• Gene id: 50814

Gene Summary

• Gene Symbol: NSDHL   Gene   UCSC   Ensembl
• Aliases: H105E3, SDR31E1, XAP104
• Gene name: NAD(P) dependent steroid dehydrogenase-like
• Alternate names: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating, epididymis secretory sperm binding protein, protein H105e3, short chain dehydrogenase/reductase family 31E, member 1,
• Gene location: Xq28 (50958817: 50963928)     Exons: 1     NC_000020.11
• Gene summary(Entrez): 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 cho
• OMIM: 300275

Protein Summary

• Protein general information: Q15738  
  • Name: Sterol 4 alpha carboxylate 3 dehydrogenase, decarboxylating (EC 1.1.1.170) (Protein H105e3)
  • Length: 373  
  • Mass: 41900
  • Tissue specificity: Brain, heart, liver, lung, kidney, skin and placenta.
• Sequence:

  MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDN
  PQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIF
  EGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMK
  FVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
  YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK

• Structural information:
  • Interpro: IPR002225  IPR036291  
  • STRING: ENSP00000359297
• Other Databases: GeneCards:  NSDHL  Malacards:  NSDHL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0016491	oxidoreductase activity	IBA	molecular function
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	molecular function
GO:0005811	lipid droplet	IDA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA	molecular function
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	TAS	molecular function
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0103067	4alpha-carboxy-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0000252	C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity	IEA	molecular function
GO:0047012	sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	IEA	molecular function
GO:0103066	4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity	IEA	molecular function
GO:0000252	C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity	TAS	molecular function
GO:0000252	C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Congenital hemidysplasia with ichthyosiform nevus and limb defects	KEGG:H00496
CK syndrome	KEGG:H01917
Congenital hemidysplasia with ichthyosiform nevus and limb defects	KEGG:H00496
CK syndrome	KEGG:H01917
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881