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Protein

Polyprenol reductase

Gene

SRD5A3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a key role in early steps of protein N-linked glycosylation by being required for the conversion of polyprenol into dolichol. Dolichols are required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-glycosylation. Acts as a polyprenol reductase that promotes the reduction of the alpha-isoprene unit of polyprenols into dolichols in a NADP-dependent mechanism. Also able to convert testosterone (T) into 5-alpha-dihydrotestosterone (DHT).2 Publications

Catalytic activityi

Ditrans,polycis-dolichol + NADP+ = ditrans,polycis-polyprenol + NADPH.
A 3-oxo-5-alpha-steroid + NADP+ = a 3-oxo-Delta(4)-steroid + NADPH.

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

GO - Molecular functioni

GO - Biological processi

  • androgen biosynthetic process Source: Reactome
  • dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
  • dolichol metabolic process Source: UniProtKB
  • dolichyl diphosphate biosynthetic process Source: Reactome
  • polyprenol catabolic process Source: UniProtKB
  • protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS13249-MONOMER.
ZFISH:HS13249-MONOMER.
BRENDAi1.3.1.22. 2681.
1.3.1.94. 2681.
ReactomeiR-HSA-193048. Androgen biosynthesis.
R-HSA-446199. Synthesis of Dolichyl-phosphate.
UniPathwayiUPA00378.

Names & Taxonomyi

Protein namesi
Recommended name:
Polyprenol reductase (EC:1.3.1.94)
Alternative name(s):
3-oxo-5-alpha-steroid 4-dehydrogenase 3 (EC:1.3.1.22)
Steroid 5-alpha-reductase 2-like
Steroid 5-alpha-reductase 3
Short name:
S5AR 3
Short name:
SR type 3
Gene namesi
Name:SRD5A3
Synonyms:SRD5A2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25812. SRD5A3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 11CytoplasmicSequence analysisAdd BLAST11
Transmembranei12 – 34HelicalSequence analysisAdd BLAST23
Topological domaini35 – 80LumenalSequence analysisAdd BLAST46
Transmembranei81 – 101HelicalSequence analysisAdd BLAST21
Topological domaini102 – 117CytoplasmicSequence analysisAdd BLAST16
Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 157LumenalSequence analysisAdd BLAST19
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 194CytoplasmicSequence analysisAdd BLAST16
Transmembranei195 – 215HelicalSequence analysisAdd BLAST21
Topological domaini216 – 260LumenalSequence analysisAdd BLAST45
Transmembranei261 – 281HelicalSequence analysisAdd BLAST21
Topological domaini282 – 318CytoplasmicSequence analysisAdd BLAST37

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1Q (CDG1Q)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.
See also OMIM:612379
Kahrizi syndrome (KHRZ)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features.
See also OMIM:612713

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi296H → A: Loss of function. 2 Publications1

Keywords - Diseasei

Cataract, Congenital disorder of glycosylation, Mental retardation

Organism-specific databases

DisGeNETi79644.
MalaCardsiSRD5A3.
MIMi612379. phenotype.
612713. phenotype.
OpenTargetsiENSG00000128039.
Orphaneti324737. SRD5A3-CDG.
PharmGKBiPA162404779.

Chemistry databases

ChEMBLiCHEMBL2363075.
DrugBankiDB00421. Spironolactone.

Polymorphism and mutation databases

BioMutaiSRD5A3.
DMDMi74733864.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003177031 – 318Polyprenol reductaseAdd BLAST318

Proteomic databases

MaxQBiQ9H8P0.
PaxDbiQ9H8P0.
PeptideAtlasiQ9H8P0.
PRIDEiQ9H8P0.

PTM databases

iPTMnetiQ9H8P0.
PhosphoSitePlusiQ9H8P0.

Expressioni

Tissue specificityi

Overexpressed in hormone-refractory prostate cancers (HRPC). Almost no or little expression in normal adult organs.1 Publication

Gene expression databases

BgeeiENSG00000128039.
CleanExiHS_SRD5A3.
ExpressionAtlasiQ9H8P0. baseline and differential.
GenevisibleiQ9H8P0. HS.

Organism-specific databases

HPAiHPA027006.

Interactioni

Protein-protein interaction databases

BioGridi122772. 3 interactors.
IntActiQ9H8P0. 2 interactors.
STRINGi9606.ENSP00000264228.

Structurei

3D structure databases

ProteinModelPortaliQ9H8P0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1640. Eukaryota.
ENOG4111JQM. LUCA.
GeneTreeiENSGT00500000044920.
HOVERGENiHBG057797.
InParanoidiQ9H8P0.
KOiK12345.
OMAiVLMQARW.
OrthoDBiEOG091G0F09.
PhylomeDBiQ9H8P0.
TreeFamiTF315011.

