LOCUS       NM_024640               1848 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens yrdC N6-threonylcarbamoyltransferase domain containing
            (YRDC), mRNA.
ACCESSION   NM_024640
VERSION     NM_024640.4
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 1848)
  AUTHORS   Shi,B., An,K., Wang,Y., Fei,Y., Guo,C., Cliff Zhang,Q., Yang,Y.G.,
            Tian,X. and Kan,Q.
  TITLE     RNA Structural Dynamics Modulate EGFR-TKI Resistance Through
            Controlling YRDC Translation in NSCLC Cells
  JOURNAL   Genomics Proteomics Bioinformatics 21 (4), 850-865 (2023)
   PUBMED   36435452
  REMARK    GeneRIF: RNA Structural Dynamics Modulate EGFR-TKI Resistance
            Through Controlling YRDC Translation in NSCLC Cells.
REFERENCE   2  (bases 1 to 1848)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   3  (bases 1 to 1848)
  AUTHORS   Schmidt,J., Goergens,J., Pochechueva,T., Kotter,A., Schwenzer,N.,
            Sitte,M., Werner,G., Altmuller,J., Thiele,H., Nurnberg,P.,
            Isensee,J., Li,Y., Muller,C., Leube,B., Reinhardt,H.C., Hucho,T.,
            Salinas,G., Helm,M., Jachimowicz,R.D., Wieczorek,D., Kohl,T.,
            Lehnart,S.E., Yigit,G. and Wollnik,B.
  TITLE     Biallelic variants in YRDC cause a developmental disorder with
            progeroid features
  JOURNAL   Hum Genet 140 (12), 1679-1693 (2021)
   PUBMED   34545459
  REMARK    GeneRIF: Biallelic variants in YRDC cause a developmental disorder
            with progeroid features.
REFERENCE   4  (bases 1 to 1848)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   5  (bases 1 to 1848)
  AUTHORS   Arrondel,C., Missoury,S., Snoek,R., Patat,J., Menara,G.,
            Collinet,B., Liger,D., Durand,D., Gribouval,O., Boyer,O.,
            Buscara,L., Martin,G., Machuca,E., Nevo,F., Lescop,E., Braun,D.A.,
            Boschat,A.C., Sanquer,S., Guerrera,I.C., Revy,P., Parisot,M.,
            Masson,C., Boddaert,N., Charbit,M., Decramer,S., Novo,R.,
            Macher,M.A., Ranchin,B., Bacchetta,J., Laurent,A.,
            Collardeau-Frachon,S., van Eerde,A.M., Hildebrandt,F., Magen,D.,
            Antignac,C., van Tilbeurgh,H. and Mollet,G.
  TITLE     Defects in t6A tRNA modification due to GON7 and YRDC mutations
            lead to Galloway-Mowat syndrome
  JOURNAL   Nat Commun 10 (1), 3967 (2019)
   PUBMED   31481669
  REMARK    GeneRIF: Mutations in YRDC cause an extremely severe form of
            Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease
            characterized by early-onset steroid-resistant nephrotic syndrome
            and microcephaly.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1848)
  AUTHORS   Lin,H., Miyauchi,K., Harada,T., Okita,R., Takeshita,E., Komaki,H.,
            Fujioka,K., Yagasaki,H., Goto,Y.I., Yanaka,K., Nakagawa,S.,
            Sakaguchi,Y. and Suzuki,T.
  TITLE     CO2-sensitive tRNA modification associated with human mitochondrial
            disease
  JOURNAL   Nat Commun 9 (1), 1875 (2018)
   PUBMED   29760464
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1848)
  AUTHORS   Prokopenko,O. and Mirochnitchenko,O.
