Hmdb loader
Identification
HMDB Protein ID HMDBP00264
Secondary Accession Numbers
  • 5496
  • HMDBP05830
Name Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Synonyms
  1. Protein H105e3
Gene Name NSDHL
Protein Type Unknown
Biological Properties
General Function Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity
Specific Function Not Available
Pathways
  • Alendronate Action Pathway
  • Atorvastatin Action Pathway
  • Cerivastatin Action Pathway
  • CHILD Syndrome
  • Cholesteryl ester storage disease
  • Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
  • Desmosterolosis
  • Fluvastatin Action Pathway
  • Hyper-IgD syndrome
  • Hypercholesterolemia
  • Ibandronate Action Pathway
  • Lovastatin Action Pathway
  • Lysosomal Acid Lipase Deficiency (Wolman Disease)
  • Mevalonic aciduria
  • Pamidronate Action Pathway
  • Pravastatin Action Pathway
  • Risedronate Action Pathway
  • Rosuvastatin Action Pathway
  • Simvastatin Action Pathway
  • Smith-Lemli-Opitz Syndrome (SLOS)
  • Steroid biosynthesis
  • Steroid Biosynthesis
  • Wolman disease
  • Zoledronate Action Pathway
  • zymosterol biosynthesis
Reactions
A 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) → a 3-oxosteroid + CO(2) + NAD(P)H details
4a-Carboxy-4b-methyl-5a-cholesta-8,24-dien-3b-ol + NADP → 3-Keto-4-methylzymosterol + NADPH + Hydrogen Ion + Carbon dioxide details
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
  1. Membrane
  2. Single-pass membrane protein (Potential)
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
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
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Mallon AM, Platzer M, Bate R, Gloeckner G, Botcherby MR, Nordsiek G, Strivens MA, Kioschis P, Dangel A, Cunningham D, Straw RN, Weston P, Gilbert M, Fernando S, Goodall K, Hunter G, Greystrong JS, Clarke D, Kimberley C, Goerdes M, Blechschmidt K, Rump A, Hinzmann B, Mundy CR, Miller W, Poustka A, Herman GE, Rhodes M, Denny P, Rosenthal A, Brown SD: Comparative genome sequence analysis of the Bpa/Str region in mouse and Man. Genome Res. 2000 Jun;10(6):758-75. [PubMed:10854409 ]
  3. Levin ML, Chatterjee A, Pragliola A, Worley KC, Wehnert M, Zhuchenko O, Smith RF, Lee CC, Herman GE: A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Genome Res. 1996 Jun;6(6):465-77. [PubMed:8828036 ]
  4. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH: Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet. 2000 Feb 14;90(4):339-46. [PubMed:10710235 ]