Format

Send to:

Choose Destination

NSDHL NAD(P) dependent steroid dehydrogenase-like [ Homo sapiens (human) ]

Gene ID: 50814, updated on 5-Jan-2020

Summary

Official Symbol
NSDHLprovided by HGNC
Official Full Name
NAD(P) dependent steroid dehydrogenase-likeprovided by HGNC
Primary source
HGNC:HGNC:13398
See related
Ensembl:ENSG00000147383 MIM:300275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
H105E3; XAP104; SDR31E1
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]
Expression
Ubiquitous expression in esophagus (RPKM 14.3), adrenal (RPKM 14.0) and 25 other tissues See more
Orthologs

Genomic context

See NSDHL in Genome Data Viewer
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (152830967..152869729)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (151999511..152037907)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985638 Neighboring gene MAGE family member A4 pseudogene Neighboring gene centrin 2 Neighboring gene zinc finger protein 185 with LIM domain Neighboring gene uncharacterized LOC105373372 Neighboring gene PNMA family member 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Child syndrome
MedGen: C0265267 OMIM: 308050 GeneReviews: NSDHL-Related Disorders
Compare labs
NSDHL-Related Disorders
MedGen: C3151781 OMIM: 300831 GeneReviews: NSDHL-Related Disorders
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-09-25)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2019-09-25)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
labyrinthine layer blood vessel development IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
Names
epididymis secretory sperm binding protein
protein H105e3
short chain dehydrogenase/reductase family 31E, member 1
NP_001123237.1
NP_057006.1
XP_011529480.1
XP_016885053.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009163.2 RefSeqGene

    Range
    5001..43397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001129765.1NP_001123237.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

    See identical proteins and their annotated locations for NP_001123237.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an additional 5' non-coding exon, hence has a longer 5' UTR compared to variant 1. Transcript variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC007816, U47105, U82671
    Consensus CDS
    CCDS14717.1
    UniProtKB/Swiss-Prot
    Q15738
    Related
    ENSP00000391854.1, ENST00000440023.5
    Conserved Domains (1) summary
    cd09813
    Location:39366
    3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
  2. NM_015922.3NP_057006.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

    See identical proteins and their annotated locations for NP_057006.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the more predominant transcript. Transcript variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC007816, U47105, U82671
    Consensus CDS
    CCDS14717.1
    UniProtKB/Swiss-Prot
    Q15738
    Related
    ENSP00000359297.3, ENST00000370274.8
    Conserved Domains (1) summary
    cd09813
    Location:39366
    3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    152830967..152869729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531178.2XP_011529480.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X2

    See identical proteins and their annotated locations for XP_011529480.1

    UniProtKB/Swiss-Prot
    Q15738
    Conserved Domains (1) summary
    cd09813
    Location:39366
    3b-HSD-NSDHL-like_SDR_e; human NSDHL (NAD(P)H steroid dehydrogenase-like protein)-like, extended (e) SDRs
  2. XM_017029564.1XP_016885053.1  sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating isoform X1

Support Center