SRD5A3 steroid 5 alpha-reductase 3 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: SRD5A3provided by HGNC
Official Full Name: steroid 5 alpha-reductase 3provided by HGNC
Primary source: HGNC:HGNC:25812
See related: Ensembl:ENSG00000128039 MIM:611715; AllianceGenome:HGNC:25812
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: S5AR; CDG1P; CDG1Q; KRIZI; S5AR 3; SRD5A2L; SRD5A2L1
Summary: The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
Expression: Ubiquitous expression in gall bladder (RPKM 7.7), endometrium (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (55346242..55373100)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (58834370..58861238)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (56212409..56239267)

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Over-expression of SRD5A3 and its prognostic significance in breast cancer.
Title: Over-expression of SRD5A3 and its prognostic significance in breast cancer.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Title: SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and predicts poor survival of human hepatocellular carcinoma (HCC).
Title: Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and predicts poor survival of human hepatocellular carcinoma (HCC).
Study revealed for the first time the presence of 5alpha-reductase-R3 mRNA in human hair.
Title: 5α-Reductase isozymes and aromatase mRNA levels in plucked hair from young women with female pattern hair loss.
Findings suggest that 5alpha-reductases (5-AR) isoenzymes could be explored as a therapeutic target for urothelial bladder cancer (UBC) with 5alpha-reductase inhibitors (5-ARI).
Title: The Genomic Alterations of 5α-Reductases and Their Inhibitor Finasteride's Effect in Bladder Cancer.
We present the features of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement
Title: SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
Although 4-dione is the main source of 5alpha-dihydrotestosterone in human preadipocytes, production of this steroid by 5 alpha-reductase isoenzymes (SRD5A1, 2 and 3) mediates the inhibitory effect of both 4-dione and testosterone on preadipocyte differentiation.
Title: Characterization of 5α-reductase activity and isoenzymes in human abdominal adipose tissues.
Mutations in the SRD5A3 gene may cause early-onset retinal dystrophy, a previously underdescribed feature of the SRD5A3-CDG disorder that is progressive and may lead to serious visual impairment.
Title: Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG
Title: Adult phenotype and further phenotypic variability in SRD5A3-CDG.
Findings suggest that overexpression of 5alpha-reductase, through a higher inactivation of cortisol in the liver, could have a protective role in preserving hepatic sensitivity to insulin.
Title: Overexpression of hepatic 5α-reductase and 11β-hydroxysteroid dehydrogenase type 1 in visceral adipose tissue is associated with hyperinsulinemia in morbidly obese patients.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Kahrizi syndrome MedGen: C2675185 OMIM: 612713 GeneReviews: Not available	Compare labs
SRD5A3-congenital disorder of glycosylation MedGen: C4317224 OMIM: 612379 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-142651 (e-PCR)
- UniSTS:171572

SHGC-68214 (e-PCR)
- UniSTS:71221

SHGC-67770 (e-PCR)
- UniSTS:65630

SHGC-59633 (e-PCR)
- UniSTS:12435

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS Traceable Author Statement more info
enables 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) activity	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	TAS Traceable Author Statement more info
enables polyprenol reductase activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in androgen biosynthetic process	TAS Traceable Author Statement more info
involved_in dolichol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dolichol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in dolichol-linked oligosaccharide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dolichol-linked oligosaccharide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dolichyl diphosphate biosynthetic process	TAS Traceable Author Statement more info
involved_in polyprenol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in polyprenol catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: polyprenol reductase

Names: 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP(+)); 3-oxo-5-alpha-steroid 4-dehydrogenase 3; SR type 3; probable polyprenol reductase

NP_001397661.1

EC 1.3.1.22

EC 1.3.1.94

NP_078868.1

EC 1.3.1.22

EC 1.3.1.94

XP_005265824.1

EC 1.3.1.22

EC 1.3.1.94

XP_016864090.1

EC 1.3.1.22

EC 1.3.1.94

XP_054206797.1

EC 1.3.1.22

EC 1.3.1.94

XP_054206798.1

EC 1.3.1.22

EC 1.3.1.94

NCBI Reference Sequences (RefSeq)

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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

NG_028230.1 RefSeqGene

Range

5022..31880

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001410732.1 → NP_001397661.1 polyprenol reductase isoform 2

Status: REVIEWED

Source sequence(s)

AC064824, AC069200

Consensus CDS

CCDS93533.1

UniProtKB/TrEMBL

A0A7P0TBH6

Related

ENSP00000506601.1, ENST00000679836.1
NM_024592.5 → NP_078868.1 polyprenol reductase isoform 1

See identical proteins and their annotated locations for NP_078868.1

Status: REVIEWED

Source sequence(s)

AC069200, AK023414, CX763068, DB532427

Consensus CDS

CCDS3498.1

UniProtKB/Swiss-Prot

Q4W5Q6, Q9H8P0

Related

ENSP00000264228.4, ENST00000264228.9

Conserved Domains (1) summary

cl21511
Location:69 → 318

PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

55346242..55373100

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265767.4 → XP_005265824.1 polyprenol reductase isoform X2

UniProtKB/TrEMBL

H0Y9P9

Related

ENSP00000424714.1, ENST00000505210.1

Conserved Domains (1) summary

cl21511
Location:129 → 207

PEMT; Phospholipid methyltransferase
XM_017008601.2 → XP_016864090.1 polyprenol reductase isoform X1