LOCUS       NM_024592               4061 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), transcript
            variant 1, mRNA.
ACCESSION   NM_024592
VERSION     NM_024592.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4061)
  AUTHORS   Lu,Y., Liu,Z., Zheng,Y., Liu,X., Liu,X., Chen,N., Mao,K. and Lin,W.
  TITLE     Analysis of the implication of steroid 5 alpha-reductase 3 on
            prognosis and immune microenvironment in Liver Hepatocellular
            Carcinoma
  JOURNAL   Ann Med 56 (1), 2408463 (2024)
   PUBMED   39340288
  REMARK    GeneRIF: Analysis of the implication of steroid 5 alpha-reductase 3
            on prognosis and immune microenvironment in Liver Hepatocellular
            Carcinoma.
REFERENCE   2  (bases 1 to 4061)
  AUTHORS   Wilson,M.P., Kentache,T., Althoff,C.R., Schulz,C., de
            Bettignies,G., Mateu Cabrera,G., Cimbalistiene,L., Burnyte,B.,
            Yoon,G., Costain,G., Vuillaumier-Barrot,S., Cheillan,D., Rymen,D.,
            Rychtarova,L., Hansikova,H., Bury,M., Dewulf,J.P., Caligiore,F.,
            Jaeken,J., Cantagrel,V., Van Schaftingen,E., Matthijs,G.,
            Foulquier,F. and Bommer,G.T.
  TITLE     A pseudoautosomal glycosylation disorder prompts the revision of
            dolichol biosynthesis
  JOURNAL   Cell 187 (14), 3585-3601 (2024)
   PUBMED   38821050
  REMARK    Erratum:[Cell. 2024 Jul 11;187(14):3784. doi:
            10.1016/j.cell.2024.06.004.. PMID: 38870945]
REFERENCE   3  (bases 1 to 4061)
  AUTHORS   Zhang,Y.P., Na,W.T., Dai,X.Q., Li,R.F., Wang,J.X., Gao,T.,
            Zhang,W.B. and Xiang,C.
  TITLE     Over-expression of SRD5A3 and its prognostic significance in breast
            cancer
  JOURNAL   World J Surg Oncol 19 (1), 260 (2021)
   PUBMED   34465365
  REMARK    GeneRIF: Over-expression of SRD5A3 and its prognostic significance
            in breast cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4061)
  AUTHORS   Ben Ayed,I., Ouarda,W., Frikha,F., Kammoun,F., Souissi,A., Ben
            Said,M., Bouzid,A., Elloumi,I., Hamdani,T.M., Gharbi,N.,
            Baklouti,N., Guirat,M., Mejdoub,F., Kharrat,N., Boujelbene,I.,
            Abdelhedi,F., Belguith,N., Keskes,L., Gibriel,A.A., Kamoun,H.,
            Triki,C., Alimi,A.M. and Masmoudi,S.
  TITLE     SRD5A3-CDG: 3D structure modeling, clinical spectrum, and
            computer-based dysmorphic facial recognition
  JOURNAL   Am J Med Genet A 185 (4), 1081-1090 (2021)
   PUBMED   33403770
  REMARK    GeneRIF: SRD5A3-CDG: 3D structure modeling, clinical spectrum, and
            computer-based dysmorphic facial recognition.
REFERENCE   5  (bases 1 to 4061)
  AUTHORS   Mai,Q., Sheng,D., Chen,C., Gou,Q., Chen,M., Huang,X., Yin,H.,
            Chen,X. and Chen,Z.
  TITLE     Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth and
            predicts poor survival of human hepatocellular carcinoma (HCC)
  JOURNAL   Aging (Albany NY) 12 (24), 25395-25411 (2020)
   PUBMED   33229626
  REMARK    GeneRIF: Steroid 5 alpha-reductase 3 (SRD5A3) promotes tumor growth
            and predicts poor survival of human hepatocellular carcinoma (HCC).
REFERENCE   6  (bases 1 to 4061)
  AUTHORS   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. and Tzschach,A.
  TITLE     Next generation sequencing in a family with autosomal recessive
            Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift
            mutation in SRD5A3
  JOURNAL   Eur J Hum Genet 19 (1), 115-117 (2011)
   PUBMED   20700148
  REMARK    GeneRIF: Next generation sequencing identified a homozygous
            frameshift mutation (c.203dupC; p.Phe69LeufsX2) SRD5A3 as the
            disease-causing change in Kahrizi syndrome.
