LOCUS       NP_005980                326 aa            linear   PRI 24-OCT-2008
DEFINITION  aldo-keto reductase family 1, member D1 [Homo sapiens].
ACCESSION   NP_005980
VERSION     NP_005980.1  GI:5174695
DBSOURCE    REFSEQ: accession NM_005989.2
KEYWORDS    .
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 326)
  AUTHORS   Di Costanzo,L., Drury,J.E., Penning,T.M. and Christianson,D.W.
  TITLE     Crystal structure of human liver Delta4-3-ketosteroid
            5beta-reductase (AKR1D1) and implications for substrate binding and
            catalysis
  JOURNAL   J. Biol. Chem. 283 (24), 16830-16839 (2008)
   PUBMED   18407998
  REMARK    GeneRIF: analysis of human liver Delta4-3-ketosteroid
            5beta-reductase (AKR1D1) crystal structure and implications for
            substrate binding and catalysis
REFERENCE   2  (residues 1 to 326)
  AUTHORS   Sheehan,P.M., Rice,G.E., Moses,E.K. and Brennecke,S.P.
  TITLE     5 Beta-dihydroprogesterone and steroid 5 beta-reductase decrease in
            association with human parturition at term
  JOURNAL   Mol. Hum. Reprod. 11 (7), 495-501 (2005)
   PUBMED   16123077
  REMARK    GeneRIF: In placenta and myometrium, relative expression decreased
            significantly in association with labour, by about two-fold and
            10-fold, respectively. These data are consistent with a possible
            role for 5betaDHP in the onset of spontaneous human labour.
REFERENCE   3  (residues 1 to 326)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat. Biotechnol. 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   4  (residues 1 to 326)
  AUTHORS   Charbonneau,A. and The,V.L.
  TITLE     Genomic organization of a human 5beta-reductase and its pseudogene
            and substrate selectivity of the expressed enzyme
  JOURNAL   Biochim. Biophys. Acta 1517 (2), 228-235 (2001)
   PUBMED   11342103
REFERENCE   5  (residues 1 to 326)
  AUTHORS   Charbonneau,A. and Luu-The,V.
  TITLE     Assignment of steroid 5beta-reductase (SRD5B1) and its pseudogene
            (SRD5BP1) to human chromosome bands 7q32-->q33 and 1q23-->q25,
            respectively, by in situ hybridization
  JOURNAL   Cytogenet. Cell Genet. 84 (1-2), 105-106 (1999)
   PUBMED   10343119
REFERENCE   6  (residues 1 to 326)
  AUTHORS   Sumazaki,R., Nakamura,N., Shoda,J., Kurosawa,T. and Tohma,M.
  TITLE     Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency
  JOURNAL   Lancet 349 (9048), 329 (1997)
   PUBMED   9024384
REFERENCE   7  (residues 1 to 326)
  AUTHORS   Kondo,K.H., Kai,M.H., Setoguchi,Y., Eggertsen,G., Sjoblom,P.,
            Setoguchi,T., Okuda,K.I. and Bjorkhem,I.
  TITLE     Cloning and expression of cDNA of human delta 4-3-oxosteroid 5
            beta-reductase and substrate specificity of the expressed enzyme
  JOURNAL   Eur. J. Biochem. 219 (1-2), 357-363 (1994)
   PUBMED   7508385
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z28339.1, BG210362.1 and CB111926.1.
            
            Summary: The enzyme encoded by this gene is responsible for the
            catalysis of the 5-beta-reduction of bile acid intermediates and
            steroid hormones carrying a delta(4)-3-one structure.  Deficiency
            of this enzyme may contribute to hepatic dysfunction. [provided by
            RefSeq].
FEATURES             Location/Qualifiers
     source          1..326
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32-q33"
     Protein         1..326
                     /product="aldo-keto reductase family 1, member D1"
                     /EC_number="1.3.1.3"
                     /note="steroid 5-beta-reductase; steroid-5-beta-reductase,
                     beta polypeptide 1 (3-oxo-5 beta-steroid delta
                     4-dehydrogenase beta 1)"
                     /calculated_mol_wt=37246
     CDS             1..326
                     /gene="AKR1D1"
                     /gene_synonym="SRD5B1"
                     /gene_synonym="3o5bred"
                     /coded_by="NM_005989.2:70..1050"
                     /db_xref="CCDS:CCDS5846.1"
                     /db_xref="GeneID:6718"
                     /db_xref="HGNC:388"
                     /db_xref="HPRD:07263"
                     /db_xref="MIM:604741"
ORIGIN      
        1 mdlsaashri plsdgnsipi iglgtysepk stpkgacats vkvaidtgyr hidgayiyqn
       61 ehevgeaire kiaegkvrre difycgklwa tnhvpemvrp tlertlrvlq ldyvdlyiie
      121 vpmafkpgde iyprdengkw lyhksnlcat weameackda glvkslgvsn fnrrqlelil
      181 nkpglkhkpv snqvechpyf tqpkllkfcq qhdivitays plgtsrnpiw vnvssppllk
      241 dallnslgkr ynktaaqivl rfniqrgvvv ipksfnleri kenfqifdfs lteeemkdie
      301 alnknvrfve llmwrdhpey pfhdey
//