| Identification |
|---|
| HMDB Protein ID
| CDBP00256 |
| Secondary Accession Numbers
| Not Available |
| Name
| Delta(14)-sterol reductase |
| Description
| Not Available |
| Synonyms
|
- Another new gene 1 protein
- C-14 sterol reductase
- Delta-14-SR
- Putative sterol reductase SR-1
- Sterol C14-reductase
- Transmembrane 7 superfamily member 2
|
| Gene Name
| TM7SF2 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in delta14-sterol reductase activity |
| Specific Function
| Involved in the conversion of lanosterol to cholesterol.
|
| GO Classification
|
| Biological Process |
| cholesterol biosynthetic process |
| Cellular Component |
| endoplasmic reticulum membrane |
| integral to plasma membrane |
| Component |
| membrane |
| cell part |
| Molecular Function |
| delta14-sterol reductase activity |
|
| Cellular Location
|
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Steroid Biosynthesis |    |  | | Smith-Lemli-Opitz Syndrome (SLOS) |    | Not Available | | CHILD Syndrome |    | Not Available | | Desmosterolosis |    | Not Available | | Chondrodysplasia Punctata II, X Linked Dominant (CDPX2) |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| 11 |
| Locus
| 11q13 |
| SNPs
| TM7SF2 |
| Gene Sequence
|
>1257 bp
ATGGCCCCCACTCAGGGCCCCCGGGCCCCGCTGGAATTCGGAGGGCCCCTGGGCGCCGCG
GCTCTGCTACTGCTGCTGCCCGCCACCATGTTCCACCTGCTCCTGGCGGCCCGTTCGGGC
CCCGCGCGCCTGCTGGGTCCACCCGCGTCCCTGCCCGGGCTGGAGGTGCTGTGGAGCCCA
CGGGCGCTGCTGCTGTGGCTCGCCTGGCTCGGCCTGCAGGCGGCGCTCTACCTACTGCCG
GCGCGCAAGGTGGCCGAGGGGCAGGAATTGAAGGACAAGAGTCGCCTGCGCTATCCTATT
AACGGCTTCCAGGCCCTGGTGCTGACAGCCCTGTTGGTGGGGCTGGGGATGTCAGCGGGG
CTGCCTCTGGGGGCGCTCCCGGAAATGCTCCTGCCCTTGGCGTTTGTCGCCACCCTCACC
GCTTTCATCTTCAGCCTCTTTCTCTACATGAAGGCGCAGGTAGCCCCAGTTTCGGCCCTG
GCACCTGGGGGGAACTCAGGCAATCCGATTTACGACTTTTTTCTGGGACGAGAGCTCAAC
CCTCGTATCTGTTTCTTCGACTTCAAATATTTCTGTGAACTGCGACCCGGCCTCATCGGC
TGGGTCCTCATCAACCTGGCCCTGTTGATGAAGGAGGCAGAGCTTCGAGGCAGTCCCTCA
CTGGCCATGTGGCTGGTCAATGGCTTCCAGTTGCTCTACGTGGGTGATGCCCTCTGGCAC
GAGGAGGCCGTCCTCACCACCATGGATATCACACATGACGGGTTTGGCTTCATGCTGGCG
TTTGGGGACATGGCCTGGGTGCCCTTCACCTACAGCCTGCAGGCCCAGTTCCTGCTGCAC
CACCCGCAGCCCCTGGGGTTGCCCATGGCCTCTGTCATCTGCCTCATCAATGCTACTGGT
TACTACATCTTCCGTGGGGCGAATTCCCAGAAAAACACTTTCCGAAAGAATCCTTCTGAC
CCCAGAGTGGCTGGGCTTGAGACCATCTCTACAGCCACAGGGCGGAAACTGCTGGTGTCT
GGGTGGTGGGGTATGGTCCGCCATCCCAACTATCTTGGAGACCTCATCATGGCTCTGGCT
TGGTCCTTGCCCTGCGGGGTGTCACACCTGCTGCCCTACTTCTACCTCCTCTACTTCACC
GCGCTGCTGGTGCACCGTGAGGCCCGGGATGAGCGGCAGTGCCTGCAGAAGTACGGCCTG
GCCTGGCAGGAGTACTGCCGGCGTGTGCCTTACCGCATCATGCCCTACATCTACTGA
|
| Protein Properties |
|---|
| Number of Residues
| 418 |
| Molecular Weight
| 46405.345 |
| Theoretical pI
| 8.87 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Delta(14)-sterol reductase
MAPTQGPRAPLEFGGPLGAAALLLLLPATMFHLLLAARSGPARLLGPPASLPGLEVLWSP
RALLLWLAWLGLQAALYLLPARKVAEGQELKDKSRLRYPINGFQALVLTALLVGLGMSAG
LPLGALPEMLLPLAFVATLTAFIFSLFLYMKAQVAPVSALAPGGNSGNPIYDFFLGRELN
PRICFFDFKYFCELRPGLIGWVLINLALLMKEAELRGSPSLAMWLVNGFQLLYVGDALWH
EEAVLTTMDITHDGFGFMLAFGDMAWVPFTYSLQAQFLLHHPQPLGLPMASVICLINATG
YYIFRGANSQKNTFRKNPSDPRVAGLETISTATGRKLLVSGWWGMVRHPNYLGDLIMALA
WSLPCGVSHLLPYFYLLYFTALLVHREARDERQCLQKYGLAWQEYCRRVPYRIMPYIY
|
| External Links |
|---|
| GenBank ID Protein
| 117414150 |
| UniProtKB/Swiss-Prot ID
| O76062 |
| UniProtKB/Swiss-Prot Entry Name
| ERG24_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_003273.2 |
| GeneCard ID
| TM7SF2 |
| GenAtlas ID
| TM7SF2 |
| HGNC ID
| HGNC:11863 |
| References |
|---|
| General References
| Not Available |