LOCUS       NM_148897               1789 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens short chain dehydrogenase/reductase family 9C member 7
            (SDR9C7), mRNA.
ACCESSION   NM_148897
VERSION     NM_148897.3
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 1789)
  AUTHORS   Youssefian,L., Niaziorimi,F., Saeidian,A.H., South,A.P.,
            Khosravi-Bachehmir,F., Khodavaisy,S., Vahidnezhad,H. and Uitto,J.
  TITLE     Knockdown of SDR9C7 Impairs Epidermal Barrier Function
  JOURNAL   J Invest Dermatol 141 (7), 1754-1764 (2021)
   PUBMED   33422619
  REMARK    GeneRIF: Knockdown of SDR9C7 Impairs Epidermal Barrier Function.
REFERENCE   2  (bases 1 to 1789)
  AUTHORS   Cheng,R., Liang,J., Li,Y., Zhang,J., Ni,C., Yu,H., Kong,X., Li,M.
            and Yao,Z.
  TITLE     Next-generation sequencing through multi-gene panel testing for
            diagnosis of hereditary ichthyosis in Chinese
  JOURNAL   Clin Genet 97 (5), 770-778 (2020)
   PUBMED   31953843
  REMARK    GeneRIF: Next-generation sequencing through multi-gene panel
            testing for diagnosis of hereditary ichthyosis in Chinese.
REFERENCE   3  (bases 1 to 1789)
  AUTHORS   Hotz,A., Fagerberg,C., Vahlquist,A., Bygum,A., Torma,H.,
            Rauschendorf,M.A., Zhang,H., Heinz,L., Bourrat,E., Hausser,I.,
            Vestergaard,V., Dragomir,A., Zimmer,A.D. and Fischer,J.
  TITLE     Identification of mutations in SDR9C7 in six families with
            autosomal recessive congenital ichthyosis
  JOURNAL   Br J Dermatol 178 (3), e207-e209 (2018)
   PUBMED   28906551
  REMARK    GeneRIF: The results strongly support the findings of previous
            studies,2-5 and thus provide further evidence that SDR9C7 is a
            novel causative gene for ARCI.
REFERENCE   4  (bases 1 to 1789)
  AUTHORS   Karim,N., Murtaza,G. and Naeem,M.
  TITLE     Whole-exome sequencing identified a novel frameshift mutation in
            SDR9C7 underlying autosomal recessive congenital ichthyosis in a
            Pakistani family
  JOURNAL   Br J Dermatol 177 (5), e191-e192 (2017)
   PUBMED   28369735
  REMARK    GeneRIF: The authors report a novel mutation in SDR9C7 responsible
            for ARCI in a Pakistani family.
REFERENCE   5  (bases 1 to 1789)
  AUTHORS   Shigehara,Y., Okuda,S., Nemer,G., Chedraoui,A., Hayashi,R.,
            Bitar,F., Nakai,H., Abbas,O., Daou,L., Abe,R., Sleiman,M.B.,
            Kibbi,A.G., Kurban,M. and Shimomura,Y.
  TITLE     Mutations in SDR9C7 gene encoding an enzyme for vitamin A
            metabolism underlie autosomal recessive congenital ichthyosis
  JOURNAL   Hum Mol Genet 25 (20), 4484-4493 (2016)
   PUBMED   28173123
  REMARK    GeneRIF: Missense mutations in SDR9C7 gene were identified in
            families with autosomal recessive congenital ichthyosis: two
            families shared an identical homozygous mutation c.599T > C
            (p.Ile200Thr) and one family had another homozygous mutation c.214C
            > T (p.Arg72Trp). The mutations severely affected a stability of
            the protein. In a patient's skin, SDR9C7 gene expression in the
            cornified layer was decreased.
REFERENCE   6  (bases 1 to 1789)
  AUTHORS   Kowalik,D., Haller,F., Adamski,J. and Moeller,G.
