LOCUS       NM_173474               1210 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens N-terminal asparagine amidase (NTAN1), transcript
            variant 1, mRNA.
ACCESSION   NM_173474 XM_936638 XM_942894
VERSION     NM_173474.4
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 1210)
  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   2  (bases 1 to 1210)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1210)
  AUTHORS   Guan,W., Steffen,B.T., Lemaitre,R.N., Wu,J.H.Y., Tanaka,T.,
            Manichaikul,A., Foy,M., Rich,S.S., Wang,L., Nettleton,J.A.,
            Tang,W., Gu,X., Bandinelli,S., King,I.B., McKnight,B., Psaty,B.M.,
            Siscovick,D., Djousse,L., Chen,Y.I., Ferrucci,L., Fornage,M.,
            Mozafarrian,D., Tsai,M.Y. and Steffen,L.M.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   4  (bases 1 to 1210)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   5  (bases 1 to 1210)
  AUTHORS   Cantor,J.R., Stone,E.M. and Georgiou,G.
  TITLE     Expression and biochemical characterization of the human enzyme
            N-terminal asparagine amidohydrolase
  JOURNAL   Biochemistry 50 (14), 3025-3033 (2011)
   PUBMED   21375249
  REMARK    GeneRIF: Results indicate that hNTAN1 is highly selective for the
            hydrolysis of N-terminal peptidyl L-Asn.
REFERENCE   6  (bases 1 to 1210)
  AUTHORS   Ingason,A., Rujescu,D., Cichon,S., Sigurdsson,E., Sigmundsson,T.,
            Pietilainen,O.P., Buizer-Voskamp,J.E., Strengman,E., Francks,C.,
            Muglia,P., Gylfason,A., Gustafsson,O., Olason,P.I., Steinberg,S.,
            Hansen,T., Jakobsen,K.D., Rasmussen,H.B., Giegling,I., Moller,H.J.,
            Hartmann,A., Crombie,C., Fraser,G., Walker,N., Lonnqvist,J.,
            Suvisaari,J., Tuulio-Henriksson,A., Bramon,E., Kiemeney,L.A.,
            Franke,B., Murray,R., Vassos,E., Toulopoulou,T., Muhleisen,T.W.,
            Tosato,S., Ruggeri,M., Djurovic,S., Andreassen,O.A., Zhang,Z.,
            Werge,T., Ophoff,R.A., Rietschel,M., Nothen,M.M., Petursson,H.,
            Stefansson,H., Peltonen,L., Collier,D., Stefansson,K. and St
            Clair,D.M.
  CONSRTM   GROUP Investigators
  TITLE     Copy number variations of chromosome 16p13.1 region associated with
            schizophrenia
  JOURNAL   Mol Psychiatry 16 (1), 17-25 (2011)
   PUBMED   19786961
REFERENCE   7  (bases 1 to 1210)
  AUTHORS   Okada,Y., Kamatani,Y., Takahashi,A., Matsuda,K., Hosono,N.,
            Ohmiya,H., Daigo,Y., Yamamoto,K., Kubo,M., Nakamura,Y. and
            Kamatani,N.
  TITLE     A genome-wide association study in 19 633 Japanese subjects
            identified LHX3-QSOX2 and IGF1 as adult height loci
  JOURNAL   Hum Mol Genet 19 (11), 2303-2312 (2010)
   PUBMED   20189936
REFERENCE   8  (bases 1 to 1210)
  AUTHORS   Kamdem,L.K., Hamilton,L., Cheng,C., Liu,W., Yang,W., Johnson,J.A.,
            Pui,C.H. and Relling,M.V.
  TITLE     Genetic predictors of glucocorticoid-induced hypertension in
            children with acute lymphoblastic leukemia
  JOURNAL   Pharmacogenet Genomics 18 (6), 507-514 (2008)
   PUBMED   18496130
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY036316.1 and BC017336.2.
            
            On Nov 24, 2018 this sequence version replaced NM_173474.3.
            
            Summary: The protein encoded by this gene functions in a step-wise
            process of protein degradation through the N-end rule pathway. This
            protein acts as a tertiary destabilizing enzyme that deamidates
            N-terminal L-Asn residues on proteins to produce N-terminal L-Asp.
