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Q9H8P0

- PORED_HUMAN

UniProt

Q9H8P0 - PORED_HUMAN

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Protein
Polyprenol reductase
Gene
SRD5A3, SRD5A2L
Organism
Homo sapiens (Human)
Status
Reviewed - 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.2 Publications
A 3-oxo-5-alpha-steroid + NADP+ = a 3-oxo-Delta(4)-steroid + NADPH.2 Publications

Pathwayi

GO - Molecular functioni

  1. 3-oxo-5-alpha-steroid 4-dehydrogenase activity Source: UniProtKB
  2. cholestenone 5-alpha-reductase activity Source: UniProtKB-EC
  3. oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. androgen biosynthetic process Source: Reactome
  2. cellular protein metabolic process Source: Reactome
  3. dolichol metabolic process Source: UniProtKB
  4. dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
  5. dolichyl diphosphate biosynthetic process Source: Reactome
  6. polyprenol catabolic process Source: UniProtKB
  7. post-translational protein modification Source: Reactome
  8. protein N-linked glycosylation via asparagine Source: Reactome
  9. small molecule metabolic process Source: Reactome
  10. steroid metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS13249-MONOMER.
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: Chromosome 4

Organism-specific databases

HGNCiHGNC:25812. SRD5A3.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein Inferred 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1111Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei12 – 3423Helical; Reviewed prediction
Add
BLAST
Topological domaini35 – 8046Lumenal Reviewed prediction
Add
BLAST
Transmembranei81 – 10121Helical; Reviewed prediction
Add
BLAST
Topological domaini102 – 11716Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei118 – 13821Helical; Reviewed prediction
Add
BLAST
Topological domaini139 – 15719Lumenal Reviewed prediction
Add
BLAST
Transmembranei158 – 17821Helical; Reviewed prediction
Add
BLAST
Topological domaini179 – 19416Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei195 – 21521Helical; Reviewed prediction
Add
BLAST
Topological domaini216 – 26045Lumenal Reviewed prediction
Add
BLAST
Transmembranei261 – 28121Helical; Reviewed prediction
Add
BLAST
Topological domaini282 – 31837Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum membrane Source: Reactome
  3. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital disorder of glycosylation 1Q (CDG1Q) [MIM:612379]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Kahrizi syndrome (KHRZ) [MIM:612713]: An autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 318318Polyprenol reductase
PRO_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

ArrayExpressiQ9H8P0.
BgeeiQ9H8P0.
CleanExiHS_SRD5A3.
GenevestigatoriQ9H8P0.

Organism-specific databases

HPAiHPA027006.

Interactioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ9H8P0.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG330066.
HOVERGENiHBG057797.
InParanoidiQ9H8P0.
KOiK12345.
OMAiSSPHMFF.
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

MAPWAEAEHS ALNPLRAVWL TLTAAFLLTL LLQLLPPGLL PGCAIFQDLI    50
RYGKTKCGEP SRPAACRAFD VPKRYFSHFY IISVLWNGFL LWCLTQSLFL 100
GAPFPSWLHG LLRILGAAQF QGGELALSAF LVLVFLWLHS LRRLFECLYV 150
SVFSNVMIHV VQYCFGLVYY VLVGLTVLSQ VPMDGRNAYI TGKNLLMQAR 200
WFHILGMMMF IWSSAHQYKC HVILGNLRKN KAGVVIHCNH RIPFGDWFEY 250
VSSPNYLAEL MIYVSMAVTF GFHNLTWWLV VTNVFFNQAL SAFLSHQFYK 300
SKFVSYPKHR KAFLPFLF 318
Length:318
Mass (Da):36,521
Last modified:March 1, 2001 - v1
Checksum:i404C7ECBB4A29E6B
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi74733864.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS3498.1.
RefSeqi NP_078868.1. NM_024592.4.
UniGenei Hs.39311.

3D structure databases

ProteinModelPortali Q9H8P0.
ModBasei Search...

Protein-protein interaction databases

BioGridi 122772. 3 interactions.
IntActi Q9H8P0. 2 interactions.
STRINGi 9606.ENSP00000264228.

Chemistry

ChEMBLi CHEMBL2363075.

PTM databases

PhosphoSitei Q9H8P0.

Polymorphism databases

DMDMi 74733864.

Proteomic databases

MaxQBi Q9H8P0.
PaxDbi Q9H8P0.
PeptideAtlasi Q4W5Q6.
PRIDEi Q9H8P0.

Protocols and materials databases

DNASUi 79644.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264228 ; ENSP00000264228 ; ENSG00000128039 .
GeneIDi 79644.
KEGGi hsa:79644.
UCSCi uc003hau.3. human.

Organism-specific databases

CTDi 79644.
GeneCardsi GC04P056212.
GeneReviewsi SRD5A3.
HGNCi HGNC:25812. SRD5A3.
HPAi HPA027006.
MIMi 611715. gene.
612379. phenotype.
612713. phenotype.
neXtProti NX_Q9H8P0.
Orphaneti 324737. SRD5A3-CDG.
PharmGKBi PA162404779.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG330066.
HOVERGENi HBG057797.
InParanoidi Q9H8P0.
KOi K12345.
OMAi SSPHMFF.
OrthoDBi EOG72ZCFT.
PhylomeDBi Q9H8P0.
TreeFami TF315011.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BioCyci MetaCyc:HS13249-MONOMER.
Reactomei REACT_11059. Androgen biosynthesis.
REACT_22230. Synthesis of Dolichyl-phosphate.

Miscellaneous databases

GeneWikii SRD5A3.
GenomeRNAii 79644.
NextBioi 68779.
PROi Q9H8P0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9H8P0.
Bgeei Q9H8P0.
CleanExi HS_SRD5A3.
Genevestigatori Q9H8P0.

Family and domain databases

InterProi IPR001104. 3-oxo-5_a-steroid_4-DH_C.
[Graphical view ]
Pfami PF02544. Steroid_dh. 1 hit.
[Graphical view ]
PROSITEi PS50244. S5A_REDUCTASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 111 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

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