  TITLE     In search for function of two human orphan SDR enzymes:
            hydroxysteroid dehydrogenase like 2 (HSDL2) and short-chain
            dehydrogenase/reductase-orphan (SDR-O)
  JOURNAL   J Steroid Biochem Mol Biol 117 (4-5), 117-124 (2009)
   PUBMED   19703561
REFERENCE   7  (bases 1 to 1789)
  AUTHORS   Persson,B., Kallberg,Y., Bray,J.E., Bruford,E., Dellaporta,S.L.,
            Favia,A.D., Duarte,R.G., Jornvall,H., Kavanagh,K.L., Kedishvili,N.,
            Kisiela,M., Maser,E., Mindnich,R., Orchard,S., Penning,T.M.,
            Thornton,J.M., Adamski,J. and Oppermann,U.
  TITLE     The SDR (short-chain dehydrogenase/reductase and related enzymes)
            nomenclature initiative
  JOURNAL   Chem Biol Interact 178 (1-3), 94-98 (2009)
   PUBMED   19027726
REFERENCE   8  (bases 1 to 1789)
  AUTHORS   Chen,W., Song,M.S. and Napoli,J.L.
  TITLE     SDR-O: an orphan short-chain dehydrogenase/reductase localized at
            mouse chromosome 10/human chromosome 12
  JOURNAL   Gene 294 (1-2), 141-146 (2002)
   PUBMED   12234675
REFERENCE   9  (bases 1 to 1789)
  AUTHORS   Richard,G.
  TITLE     Autosomal Recessive Congenital Ichthyosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301593
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026120.33, AK122782.1 and
            BC101551.1.
            
            On Nov 22, 2018 this sequence version replaced NM_148897.2.
            
            Summary: This gene encodes a protein with similarity to the
            short-chain dehydrogenase/reductase (SDR) family but has not been
            shown to have retinoid or dehydrogenase activities. [provided by
            RefSeq, Apr 2010].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK122782.1, SRR3476690.1008873.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293502.2/ ENSP00000293502.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 AC026120.33        36309-36311         c
            4-107               AK122782.1         1-104
            108-1156            BC101551.1         1-1049
            1157-1649           AK122782.1         1154-1646
            1650-1650           AC026120.33        25175-25175         c
            1651-1768           AK122782.1         1648-1765
            1769-1789           AC026120.33        25036-25056         c
FEATURES             Location/Qualifiers
     source          1..1789
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..1789
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /note="short chain dehydrogenase/reductase family 9C
                     member 7"
                     /db_xref="GeneID:121214"
                     /db_xref="HGNC:HGNC:29958"
                     /db_xref="MIM:609769"
     exon            1..448
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /inference="alignment:Splign:2.1.0"
     CDS             148..1089
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /EC_number="1.1.1.-"
                     /note="retinol dehydrogenase similar protein; orphan
                     short-chain dehydrogenase / reductase; RDH-S; orphan
                     short-chain dehydrogenase/reductase"
                     /codon_start=1
                     /product="short-chain dehydrogenase/reductase family 9C
                     member 7"
                     /protein_id="NP_683695.1"
                     /db_xref="CCDS:CCDS8926.1"
