LOCUS       NM_015922               1833 bp    mRNA    linear   PRI 01-DEC-2024
DEFINITION  Homo sapiens NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase
            NSDHL (NSDHL), transcript variant 1, mRNA.
ACCESSION   NM_015922
VERSION     NM_015922.3
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 1833)
  AUTHORS   Chen,M., Zhao,Y., Yang,X., Zhao,Y., Liu,Q., Liu,Y., Hou,Y., Sun,H.
            and Jin,W.
  TITLE     NSDHL promotes triple-negative breast cancer metastasis through the
            TGFbeta signaling pathway and cholesterol biosynthesis
  JOURNAL   Breast Cancer Res Treat 187 (2), 349-362 (2021)
   PUBMED   33864166
  REMARK    GeneRIF: NSDHL promotes triple-negative breast cancer metastasis
            through the TGFbeta signaling pathway and cholesterol biosynthesis.
REFERENCE   2  (bases 1 to 1833)
  AUTHORS   Tang,M.M., Tan,W.C., Surana,U., Leong,K.F. and Pramano,Z.A.D.
  TITLE     CHILD syndrome in a Malaysian adult with identification of a novel
            heterozygous missense mutation NSDHL c.602A>G
  JOURNAL   Int J Dermatol 60 (4), e154-e156 (2021)
   PUBMED   33169834
  REMARK    GeneRIF: CHILD syndrome in a Malaysian adult with identification of
            a novel heterozygous missense mutation NSDHL c.602A>G.
REFERENCE   3  (bases 1 to 1833)
  AUTHORS   Xiao,Y., Xie,J., Liu,L., Huang,W., Han,Q., Qin,J., Liu,S. and
            Jiang,Z.
  TITLE     NAD(P)-dependent steroid dehydrogenase-like protein and neutral
            cholesterol ester hydrolase 1 serve as novel markers for early
            detection of gastric cancer identified using quantitative
            proteomics
  JOURNAL   J Clin Lab Anal 35 (2), e23652 (2021)
   PUBMED   33219617
  REMARK    GeneRIF: NAD(P)-dependent steroid dehydrogenase-like protein and
            neutral cholesterol ester hydrolase 1 serve as novel markers for
            early detection of gastric cancer identified using quantitative
            proteomics.
REFERENCE   4  (bases 1 to 1833)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1833)
  AUTHORS   Yoon,S.H., Kim,H.S., Kim,R.N., Jung,S.Y., Hong,B.S., Kang,E.J.,
            Lee,H.B., Moon,H.G., Noh,D.Y. and Han,W.
  TITLE     NAD(P)-dependent steroid dehydrogenase-like is involved in breast
            cancer cell growth and metastasis
  JOURNAL   BMC Cancer 20 (1), 375 (2020)
   PUBMED   32366230
  REMARK    GeneRIF: NAD(P)-dependent steroid dehydrogenase-like is involved in
            breast cancer cell growth and metastasis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1833)
  AUTHORS   Heiss,N.S., Rogner,U.C., Kioschis,P., Korn,B. and Poustka,A.
  TITLE     Transcription mapping in a 700-kb region around the DXS52 locus in
            Xq28: isolation of six novel transcripts and a novel ATPase isoform
            (hPMCA5)
  JOURNAL   Genome Res 6 (6), 478-491 (1996)
   PUBMED   8828037
REFERENCE   7  (bases 1 to 1833)
  AUTHORS   Levin,M.L., Chatterjee,A., Pragliola,A., Worley,K.C., Wehnert,M.,
            Zhuchenko,O., Smith,R.F., Lee,C.C. and Herman,G.E.
  TITLE     A comparative transcription map of the murine bare patches (Bpa)
            and striated (Str) critical regions and human Xq28
  JOURNAL   Genome Res 6 (6), 465-477 (1996)
   PUBMED   8828036
REFERENCE   8  (bases 1 to 1833)
  AUTHORS   Kurban,M., El Feghaly,J. and Hamie,L.
  TITLE     NSDHL-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21290788
REFERENCE   9  (bases 1 to 1833)
  AUTHORS   Angel,T.A., Faust,C.J., Gonzales,J.C., Kenwrick,S., Lewis,R.A. and
            Herman,G.E.
  TITLE     Genetic mapping of the X-linked dominant mutations striated (Str)
            and bare patches (Bpa) to a 600-kb region of the mouse X
            chromosome: implications for mapping human disorders in Xq28
  JOURNAL   Mamm Genome 4 (3), 171-176 (1993)
   PUBMED   8439729
REFERENCE   10 (bases 1 to 1833)
  AUTHORS   Dawson,S.J. and White,L.A.
  TITLE     Treatment of Haemophilus aphrophilus endocarditis with
            ciprofloxacin
  JOURNAL   J Infect 24 (3), 317-320 (1992)
   PUBMED   1602151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U47105.2, BC007816.2 and
            U82671.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_015922.2.
            
            Summary: The protein encoded by this gene is localized in the
            endoplasmic reticulum and is involved in cholesterol biosynthesis.
            Mutations in this gene are associated with CHILD syndrome, which is
            a X-linked dominant disorder of lipid metabolism with disturbed
            cholesterol biosynthesis, and typically lethal in males.
            Alternatively spliced transcript variants with differing 5' UTR
            have been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the more
            predominant transcript. Transcript variants 1 and 2 encode the same
            protein.