Family and domain databases

InterProiIPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view]
PfamiPF02544. Steroid_dh. 1 hit.
[Graphical view]
PROSITEiPS50244. S5A_REDUCTASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H8P0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAPWAEAEHS ALNPLRAVWL TLTAAFLLTL LLQLLPPGLL PGCAIFQDLI
60 70 80 90 100
RYGKTKCGEP SRPAACRAFD VPKRYFSHFY IISVLWNGFL LWCLTQSLFL
110 120 130 140 150
GAPFPSWLHG LLRILGAAQF QGGELALSAF LVLVFLWLHS LRRLFECLYV
160 170 180 190 200
SVFSNVMIHV VQYCFGLVYY VLVGLTVLSQ VPMDGRNAYI TGKNLLMQAR
210 220 230 240 250
WFHILGMMMF IWSSAHQYKC HVILGNLRKN KAGVVIHCNH RIPFGDWFEY
260 270 280 290 300
VSSPNYLAEL MIYVSMAVTF GFHNLTWWLV VTNVFFNQAL SAFLSHQFYK
310
SKFVSYPKHR KAFLPFLF
Length:318
Mass (Da):36,521
Last modified:March 1, 2001 - v1
Checksum:i404C7ECBB4A29E6B
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023414 mRNA. Translation: BAB14568.1.
CR457312 mRNA. Translation: CAG33593.1.
AC064824 Genomic DNA. Translation: AAY40904.1.
CH471057 Genomic DNA. Translation: EAX05465.1.
BC002480 mRNA. Translation: AAH02480.1.
CCDSiCCDS3498.1.
RefSeqiNP_078868.1. NM_024592.4.
UniGeneiHs.39311.

Genome annotation databases

EnsembliENST00000264228; ENSP00000264228; ENSG00000128039.
GeneIDi79644.
KEGGihsa:79644.
UCSCiuc003hau.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023414 mRNA. Translation: BAB14568.1.
CR457312 mRNA. Translation: CAG33593.1.
AC064824 Genomic DNA. Translation: AAY40904.1.
CH471057 Genomic DNA. Translation: EAX05465.1.
BC002480 mRNA. Translation: AAH02480.1.
CCDSiCCDS3498.1.
RefSeqiNP_078868.1. NM_024592.4.
UniGeneiHs.39311.

3D structure databases

ProteinModelPortaliQ9H8P0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122772. 3 interactors.
IntActiQ9H8P0. 2 interactors.
STRINGi9606.ENSP00000264228.

Chemistry databases

ChEMBLiCHEMBL2363075.
DrugBankiDB00421. Spironolactone.

PTM databases

iPTMnetiQ9H8P0.
PhosphoSitePlusiQ9H8P0.

Polymorphism and mutation databases

BioMutaiSRD5A3.
DMDMi74733864.

Proteomic databases

MaxQBiQ9H8P0.
PaxDbiQ9H8P0.
PeptideAtlasiQ9H8P0.
PRIDEiQ9H8P0.

Protocols and materials databases

DNASUi79644.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264228; ENSP00000264228; ENSG00000128039.
GeneIDi79644.
KEGGihsa:79644.
UCSCiuc003hau.4. human.

Organism-specific databases

CTDi79644.
DisGeNETi79644.
GeneCardsiSRD5A3.
GeneReviewsiSRD5A3.
HGNCiHGNC:25812. SRD5A3.
HPAiHPA027006.
MalaCardsiSRD5A3.
MIMi611715. gene.
612379. phenotype.
612713. phenotype.
neXtProtiNX_Q9H8P0.
OpenTargetsiENSG00000128039.
Orphaneti324737. SRD5A3-CDG.
PharmGKBiPA162404779.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1640. Eukaryota.
ENOG4111JQM. LUCA.
GeneTreeiENSGT00500000044920.
HOVERGENiHBG057797.
InParanoidiQ9H8P0.
KOiK12345.
OMAiVLMQARW.
OrthoDBiEOG091G0F09.
PhylomeDBiQ9H8P0.
TreeFamiTF315011.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS13249-MONOMER.
ZFISH:HS13249-MONOMER.
BRENDAi1.3.1.22. 2681.
1.3.1.94. 2681.
ReactomeiR-HSA-193048. Androgen biosynthesis.
R-HSA-446199. Synthesis of Dolichyl-phosphate.

Miscellaneous databases

ChiTaRSiSRD5A3. human.
GeneWikiiSRD5A3.
GenomeRNAii79644.
PROiQ9H8P0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000128039.
CleanExiHS_SRD5A3.
ExpressionAtlasiQ9H8P0. baseline and differential.
GenevisibleiQ9H8P0. HS.

Family and domain databases

InterProiIPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view]
PfamiPF02544. Steroid_dh. 1 hit.
[Graphical view]
PROSITEiPS50244. S5A_REDUCTASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPORED_HUMAN
AccessioniPrimary (citable) accession number: Q9H8P0
Secondary accession number(s): Q4W5Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.