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NSDHL

GENERAL INFORMATION

Gene name

 NSDHL

Gene description

 NAD(P) dependent steroid dehydrogenase-like

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

 Intracellular,Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in all tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA000248 , HPA000571
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable), liver cancer (unfavourable) and cervical cancer (favourable).
Renal cancer p<0.001
Liver cancer p<0.001
Cervical cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Testis cancer

STAINING SUMMARY
HPA000248
HPA000571

GENE INFORMATION

Gene name

 NSDHL (HGNC Symbol)

Synonyms

 H105e3, SDR31E1, XAP104

Description

 NAD(P) dependent steroid dehydrogenase-like (HGNC Symbol)

Entrez gene 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]

Chromosome

 X

Cytoband

 q28

Chromosome location (bp)

 152830967 - 152869729

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000147383 (version 83.38)

Entrez gene

 50814

UniProt

 Q15738 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15738

Antibodypedia

 NSDHL antibodies

PROTEIN BROWSER
NSDHL-001
NSDHL-002
NSDHL-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NSDHL-001
ENSP00000359297
ENST00000370274
Q15738 [Direct mapping]
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0001942 [hair follicle development]
GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid particle]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0007224 [smoothened signaling pathway]
GO:0008203 [cholesterol metabolic process]
GO:0016021 [integral component of membrane]
GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044281 [small molecule metabolic process]
GO:0047012 [sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity]
GO:0055114 [oxidation-reduction process]
GO:0060716 [labyrinthine layer blood vessel development]
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 373 aa
41.9 kDa 		No 1
NSDHL-002
ENSP00000396266
ENST00000432467
C9JDR0 [Direct mapping]
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity]
GO:0005783 [endoplasmic reticulum]
GO:0006694 [steroid biosynthetic process]
GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0055114 [oxidation-reduction process]
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 254 aa
28.1 kDa 		No 0
NSDHL-201
ENSP00000391854
ENST00000440023
Q15738 [Direct mapping]
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Show all
Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003854 [3-beta-hydroxy-delta5-steroid dehydrogenase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid particle]
GO:0006694 [steroid biosynthetic process]
GO:0006695 [cholesterol biosynthetic process]
GO:0016021 [integral component of membrane]
GO:0016616 [oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0044281 [small molecule metabolic process]
GO:0047012 [sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity]
GO:0055114 [oxidation-reduction process]
Show all
 373 aa
41.9 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.