NAD(P) dependent steroid dehydrogenase-like

Summary
Gene Symbol
  • NSDHL
Aliases
  • H105e3
  • SDR31E1
  • XAP104
  • short chain dehydrogenase/reductase family 31E, member 1
Organism
Homo sapiens (human)
External Links
NCBI Gene
50814
HGNC
13398
KEGG Gene ID
hsa:50814
PubChem
50814
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cholesterol biosynthesis
  • Disease variant
  • Endoplasmic reticulum
  • Ichthyosis
  • Intellectual disability
  • Lipid droplet
  • NAD
  • Oxidoreductase
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A384NPZ7
Q15738
  • Protein H105e3
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000147383

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K07748
Name
sterol-4alpha-carboxylate 3-dehydrogenase (decarboxylating) [EC:1.1.1.170]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 57 in total
DO ID Disease Name Source
DOID:0050453 lissencephaly
DOID:0050777 Joubert syndrome
DOID:0060249 scoliosis
DOID:0060270 pontocerebellar hypoplasia type 2D
DOID:0060276 pontocerebellar hypoplasia type 7
DOID:0060277 pontocerebellar hypoplasia type 8
DOID:0060278 pontocerebellar hypoplasia type 9
DOID:0060292 X-linked chondrodysplasia punctata 1
DOID:0060293 autosomal dominant chondrodysplasia punctata
DOID:0060321 umbilical hernia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 88 in total
HPO ID HPO Term
HP:0000122 Unilateral renal agenesis
HP:0000126 Hydronephrosis
HP:0000204 Cleft upper lip
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000272 Malar flattening
HP:0000275 Narrow face
HP:0000276 Long face
HP:0000278 Retrognathia
HP:0000286 Epicanthus
Displaying all 3 entries
Disease ID Disease Name
OMIM:300831
  • CK syndrome
OMIM:308050
  • CHILD syndrome
ORPHA:251383
  • CK syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP006706
Gene Name
NAD(P) dependent steroid dehydrogenase-like

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024