  TITLE     Ischemia-reperfusion-inducible protein modulates cell sensitivity
            to anticancer drugs by regulating activity of efflux transporter
  JOURNAL   Am J Physiol Cell Physiol 296 (5), C1086-C1097 (2009)
   PUBMED   19279227
  REMARK    GeneRIF: hIRIP expression can regulate cargo assembly and function
            of efflux transporters, including P-glycoprotein, which mediates
            one of the most common mechanisms of the multidrug resistance
REFERENCE   8  (bases 1 to 1848)
  AUTHORS   Jiang,W., Prokopenko,O., Wong,L., Inouye,M. and Mirochnitchenko,O.
  TITLE     IRIP, a new ischemia/reperfusion-inducible protein that
            participates in the regulation of transporter activity
  JOURNAL   Mol Cell Biol 25 (15), 6496-6508 (2005)
   PUBMED   16024787
REFERENCE   9  (bases 1 to 1848)
  AUTHORS   Chen,J., Ji,C., Gu,S., Zhao,E., Dai,J., Huang,L., Qian,J., Ying,K.,
            Xie,Y. and Mao,Y.
  TITLE     Isolation and identification of a novel cDNA that encodes human
            yrdC protein
  JOURNAL   J Hum Genet 48 (4), 164-169 (2003)
   PUBMED   12730717
  REMARK    GeneRIF: a novel cDNA that encodes a putative human protein with
            yrdC domain
REFERENCE   10 (bases 1 to 1848)
  AUTHORS   Lai,E., Wilson,R.K. and Hood,L.E.
  TITLE     Physical maps of the mouse and human immunoglobulin-like loci
  JOURNAL   Adv Immunol 46, 1-59 (1989)
   PUBMED   2675563
  REMARK    Review article
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL929472.21, AL524812.3 and AY172561.1.
            
            On Nov 23, 2018 this sequence version replaced NM_024640.3.
            
            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 :: BC080186.1, ERR279843.1817.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151887, SAMEA2153031
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000373044.3/
                                                  ENSP00000362135.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AL929472.21        36920-36934         c
            16-23               AL524812.3         35-42
            24-1848             AY172561.1         1-1825
FEATURES             Location/Qualifiers
     source          1..1848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..1848
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /note="yrdC N6-threonylcarbamoyltransferase domain
                     containing"
                     /db_xref="GeneID:79693"
                     /db_xref="HGNC:HGNC:28905"
                     /db_xref="MIM:612276"
     exon            1..417
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..868
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /EC_number="2.7.7.87"
                     /note="yrdC domain-containing protein, mitochondrial;
                     dopamine receptor interacting protein 3;
                     ischemia/reperfusion inducible protein; hIRIP;
                     ischemia/reperfusion-inducible protein homolog; yrdC
                     domain containing; yrdC N(6)-threonylcarbamoyltransferase
                     domain containing; threonylcarbamoyl-AMP synthase"
                     /codon_start=1
                     /product="threonylcarbamoyl-AMP synthase precursor"
                     /protein_id="NP_078916.3"
                     /db_xref="CCDS:CCDS30675.1"
                     /db_xref="GeneID:79693"
                     /db_xref="HGNC:HGNC:28905"
                     /db_xref="MIM:612276"
                     /translation="MSPARRCRGMRAAVAASVGLSEGPAGSRSGRLFRPPSPAPAAPG
                     ARLLRLPGSGAVQAASPERAGWTEALRAAVAELRAGAVVAVPTDTLYGLACAASCSAA
