Gene/Proteome Database (LMPD)
LMPD ID
LMP006706
Gene ID
Species
Homo sapiens (Human)
Gene Name
NAD(P) dependent steroid dehydrogenase-like
Gene Symbol
Synonyms
H105E3; SDR31E1; XAP104
Alternate Names
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; protein H105e3; short chain dehydrogenase/reductase family 31E, member 1
Chromosome
X
Map Location
Xq28
EC Number
1.1.1.170
Summary
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating | |
|---|---|
| Refseq ID | NP_001123237 |
| Protein GI | 193211614 |
| UniProt ID | Q15738 |
| mRNA ID | NM_001129765 |
| Length | 373 |
| RefSeq Status | REVIEWED |
| MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK | |
Gene Information
Entrez Gene ID
Gene Name
NAD(P) dependent steroid dehydrogenase-like
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005783 | IDA:LIFEdb | C | endoplasmic reticulum |
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0043231 | IDA:HPA | C | intracellular membrane-bounded organelle |
| GO:0005811 | IDA:UniProtKB | C | lipid particle |
| GO:0003854 | TAS:ProtInc | F | 3-beta-hydroxy-delta5-steroid dehydrogenase activity |
| GO:0047012 | IEA:UniProtKB-EC | F | sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity |
| GO:0006695 | TAS:Reactome | P | cholesterol biosynthetic process |
| GO:0001942 | IEA:Ensembl | P | hair follicle development |
| GO:0060716 | IEA:Ensembl | P | labyrinthine layer blood vessel development |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0007224 | IEA:Ensembl | P | smoothened signaling pathway |
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY-6074 | zymosterol biosynthesis |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_9405 | Cholesterol biosynthesis |
Domain Information
UniProt Annotations
Entry Information
Gene Name
NAD(P) dependent steroid dehydrogenase-like
Protein Entry
NSDHL_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) = a 3-oxosteroid + CO(2) + NAD(P)H. |
| Disease | CK syndrome (CKS) [MIM |
| Disease | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM |
| Function | Involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. |
| Pathway | Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6. |
| Similarity | Belongs to the 3-beta-HSD family. |
| Subcellular Location | Endoplasmic reticulum membrane ; Single-pass membrane protein . Lipid droplet . Note=Trafficking through the Golgi is necessary for ER membrane localization. |
| Tissue Specificity | Brain, heart, liver, lung, kidney, skin and placenta. |
Identical and Related Proteins
Unique RefSeq proteins for LMP006706 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 193211614 | RefSeq | NP_001123237 | 373 | sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating |
Identical Sequences to LMP006706 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:193211614 | DBBJ | BAI46989.1 | 373 | NAD(P) dependent steroid dehydrogenase-like protein, partial [synthetic construct] |
| GI:193211614 | GenBank | EAW72899.1 | 373 | NAD(P) dependent steroid dehydrogenase-like, isoform CRA_b [Homo sapiens] |
| GI:193211614 | GenBank | ABM83414.1 | 373 | NAD(P) dependent steroid dehydrogenase-like [synthetic construct] |
| GI:193211614 | GenBank | ABM86625.1 | 373 | NAD(P) dependent steroid dehydrogenase-like, partial [synthetic construct] |
| GI:193211614 | GenBank | AIC56346.1 | 373 | NSDHL, partial [synthetic construct] |
| GI:193211614 | RefSeq | XP_006724887.1 | 373 | PREDICTED: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1 [Homo sapiens] |
Related Sequences to LMP006706 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:193211614 | GenBank | ACM85046.1 | 437 | Sequence 10544 from patent US 6812339 |
| GI:193211614 | GenBank | JAA07404.1 | 373 | NAD(P) dependent steroid dehydrogenase-like [Pan troglodytes] |
| GI:193211614 | GenBank | JAA20397.1 | 373 | NAD(P) dependent steroid dehydrogenase-like [Pan troglodytes] |
| GI:193211614 | GenBank | JAA20398.1 | 373 | NAD(P) dependent steroid dehydrogenase-like [Pan troglodytes] |
| GI:193211614 | GenBank | JAA31944.1 | 373 | NAD(P) dependent steroid dehydrogenase-like [Pan troglodytes] |
| GI:193211614 | GenBank | JAA42004.1 | 373 | NAD(P) dependent steroid dehydrogenase-like [Pan troglodytes] |