REFERENCE   7  (bases 1 to 4061)
  AUTHORS   Cantagrel,V., Lefeber,D.J., Ng,B.G., Guan,Z., Silhavy,J.L.,
            Bielas,S.L., Lehle,L., Hombauer,H., Adamowicz,M., Swiezewska,E., De
            Brouwer,A.P., Blumel,P., Sykut-Cegielska,J., Houliston,S.,
            Swistun,D., Ali,B.R., Dobyns,W.B., Babovic-Vuksanovic,D., van
            Bokhoven,H., Wevers,R.A., Raetz,C.R., Freeze,H.H., Morava,E.,
            Al-Gazali,L. and Gleeson,J.G.
  TITLE     SRD5A3 is required for converting polyprenol to dolichol and is
            mutated in a congenital glycosylation disorder
  JOURNAL   Cell 142 (2), 203-217 (2010)
   PUBMED   20637498
  REMARK    GeneRIF: Study of a large consanguineous Emirati family showed that
            loss of function mutations of the SRD5A3 gene cause a multisystemic
            syndrome with eye malformations, cerebellar vermis hypoplasia, and
            psychomotor delay.
REFERENCE   8  (bases 1 to 4061)
  AUTHORS   Uemura,M., Tamura,K., Chung,S., Honma,S., Okuyama,A., Nakamura,Y.
            and Nakagawa,H.
  TITLE     Novel 5 alpha-steroid reductase (SRD5A3, type-3) is overexpressed
            in hormone-refractory prostate cancer
  JOURNAL   Cancer Sci 99 (1), 81-86 (2008)
   PUBMED   17986282
  REMARK    GeneRIF: Findings indicate that a novel type 3 5 alpha-steroid
            reductase, SRD5A3, is associated with DHT production and
            maintenance of androgen-androgen receptor-pathway activation in
            prostate cancer.
REFERENCE   9  (bases 1 to 4061)
  AUTHORS   Payne,A.H. and Hales,D.B.
  TITLE     Overview of steroidogenic enzymes in the pathway from cholesterol
            to active steroid hormones
  JOURNAL   Endocr Rev 25 (6), 947-970 (2004)
   PUBMED   15583024
  REMARK    Review article
REFERENCE   10 (bases 1 to 4061)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX763068.1, AK023414.1,
            AC069200.6 and DB532427.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_024592.4.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL526960.3, SRR1803617.157348.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264228.9/ ENSP00000264228.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-564               CX763068.1         134-697
            565-1372            AK023414.1         566-1373
            1373-1435           AC069200.6         3103-3165
            1436-1745           AK023414.1         1435-1744
            1746-4031           AC069200.6         3476-5761
            4032-4061           DB532427.1         371-400
FEATURES             Location/Qualifiers
     source          1..4061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q12"
     gene            1..4061
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /note="steroid 5 alpha-reductase 3"
                     /db_xref="GeneID:79644"
                     /db_xref="HGNC:HGNC:25812"
                     /db_xref="MIM:611715"
     exon            1..316
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1052
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /EC_number="1.3.1.22"
                     /EC_number="1.3.1.94"
                     /note="isoform 1 is encoded by transcript variant 1;
                     3-oxo-5-alpha-steroid 4-dehydrogenase 3; probable
                     polyprenol reductase; SR type 3; 3-oxo-5-alpha-steroid
                     4-dehydrogenase (NADP(+)); polyprenal reductase"
                     /codon_start=1
                     /product="polyprenal reductase isoform 1"
