LOCUS       NM_004293               5367 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens guanine deaminase (GDA), transcript variant 2, mRNA.
ACCESSION   NM_004293 XM_928059 XM_937035
VERSION     NM_004293.5
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 5367)
  AUTHORS   Li,X., Chen,F., Ju,J., Yin,X., Yang,Z., Li,Z. and Sun,Q.
  TITLE     Long Non-Coding RNA-GDA-1 Promotes Keratinocyte Proliferation and
            Psoriasis Inflammation by Regulating the STAT3/NF-kappaB Signaling
            Pathway via Forkhead Box M1
  JOURNAL   Inflammation 46 (4), 1209-1220 (2023)
   PUBMED   36943641
  REMARK    GeneRIF: Long Non-Coding RNA-GDA-1 Promotes Keratinocyte
            Proliferation and Psoriasis Inflammation by Regulating the
            STAT3/NF-kappaB Signaling Pathway via Forkhead Box M1.
REFERENCE   2  (bases 1 to 5367)
  AUTHORS   Jung,J.M., Noh,T.K., Jo,S.Y., Kim,S.Y., Song,Y., Kim,Y.H. and
            Chang,S.E.
  TITLE     Guanine Deaminase in Human Epidermal Keratinocytes Contributes to
            Skin Pigmentation
  JOURNAL   Molecules 25 (11), 2637 (2020)
   PUBMED   32517074
  REMARK    GeneRIF: Guanine Deaminase in Human Epidermal Keratinocytes
            Contributes to Skin Pigmentation.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5367)
  AUTHORS   Cheong,K.A. and Lee,A.Y.
  TITLE     Guanine Deaminase Stimulates Ultraviolet-induced Keratinocyte
            Senescence in Seborrhoeic Keratosis via Guanine Metabolites
  JOURNAL   Acta Derm Venereol 100 (8), adv00109 (2020)
   PUBMED   32215662
  REMARK    GeneRIF: Guanine Deaminase Stimulates Ultraviolet-induced
            Keratinocyte Senescence in Seborrhoeic Keratosis via Guanine
            Metabolites.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5367)
  AUTHORS   Patel,M.V., Swiatkowski,P., Kwon,M., Rodriguez,A.R., Campagno,K.
            and Firestein,B.L.
  TITLE     A Novel Short Isoform of Cytosolic PSD-95 Interactor (Cypin)
            Regulates Neuronal Development
  JOURNAL   Mol Neurobiol 55 (8), 6269-6281 (2018)
   PUBMED   29294243
REFERENCE   5  (bases 1 to 5367)
  AUTHORS   Kubo,K., Honda,H., Honda,H., Sannomiya,K., Aying,Y., Mei,W., Mi,S.,
            Aoyagi,E., Simizu,I., Ii,K. and Ito,S.
  TITLE     Histochemical and immunohistochemical investigation of guanase and
            nedasin in human tissues
  JOURNAL   J Med Invest 53 (3-4), 264-270 (2006)
   PUBMED   16953063
  REMARK    GeneRIF: since the histochemical staining of guanase and
            immunohistochemical staining of nedasin overlapped in many regions,
            guanase is presumed to be involved in signal transduction in organs
            similar to nedasin
REFERENCE   6  (bases 1 to 5367)
  AUTHORS   Kuwahara,H., Araki,N., Makino,K., Masuko,N., Honda,S., Kaibuchi,K.,
            Fukunaga,K., Miyamoto,E., Ogawa,M. and Saya,H.
  TITLE     A novel NE-dlg/SAP102-associated protein, p51-nedasin, related to
            the amidohydrolase superfamily, interferes with the association
            between NE-dlg/SAP102 and N-methyl-D-aspartate receptor
  JOURNAL   J Biol Chem 274 (45), 32204-32214 (1999)
   PUBMED   10542258
REFERENCE   7  (bases 1 to 5367)
  AUTHORS   Firestein,B.L., Firestein,B.L., Brenman,J.E., Aoki,C.,
            Sanchez-Perez,A.M., El-Husseini,A.E. and Bredt,D.S.
  TITLE     Cypin: a cytosolic regulator of PSD-95 postsynaptic targeting
  JOURNAL   Neuron 24 (3), 659-672 (1999)
   PUBMED   10595517
REFERENCE   8  (bases 1 to 5367)
  AUTHORS   Yuan,G., Bin,J.C., McKay,D.J. and Snyder,F.F.
  TITLE     Cloning and characterization of human guanine deaminase.
            Purification and partial amino acid sequence of the mouse protein
  JOURNAL   J Biol Chem 274 (12), 8175-8180 (1999)
   PUBMED   10075721
REFERENCE   9  (bases 1 to 5367)
  AUTHORS   Ito,S., Iwasaki,A., Syundo,J., Tamura,Y., Kishi,S., Mori,H., Ii,K.,
            Matsuda,Y. and Katsunuma,N.