            L-Asp substrates are subsequently conjugated to L-Arg, which is
            recognized by specific E3 ubiquitin ligases and targeted to the
            proteasome. Pseudogenes of this gene are located on the long arms
            of chromosomes 8, 10 and 12. Alternative splicing results in
            multiple transcript variants that encode different protein
            isoforms. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) represents the longesr
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163657.574757.1,
                                           SRR1163655.137300.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2146236
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287706.8/ ENSP00000287706.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                HY036316.1         7-104
            99-1210             BC017336.2         1-1112
FEATURES             Location/Qualifiers
     source          1..1210
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.11"
     gene            1..1210
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /note="N-terminal asparagine amidase"
                     /db_xref="GeneID:123803"
                     /db_xref="HGNC:HGNC:29909"
                     /db_xref="MIM:615367"
     exon            1..184
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1036
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /EC_number="3.5.1.121"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein N-terminal asparagine amidohydrolase; protein
                     NTN-amidase; protein N-terminal Asn amidase; protein
                     NH2-terminal asparagine deamidase; protein N-terminal
                     asparagine amidase"
                     /codon_start=1
                     /product="protein N-terminal asparagine amidohydrolase
                     isoform 1"
                     /protein_id="NP_775745.1"
                     /db_xref="CCDS:CCDS10558.1"
                     /db_xref="GeneID:123803"
                     /db_xref="HGNC:HGNC:29909"
                     /db_xref="MIM:615367"
                     /translation="MPLLVEGRRVRLPQSAGDLVRAHPPLEERARLLRGQSVQQVGPQ
                     GLLYVQQRELAVTSPKDGSISILGSDDATTCHIVVLRHTGNGATCLTHCDGTDTKAEV
                     PLIMNSIKSFSDHAQCGRLEVHLVGGFSDDRQLSQKLTHQLLSEFDRQEDDIHLVTLC
                     VTELNDREENENHFPVIYGIAVNIKTAEIYRASFQDRGPEEQLRAARTLAGGPMISIY
                     DAETEQLRIGPYSWTPFPHVDFWLHQDDKQILENLSTSPLAEPPHFVEHIRSTLMFLK
                     KHPSPAHTLFSGNKALLYKKNEDGLWEKISSPGS"
     exon            185..287
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            288..353
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            354..462
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            463..536
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            537..590
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            591..644
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            645..742
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            743..856
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1210
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1189..1194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /note="hexamer: AATAAA"
     polyA_site      1210
                     /gene="NTAN1"
                     /gene_synonym="PNAA; PNAD"
                     /note="major polyA site"
ORIGIN      
        1 gaggcgggac gcgcggcccg aggggcgggg gcggcgggcg gcccggggct gcaaagcggg
       61 gggccgccgc ctccctgggc ctgcctgggc ggccgcctcc gcgatgccgc tgctcgtcga
      121 ggggcggcga gtgcggctgc cgcagtcagc cggggacctc gtccgagccc acccgccttt
      181 ggaggaaaga gccagacttc tcagaggtca gtctgttcaa caagtgggac cccagggcct
      241 tctgtatgtt cagcaaagag agcttgcagt gacctcccca aaggatggct ccatctccat
      301 tctgggttct gatgatgcca ctacttgtca cattgtggtc ctgaggcaca caggtaatgg
      361 ggccacctgc ttgacacatt gtgacggaac cgacaccaaa gctgaggtcc ccttgatcat
      421 gaactccata aaatcctttt ctgaccacgc tcaatgtgga aggctggaag tacaccttgt
      481 tggaggcttc agtgacgaca ggcagttgtc acaaaaactc actcatcaac ttcttagtga
      541 atttgacagg caagaagatg acattcactt agtgacatta tgtgtgacag aattaaatga
      601 ccgggaagaa aacgaaaacc actttccagt aatatatggc attgctgtca acattaagac
      661 tgcagagatt tacagagcat cctttcaaga tcggggtccg gaggagcagc ttcgtgctgc
      721 gcgaacttta gcaggaggac caatgattag catttatgat gcagagacag aacaacttcg
      781 tataggaccg tactcctgga caccatttcc acatgtggat ttctggttgc accaagatga
      841 caagcaaata ctagagaatc tttccacttc gcctctggct gagccacccc actttgttga
      901 acatattaga tctaccttga tgtttttaaa aaaacaccca tctccagctc acacactgtt
      961 ttctggaaat aaagccctac tctacaaaaa aaatgaagat ggcttgtggg aaaagatctc
     1021 ttctccagga agttaaaaaa catgaattac caaagaaagc accttcttgg cctgacagac
     1081 cattggtggg gctggcacga atccagatct ggatcctaca tctgttgggt cttaggcctc
     1141 cttccctcct cagtgtcttt caaatgactt tcatcaaatg actttcaaaa taaaacctta
     1201 ttttggcaaa
//
