| Identification |
|---|
| HMDB Protein ID
| CDBP00258 |
| Secondary Accession Numbers
| Not Available |
| Name
| Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating |
| Description
| Not Available |
| Synonyms
|
- Protein H105e3
|
| Gene Name
| NSDHL |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| Specific Function
| Not Available |
| GO Classification
|
| Biological Process |
| cholesterol biosynthetic process |
| labyrinthine layer blood vessel development |
| smoothened signaling pathway |
| hair follicle development |
| Cellular Component |
| endoplasmic reticulum membrane |
| lipid particle |
| integral to membrane |
| Function |
| binding |
| catalytic activity |
| oxidoreductase activity |
| steroid dehydrogenase activity |
| steroid dehydrogenase activity, acting on the ch-oh group of donors, nad or nadp as acceptor |
| 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| Molecular Function |
| sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity |
| 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| nucleotide binding |
| Process |
| metabolic process |
| primary metabolic process |
| lipid metabolic process |
| steroid metabolic process |
| steroid biosynthetic process |
|
| Cellular Location
|
- Membrane
- Single-pass membrane protein (Potential)
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | zymosterol biosynthesis | Not Available | Not Available | | Steroid Biosynthesis |    |  | | Smith-Lemli-Opitz Syndrome (SLOS) |    | Not Available | | CHILD Syndrome |    | Not Available | | Desmosterolosis |    | Not Available |
|
| Gene Properties |
|---|
| Chromosome Location
| X |
| Locus
| Xq28 |
| SNPs
| NSDHL |
| Gene Sequence
|
>1122 bp
ATGGAACCAGCAGTTAGCGAGCCAATGAGAGACCAAGTCGCACGGACTCATTTGACAGAG
GACACTCCCAAAGTGAATGCTGACATAGAAAAGGTTAACCAGAATCAGGCCAAGAGATGC
ACAGTGATCGGTGGCTCTGGATTCCTGGGGCAGCACATGGTGGAGCAGTTGCTGGCAAGA
GGATATGCTGTCAATGTATTTGATATCCAGCAAGGGTTTGATAATCCCCAGGTGCGGTTC
TTTCTGGGTGACCTCTGCAGCCGACAGGATCTGTACCCAGCTCTGAAAGGTGTAAACACA
GTTTTCCACTGTGCGTCACCCCCACCATCCAGTAACAACAAGGAGCTCTTTTATAGAGTG
AATTACATTGGCACCAAGAATGTCATTGAAACTTGCAAAGAGGCTGGGGTTCAGAAACTC
ATTTTAACCAGCAGTGCCAGTGTCATCTTTGAGGGCGTCGATATCAAGAATGGAACTGAA
GACCTTCCCTATGCCATGAAACCCATTGACTACTACACAGAGACTAAGATCTTACAGGAG
AGGGCAGTTCTGGGCGCCAACGATCCTGAGAAGAATTTCTTAACCACAGCCATCCGCCCT
CATGGCATTTTCGGCCCAAGGGACCCGCAGTTGGTACCCATCCTCATCGAGGCAGCCAGG
AACGGCAAGATGAAGTTCGTGATTGGAAATGGGAAGAACTTGGTGGACTTCACCTTTGTG
GAGAACGTGGTCCATGGACACATCCTGGCGGCAGAGCAGCTCTCCCGAGACTCGACACTG
GGTGGGAAGGCATTTCACATCACCAATGATGAGCCCATCCCTTTCTGGACATTCCTGTCT
CGCATCCTGACAGGCCTCAATTATGAGGCCCCCAAGTACCACATCCCCTACTGGGTGGCC
TACTACCTGGCCCTCCTGCTATCCCTGCTGGTGATGGTGATCAGTCCTGTCATCCAGCTG
CAGCCCACCTTCACACCCATGCGGGTCGCACTGGCTGGCACATTCCACTACTACAGCTGC
GAGAGAGCCAAAAAGGCCATGGGCTACCAGCCACTAGTGACCATGGATGATGCTATGGAG
AGGACCGTGCAGAGCTTTCGCCACCTGCGGAGGGTCAAGTGA
|
| Protein Properties |
|---|
| Number of Residues
| 373 |
| Molecular Weight
| 41899.99 |
| Theoretical pI
| 8.062 |
| Pfam Domain Function
|
|
| Signals
|
Not Available
|
|
Transmembrane Regions
|
Not Available
|
| Protein Sequence
|
>Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR
GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV
NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE
RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME
RTVQSFRHLRRVK
|
| External Links |
|---|
| GenBank ID Protein
| Not Available |
| UniProtKB/Swiss-Prot ID
| Q15738 |
| UniProtKB/Swiss-Prot Entry Name
| NSDHL_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| U47105 |
| GeneCard ID
| NSDHL |
| GenAtlas ID
| NSDHL |
| HGNC ID
| HGNC:13398 |
| References |
|---|
| General References
| Not Available |