  TITLE     Characterization of antibody against human liver guanase by
            immunoblotting and immunohistochemical staining of human liver
            guanase by a direct labeling antibody-enzyme method
  JOURNAL   J Histochem Cytochem 37 (5), 611-615 (1989)
   PUBMED   2649557
REFERENCE   10 (bases 1 to 5367)
  AUTHORS   Gupta,N.K. and Glantz,M.D.
  TITLE     Isolation and characterization of human liver guanine deaminase
  JOURNAL   Arch Biochem Biophys 236 (1), 266-276 (1985)
   PUBMED   3966794
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC053584.1, AB033084.1,
            AL135924.11, AK023729.1 and AF019638.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_004293.4.
            
            Summary: This gene encodes an enzyme responsible for the hydrolytic
            deamination of guanine. Studies in rat ortholog suggest this gene
            plays a role in microtubule assembly. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (2) differs in the 3' UTR and
            coding sequence compared to variant 1. The resulting isoform (b) is
            shorter at the C-terminus compared to 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 :: SRR1660805.69515.1,
                                           SRR1803617.139856.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358399.8/ ENSP00000351170.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1678              BC053584.1         64-1741
            1679-2113           AB033084.1         1635-2069
            2114-2114           AL135924.11        157468-157468       c
            2115-3156           AB033084.1         2071-3112
            3157-3304           AL135924.11        156278-156425       c
            3305-4775           AB033084.1         3260-4730
            4776-5327           AK023729.1         1447-1998
            5328-5367           AF019638.1         1980-2019
FEATURES             Location/Qualifiers
     source          1..5367
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.13"
     gene            1..5367
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /note="guanine deaminase"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
     exon            1..243
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1485
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /EC_number="3.5.4.3"
                     /note="isoform b is encoded by transcript variant 2;
                     p51-nedasin; guanine aminase; guanine aminohydrolase;
                     cytoplasmic PSD95 interactor; cytoplasmic PSD-95
                     interactor"
                     /codon_start=1
                     /product="guanine deaminase isoform b"
                     /protein_id="NP_004284.1"
                     /db_xref="CCDS:CCDS6641.1"
                     /db_xref="GeneID:9615"
                     /db_xref="HGNC:HGNC:4212"
                     /db_xref="MIM:139260"
                     /translation="MCAAQMPPLAHIFRGTFVHSTWTCPMEVLRDHLLGVSDSGKIVF
                     LEEASQQEKLAKEWCFKPCEIRELSHHEFFMPGLVDTHIHASQYSFAGSSIDLPLLEW
                     LTKYTFPAEHRFQNIDFAEEVYTRVVRRTLKNGTTTACYFATIHTDSSLLLADITDKF
                     GQRAFVGKVCMDLNDTFPEYKETTEESIKETERFVSEMLQKNYSRVKPIVTPRFSLSC
                     SETLMGELGNIAKTRDLHIQSHISENRDEVEAVKNLYPSYKNYTSVYDKNNLLTNKTV
                     MAHGCYLSAEELNVFHERGASIAHCPNSNLSLSSGFLNVLEVLKHEVKIGLGTDVAGG
                     YSYSMLDAIRRAVMVSNILLINKVNEKSLTLKEVFRLATLGGSQALGLDGEIGNFEVG
                     KEFDAILINPKASDSPIDLFYGDFFGDISEAVIQKFLYLGDDRNIEEVYVGGKQVVPF
                     SSSV"
     exon            244..332
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            333..504
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            505..592
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            593..698
