LOCUS       NM_000883               2611 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens inosine monophosphate dehydrogenase 1 (IMPDH1),
            transcript variant 1, mRNA.
ACCESSION   NM_000883
VERSION     NM_000883.4
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 2611)
  AUTHORS   Wang,J., Wang,Y., Jiang,Y., Li,S., Jia,X., Xiao,X., Sun,W., Wang,P.
            and Zhang,Q.
  TITLE     Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for
            Dominant Retinitis Pigmentosa While Truncation Variants Are Likely
            Non-Pathogenic
  JOURNAL   Curr Eye Res 49 (8), 853-861 (2024)
   PUBMED   38604988
  REMARK    GeneRIF: Datasets-Based IMPDH1 Revisited: Heterozygous Missense
            Variants for Dominant Retinitis Pigmentosa While Truncation
            Variants Are Likely Non-Pathogenic.
REFERENCE   2  (bases 1 to 2611)
  AUTHORS   Nabi Afjadi,M., Yazdanparast,R. and Barzegari,E.
  TITLE     The Impact of Terminal Peptide Extensions of Retinal Inosine 5
            Monophosphate Dehydrogenase 1 Isoforms on their DNA-binding
            Activities
  JOURNAL   Protein J 43 (3), 592-602 (2024)
   PUBMED   38733555
  REMARK    GeneRIF: The Impact of Terminal Peptide Extensions of Retinal
            Inosine 5 Monophosphate Dehydrogenase 1 Isoforms on their
            DNA-binding Activities.
REFERENCE   3  (bases 1 to 2611)
  AUTHORS   Sakti,D.H., Cornish,E.E., Nash,B.M., Jamieson,R.V. and Grigg,J.R.
  TITLE     IMPDH1-associated autosomal dominant retinitis pigmentosa: natural
            history of novel variant Lys314Gln and a comprehensive literature
            search
  JOURNAL   Ophthalmic Genet 44 (5), 437-455 (2023)
   PUBMED   37259572
  REMARK    GeneRIF: IMPDH1-associated autosomal dominant retinitis pigmentosa:
            natural history of novel variant Lys314Gln and a comprehensive
            literature search.
            Review article
REFERENCE   4  (bases 1 to 2611)
  AUTHORS   Zhang,Q., Cui,K., Yang,X., He,Q., Yu,J., Yang,L., Yao,G., Guo,W.,
            Luo,Z., Liu,Y., Chen,Y., He,Z. and Lan,P.
  TITLE     c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating GTP
            metabolic reprogramming
  JOURNAL   Clin Transl Med 13 (1), e1164 (2023)
   PUBMED   36629054
  REMARK    GeneRIF: c-Myc-IMPDH1/2 axis promotes tumourigenesis by regulating
            GTP metabolic reprogramming.
REFERENCE   5  (bases 1 to 2611)
  AUTHORS   Kumaran,N., Pennesi,M.E., Yang,P., Trzupek,K.M., Schlechter,C.,
            Moore,A.T., Weleber,R.G. and Michaelides,M.
  TITLE     Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   30285347
REFERENCE   6  (bases 1 to 2611)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   7  (bases 1 to 2611)
  AUTHORS   Weleber,R.G., Francis,P.J., Trzupek,K.M. and Beattie,C.
  TITLE     Leber Congenital Amaurosis - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301475
REFERENCE   8  (bases 1 to 2611)
  AUTHORS   Collart,F.R., Chubb,C.B., Mirkin,B.L. and Huberman,E.
  TITLE     Increased inosine-5'-phosphate dehydrogenase gene expression in
            solid tumor tissues and tumor cell lines
  JOURNAL   Cancer Res 52 (20), 5826-5828 (1992)
   PUBMED   1356621
REFERENCE   9  (bases 1 to 2611)
  AUTHORS   Zalkin,H. and Dixon,J.E.
  TITLE     De novo purine nucleotide biosynthesis
  JOURNAL   Prog Nucleic Acid Res Mol Biol 42, 259-287 (1992)
   PUBMED   1574589
  REMARK    Review article
REFERENCE   10 (bases 1 to 2611)
  AUTHORS   Natsumeda,Y., Ohno,S., Kawasaki,H., Konno,Y., Weber,G. and
            Suzuki,K.
