LOCUS       NM_152435               2226 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.
ACCESSION   NM_152435
VERSION     NM_152435.3
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 2226)
  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 2226)
  AUTHORS   Jiang,X., O'Reilly,P.F., Aschard,H., Hsu,Y.H., Richards,J.B.,
            Dupuis,J., Ingelsson,E., Karasik,D., Pilz,S., Berry,D.,
            Kestenbaum,B., Zheng,J., Luan,J., Sofianopoulou,E., Streeten,E.A.,
            Albanes,D., Lutsey,P.L., Yao,L., Tang,W., Econs,M.J.,
            Wallaschofski,H., Volzke,H., Zhou,A., Power,C., McCarthy,M.I.,
            Michos,E.D., Boerwinkle,E., Weinstein,S.J., Freedman,N.D.,
            Huang,W.Y., Van Schoor,N.M., van der Velde,N., Groot,L.C.P.G.M.,
            Enneman,A., Cupples,L.A., Booth,S.L., Vasan,R.S., Liu,C.T.,
            Zhou,Y., Ripatti,S., Ohlsson,C., Vandenput,L., Lorentzon,M.,
            Eriksson,J.G., Shea,M.K., Houston,D.K., Kritchevsky,S.B., Liu,Y.,
            Lohman,K.K., Ferrucci,L., Peacock,M., Gieger,C., Beekman,M.,
            Slagboom,E., Deelen,J., Heemst,D.V., Kleber,M.E., Marz,W., de
            Boer,I.H., Wood,A.C., Rotter,J.I., Rich,S.S., Robinson-Cohen,C.,
            den Heijer,M., Jarvelin,M.R., Cavadino,A., Joshi,P.K., Wilson,J.F.,
            Hayward,C., Lind,L., Michaelsson,K., Trompet,S., Zillikens,M.C.,
            Uitterlinden,A.G., Rivadeneira,F., Broer,L., Zgaga,L., Campbell,H.,
            Theodoratou,E., Farrington,S.M., Timofeeva,M., Dunlop,M.G.,
            Valdes,A.M., Tikkanen,E., Lehtimaki,T., Lyytikainen,L.P.,
            Kahonen,M., Raitakari,O.T., Mikkila,V., Ikram,M.A., Sattar,N.,
            Jukema,J.W., Wareham,N.J., Langenberg,C., Forouhi,N.G.,
            Gundersen,T.E., Khaw,K.T., Butterworth,A.S., Danesh,J., Spector,T.,
            Wang,T.J., Hypponen,E., Kraft,P. and Kiel,D.P.
  TITLE     Genome-wide association study in 79,366 European-ancestry
            individuals informs the genetic architecture of 25-hydroxyvitamin D
            levels
  JOURNAL   Nat Commun 9 (1), 260 (2018)
   PUBMED   29343764
  REMARK    GeneRIF: This larger GWAS yields two loci harboring genome-wide
            significant variants affecting serum 25-hydroxyvitamin D levels (P
            = 4.7x10(-9) at rs8018720 in SEC23A, and P = 1.9x10(-14) at
            rs10745742 in AMDHD1).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2226)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   4  (bases 1 to 2226)
  AUTHORS   Song,Y., Ahn,J., Suh,Y., Davis,M.E. and Lee,K.
  TITLE     Identification of novel tissue-specific genes by analysis of
            microarray databases: a human and mouse model
  JOURNAL   PLoS One 8 (5), e64483 (2013)
   PUBMED   23741331
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2226)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC126174.9, AK122802.1, BC029146.1 and AB075878.1.
            
            On Nov 22, 2018 this sequence version replaced NM_152435.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK054617.1, AK122802.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145122
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266736.7/ ENSP00000266736.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               AC126174.9         50206-50322
            118-821             AK122802.1         123-826
            822-1490            BC029146.1         796-1464
            1491-2098           AB075878.1         1484-2091
            2099-2226           AC126174.9         75468-75595
FEATURES             Location/Qualifiers
     source          1..2226
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q23.1"
     gene            1..2226
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /note="amidohydrolase domain containing 1"
                     /db_xref="GeneID:144193"
                     /db_xref="HGNC:HGNC:28577"
                     /db_xref="MIM:620863"
     exon            1..205
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     CDS             69..1349
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /EC_number="3.5.2.7"
                     /note="amidohydrolase domain-containing protein 1"
                     /codon_start=1
                     /product="probable imidazolonepropionase"
                     /protein_id="NP_689648.2"
                     /db_xref="CCDS:CCDS9057.1"
                     /db_xref="GeneID:144193"
                     /db_xref="HGNC:HGNC:28577"