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            699..726
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            727..834
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            835..942
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            943..1040
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1041..1108
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1255
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1386
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1387..1414
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1415..5367
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5341..5346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /note="hexamer: AATAAA"
     polyA_site      5367
                     /gene="GDA"
                     /gene_synonym="CYPIN; GAH; GUANASE; NEDASIN"
                     /note="major polyA site"
ORIGIN      
        1 aggacaaggc cggagcctgt gtccgcccgg cagccgcccg cagctgcaga gagtcccgct
       61 gcgtctccgc cgcgtgcgcc ctcctcgacc agcagacccg cgctgcgctc cgccgctgac
      121 atgtgtgccg ctcagatgcc gcccctggcg cacatcttcc gagggacgtt cgtccactcc
      181 acctggacct gccccatgga ggtgctgcgg gatcacctcc tcggcgtgag cgacagcggc
      241 aaaatagtgt ttttagaaga agcatctcaa caggaaaaac tggccaaaga atggtgcttc
      301 aagccgtgtg aaataagaga actgagccac catgagttct tcatgcctgg gctggttgat
      361 acacacatcc atgcctctca gtattccttt gctggaagta gcatagacct gccactcttg
      421 gagtggctga ccaagtacac atttcctgca gaacacagat tccagaacat cgactttgca
      481 gaagaagtat ataccagagt tgtcaggaga acactaaaga atggaacaac cacagcttgt
      541 tactttgcaa caattcacac tgactcatct ctgctccttg ccgacattac agataaattt
      601 ggacagcggg catttgtggg caaagtttgc atggatttga atgacacttt tccagaatac
      661 aaggagacca ctgaggaatc gatcaaggaa actgagagat ttgtgtcaga aatgctccaa
      721 aagaactatt ctagagtgaa gcccatagtg acaccacgtt tttccctctc ctgctctgag
      781 actttgatgg gtgaactggg caacattgct aaaacccgtg atttgcacat tcagagccat
      841 ataagtgaaa atcgtgatga agttgaagct gtgaaaaact tataccccag ttataaaaac
      901 tacacatctg tgtatgataa aaacaatctt ttgacaaata agacagtgat ggcacacggc
      961 tgctacctct ctgcagaaga actgaacgta ttccatgaac gaggagcatc catcgcacac
     1021 tgtcccaatt ctaatttatc gctcagcagt ggatttctaa atgtgctaga agtcctgaaa
     1081 catgaagtca agatagggct gggtacagac gtggctggtg gctattcata ttccatgctt
     1141 gatgcaatca gaagagcagt gatggtttcc aatatccttt taattaataa ggtaaatgag
     1201 aaaagcctca ccctcaaaga agtcttcaga ctagctactc ttggaggaag ccaagccctg
     1261 gggctggatg gtgagattgg aaactttgaa gtgggcaagg aatttgatgc catcctgatc
     1321 aaccccaaag catccgactc tcccattgac ctgttttatg gggacttttt tggtgatatt
     1381 tctgaggctg ttatccagaa gttcctctat ctaggagatg atcgaaatat tgaagaggtt
     1441 tatgtgggcg gaaagcaggt ggttccgttt tccagctcag tgtaagaccc tcgggcgtct
     1501 acaaagttct cctgggatta gcgtggttct gcatctccct tgtgcccagg tggagttaga
     1561 aagtcaaaaa atagtacctt gttcttggga tgactatccc tttctgtgtc tagttacagt
     1621 attcacttga caaatagttc gaaggaagtt gcactaattc tcaactctgg ttgagagggt
     1681 tcataaattt catgaaaata tctccctttg gagctgctca gacttacttt aagctcaaac
     1741 agaagggaat gctattactg gtggtgttcc tacggtaaga cttaagcaaa gcctttttca
     1801 tatttgaaaa tgtggaaaga aaagatgttc ctaaaaggtt agatattttg agctaataat
     1861 tgcaaaaatt agaagactga aaatggaccc atgagagtat atttttatga gggagcaaaa
     1921 gttagactga gaacaaacgt tagaaaatca cttcagattg tgtttgaaaa ttatatactg
     1981 agcatactaa tttaaaaaga gaacttgttg aaatttaaaa cgtgtttcta ggttgacctt
     2041 gtgttttaga aatttgcact taatggaatt tgcatttcag agatgtgtta gtgttgtgct
     2101 ttgccttctt tggcgatgaa tgtcagaaat tgaatgccac atgctttcat aatatagttt
     2161 tgtgcttcaa agtgtttgac agaagttggg tattaaagat ttaaagtctc ttaggaatat
     2221 tattcatgta actccatggc ataaatagtt gtatttttgt gtactttaaa atcaacttat
     2281 aactgtgaga tgttattgct tccattttat tagaagagaa acaaattcca tgctttatgg
