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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

HGNC:13398

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 5** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process
labyrinthine layer blood vessel development	IEA
hair follicle development	IEA
smoothened signaling pathway	IEA
cholesterol metabolic process	IBA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

multicellular organismal process [inference]

molting cycle process [inference]

hair cycle process [inference]

hair follicle development

developmental process [inference]

anatomical structure development [inference]

blood vessel development [inference]

placenta blood vessel development [inference]

labyrinthine layer blood vessel development

hair follicle development

animal organ development [inference]

embryonic organ development [inference]

labyrinthine layer blood vessel development

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

smoothened signaling pathway

Displaying **all 3** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IBA IDA
lipid droplet	IDA	14741744 21498505
endoplasmic reticulum membrane

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular non-membrane-bounded organelle [inference]

lipid droplet

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
4alpha-carboxy-4beta-methyl-5alpha-cholesta-8-en-3beta-ol:NAD(P)+ 3-oxidoreductase (decarboxylating) activity	IEA
sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	IEA
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity	IEA
3-beta-hydroxy-delta5-steroid dehydrogenase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

steroid dehydrogenase activity [inference]

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

3-beta-hydroxy-delta5-steroid dehydrogenase activity

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor

C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity

steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

3-beta-hydroxy-delta5-steroid dehydrogenase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000147383

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

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K07748

Name

sterol-4alpha-carboxylate 3-dehydrogenase (decarboxylating) [EC:1.1.1.170]

References

Rhea

RHEA:33447

NADP⁺ + 4β-methylzymosterol-4α-carboxylate

CO₂ + 3-dehydro-4-methylzymosterol + NADPH

Enzyme

1.1.1.170

PMID

RHEA:34771

a 3β-hydroxysteroid-4α-carboxylate + NADP⁺

CO₂ + a 3-oxosteroid + NADPH

Enzyme

1.1.1.170

PMID

RHEA:34775

a 3β-hydroxysteroid-4α-carboxylate + NAD⁺

CO₂ + a 3-oxosteroid + NADH

Enzyme

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 57 in total

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DO ID	Disease Name	Source
DOID:0050453	lissencephaly	DisGeNET
DOID:0050777	Joubert syndrome	DisGeNET
DOID:0060249	scoliosis	DisGeNET DisGeNET
DOID:0060270	pontocerebellar hypoplasia type 2D	DisGeNET
DOID:0060276	pontocerebellar hypoplasia type 7	DisGeNET
DOID:0060277	pontocerebellar hypoplasia type 8	DisGeNET
DOID:0060278	pontocerebellar hypoplasia type 9	DisGeNET
DOID:0060292	X-linked chondrodysplasia punctata 1	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060293	autosomal dominant chondrodysplasia punctata	DisGeNET DisGeNET
DOID:0060321	umbilical hernia	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 88 in total

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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

PubChem Disease

GHR Health Conditions

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP006706
Gene Name: NAD(P) dependent steroid dehydrogenase-like

Ortholog

Displaying entries **1 - 10** of 86 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	189371	WB:WBGene00012394
Caenorhabditis elegans	191049	WB:WBGene00022498
Caenorhabditis elegans	260026	WB:WBGene00022616
Latimeria chalumnae	102355835		LATCH14418
Danio rerio	550369	ZFIN:ZDB-GENE-050417-163	DANRE07443
Astyanax mexicanus	103027604		ASTMX01180
Ictalurus punctatus	108268902		ICTPU33695
Electrophorus electricus	113576547		ELEEL20012
Salmo salar	106604248		SALSA122499
Salmo salar	106612199		SALSA144080

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements