| Tag | Content |
|---|---|
| Uniprot ID | Q8BSY0; Q9EPA6; Q9EQ64; |
| Entrez ID | 65973 |
| Genbank protein ID | AAG40809.1; AAG40812.1; BAC26882.1; AAN87549.1; AAI52366.1; AAI28300.1; AAK00614.1; AAG40808.1; |
| Genbank nucleotide ID | NM_001177853.1; NM_001177850.1; NM_001177855.1; NM_001177854.1; NM_001290367.1; NM_023066.3; NM_001177852.1; |
| Ensembl protein ID | ENSMUSP00000077273 |
| Ensembl nucleotide ID | ENSMUSG00000028207 |
| Gene name | Aspartyl/asparaginyl beta-hydroxylase |
| Gene symbol | Asph |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 11773073 |
| Functional description | Isoform 1.specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. |
| Sequence | MAPRKNAKGG GGNSSSSGSG SGSGSGSPST GSSGSSSSPG ARREAKHGGH KNGRRGGISG 60 GSFFTWFMVI ALLGVWTSVA VVWFDLVDYE EVLGKLGVYD ADGDGDFDVD DAKVLLGLKE 120 RSPSERTFPP EEEAETHAEL EEQAPEGADI QNVEDEVKEQ IQSLLQESVH TDHDLEADGL 180 AGEPQPEVED FLTVTDSDDR FEDLEPGTVH EEIEDTYHVE DTASQNHPND MEEMTNEQEN 240 SDPSEAVTDA GVLLPHAEEV RHQDYDEPVY EPSEHEGVAI SDNTIDDSSI ISEEINVASV 300 EEQQDTPPVK KKKPKLLNKF DKTIKAELDA AEKLRKRGKI EEAVNAFEEL VRKYPQSPRA 360 RYGKAQCEDD LAEKQRSNEV LRRAIETYQE AADLPDAPTD LVKLSLKRRS ERQQFLGHMR 420 GSLLTLQRLV QLFPSDTTLK NDLGVGYLLL GDNDSAKKVY EEVLNVTPND GFAKVHYGFI 480 LKAQNKISES IPYLKEGIES GDPGTDDGRF YFHLGDAMQR VGNKEAYKWY ELGHKRGHFA 540 SVWQRSLYNV NGLKAQPWWT PRETGYTELV KSLERNWKLI RDEGLMVMDK AKGLFLPEDE 600 NLREKGDWSQ FTLWQQGRKN ENACKGAPKT CALLEKFSET TGCRRGQIKY SIMHPGTHVW 660 PHTGPTNCRL RMHLGLVIPK EGCKIRCANE TRTWEEGKVL IFDDSFEHEV WQDASSFRLI 720 FIVDVWHPEL TPQQRRSLPA I 741 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004597 | peptide-aspartate beta-dioxygenase activity | ISS |
| GO:0005509 | calcium ion binding | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0062101 | peptidyl-aspartic acid 3-dioxygenase activity | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0007389 | pattern specification process | IMP |
| GO:0008285 | negative regulation of cell population proliferation | IGI |
| GO:0010524 | positive regulation of calcium ion transport into cytosol | ISO |
| GO:0031585 | regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | ISO |
| GO:0031647 | regulation of protein stability | IDA |
| GO:0032237 | activation of store-operated calcium channel activity | ISO |
| GO:0033198 | response to ATP | ISO |
| GO:0035108 | limb morphogenesis | IMP |
| GO:0042264 | peptidyl-aspartic acid hydroxylation | IDA |
| GO:0045862 | positive regulation of proteolysis | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0051480 | regulation of cytosolic calcium ion concentration | ISO |
| GO:0055074 | calcium ion homeostasis | ISO |
| GO:0055114 | oxidation-reduction process | IEA |
| GO:0060021 | roof of mouth development | IMP |
| GO:0060325 | face morphogenesis | IMP |
| GO:0070588 | calcium ion transmembrane transport | ISO |
| GO:0071277 | cellular response to calcium ion | ISO |
| GO:0090316 | positive regulation of intracellular protein transport | ISO |
| GO:0097202 | activation of cysteine-type endopeptidase activity | ISO |
| GO:1901879 | regulation of protein depolymerization | IDA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005623 | cell | IEA |
| GO:0005737 | cytoplasm | IDA |
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005886 | plasma membrane | ISO |
| GO:0016021 | integral component of membrane | ISS |
| GO:0030176 | integral component of endoplasmic reticulum membrane | ISO |
| GO:0032541 | cortical endoplasmic reticulum | ISO |
| GO:0033017 | sarcoplasmic reticulum membrane | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-2672351 | Stimuli-sensing channels | IEA |
| R-MMU-382551 | Transport of small molecules | IEA |
| R-MMU-397014 | Muscle contraction | IEA |
| R-MMU-5576891 | Cardiac conduction | IEA |
| R-MMU-5578775 | Ion homeostasis | IEA |
| R-MMU-983712 | Ion channel transport | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0025 | Alternative splicing |
| KW-0106 | Calcium |
| KW-0223 | Dioxygenase |
| KW-1015 | Disulfide bond |
| KW-0256 | Endoplasmic reticulum |
| KW-0325 | Glycoprotein |
| KW-0408 | Iron |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0560 | Oxidoreductase |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0703 | Sarcoplasmic reticulum |
| KW-0735 | Signal-anchor |
| KW-0802 | TPR repeat |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |