Q8BGH2
Gene name |
Samm50 |
Protein name |
Sorting and assembly machinery component 50 homolog |
Names |
|
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:68653 |
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 Q8BGH2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8BGH2-F1 | Predicted | AlphaFoldDB |
13 variants for Q8BGH2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389385681 | 45 | V>M | No | EVA | |
| rs31750080 | 49 | H>Q | No | EVA | |
| rs3389385622 | 51 | H>Q | No | EVA | |
| rs3389359820 | 97 | R>I | No | EVA | |
| rs3389379625 | 148 | K>I | No | EVA | |
| rs3389369135 | 214 | E>A | No | EVA | |
| rs3389330705 | 245 | A>P | No | EVA | |
| rs3389389196 | 254 | L>M | No | EVA | |
| rs3389393761 | 274 | R>I | No | EVA | |
| rs3389349081 | 277 | A>D | No | EVA | |
| rs3389349076 | 279 | F>L | No | EVA | |
| rs3389359890 | 336 | R>G | No | EVA | |
| rs3389359847 | 350 | M>T | No | EVA |
No associated diseases with Q8BGH2
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| SAM complex | A large complex of the mitochondrial outer membrane that mediates sorting of some imported proteins to the outer membrane and their assembly in the membrane; functions after import of incoming proteins by the mitochondrial outer membrane translocase complex. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cristae formation | The assembly of cristae, the inwards folds of the inner mitochondrial membrane. |
| mitochondrial respiratory chain complex assembly | The aggregation, arrangement and bonding together of a set of components to form a mitochondrial respiratory chain complex. |
| protein insertion into mitochondrial outer membrane | The process comprising the insertion of proteins from outside the organelle into the mitochondrial outer membrane, mediated by large outer membrane translocase complexes. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2HJ55 | SAMM50 | Sorting and assembly machinery component 50 homolog | Bos taurus (Bovine) | PR |
| Q9V784 | CG7639 | SAM50-like protein CG7639 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y512 | SAMM50 | Sorting and assembly machinery component 50 homolog | Homo sapiens (Human) | PR |
| Q6AXV4 | Samm50 | Sorting and assembly machinery component 50 homolog | Rattus norvegicus (Rat) | PR |
| Q6P806 | samm50 | Sorting and assembly machinery component 50 homolog | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q5U3I0 | samm50b | Sorting and assembly machinery component 50 homolog B | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q803G5 | samm50a | Sorting and assembly machinery component 50 homolog A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGTVHARSLE | PLPSSGTDFG | ALGEEAEFVE | VEPEAKQEIL | ENKDVVVQHV | HFDGLGRTKD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DIIICEIGEV | FKAKNLIEVM | RRSHEAREKL | LRLGIFRQVD | VLIDTCHGED | ALPNGLDVTF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVTELRRLTG | SYNTMVGNNE | GSMVLGLKLP | NLLGRAEKVT | FQFSYGTKET | SYGLSFFKPQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGNFERNFSV | NLYKVTGQFP | WSSLRETDRG | VSAEYSFPLW | KTSHTVKWEG | VWRELGCLSR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TASFAVRKES | GHSLKSSLSH | AMVIDSRNSS | ILPRRGALFK | VNQELAGYTG | GDVSFIKEDF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELQLNKPLAL | DSVFSTSLWG | GMLVPIGDKP | SSIADRFYLG | GPTSVRGFSM | HSIGPQSEGD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YLGGEAYWAG | GLHLYTPLPF | RPGQGGFGEL | FRTHFFLNAG | NLCNLNYGEG | PKAHIRKLAE |
| 430 | 440 | 450 | 460 | ||
| CIRWSYGAGV | VLRLGNIARL | ELNYCIPMGV | QGGDRICDGV | QFGAGIRFL |