                     LRAVYRLKGRSEAKPLAVCLGRVADVYRYCRVRVPEGLLKDLLPGPVTLVMERSEELN
                     KDLNPFTPLVGIRIPDHAFMQDLAQMFEGPLALTSANLSSQASSLNVEEFQDLWPQLS
                     LVIDGGQIGDGQSPECRLGSTVVDLSVPGKFGIIRPGCALESTTAILQQKYGLLPSHA
                     SYL"
     exon            418..532
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /inference="alignment:Splign:2.1.0"
     exon            533..652
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /inference="alignment:Splign:2.1.0"
     exon            653..795
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /inference="alignment:Splign:2.1.0"
     exon            796..1848
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1182..1187
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /note="hexamer: ATTAAA"
     polyA_site      1205
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /note="major polyA site"
     regulatory      1828..1833
                     /regulatory_class="polyA_signal_sequence"
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /note="hexamer: ATTAAA"
     polyA_site      1848
                     /gene="YRDC"
                     /gene_synonym="DRIP3; GAMOS10; IRIP; SUA5"
                     /note="major polyA site"
ORIGIN      
        1 acttcctccc ggaagcgggc ctgggcggat gtctccggcg cgtcggtgca gggggatgag
       61 ggccgcggtg gctgccagcg tggggttgag cgaggggcct gctggctccc ggagcggtcg
      121 cctcttccgc ccgccgagtc ccgctccggc ggcccccggc gcccggctgt tgcggctccc
      181 ggggagcggg gccgtgcagg ccgcgagccc ggagcgcgcc ggctggaccg aggcgctgcg
      241 ggccgccgtg gccgagctgc gcgccggcgc cgtggtggcc gtccccaccg atacgctgta
      301 cggcctggcc tgcgcggcga gctgctcggc ggctctgcgc gctgtgtacc gcctcaaggg
      361 tcgcagcgag gccaagcctc tggccgtatg cctcggccgc gtggccgacg tctacagata
      421 ctgccgtgtg agagtacctg aggggctcct gaaagaccta ctgccaggac cagtgaccct
      481 ggtgatggaa cgctcggagg agctcaacaa ggacctaaac ccttttacgc ctcttgtagg
      541 cattcggatt cctgatcatg cttttatgca agacttggct cagatgtttg agggtccgct
      601 tgctctcact agtgccaacc tcagctccca ggccagttct ctgaatgtcg aggagttcca
      661 ggatctctgg cctcagttgt ccttggttat tgatggggga caaattgggg atggccagag
      721 ccccgagtgt cgccttggct caactgtggt tgatttgtct gtgcccggaa agtttggcat
      781 cattcgtcca ggctgtgccc tggaaagtac tacagccatc ctccaacaga agtacggact
      841 gctcccctca catgcgtcct acctgtgaaa ctctgggaag caggaaggcc caagacctgg
      901 tgctggatac tatgtgtctg tccactgacg actgtcaagg cctcatttgc agaggccacc
      961 ggagctaggg cactagcctg acttttaagg cagtgtgtct ttctgagcac tgtagaccaa
     1021 gcccttggag ctgctggttt agccttgcac ctggggaaag gatgtattta tttgtatttt
     1081 catatatcag ccaaaagctg aatggaaaag ttaagaacat tcctaggtgg ccttattcta
     1141 ataagtttct tctgtctgtt ttgtttttca attgaaaagt aattaaataa cagatttaga
     1201 atctagtgag agcctcctct ctggtgggtg gtggcattta aggttcaaac cagccagaag
     1261 tgctggtgct gtttaaaaag tctcaggtgg ctgcgtgtgg tggctcatgc ctgtaatccc
     1321 aacattctgg gaggcccagg cgggagaact gcttgagccc aggagttcag aatcagcctg
     1381 ggcaacatag caatactccg tctcataaaa attaataaat aaaaagtctc aggtgaccaa
     1441 aggctcctga agctagaacc aggtttggat aaagattgaa gagccacagg ccactcttcc
     1501 ctctgagcca ttgggcctag tggtgtcatg tattgtaatt gctcgcaggg agagcagtct
     1561 ttttggtgta atagtgggat gtctgcttag ttggcagggg ttcagtccaa atggaagaat
     1621 attgggaaat aaacctccac tatcctttat agccagggac ttttttctta tttattcata
     1681 aaataaatta tagttaatta tacccataac acctttattt aaatccagtg ttctccgcag
     1741 ccttttgtct atttatatgt gtaccaagtg ttaaacataa ttattattgg gcatttgaac
     1801 tttgtttttc tttaaagaaa tgctgctatt aaacatattt gtaaatgg
//
