NSDHL

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in all tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA000248 , HPA000571
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Epididymis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

50814

UniProt

Q15738 (UniProt - Evidence at protein level)

neXtProt

NX_Q15738

Antibodypedia

NSDHL antibodies


PROTEIN BROWSER

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ENST00000370274
 
ENST00000432467
 
ENST00000440023
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NSDHL-001 ENSP00000359297
ENST00000370274
Q15738
Show all »
Show » Show » 373 41.9 No 1
NSDHL-002 ENSP00000396266
ENST00000432467
C9JDR0
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Show » Show » 254 28.1 No 0
NSDHL-201 ENSP00000391854
ENST00000440023
Q15738
Show all »
Show » Show » 373 41.9 No 1