Q5MPP0
PR
Gene name |
Fa2h |
Protein name |
Fatty acid 2-hydroxylase |
Names |
Fatty acid alpha-hydroxylase |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:338521 |
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 Q5MPP0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5MPP0-F1 | Predicted | AlphaFoldDB |
26 variants for Q5MPP0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs212386464 | 31 | A>T | No | EVA | |
| rs3399716753 | 46 | G>R | No | EVA | |
| rs3399602246 | 49 | L>Q | No | EVA | |
| rs222671142 | 94 | E>G | No | EVA | |
| 103 | T>I | strain: C57BL/6J [UniProt] | No | ||
| rs3388963680 | 191 | L>P | No | EVA | |
| rs3389005999 | 193 | Q>* | No | EVA | |
| rs3389006010 | 193 | Q>H | No | EVA | |
| rs3389007140 | 193 | Q>L | No | EVA | |
| rs3388982856 | 194 | D>H | No | EVA | |
| rs3389007172 | 195 | N>H | No | EVA | |
| rs3389010262 | 199 | F>I | No | EVA | |
| rs3388999213 | 199 | F>Y | No | EVA | |
| rs3389013126 | 206 | Y>* | No | EVA | |
| rs255692121 | 228 | F>L | No | EVA | |
| rs3389014373 | 246 | S>R | No | EVA | |
| rs3389014085 | 254 | F>L | No | EVA | |
| rs3389007137 | 287 | F>I | No | EVA | |
| rs3389014329 | 290 | L>H | No | EVA | |
| rs3389010246 | 294 | E>V | No | EVA | |
| rs3388993292 | 295 | T>SDG* | No | EVA | |
| rs3389010728 | 296 | V>A | No | EVA | |
| rs3389006002 | 315 | H>Q | No | EVA | |
| rs3388999212 | 319 | H>Q | No | EVA | |
| 348 | F>L | strain: C57BL/6J [UniProt] | No | ||
| 354 | L>P | strain: C57BL/6J [UniProt] | No |
No associated diseases with Q5MPP0
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| fatty acid alpha-hydroxylase activity | Catalysis of the conversion of a fatty acid to an alpha-hydroxylated fatty acid. A hydroxyl group is added to the second carbon, counted from the carboxyl end, of a fatty acid chain. |
| heme binding | Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring. |
| iron ion binding | Binding to an iron (Fe) ion. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| central nervous system myelin maintenance | The process in which the structure and material content of mature central nervous system myelin is kept in a functional state. |
| ceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of ceramides, any N-acylated sphingoid. |
| establishment of skin barrier | Establishment of the epithelial barrier, the functional barrier in the skin that limits its permeability. |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| galactosylceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of galactosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of galactose by a ceramide group. |
| glucosylceramide biosynthetic process | The chemical reactions and pathways resulting in the formation of glucosylceramides, any compound formed by the replacement of the glycosidic hydroxyl group of a cyclic form of glucose by a ceramide group. |
| lipid modification | The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. |
| peripheral nervous system myelin maintenance | The process in which the structure and material content of mature peripheral nervous system myelin is kept in a functional state. |
| plasma membrane raft organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of plasma membrane rafts. |
| regulation of acinar cell proliferation | Any process that modulates the frequency, rate or extent of acinar cell proliferation. |
| regulation of hair cycle | Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. |
| regulation of sebum secreting cell proliferation | Any process that modulates the frequency, rate or extent of sebum secreting cell proliferation. |
| sebaceous gland cell differentiation | The process in which a relatively unspecialized epidermal cell acquires the specialized features of a sebaceous gland cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPAPPPAAS | FTPAEVQRRL | AAGACWVRRG | ASLYDLTSFV | RHHPGGEQLL | LARAGQDISA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLDGPPHRHS | DNARRWLEQY | YVGELRADPQ | DPTENGAVAS | AETQKTDPAL | EPQFKVVDWD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KDLVDWQKPL | LWQVGHLGEK | YDEWVHQPVA | RPIRLFHSDL | IEAFSKTVWY | SVPIIWVPLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LYLSWSYYRT | LTQDNIRLFA | SLTREYSMMM | PESVFIGLFV | LGMLFWTFVE | YVIHRFLFHM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KPPSNSHYLI | MLHFVMHGQH | HKAPFDGSRL | VFPPVPASLV | IAFFYVFLRL | ILPETVGGII |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FAGGLLGYVL | YDMTHYYLHF | GSPHKGSYLY | NMKAHHVKHH | FEYQKSGFGI | STKLWDYFFH |
| 370 | |||||
| TLIPEEAHPK | MQ |