LOCUS       NM_001330449            3172 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens amidohydrolase domain containing 2 (AMDHD2),
            transcript variant 3, mRNA.
ACCESSION   NM_001330449 XM_017023262
VERSION     NM_001330449.2
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 3172)
  AUTHORS   Kroef,V., Ruegenberg,S., Horn,M., Allmeroth,K., Ebert,L.,
            Bozkus,S., Miethe,S., Elling,U., Schermer,B., Baumann,U. and
            Denzel,M.S.
  TITLE     GFPT2/GFAT2 and AMDHD2 act in tandem to control the hexosamine
            pathway
  JOURNAL   Elife 11, e69223 (2022)
   PUBMED   35229715
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3172)
  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   3  (bases 1 to 3172)
  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   4  (bases 1 to 3172)
  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   5  (bases 1 to 3172)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 3172)
  AUTHORS   Bergfeld,A.K., Pearce,O.M., Diaz,S.L., Pham,T. and Varki,A.
  TITLE     Metabolism of vertebrate amino sugars with N-glycolyl groups:
            elucidating the intracellular fate of the non-human sialic acid
            N-glycolylneuraminic acid
  JOURNAL   J Biol Chem 287 (34), 28865-28881 (2012)
   PUBMED   22692205
REFERENCE   7  (bases 1 to 3172)
  AUTHORS   de Mateo,S., Castillo,J., Estanyol,J.M., Ballesca,J.L. and Oliva,R.
  TITLE     Proteomic characterization of the human sperm nucleus
  JOURNAL   Proteomics 11 (13), 2714-2726 (2011)
   PUBMED   21630459
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC093525.3 and BC018734.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001330449.1.
            
            Transcript Variant: This variant (3) encodes the shortest isoform
            (3).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.156044.1,
                                           SRR1803613.177779.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000293971.11/ ENSP00000293971.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AC093525.3         72699-72869         c
            172-308             AC093525.3         72335-72471         c
            309-448             AC093525.3         72117-72256         c
            449-503             AC093525.3         65625-65679         c
            504-716             AC093525.3         65255-65467         c
            717-805             AC093525.3         65092-65180         c
            806-950             AC093525.3         64860-65004         c
            951-1058            AC093525.3         64681-64788         c
            1059-1127           AC093525.3         64522-64590         c
            1128-1229           AC093525.3         64145-64246         c
            1230-1359           AC093525.3         63636-63765         c
            1360-1486           BC018734.1         1395-1521
            1487-3172           AC093525.3         61823-63508         c
FEATURES             Location/Qualifiers
     source          1..3172
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3172
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="amidohydrolase domain containing 2"
                     /db_xref="GeneID:51005"
                     /db_xref="HGNC:HGNC:24262"
                     /db_xref="MIM:620864"
     exon            1..171
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1318
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /EC_number="3.5.1.25"
                     /note="isoform 3 is encoded by transcript variant 3;
                     putative N-acetylglucosamine-6-phosphate deacetylase;
                     glcNAc 6-P deacetylase; amidohydrolase domain-containing
                     protein 2"
                     /codon_start=1
                     /product="N-acetylglucosamine-6-phosphate deacetylase
                     isoform 3"
                     /protein_id="NP_001317378.1"
                     /db_xref="CCDS:CCDS81936.1"
                     /db_xref="GeneID:51005"
                     /db_xref="HGNC:HGNC:24262"