                     /protein_id="NP_078868.1"
                     /db_xref="CCDS:CCDS3498.1"
                     /db_xref="GeneID:79644"
                     /db_xref="HGNC:HGNC:25812"
                     /db_xref="MIM:611715"
                     /translation="MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCA
                     IFQDLIRYGKTKCGEPSRPAACRAFDVPKRYFSHFYIISVLWNGFLLWCLTQSLFLGA
                     PFPSWLHGLLRILGAAQFQGGELALSAFLVLVFLWLHSLRRLFECLYVSVFSNVMIHV
                     VQYCFGLVYYVLVGLTVLSQVPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQY
                     KCHVILGNLRKNKAGVVIHCNHRIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLT
                     WWLVVTNVFFNQALSAFLSHQFYKSKFVSYPKHRKAFLPFLF"
     exon            317..459
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            460..657
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            658..792
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            793..4061
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1246..1251
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /note="hexamer: AATAAA"
     polyA_site      1271
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /note="major polyA site"
     regulatory      2247..2252
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /note="hexamer: AATAAA"
     polyA_site      2268
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
     regulatory      3151..3156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /note="hexamer: AATAAA"
     polyA_site      3175
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
     regulatory      4036..4041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
                     /note="hexamer: ATTAAA"
     polyA_site      4061
                     /gene="SRD5A3"
                     /gene_synonym="CDG1P; CDG1Q; KRIZI; S5AR; S5AR 3; SRD5A2L;
                     SRD5A2L1"
ORIGIN      
        1 aggctgagac cggtgcgccg cgcgctagtg gccgctcttc cgcgggctag cgggcggtgg
       61 gggcgccagc agcgcggaag gcgggcacgc gggccatggc tccctgggcg gaggccgagc
      121 actcggcgct gaacccgctg cgcgcggtgt ggctcacgct gaccgccgcc ttcctgctga
      181 ccctactgct gcagctcctg ccgcccggcc tgctcccggg ctgcgcgatc ttccaggacc
      241 tgatccgcta tgggaaaacc aagtgtgggg agccgtcgcg ccccgccgcc tgccgagcct
      301 ttgatgtccc caagagatat ttttcccact tttatatcat ctcagtgctg tggaatggct
      361 tcctgctttg gtgccttact caatctctgt tcctgggagc accttttcca agctggcttc
      421 atggtttgct cagaattctc ggggcggcac agttccaggg aggggagctg gcactgtctg
      481 cattcttagt gctagtattt ctgtggctgc acagcttacg aagactcttc gagtgcctct
      541 acgtcagtgt cttctccaat gtcatgattc acgtcgtgca gtactgtttt ggacttgtct
      601 attatgtcct tgttggccta actgtgctga gccaagtgcc aatggatggc aggaatgcct
      661 acataacagg gaaaaatcta ttgatgcaag cacggtggtt ccatattctt gggatgatga
      721 tgttcatctg gtcatctgcc catcagtata agtgccatgt tattctcggc aatctcagga
      781 aaaataaagc aggagtggtc attcactgta accacaggat cccatttgga gactggtttg
      841 aatatgtttc ttcccctaac tacttagcag agctgatgat ctacgtttcc atggccgtca
      901 cctttgggtt ccacaactta acttggtggc tagtggtgac aaatgtcttc tttaatcagg
      961 ccctgtctgc ctttctcagc caccaattct acaaaagcaa atttgtctct tacccgaagc
     1021 ataggaaagc tttcctacca tttttgtttt aagttaacct cagtcatgaa gaatgcaaac
     1081 caggtgatgg tttcaatgcc taaggacagt gaagtctgga gcccaaagta cagtttcagc
     1141 aaagctgttt gaaactctcc attccatttc tataccccac aagttttcac tgaatgagca
     1201 tggcagtgcc actcaagaaa atgaatctcc aaagtatctt caaagaataa atactaatgg
