Tissue expression of NSDHL - Summary - The Human Protein Atlas

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NSDHL

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TISSUE

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CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in all tissues.

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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 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: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] Show all	373 aa 41.9 kDa	No	1
NSDHL-002 ENSP00000396266 ENST00000432467	C9JDR0 [Direct mapping] Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating Show all	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] Show all	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

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The Project

The Human Protein Atlas

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