            
            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 :: AK026549.1, SRR1803615.156504.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370274.8/ ENSP00000359297.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1466              U47105.2           97-1562
            1467-1467           BC007816.2         1534-1534
            1468-1833           U82671.5           158123-158488
FEATURES             Location/Qualifiers
     source          1..1833
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1833
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /note="NAD(P) dependent 3-beta-hydroxysteroid
                     dehydrogenase NSDHL"
                     /db_xref="GeneID:50814"
                     /db_xref="HGNC:HGNC:13398"
                     /db_xref="MIM:300275"
     exon            1..55
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     exon            56..206
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..1220
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /EC_number="1.1.1.170"
                     /note="short chain dehydrogenase/reductase family 31E,
                     member 1; protein H105e3; 3-beta-hydroxysteroid
                     dehydrogenase; epididymis secretory sperm binding protein;
                     NAD(P) dependent steroid dehydrogenase-like protein
                     transcript; 3beta-hydroxysteroid-4alpha-carboxylate
                     3-dehydrogenase (decarboxylating)"
                     /codon_start=1
                     /product="sterol-4-alpha-carboxylate 3-dehydrogenase,
                     decarboxylating"
                     /protein_id="NP_057006.1"
                     /db_xref="CCDS:CCDS14717.1"
                     /db_xref="GeneID:50814"
                     /db_xref="HGNC:HGNC:13398"
                     /db_xref="MIM:300275"
                     /translation="MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIG
                     GSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVF
                     HCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
                     DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEA
                     ARNGKMKFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFW
                     TFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQLQPTFTPMRVALAGT
                     FHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK"
     exon            207..365
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     exon            366..512
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     exon            513..641
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     exon            642..784
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     exon            785..887
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1833
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1445..1450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /note="hexamer: ATTATA"
     polyA_site      1467
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
                     /note="major polyA site"
     polyA_site      1833
                     /gene="NSDHL"
                     /gene_synonym="H105E3; SDR31E1; XAP104"
ORIGIN      
        1 agtgggtgca gcctgcttgc gagctgaggc cagacagggg ggcgcctacg gacggaaaag
       61 aaaagttgat tacaaacggg accatatttt gcttcgaaat ggaaccagca gttagcgagc
      121 caatgagaga ccaagtcgca cggactcatt tgacagagga cactcccaaa gtgaatgctg
      181 acatagaaaa ggttaaccag aatcaggcca agagatgcac agtgatcggt ggctctggat
      241 tcctggggca gcacatggtg gagcagttgc tggcaagagg atatgctgtc aatgtatttg
      301 atatccagca agggtttgat aatccccagg tgcggttctt tctgggtgac ctctgcagcc
      361 gacaggatct gtacccagct ctgaaaggtg taaacacagt tttccactgt gcgtcacccc
      421 caccatccag taacaacaag gagctctttt atagagtgaa ttacattggc accaagaatg
      481 tcattgaaac ttgcaaagag gctggggttc agaaactcat tttaaccagc agtgccagtg
      541 tcatctttga gggcgtcgat atcaagaatg gaactgaaga ccttccctat gccatgaaac
      601 ccattgacta ctacacagag actaagatct tacaggagag ggcagttctg ggcgccaacg
      661 atcctgagaa gaatttctta accacagcca tccgccctca tggcattttc ggcccaaggg
      721 acccgcagtt ggtacccatc ctcatcgagg cagccaggaa cggcaagatg aagttcgtga
      781 ttggaaatgg gaagaacttg gtggacttca cctttgtgga gaacgtggtc catggacaca
      841 tcctggcggc agagcagctc tcccgagact cgacactggg tgggaaggca tttcacatca
      901 ccaatgatga gcccatccct ttctggacat tcctgtctcg catcctgaca ggcctcaatt
      961 atgaggcccc caagtaccac atcccctact gggtggccta ctacctggcc ctcctgctat
     1021 ccctgctggt gatggtgatc agtcctgtca tccagctgca gcccaccttc acacccatgc
     1081 gggtcgcact ggctggcaca ttccactact acagctgcga gagagccaaa aaggccatgg
     1141 gctaccagcc actagtgacc atggatgatg ctatggagag gaccgtgcag agctttcgcc
     1201 acctgcggag ggtcaagtga gggacactgg aggctgggct ctctcgacac gttgctcagc
     1261 cagtcactcc ttcccctgtg gattgatgaa ataacatcct ttgaatgagt ttgctctgag
     1321 cctgtgactc cttctgctag gcagagagcg caccctactc tttccgtgac gatgagggcg
     1381 gcaaaaacag acatttcttc cttcatggaa ctggatttgg atttcttgaa gcaggcagct
     1441 tcatattata ccgatttgtt ctctgtcttt ttgtgtctct ctgtttaccc cctcccttgc
     1501 cccctcttct ggtttataca tttcattcca gtgtccttgt acataatcaa ggaagctgta
     1561 ggaagctaca acccatttgt tagttctgat ggagaaccat ttccatgcag accaatacta
     1621 gagtgaagcc tctagacttt gttcaagata ctctatcttc aaaatatccc agaagaaaaa
     1681 cagaagctgt taacacacag gtgagacttt acatatacat ttcatactga cagtgagctt
     1741 agagcaaaag ctgaaagctg aaatgactgt aattcctccc cagtctctgt tgcttgttca
     1801 actccttaca tgttccacat tctctttcag gta
//