     1261 cagatctgcg atttctgggt ccactttctg agatgctttc taaaaccaac caactgataa
     1321 aaagtagatg agacttctcc aagctgcttc acaagcaaac taaccgaaaa accgaaaata
     1381 tacaaacagc ttcacacaca cacacacaca cacacacaca cacacacaca cacaaaggaa
     1441 gatcatcaat ggctgcggta gcctagtagg aatggactat ataataatat agcaggtgct
     1501 caataactgt ttgttgcatt tcagtaaaag cagaataacc tttcaaaata ataacaggct
     1561 gggtgcaatg gctcacacct gttaatccca gcacttcggg aggccaaggt gggcagttcg
     1621 cttgggccca agagttcgag accagcctgg gcaacatggt gaaaccctat ctccgtgaaa
     1681 aaatatgaaa attagccaag agtggtggca catgcctgta gtcccagata cttgggagtg
     1741 ggctgagatg ggagaatcgc ttgagcccag gaggtcaagg gtacagtgag ccgaggtcat
     1801 gccactgcac tccagcctgg cctgggcaac agagcaagac cctgtctcaa aataataata
     1861 atatataatt ttacaccaaa agtttcagga aaaaacgagt ttgttggagt tagtttatac
     1921 tttcacatat caccacaaag atctccagtt aaataactat caatatccat ttccattcat
     1981 ctccccctca aatcatagcc taacagaaca ctttgaaagc tcttttattt aatatttttt
     2041 tacatccttt gaagggagtg cttcaaaaat gaaagcatca gaagataaaa tatttttata
     2101 tttatgcata gcaagccttc gtgaacggaa gtgacacact ctggattgaa taatactgta
     2161 gcctcattca tatgtagtta ttcaaattgg attaatgtct gtgtgagttt atttgaacta
     2221 gcagaaagta tctgaagata ttcaggaata aagtttatac ttaaaatagc ttatgttaaa
     2281 gaaaatacct gtgattaatt cagagggaaa taaatgcatg gtataaaaga aaaccaaaaa
     2341 cttaaaaaat aatactatag cctgagcaac acattaaaac tgcacacttg tgcagcgtaa
     2401 gattctctgg cttattggct gaggtgttaa gtttattcct tttatgaaga tgtcctatta
     2461 cagtcagcta agcactaaag ctttgcattt atatgtactt tgctatgggg gaaagaacct
     2521 tatgattaat aagacacata tcaaatgcat agtcaatcat tcccaccccc atccctggag
     2581 ctgtaaccca aaactgttaa actaagattc ctttgttttt tttgtttttt tgagatggag
     2641 tctcactctg tcgcccagac tggagtgcag tggtgggatc ctggctcact gcaacctccg
     2701 ccttctgggt tccagcgatt ctcctctgcc tcagcctccc aagtagctgg gattacaggc
     2761 acatgccacc atgcccaggt aattgttgta tttttagtag agatagagtt tcaccatgtt
     2821 ggccaggctg gtctcaaact cctgacctca ggtgatccac ctgcttcggc ctcccaaagt
     2881 gctgggatta caggtgtaag tcactgctcc cggatgcatg tcaagcacat tggaaagttc
     2941 ttacaacaat tctgatggag gattttctct cccatcaacc aaacaccact taagattaac
     3001 ctgtggctca gtctacttaa ataaatgcca tatttatttt acttatcatt tagaatttgc
     3061 cattctcagg aacaaaactt tttgtacatt ggaaatggaa aacattgcag tttggtctta
     3121 atttccacat gaatatcaag tgtaattttt aataaattat ttggagaaaa atgtatttta
     3181 ttttagcatg caattttatg cccaggttag actagagatt tggctgatgt tctggaatct
     3241 cattgtactc ttaagtaaaa taacgagcat cccatgacgc accctgtcag gggttgtgag
     3301 aaagctgcag tgtccagttt cccacccctg tttcctgctg tctctctccc actcatccct
     3361 gtttcttact catccctttt ccttctttgc ccaaacatca tatttctagg caaagataag
     3421 agaggagata gtgatgtcct gaaaggggtt cagaacaacg tagcatggcc tttggtgaaa
     3481 gcgtcaccga tgggaaataa ttgagaattg tgcagtgctt gcagcgtcag aatcagcact
     3541 gttttttgtg ttggtgaaaa tattccatgt gcgtaaaggg agagcatcag ggactttgca
     3601 aattcttcac aaggacccag aaatagctta aagattcatg gttttcctgt tggcttaaat
     3661 agccttaatc tttcattttc tactaccatt aagtcgggga aatgacattg aactacctca
     3721 ttagcagcct tcccttgatt aactactgac taaaagtgtg ctgaaaatgg cctttgtttt
     3781 tgtgaagctc atcctataca ctaacatttg cttaaccatg gattattttg tctctacaaa
     3841 gctgtgccct gtattcgatt tttacttcaa tgagtggtta ttgctagaat tcctacaaaa
     3901 aaaaaaaaaa ccgttgcaga tatttttgta tgtagcttaa tagatattta gtttaaggag
     3961 actgcaacat ttgcataagg tgcctaaaaa ctcaagaacc attgataagt gagatcactc
     4021 aaaatgagct gatatattaa agaagacctt aaaacagtaa a
//