                     /db_xref="GeneID:121214"
                     /db_xref="HGNC:HGNC:29958"
                     /db_xref="MIM:609769"
                     /translation="MAALTDLSFMYRWFKNCNLVGNLSEKYVFITGCDSGFGNLLAKQ
                     LVDRGMQVLAACFTEEGSQKLQRDTSYRLQTTLLDVTKSESIKAAAQWVRDKVGEQGL
                     WALVNNAGVGLPSGPNEWLTKDDFVKVINVNLVGLIEVTLHMLPMVKRARGRVVNMSS
                     SGGRVAVIGGGYCVSKFGVEAFSDSIRRELYYFGVKVCIIEPGNYRTAILGKENLESR
                     MRKLWERLPQETRDSYGEDYFRIYTDKLKNIMQVAEPRVRDVINSMEHAIVSRSPRIR
                     YNPGLDAKLLYIPLAKLPTPVTDFILSRYLPRPADSV"
     exon            449..707
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /inference="alignment:Splign:2.1.0"
     exon            708..871
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1789
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1758..1763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /note="hexamer: ATTAAA"
     polyA_site      1789
                     /gene="SDR9C7"
                     /gene_synonym="ARCI13; RDHS; SDR-O; SDRO"
                     /note="major polyA site"
ORIGIN      
        1 cctagatttg ttgcaagctg tgggaggaag gagagttctt cttccaggtg gtttcctgca
       61 gactgcctgc tagggctcag aggaccagct tcttccctgc tgtctcctga gcccagtccc
      121 tcttggccat cacattcccc ttgccctatg gcggccctca cagacctctc atttatgtat
      181 cgctggttca agaactgcaa tctggttggc aacctctcag agaagtacgt cttcatcaca
      241 ggctgtgact ctggcttcgg gaacctgctg gccaaacagc tggttgatcg gggcatgcag
      301 gtgctggctg cttgcttcac tgaggaggga tcccagaaac ttcagcggga tacctcctat
      361 cggctgcaga ccaccctact ggatgtcacc aagagcgaaa gcatcaaggc ggcggcccag
      421 tgggtgaggg acaaagtggg cgaacaaggc ctctgggccc tggtgaacaa tgctggtgtg
      481 ggcctgccca gtggtcccaa cgaatggctg accaaggatg actttgtgaa ggtgattaat
      541 gtgaacctgg tgggactgat cgaagtgacc cttcacatgc tgcccatggt caagagagcc
      601 cggggcaggg ttgtcaacat gtccagctct ggtggtcgtg tggctgtcat tggtggtggc
      661 tactgcgtct ccaagtttgg cgttgaggcc ttctctgaca gcataaggcg tgagctctac
      721 tactttgggg tgaaagtctg catcattgag ccagggaact atcggacagc cattctcggc
      781 aaggagaacc tggagtcacg catgcgaaag ctttgggaga ggctgcctca ggagacccgg
      841 gacagctacg gagaggatta tttccgcatc tatactgaca agttaaaaaa cataatgcag
      901 gtggcagagc ccagagtcag agatgtcatc aacagcatgg agcatgctat tgtttcccgg
      961 agccctcgca tccgctacaa ccctggcctg gatgccaaac tcctctacat ccctctggct
     1021 aagttgccca cccctgtgac agatttcatc ctaagccggt accttccaag gccagcggac
     1081 agtgtctaaa ctggggagga tcaatgggtc agtggagcct agaagtgggg gaggaaggaa
     1141 ggaccgtggg gtcacaaaag gtggtatcgg ttatcctggg ggcattggct gcaaaggaag
     1201 cttggctcag ctgacaccca ctgctgtcga atttaccagt aacttctaac agaaggtgaa
     1261 tgcctcttcc caccctctgg gaccccacag aaacctgagg tggtctttgc aggttcagcg
     1321 atctgcagca atagctccaa ggacgtctgt cacccaatca ggatacagct ttttctggtc
     1381 ctggaaaagt catggagaag aaaaccagct cctgtggaat catgagcccc tttcagttat
     1441 cactgccact gagaaatact gtgggataat cttgcctcca ggagaatcta accaccttcc
     1501 taatgggtcc ctcaatatgc ataacttcat tcacataacc cattactgaa gtatgcggta
     1561 gggcagatag ggagtgcaag attaaatcag acaaaagttt aaaatatttt ctttcttttt
     1621 agattcttct atctataggt tattgggatc cacatgaaat aacattcatt tatttaatca
     1681 ccattaattt ttcaaatatt tattgagtgc ctactaccta ccgggcactt tgtaggtgct
     1741 gggggaatat aaagatgatt aaatcatggt cttggttttt tattgttta
//
