35 | K>Q | No | EVA | |
| rs437598766 | 38 | V>G | No | EVA | |
| rs471539063 | 40 | E>G | No | EVA | |
| rs451184587 | 40 | E>Q | No | EVA | |
| rs453912129 | 45 | R>P | No | EVA | |
| rs473971717 | 46 | E>* | No | EVA | |
| rs442107797 | 46 | E>G | No | EVA | |
| rs473971717 | 46 | E>Q | No | EVA | |
| rs442107797 | 46 | E>V | No | EVA | |
| rs462270216 | 47 | S>A | No | EVA | |
| rs462270216 | 47 | S>P | No | EVA | |
| rs475888096 | 50 | Q>P | No | EVA | |
| rs444478470 | 51 | Q>P | No | EVA | |
| rs458108510 | 52 | A>D | No | EVA | |
| rs447066839 | 53 | R>G | No | EVA | |
| rs460763326 | 53 | R>P | No | EVA | |
| rs468939562 | 54 | A>D | No | EVA | |
| rs468939562 | 54 | A>G | No | EVA | |
| rs449456751 | 54 | A>P | No | EVA | |
| rs449456751 | 54 | A>S | No | EVA | |
| rs437632127 | 55 | S>A | No | EVA | |
| rs437632127 | 55 | S>P | No | EVA | |
| rs437632127 | 55 | S>T | No | EVA | |
| rs444818961 | 55 | S>Y | No | EVA | |
| rs431927907 | 56 | L>P | No | EVA | |
| rs453897385 | 57 | R>L | No | EVA | |
| rs453897385 | 57 | R>P | No | EVA | |
| rs474126123 | 58 | E>A | No | EVA | |
| rs436229341 | 58 | E>D | No | EVA | |
| rs474126123 | 58 | E>G | No | EVA | |
| rs474126123 | 58 | E>V | No | EVA | |
| rs456300805 | 59 | R>G | No | EVA | |
| rs475930774 | 59 | R>P | No | EVA | |
| rs440385951 | 60 | Y>* | No | EVA | |
| rs137074984 | 60 | Y>C | No | EVA | |
| rs458147391 | 60 | Y>D | No | EVA | |
| rs137074984 | 60 | Y>F | No | EVA | |
| rs458147391 | 60 | Y>H | No | EVA | |
| rs137074984 | 60 | Y>S | No | EVA | |
| rs460842800 | 61 | L>I | No | EVA | |
| rs480935836 | 61 | L>P | No | EVA | |
| rs449424765 | 62 | R>L | No | EVA | |
| rs449424765 | 62 | R>P | No | EVA | |
| rs462957222 | 63 | S>G | No | EVA | |
| rs462957222 | 63 | S>R | No | EVA | |
| rs482539238 | 63 | S>R | No | EVA | |
| rs444854746 | 64 | L>P | No | EVA | |
| rs433621566 | 65 | L>P | No | EVA | |
| rs447230514 | 66 | A>G | No | EVA | |
| rs436272629 | 67 | M>K | No | EVA | |
| rs467679908 | 67 | M>L | No | EVA | |
| rs467679908 | 67 | M>V | No | EVA | |
| rs456353581 | 68 | V>E | No | EVA | |
| rs456353581 | 68 | V>G | No | EVA | |
| rs469943019 | 69 | G>R | No | EVA | |
| rs438116007 | 70 | R>G | No | EVA | |
| rs451776159 | 70 | R>H | No | EVA | |
| rs471905087 | 71 | P>A | No | EVA | |
| rs454079421 | 72 | V>G | No | EVA | |
| rs474531399 | 73 | C>G | No | EVA | |
| rs443076518 | 77 | H>Q | No | EVA | |
| rs438961960 | 83 | I>M | No | EVA | |
| rs482977520 | 83 | I>S | No | EVA | |
| rs1118039125 | 85 | H>R | No | EVA | |
| rs458518732 | 91 | L>R | No | EVA | |
| rs467364475 | 95 | N>K | No | EVA | |
| rs447228240 | 95 | N>T | No | EVA | |
| rs481394750 | 111 | A>P | No | EVA | |
| rs469979815 | 112 | L>P | No | EVA | |
| rs432186408 | 114 | R>G | No | EVA | |
| rs452308861 | 115 | C>G | No | EVA | |
| rs465449896 | 119 | I>F | No | EVA | |
| rs434040386 | 120 | S>P | No | EVA | |
| rs454057597 | 121 | Y>S | No | EVA | |
| rs474183076 | 122 | T>P | No | EVA | |
| rs445696061 | 123 | F>L | No | EVA | |
| rs456717710 | 123 | F>S | No | EVA | |
| rs438998943 | 126 | P>K | No | EVA |
No associated diseases with Q17QA0
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Gemini of coiled bodies | Nuclear bodies frequently found near or associated with Cajal bodies (also called coiled bodies or CBs). Gemini of coiled bodies, or 'gems', are similar in size and shape to CBs, and often indistinguishable under the microscope. Unlike CBs, gems do not contain small nuclear ribonucleoproteins (snRNPs); they contain a protein called survivor of motor neurons (SMN) whose function relates to snRNP biogenesis. Gems are believed to assist CBs in snRNP biogenesis, and to play a role in the etiology of spinal muscular atrophy (SMA). |
| Sm-like protein family complex | A protein complex containing members of the Like-Sm family of proteins, which includes both the Sm proteins and the Lsm proteins, and which generally form hexameric or heptameric ring structures which bind to RNA. While some of these ring complexes may form independently of RNA, many only form in association with their target RNA. In addition to Lsm-family proteins, many of these complexes contain additional protein members. Members of this family of complexes include the snRNPs which comprise the majority of the spliceosome. Others are involved in the 5' to 3' degradation pathways of mRNAs in the cytoplasm and of unspliced transcripts in the nucleus, as well as other diverse roles. |
| SMN complex | A protein complex that contains the survival motor neuron (SMN) protein and at least eight additional integral components, including the Gemin2-8 and Unrip proteins; the complex is found in the cytoplasm and in nuclear Gems, and is involved in spliceosomal snRNP assembly in the cytoplasm and in pre-mRNA splicing in the nucleus. |
| SMN-Sm protein complex | A protein complex formed by the association of several methylated Sm proteins with the SMN complex; the latter contains the survival motor neuron (SMN) protein and at least eight additional integral components, including the Gemin2-8 and unrip proteins; additional proteins, including galectin-1 and galectin-3, are also found in the SMN-SM complex. The SMN-Sm complex is involved in spliceosomal snRNP assembly in the cytoplasm. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| spliceosomal snRNP assembly | The aggregation, arrangement and bonding together of one or more snRNA and multiple protein components to form a ribonucleoprotein complex that is involved in formation of the spliceosome. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQTPLATPVP | VLRLPRGPDG | SNRGFAPDGR | RAPPKPEVPE | PPESRESWEQ | QARASLRERY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LRSLLAMVGR | PVCFTLHEGV | QVIAHFGATD | LDVANFYVSQ | LQTPIGIQAE | ALLRCSDIIS |
| YTFKP |