| Tag | Content |
|---|---|
| Uniprot ID | O88455 |
| Entrez ID | 13360 |
| Genbank protein ID | AAC40164.1; AAH06854.1; |
| Genbank nucleotide ID | XM_006508480.2; NM_007856.2; XM_006508478.1; XM_006508481.2; XM_006508479.3; |
| Ensembl protein ID | ENSMUSP00000117659; ENSMUSP00000121782; ENSMUSP00000073541; |
| Ensembl nucleotide ID | ENSMUSG00000058454 |
| Gene name | 7-dehydrocholesterol reductase |
| Gene symbol | Dhcr7 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 11230174 |
| Functional description | Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC). |
| Sequence | MASKSQHNAP KVKSPNGKAG SQGQWGRAWE VDWFSLASII FLLLFAPFIV YYFIMACDQY 60 SCSLTAPALD IATGHASLAD IWAKTPPVTA KAAQLYALWV SFQVLLYSWL PDFCHRFLPG 120 YVGGVQEGAI TPAGVVNKYE VNGLQAWLIT HILWFVNAYL LSWFSPTIIF DNWIPLLWCA 180 NILGYAVSTF AMIKGYLFPT SAEDCKFTGN FFYNYMMGIE FNPRIGKWFD FKLFFNGRPG 240 IVAWTLINLS FAAKQQELYG HVTNSMILVN VLQAIYVLDF FWNETWYLKT IDICHDHFGW 300 YLGWGDCVWL PYLYTLQGLY LVYHPVQLST PNALGILLLG LVGYYIFRMT NHQKDLFRRT 360 DGRCLIWGKK PKAIECSYTS ADGLKHHSKL LVSGFWGVAR HFNYTGDLMG SLAYCLACGG 420 GHLLPYFYII YMTILLTHRC LRDEHRCANK YGRDWERYTA AVPYRLLPGI F 471 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | DHCR7 | 483675 | E2RNQ5 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | DHCR7 | A0A452EN40 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | DHCR7 | F6TQP5 | Equus caballus | Prediction | More>> | |||
| 1:1 ortholog | DHCR7 | 1717 | Q9UBM7 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Dhcr7 | 13360 | O88455 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | DHCR7 | 451393 | H2R2E7 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | DHCR7 | I3LKI5 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Dhcr7 | 64191 | Q9Z2Z8 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | dhcr7 | F1QKG5 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0009918 | sterol delta7 reductase activity | IBA |
| GO:0016627 | oxidoreductase activity, acting on the CH-CH group of donors | IBA |
| GO:0047598 | 7-dehydrocholesterol reductase activity | ISO |
| GO:0047598 | 7-dehydrocholesterol reductase activity | IDA |
| GO:0047598 | 7-dehydrocholesterol reductase activity | IBA |
| GO:0050661 | NADP binding | ISS |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001568 | blood vessel development | IMP |
| GO:0006695 | cholesterol biosynthetic process | IEA |
| GO:0006695 | cholesterol biosynthetic process | ISO |
| GO:0006695 | cholesterol biosynthetic process | IBA |
| GO:0009791 | post-embryonic development | IMP |
| GO:0016126 | sterol biosynthetic process | IMP |
| GO:0016126 | sterol biosynthetic process | IBA |
| GO:0016132 | brassinosteroid biosynthetic process | IBA |
| GO:0030154 | cell differentiation | IMP |
| GO:0030324 | lung development | IMP |
| GO:0035264 | multicellular organism growth | IMP |
| GO:0042127 | regulation of cell population proliferation | IMP |
| GO:0045540 | regulation of cholesterol biosynthetic process | ISO |
| GO:0055114 | oxidation-reduction process | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005640 | nuclear outer membrane | ISO |
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005829 | cytosol | ISO |
| GO:0030176 | integral component of endoplasmic reticulum membrane | IBA |
| GO:0043231 | intracellular membrane-bounded organelle | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1430728 | Metabolism | IEA |
| R-MMU-191273 | Cholesterol biosynthesis | IEA |
| R-MMU-556833 | Metabolism of lipids | IEA |
| R-MMU-6807047 | Cholesterol biosynthesis via desmosterol | IEA |
| R-MMU-6807062 | Cholesterol biosynthesis via lathosterol | IEA |
| R-MMU-8957322 | Metabolism of steroids | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0152 | Cholesterol biosynthesis |
| KW-0153 | Cholesterol metabolism |
| KW-0256 | Endoplasmic reticulum |
| KW-0444 | Lipid biosynthesis |
| KW-0443 | Lipid metabolism |
| KW-0472 | Membrane |
| KW-0521 | NADP |
| KW-0560 | Oxidoreductase |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0752 | Steroid biosynthesis |
| KW-0753 | Steroid metabolism |
| KW-0756 | Sterol biosynthesis |
| KW-1207 | Sterol metabolism |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |
| Pfam ID | Pfam Term |
|---|---|
| PF01222 | ERG4_ERG24 |