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Q9H8P0

- PORED_HUMAN

UniProt

Q9H8P0 - PORED_HUMAN

Protein

Polyprenol reductase

Gene

SRD5A3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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

    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

    GO - Biological processi

    1. androgen biosynthetic process Source: Reactome
    2. cellular protein metabolic process Source: Reactome
    3. dolichol-linked oligosaccharide biosynthetic process Source: UniProtKB
    4. dolichol metabolic 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

    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 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

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

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

    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 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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1111CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini35 – 8046LumenalSequence AnalysisAdd
    BLAST
    Topological domaini102 – 11716CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini139 – 15719LumenalSequence AnalysisAdd
    BLAST
    Topological domaini179 – 19416CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini216 – 26045LumenalSequence AnalysisAdd
    BLAST
    Topological domaini282 – 31837CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei12 – 3423HelicalSequence AnalysisAdd
    BLAST
    Transmembranei81 – 10121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei118 – 13821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei158 – 17821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei195 – 21521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei261 – 28121HelicalSequence AnalysisAdd
    BLAST

    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...
    MobiDBi 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

    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: October 1, 2014
    This is version 112 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