LOCUS       NM_005989               2684 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens aldo-keto reductase family 1 member D1 (AKR1D1),
            transcript variant 1, mRNA.
ACCESSION   NM_005989
VERSION     NM_005989.4
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 2684)
  AUTHORS   Zhao,J., Qiu,Y.L., Wang,L., Li,Z.D., Xie,X.B., Lu,Y.,
            Setchell,K.D.R., Cheng,Y., Xing,Q.H. and Wang,J.S.
  TITLE     Recurrent AKR1D1 c.580-13T>A Variant: A Cause of
            Delta4-3-Oxosteroid-5beta-Reductase Deficiency
  JOURNAL   J Mol Diagn 25 (4), 227-233 (2023)
   PUBMED   36739965
  REMARK    GeneRIF: Recurrent AKR1D1 c.580-13T>A Variant: A Cause of
            Delta[4]-3-Oxosteroid-5beta-Reductase Deficiency.
REFERENCE   2  (bases 1 to 2684)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2684)
  AUTHORS   Appanna,N., Gibson,H., Gangitano,E., Dempster,N.J., Morris,K.,
            George,S., Arvaniti,A., Gathercole,L.L., Keevil,B., Penning,T.M.,
            Storbeck,K.H., Tomlinson,J.W. and Nikolaou,N.
  TITLE     Differential activity and expression of human 5beta-reductase
            (AKR1D1) splice variants
  JOURNAL   J Mol Endocrinol 66 (3), 181-194 (2021)
   PUBMED   33502336
  REMARK    GeneRIF: Differential activity and expression of human
            5beta-reductase (AKR1D1) splice variants.
REFERENCE   4  (bases 1 to 2684)
  AUTHORS   Zhu,P., Feng,R., Lu,X., Liao,Y., Du,Z., Zhai,W. and Chen,K.
  TITLE     Diagnostic and prognostic values of AKR1C3 and AKR1D1 in
            hepatocellular carcinoma
  JOURNAL   Aging (Albany NY) 13 (3), 4138-4156 (2021)
   PUBMED   33493134
  REMARK    GeneRIF: Diagnostic and prognostic values of AKR1C3 and AKR1D1 in
            hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 2684)
  AUTHORS   Chen,J.Y., Wu,J.F., Kimura,A., Nittono,H., Liou,B.Y., Lee,C.S.,
            Chen,H.S., Chiu,Y.C., Ni,Y.H., Peng,S.S., Lee,W.T., Tsai,I.J.,
            Chang,M.H. and Chen,H.L.
  TITLE     AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile
            acid metabolism: Possibly underdiagnosed diseases
  JOURNAL   Pediatr Neonatol 61 (1), 75-83 (2020)
   PUBMED   31337596
  REMARK    GeneRIF: AKR1D1 and CYP7B1 mutations in patients with inborn errors
            of bile acid metabolism: Possibly underdiagnosed diseases.
REFERENCE   6  (bases 1 to 2684)
  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   7  (bases 1 to 2684)
  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   8  (bases 1 to 2684)
  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   9  (bases 1 to 2684)
  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
REFERENCE   10 (bases 1 to 2684)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z28339.1 and AC083867.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005989.3.
            
            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. Three transcript
            variants encoding different isoforms have been found for this gene.
            Other variants may be present, but their full-length natures have
            not been determined yet. [provided by RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: Z28339.1, BC130625.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000242375.8/ ENSP00000242375.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1045              Z28339.1           10-1054
            1046-2684           AC083867.7         5681-7319
FEATURES             Location/Qualifiers
     source          1..2684
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q33"
     gene            1..2684
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /note="aldo-keto reductase family 1 member D1"
                     /db_xref="GeneID:6718"
                     /db_xref="HGNC:HGNC:388"
                     /db_xref="MIM:604741"
     exon            1..153
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1041
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /EC_number="1.3.1.3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5
                     beta-steroid delta 4-dehydrogenase beta 1);
                     delta(4)-3-oxosteroid 5-beta-reductase;
                     delta(4)-3-ketosteroid 5-beta-reductase"
                     /codon_start=1
                     /product="aldo-keto reductase family 1 member D1 isoform
                     1"
                     /protein_id="NP_005980.1"
                     /db_xref="CCDS:CCDS5846.1"
                     /db_xref="GeneID:6718"
                     /db_xref="HGNC:HGNC:388"
                     /db_xref="MIM:604741"
                     /translation="MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVA
                     IDTGYRHIDGAYIYQNEHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTL
                     ERTLRVLQLDYVDLYIIEVPMAFKPGDEIYPRDENGKWLYHKSNLCATWEAMEACKDA
                     GLVKSLGVSNFNRRQLELILNKPGLKHKPVSNQVECHPYFTQPKLLKFCQQHDIVITA
                     YSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFN
                     LERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY"
     exon            154..321
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            322..438
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            439..516
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            517..639
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            640..749
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            750..915
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            916..998
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     exon            999..2684
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2658..2663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /note="hexamer: AATAAA"
     polyA_site      2684
                     /gene="AKR1D1"
                     /gene_synonym="3o5bred; CBAS2; SRD5B1"
                     /note="major polyA site"
ORIGIN      
        1 acctttctaa aaagactccc tgtggtgttc agaatcactc ctacagtcag gttctccaca
       61 atggatctca gtgctgcaag tcaccgcata cctctaagtg atggaaacag cattcccatc
      121 atcggacttg gtacctactc agaacctaaa tcgaccccta agggagcctg tgcaacatcg
      181 gtgaaggttg ctattgacac agggtaccga catattgatg gggcctacat ctaccaaaat
      241 gaacacgaag ttggggaggc catcagggag aagatagcag aaggaaaggt gcggagggaa
      301 gatatcttct actgtggaaa gctatgggct acaaatcatg tcccagagat ggtccgccca
      361 accctggaga ggacactcag ggtcctccag ctagattatg tggatcttta catcattgaa
      421 gtacccatgg cctttaagcc aggagatgaa atatacccta gagatgagaa tggcaaatgg
      481 ttatatcaca agtcaaatct gtgtgccact tgggaggcga tggaagcttg caaagacgct
      541 ggcttggtga aatccctggg agtgtccaat tttaaccgca ggcagctgga gctcatcctg
      601 aacaagccag gactcaaaca caagccagtc agcaaccagg ttgagtgcca tccgtatttc
      661 acccagccaa aactcttgaa attttgccaa caacatgaca ttgtcattac tgcatatagc
      721 cctttgggga ccagtaggaa tccaatctgg gtgaatgttt cttctccacc tttgttaaag
      781 gatgcacttc taaactcatt ggggaaaagg tacaataaga cagcagctca aattgttttg
      841 cgtttcaaca tccagcgagg ggtggttgtc attcctaaaa gctttaatct tgaaaggatc
      901 aaagaaaatt ttcagatctt tgacttttct ctcactgaag aagaaatgaa ggacattgaa
      961 gccttgaata aaaatgtccg ctttgtagaa ttgctcatgt ggcgcgatca tcctgaatac
     1021 ccatttcatg atgaatactg actgcaggga gttcctgaac agatttttca ctcccacgag
     1081 tgccaagacg gtgcaatggg tagtccccta gatgtgaaaa tgaagagaga gggttttacc
     1141 atcctgagaa gaaataatga tggaaacatg tttaatgttt gtgcagtgta aatgactttg
     1201 actcagtcac attgaagtaa aaatattaaa atctgttgaa ataactctta ggaaattatc
     1261 aactaatttt ttcagatcag tatcttctag attccagaca gaaaaaaatt acacttcaga
     1321 aaagacatca aaggcaacat atgacaacaa gtaatttatg aatctgggta gtagcgttgg
     1381 taatctgagt tctttaaggg ttaacaggac aacgaagtgc atgtggcagt gtgctggcag
     1441 tggccttgag gctttggacc attggttaca aaacagacac agccaagata agatccacac
     1501 acacattatt aacaaggaag tgatttgctg caccttgagt tgagagggct acatgtagaa
     1561 aagtcttaaa atagagctaa acaccacagt ggtcaacaaa gccatcataa tgttggtgtt
     1621 tgtttccctc caatgtatgt atgtttagtt tttatccaac ctgaggaatg aaaacttaac
     1681 tggatctctc ttgcatcctt aaagggcctg agtctcaaca tggctgctga tccatactta
     1741 cacatcttac tgtcaatctt gcctacattg attatagaac cactattacg tgaaaaggct
     1801 tgaaacaacc aacatataca aataaaaccc tgccttgtaa aatagtaaaa gagaagccat
     1861 atattggctt ttcttcttaa cttgggagat atattgaaac aaggtgcttt ataagattat
     1921 tgtacttaag actttaatag tgttacttgg atagcttata tgaattttga gaattttata
     1981 tgaattttga gaaagcaagt tcaaaagaac tctggtaatt ttcctgtatg tacaatttaa
     2041 agagtgaata agattattag aattcagcaa tagagatata tctattttca attcaactac
     2101 agaaatatat tttattggcc gggtgcggtg gctcatgcct ataatcccag cactttggga
     2161 ggccaaggtg ggcagatcag gaggtcagga gatcgagacc atcttggcta acaaggtgaa
     2221 accccgtctc tactaaaaat acaaaaaatt agccaggcgc ggtggcgggg gcctgtaatc
     2281 ccagctactc aggaggctga ggcagaagaa tggcatgaac ccgggaggag gagcttgcag
     2341 tgagccgaga tagcgccact gcagtccggc ctgggtgaaa gagcgagact ccgtctcaaa
     2401 aacaaaaaaa aaagaaaaga aatatatttt attcattcac attaggtcac tgtcatactg
     2461 tcataggatg agagagttct tcaaaaatta tgttttccca agatcagttg cttatagata
     2521 atgttcaatg acctcaagac atatattttt gagaaattat cattttaaaa aatttggtct
     2581 atactgattg ttttcactga ttccaatatt attacttata acactgacct ctggaaaata
     2641 ttttgttcac aagaaataat aaagtataat gatttgttgc atca
//