  TITLE     Two distinct cDNAs for human IMP dehydrogenase
  JOURNAL   J Biol Chem 265 (9), 5292-5295 (1990)
   PUBMED   1969416
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA566139.1, DC326380.1,
            AK092452.1, AK122994.1 and CD014010.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000883.3.
            
            Summary: The protein encoded by this gene acts as a homotetramer to
            regulate cell growth. The encoded protein is an enzyme that
            catalyzes the synthesis of xanthine monophosphate (XMP) from
            inosine-5'-monophosphate (IMP). This is the rate-limiting step in
            the de novo synthesis of guanine nucleotides. Defects in this gene
            are a cause of retinitis pigmentosa type 10 (RP10). Several
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Dec 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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 :: J05272.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338791.11/ ENSP00000345096.6
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-261               DA566139.1         1-261
            262-271             DC326380.1         243-252
            272-1655            AK092452.1         209-1592
            1656-2610           AK122994.1         1625-2579
            2611-2611           CD014010.1         2434-2434
FEATURES             Location/Qualifiers
     source          1..2611
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q32.1"
     gene            1..2611
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /note="inosine monophosphate dehydrogenase 1"
                     /db_xref="GeneID:3614"
                     /db_xref="HGNC:HGNC:6052"
                     /db_xref="MIM:146690"
     exon            1..227
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     CDS             82..1881
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /EC_number="1.1.1.205"
                     /note="isoform a is encoded by transcript variant 1; IMP
                     (inosine monophosphate) dehydrogenase 1;
                     inosine-5'-monophosphate dehydrogenase 1; IMPD 1; IMPDH 1;
                     IMP (inosine 5'-monophosphate) dehydrogenase 1"
                     /codon_start=1
                     /product="inosine-5'-monophosphate dehydrogenase 1 isoform
                     a"
                     /protein_id="NP_000874.2"
                     /db_xref="CCDS:CCDS34749.1"
                     /db_xref="GeneID:3614"
                     /db_xref="HGNC:HGNC:6052"
                     /db_xref="MIM:146690"
                     /translation="MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAG
                     YEPESPRLDLATHPTTPRSELSSVVLLAGVGVQMDRLRRASMADYLISGGTGYVPEDG
                     LTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTE
                     ADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEA
                     KMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAG
                     VTLKEANEILQRSKKGKLPIVNDCDELVAIIARTDLKKNRDYPLASKDSQKQLLCGAA
                     VGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTA
                     AQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADG
                     GIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKS
                     SSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRS
                     MMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY"
     exon            228..271
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            272..335
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            336..434
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            435..483
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            484..585
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            586..660
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            661..867
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            868..955
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1155
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1156..1246
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1342
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1343..1486
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1631
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1632..1775
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..1859
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     exon            1860..2611
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2580..2585
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /note="hexamer: AATAAA"
     polyA_site      2604
                     /gene="IMPDH1"
                     /gene_synonym="IMPD; IMPD1; IMPDH-I; LCA11; RP10;
                     sWSS2608"
                     /note="major polyA site"
ORIGIN      
        1 actcgaccgg gctgcgctca ctgcccagcc ggggccccgg gagcctccag gctcccgccc
       61 gccctgagct gcggcctccg catggagggg ccactcactc caccaccgct gcagggaggc
      121 ggagccgccg ctgttccgga gcccggagcc cggcaacacc cgggacacga gacggcggcg
      181 cagcggtaca gcgcccgact gctgcaggcc ggctacgagc ccgagagccc tagattggac
      241 ctcgctacac acccgacgac accccgttca gaactatctt cagtggtctt actggcaggt
      301 gttggtgtcc agatggatcg ccttcgcagg gctagcatgg cggactacct gatcagcggc
      361 ggcaccggct acgtgcccga ggatgggctc accgcgcagc agctcttcgc cagcgccgac
      421 ggcctcacct acaacgactt cctgattctc ccaggattca tagacttcat agctgatgag
      481 gtggacctga cctcagccct gacccggaag atcacgctga agacgccact gatctcctcc
      541 cccatggaca ctgtgacaga ggctgacatg gccattgcca tggctctgat gggaggtatt
      601 ggtttcattc accacaactg caccccagag ttccaggcca acgaggtgcg gaaggtcaag
      661 aagtttgaac agggcttcat cacggaccct gtggtgctga gcccctcgca cactgtgggc
      721 gatgtgctgg aggccaagat gcggcatggc ttctctggca tccccatcac tgagacgggc
      781 accatgggca gcaagctggt gggcatcgtc acctcccgag acatcgactt tcttgctgag
      841 aaggaccaca ccaccctcct cagtgaggtg atgacgccaa ggattgaact ggtggtggct
      901 ccagcaggtg tgacgttgaa agaggcaaat gagatcctgc agcgtagcaa gaaagggaag
      961 ctgcctatcg tcaatgattg cgatgagctg gtggccatca tcgcccgcac cgacctgaag
     1021 aagaaccgag actaccctct ggcctccaag gattcccaga agcagctgct ctgtggggca
     1081 gctgtgggca cccgtgagga tgacaaatac cgtctggacc tgctcaccca ggcgggcgtc
     1141 gacgtcatag tcttggactc gtcccaaggg aattcggtgt atcagatcgc catggtgcat
     1201 tacatcaaac agaagtaccc ccacctccag gtgattgggg ggaacgtggt gacagcagcc
     1261 caggccaaga acctgattga tgctggtgtg gacgggctgc gcgtgggcat gggctgcggc
     1321 tccatctgca tcacccagga agtgatggcc tgtggtcggc cccagggcac tgctgtgtac
     1381 aaggtggctg agtatgcccg gcgctttggt gtgcccatca tagccgatgg cggcatccag
     1441 accgtgggac acgtggtcaa ggccctggcc cttggagcct ccacagtgat gatgggctcc
     1501 ctgctggccg ccactacgga ggcccctggc gagtacttct tctcagacgg ggtgcggctc
     1561 aagaagtacc ggggcatggg ctcactggat gccatggaga agagcagcag cagccagaaa
     1621 cgatacttca gcgaggggga taaagtgaag atcgcgcagg gtgtctcggg ctccatccag
     1681 gacaaaggat ccattcagaa gttcgtgccc tacctcatag caggcatcca acacggctgc
     1741 caggatatcg gggcccgcag cctgtctgtc cttcggtcca tgatgtactc aggagagctc
     1801 aagtttgaga agcggaccat gtcggcccag attgagggtg gtgtccatgg cctgcactct
     1861 tacgaaaagc ggctgtactg aggacagcgg tggaggccga ggtggtggag gggatgcacc
     1921 ccagtgtcca cttttgggca cagcctccct ccataactga gtggtccaca gatttgcact
     1981 acgggttctc cagctccttt ccaggcagag aggaggggag gtcctgaggg gactgctgcc
     2041 cctcactcgg catcccctgc agagtcagga ctgctcccgg ggccaggctg ccctgggagc
     2101 ccccctccga gcccagccag ccaggctctc aggccctgcg cctgcctcag gtctttcttg
     2161 ctgcagcctg ctccagcctg gcccccaccc caggggcagg cggcccctcc tggcttctcc
     2221 tgtagggcac ctccctgccc ctagcctccc aggaaatggt gctctcctgg ccctgcctct
     2281 ggcccttccc gggccgctgc ccctcagcca tgtggcactt ctgagctcct gacctaggcc
     2341 aaggggaggt ctctgccccc ttccccggcc ctgggctacc cttgggtcct gctcctcagg
     2401 ccgctcccct gtccctggcc atgggtagga gactgccctg gtcatggccg cctgcctgtc
     2461 attcctgact caccaccgtc cccaggtgaa ccattcctcc cttctcctca gctgcagtcg
     2521 aaggctttaa ctttgcacac ttgggatcac agttgcgtca ttgtgtatta aatacttgga
     2581 ataaatcaag caggtctcaa cgcctccact a
//
