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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.

Pathway:iprotein 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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS13249-MONOMER.
BRENDAi1.3.1.22. 2681.
1.3.1.94. 2681.
ReactomeiREACT_11059. Androgen biosynthesis.
REACT_22230. 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
ProteomesiUP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:25812. SRD5A3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1111CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei12 – 3423HelicalSequence AnalysisAdd
BLAST
Topological domaini35 – 8046LumenalSequence AnalysisAdd
BLAST
Transmembranei81 – 10121HelicalSequence AnalysisAdd
BLAST
Topological domaini102 – 11716CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei118 – 13821HelicalSequence AnalysisAdd
BLAST
Topological domaini139 – 15719LumenalSequence AnalysisAdd
BLAST
Transmembranei158 – 17821HelicalSequence AnalysisAdd
BLAST
Topological domaini179 – 19416CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei195 – 21521HelicalSequence AnalysisAdd
BLAST
Topological domaini216 – 26045LumenalSequence AnalysisAdd
BLAST
Transmembranei261 – 28121HelicalSequence AnalysisAdd
BLAST
Topological domaini282 – 31837CytoplasmicSequence AnalysisAdd
BLAST

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 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)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi296 – 2961H → A: Loss of function. 2 Publications

Keywords - Diseasei

Cataract, Congenital disorder of glycosylation, Mental retardation

Organism-specific databases

MIMi612379. phenotype.
612713. phenotype.
Orphaneti324737. SRD5A3-CDG.
PharmGKBiPA162404779.

Chemistry

DrugBankiDB00421. Spironolactone.

Polymorphism and mutation databases

BioMutaiSRD5A3.
DMDMi74733864.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 318318Polyprenol reductasePRO_0000317703Add
BLAST

Proteomic databases

MaxQBiQ9H8P0.
PaxDbiQ9H8P0.
PeptideAtlasiQ4W5Q6.
PRIDEiQ9H8P0.

PTM databases

PhosphoSiteiQ9H8P0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9H8P0.
CleanExiHS_SRD5A3.
ExpressionAtlasiQ9H8P0. baseline and differential.
GenevisibleiQ9H8P0. HS.

Organism-specific databases

HPAiHPA027006.

Interactioni

Protein-protein interaction databases

BioGridi122772. 3 interactions.
IntActiQ9H8P0. 2 interactions.
STRINGi9606.ENSP00000264228.

Structurei

3D structure databases

ProteinModelPortaliQ9H8P0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG330066.
GeneTreeiENSGT00500000044920.
HOVERGENiHBG057797.
InParanoidiQ9H8P0.
KOiK12345.
OMAiVLMQARW.
OrthoDBiEOG72ZCFT.
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.3. 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 interactions.
IntActiQ9H8P0. 2 interactions.
STRINGi9606.ENSP00000264228.

Chemistry

ChEMBLiCHEMBL2363075.
DrugBankiDB00421. Spironolactone.

PTM databases

PhosphoSiteiQ9H8P0.

Polymorphism and mutation databases

BioMutaiSRD5A3.
DMDMi74733864.

Proteomic databases

MaxQBiQ9H8P0.
PaxDbiQ9H8P0.
PeptideAtlasiQ4W5Q6.
PRIDEiQ9H8P0.

Protocols and materials databases

DNASUi79644.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264228; ENSP00000264228; ENSG00000128039.
GeneIDi79644.
KEGGihsa:79644.
UCSCiuc003hau.3. human.

Organism-specific databases

CTDi79644.
GeneCardsiGC04P056212.
GeneReviewsiSRD5A3.
HGNCiHGNC:25812. SRD5A3.
HPAiHPA027006.
MIMi611715. gene.
612379. phenotype.
612713. phenotype.
neXtProtiNX_Q9H8P0.
Orphaneti324737. SRD5A3-CDG.
PharmGKBiPA162404779.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG330066.
GeneTreeiENSGT00500000044920.
HOVERGENiHBG057797.
InParanoidiQ9H8P0.
KOiK12345.
OMAiVLMQARW.
OrthoDBiEOG72ZCFT.
PhylomeDBiQ9H8P0.
TreeFamiTF315011.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:HS13249-MONOMER.
BRENDAi1.3.1.22. 2681.
1.3.1.94. 2681.
ReactomeiREACT_11059. Androgen biosynthesis.
REACT_22230. Synthesis of Dolichyl-phosphate.

Miscellaneous databases

ChiTaRSiSRD5A3. human.
GeneWikiiSRD5A3.
GenomeRNAii79644.
NextBioi68779.
PROiQ9H8P0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H8P0.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Ovary.
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.
  6. "Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed in hormone-refractory prostate cancer."
    Uemura M., Tamura K., Chung S., Honma S., Okuyama A., Nakamura Y., Nakagawa H.
    Cancer Sci. 99:81-86(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, TISSUE SPECIFICITY, MUTAGENESIS OF HIS-296.
  7. Cited for: FUNCTION, CATALYTIC ACTIVITY, PATHWAY, SUBCELLULAR LOCATION, INVOLVEMENT IN CDG1Q, MUTAGENESIS OF HIS-296.
  8. "Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3."
    Kahrizi K., Hu C.H., Garshasbi M., Abedini S.S., Ghadami S., Kariminejad R., Ullmann R., Chen W., Ropers H.H., Kuss A.W., Najmabadi H., Tzschach A.
    Eur. J. Hum. Genet. 19:115-117(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN KHRZ.
  9. Cited for: INVOLVEMENT IN CDG1Q.

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: July 22, 2015
This is version 119 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

External Data

Dasty 3

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 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.