     2341 aatttatgta gactggagtc ttcgtgaact ggggcaaatg ctggcatcca ggagccgcca
     2401 atactaacag gacaggttcc attgccatgg cctattccac ccaaacaata tgttgtagtt
     2461 tctggaaatt ccatactcag atatcagtct gctagaactt taaaatgaag gacaaatcct
     2521 gttaaagaaa tattgttaaa aatctttaaa ccctgtgtat tgaaagcact ctattttcta
     2581 attttatcca gttttctgtt taactcctta taatgtttag gatattaaaa ttttaggata
     2641 atgaagagta cataatgtcc tacttaatat ttatgttaat aggacttaat tcttactaga
     2701 catctaggaa cattacaaag caaagactat ttttatgctt ccataaccta gaattaaaac
     2761 caaattatga ccttatgata aatctttaag tattggtgtg aatgttattt aaattctata
     2821 tttttcttat ttaattacaa atactataaa tgagcaagga aaaggaatag actttcttaa
     2881 tatattataa cactcattcc tagagcttag gggtgactct ttaatattac cttatagtag
     2941 aaactttatg taatatagct aactccgtat ttacagaaca aaaaaacaca gttccccctc
     3001 ctgtagtata aattttattt tcacatactt agctaattta gcagtaattg gcccagtttt
     3061 ttccctaata gaaatacttt tagatttgat tatgtataca tgacacctaa agagggaaca
     3121 aaagttagtt ttattttttt aataaacaac agagtttgtt ttgtgagata agtatcttag
     3181 taaacccaat ttccagtctt agtctgtatt tccaatattt ctaattcctg agccacgtca
     3241 aagatgcctt gccaaatttc tccccatttc tctacggggc tagcaaaaat cttcagcttt
     3301 atcactcaac ccctgccaaa ggaacttgat tacatggtgt ctaaccaaat gagcaggctt
     3361 aggaatttag atgagatgtg taagattcac ttacaggcag tagctgcttc tagcatttgc
     3421 aagatcctac acttttacct tctttaaggg tgtacatttt gatgttgaac atcagttttc
     3481 atgtagactt aggactcatg tgcagtaaat ataaataagt gtagcatcag aagcagtagg
     3541 aatggccgta tacaaccatc ctgttaaaca tttaaattta gctctgatag tgtgttaaga
     3601 cctgaatatc tttcctagta aaaataggat gtgttgaaat atttatatgt actttgatct
     3661 ctccacatca cttataactt atgtgtttta tttctccaag tgcggtgttc ctgaatgtta
     3721 tgtatgcttt tttttctgta ccacaggcat tatctatacc tggggccaga ttttctgcac
     3781 tttgaaatgt tgcctttgcc taatgtaggt tgactttctg aattgtggag aggcactttt
     3841 ccaagccaat cttatttgtc actttttgtt ttaatatctt gctctctgac aggaaagaaa
     3901 caattcactt accagcctcc tcaccccatc ctccaccatt tccttaatgt tccatggtat
     3961 tttcaacgga atacactttg aaaggtaaaa acaattcaaa agtatcgatt atcataaatt
     4021 cacaaaatat ttttgcaacc agaacacaaa agcaggctag tcagctaagg taaatttcat
     4081 tttcaaacga gagggaaaca tgggaagtaa aagattagga tgtgaaaggt tgtcctaaac
     4141 agaccaagga gactgttccc taatttattc tcttggctgg ttctctcatt gaattatcag
     4201 accccaagag gagatattgg aacaggctcc cttcatgcca agggtctttc taagttaata
     4261 ctgtgagcat tgagccccca ttaaaactct tttttacttc agaaagaatt ttacaggtta
     4321 aagggaaaga aatggtggga aactctcccc gtaatgctta gccaacttta aagtgtaccc
     4381 ttcaatatcc ccattggcaa ctgcagctga gatcttagag aggaaatata accggtgtga
     4441 gatctagcaa tgcattttga atcttcactc cctaccaggc tcttcctatt tttaatctct
     4501 tcacctcaga actagacata tggagagctt taaaggcaag ctggaaggca cattgtatca
     4561 attctacctt gtgctatacg taggagagat ccaaaatttg gatgcttctg gagactctta
     4621 gacatctttt cattgttgtc catttttaaa gttgatgatt gctggaaaca ttcacacgct
     4681 taaaagcaat ggtgtgagtt attaatgggt aaactaagaa gtgttatagg caatgacttg
     4741 aaatggtttt taaattgtat ggattgttaa gaattgttga aaaaaaattt tttttttttg
     4801 gacagcttca aggagatgtt agcaatttca gatatactag ccagtttagg tatgactttg
     4861 gaagtgcaga aacagaagga tactgttaga aaatcctaac attggtctcc gtgcatgtgt
     4921 tcacacctgg tctcactgcc tttccttccc acagacctga gtgtgaaaga ctgagagttg
     4981 aggagttact ttgtggatct tgtccaaatt tagtgaaatg tggaagtcaa ccagaccaat
     5041 gatggaatta aatgtaaatt ccaagagggc tttcacagtc cacagggttc aaatgacttg
     5101 ggtaacagaa gttattctta gcttacctgt tatgtgacag tgatttacct gtccatttcc
     5161 aacccaaaag cctgtcagaa agcattcttt agagaaaacc actttacatt tgttgttaaa
     5221 ctcctgatcg ctactcttaa gaatatacat gtatgtattc ataggaacat tttttctcaa
     5281 tatttgtatg attcgcttac tgttattgtg ctgagtgagc tcctgtgtgc ttcagacaaa
     5341 aataaatgag actttgtgtt tacgtta
//