                     /db_xref="MIM:620863"
                     /translation="MASGHSLLLENAQQVVLVCARGERFLARDALRSLAVLEGASLVV
                     GKDGFIKAIGPADVIQRQFSGETFEEIIDCSGKCILPGLVDAHTHPVWAGERVHEFAM
                     KLAGATYMEIHQAGGGIHFTVERTRQATEEELFRSLQQRLQCMMRAGTTLVECKSGYG
                     LDLETELKMLRVIERARRELDIGISATYCGAHSVPKGKTATEAADDIINNHLPKLKEL
                     GRNGEIHVDNIDVFCEKGVFDLDSTRRILQRGKDIGLQINFHGDELHPMKAAELGAEL
                     GAQAISHLEEVSDEGIVAMATARCSAILLPTTAYMLRLKQPRARKMLDEGVIVALGSD
                     FNPNAYCFSMPMVMHLACVNMRMSMPEALAAATINAAYALGKSHTHGSLEVGKQGDLI
                     IINSSRWEHLIYQFGGHHELIEYVIAKGKLIYKT"
     exon            206..312
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            313..377
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            378..655
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            656..881
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1006
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1100
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..1261
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..2226
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2075..2080
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /note="hexamer: AATAAA"
     polyA_site      2098
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /note="major polyA site"
     regulatory      2202..2207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
                     /note="hexamer: TATAAA"
     polyA_site      2226
                     /gene="AMDHD1"
                     /gene_synonym="HMFT1272"
ORIGIN      
        1 gtcctccact gagtcctgcc ggtggcccga gcccggtggc ctcccggcga ccctcggcgc
       61 gaggcgacat ggcaagcggc cacagcctcc tgctggagaa cgcgcagcaa gtggtgctgg
      121 tgtgcgcccg cggcgagcgc ttcctggcgc gggatgcgct gcgcagcctg gcggtgctgg
      181 aaggcgccag cctggtggtg ggcaaagatg gatttataaa agctattggt cctgctgatg
      241 ttattcaaag acagttttct ggagaaactt ttgaagaaat aattgactgc tctgggaaat
      301 gtattctacc aggtttggtg gatgcacaca cacatccagt atgggctggt gaaagagttc
      361 acgaatttgc aatgaagttg gcaggagcca cctacatgga aattcaccag gccggaggag
      421 ggatccactt taccgtggag cgcacgcgcc aagccacaga ggaggagctg ttccgctcct
      481 tgcagcaacg gctccagtgc atgatgaggg ctggcaccac gctggtggag tgcaagagtg
      541 gatatggcct cgacctggag accgagctca agatgctgcg cgtgattgag cgcgcccggc
      601 gggagctgga catcggcatc tcggctacct actgcggggc tcattcagtg cctaaaggaa
      661 aaactgctac tgaagctgct gatgacatca tcaataacca cctcccaaag ctgaaggaac
      721 ttggcagaaa tggggaaata cacgtggaca atatagacgt attttgtgag aaaggtgtct
      781 ttgatctcga ttccaccaga aggattcttc aacgtggaaa agatataggg ttacagatta
      841 acttccatgg ggatgaactc cacccgatga aggctgctga gcttggggct gaactgggag
      901 cgcaggcaat cagccacctg gaagaagtga gtgatgaagg catcgttgcc atggcaacgg
      961 ccaggtgctc tgccatcctt ctgcccacca cagcctacat gctgagactg aaacaacctc
     1021 gagccaggaa gatgttagat gaaggagtaa tagttgctct gggaagtgat ttcaacccca
     1081 atgcatattg cttttcaatg ccaatggtca tgcatctggc ctgtgtaaac atgagaatgt
     1141 ccatgcctga ggccttggcc gctgccacca tcaatgcagc ttatgcactg ggaaagtctc
     1201 acacacacgg atcgttggaa gttggcaaac agggagatct cattatcatc aattcatccc
     1261 gatgggagca tttgatttac cagttcggag gccatcatga attaattgaa tatgttatag
     1321 ctaaaggaaa actcatctat aaaacatgat agatttgaaa agagaagact ttttgactat
     1381 atgaaataag tcaatatagt tatattaaaa gttaaaacac cttaatattt acaagaatta
     1441 tatcacttaa acctaaatgt acttcaatgt ctttttaagt cactcaaaaa acccaaggga
     1501 tagatttatt ttcatttaac acatgcattt gacatataaa caggtaaacc tattgtgatt
     1561 aaaatcacaa aacatccaat tagttcacaa atattggtta caaatattct gtagattaat
     1621 atggtggggt atcacaaaaa tgcctttgtg gggaaaagta ggcttggctt aaaatttcca
     1681 ttttgtgtct gtatttcaca tctcagtttt taaactatat ttagtgaaca ttgagggatc
     1741 gaaagaaatc taagtgatac gccccaatga agctaaaata tagccttctg ttaagcaaat
     1801 agtatttcct ttccccaagt agttcatttt ctagatgctt gtcaaatgaa ttaatgtcct
     1861 ctgatgaaga gtgtccttcc gtttctaagg tcttctcaat ctcagcaata gagcttccca
     1921 gcagcgttca agacacatca tttatacaca ggcacagggg ccttcctgaa atgggtgcat
     1981 ttttaccaac tacaatcatg taattttttt ggaaattttt taaaattttc gattctttac
     2041 attacaattg ggtgaaacac attttacagc tctcaataaa tgtttgctgt cgctcttatt
     2101 gttgttgttt cctttcagcc tggaagtaga tcagcagcgt tgtctattag agtttttagg
     2161 aaattacaaa attatttgta aagagtcgat aattatttac atataaatgg gtgtttttaa
     2221 aagcca
//