                     /db_xref="MIM:620864"
                     /translation="MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKL
                     FFEERRVADERRDCGGRILAPGFIDVQINGGFGVDFSQATEDVGSGVALVARRILSHG
                     VTSFCPTLVTSPPEVYHKVVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHL
                     RSFEADAFQDLLATYGPLDNVRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRA
                     AEDAVWSGATFITHLFNAMLPFHHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPA
                     ALRIAHRAHPQGLVLVTDAIPALGLGNGRHTLGQQEVEVDGLTAYVAGTKTLSGSIAP
                     MDVCVRHFLQATGCSMESALEAASLHPAQLLGLEKSKGTLDFGADADFVVLDDSLHVQ
                     ATYISGELVWQADAARQ"
     exon            172..308
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            309..448
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            449..503
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            504..716
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            717..805
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            806..950
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1058
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1127
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1229
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..3172
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1465..1470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="hexamer: GATAAA"
     polyA_site      1486
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="major polyA site"
     regulatory      3146..3151
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="hexamer: AATACA"
     regulatory      3153..3158
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="hexamer: AACAAA"
     polyA_site      3163
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
     polyA_site      3172
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
ORIGIN      
        1 gtctcagctc tcggctgggg ttcgtcactg ggcgcgggat ttggccgccg cggggctccg
       61 gagccgctcg ctcccgacac ggctcacgat gcgcggcgag cagggcgcgg cgggggcccg
      121 cgtgctccag ttcactaact gccggatcct gcgcggaggg aaactgctca gggaggatct
      181 gtgggtgcgc ggaggccgca tcttggaccc agagaagctg ttctttgagg agcggcgcgt
      241 ggccgacgag cggcgggact gcgggggccg catcttggct cccggattca tcgacgtgca
      301 gatcaacggt ggatttggtg ttgacttctc tcaagccacg gaggacgtgg gttcgggggt
      361 tgccctcgtg gcccggagga tcctgtcgca cggcgtcacc tccttctgcc ccaccctggt
      421 cacttcccca ccggaggttt atcacaaggt tgttcctcag atccctgtga agagtggtgg
      481 tccccatggg gcaggggtcc tcgggctgca cctggagggc cccttcatca gccgggagaa
      541 gcggggcgcg caccccgagg cccacctccg ctccttcgag gccgatgcct tccaggactt
      601 gctggccacc tacgggcccc tggacaatgt ccgcatcgtg acgctggccc cagagttggg
      661 ccgtagccac gaagtgatcc gggcgctgac ggcccgtggc atctgcgtgt ccctagggca
      721 ctcagtggct gacctgcggg cggcagagga tgctgtgtgg agcggagcca ccttcatcac
      781 ccacctcttc aacgccatgc tgcctttcca ccaccgcgac ccaggcatcg tggggctcct
      841 gaccagcgac cggctgcccg caggccgctg catcttctat gggatgattg cagatggcac
      901 gcacaccaac cccgccgccc tgcggatcgc ccaccgtgcc catccccagg ggctggtgct
      961 ggtcaccgat gccatccctg ccttgggcct gggcaacggc cggcacacgc tgggacagca
     1021 ggaagtggaa gtggacggtc tgacggccta cgtggcaggc accaagacgc tgagtggcag
     1081 catagcccca atggacgtct gtgtccggca cttcctgcag gccacaggct gcagcatgga
     1141 gtcggccctg gaggctgcat ccctgcaccc cgcccagttg ctggggctgg agaagagtaa
     1201 ggggaccctg gactttggtg ctgacgcaga cttcgtggtg ctcgacgact cccttcacgt
     1261 ccaggccacc tacatctcgg gtgagctggt gtggcaggcg gacgcagcta ggcagtgaca
     1321 aggacctcgg ctgagaggac acctggccgc agcgggatgc catcagggcc gggtggttgg
     1381 ggagctggtc tccagggagt gagtcgggag ccctgctgga ttgatgccca gggcctgtgc
     1441 ggccgccctg gaggcggtgg ctgggataaa cgtgcaccca gcaggactcg ccttggctcc
     1501 gggttttgct tgtgctcaca tgtggcacca tccttggttg ccctcctgga gaaggcattc
     1561 acggcctggg gtgggatggc tgggctgtag tttagcctgg gccttgggcc ccagtggggg
     1621 acagggcctg tctgcatgaa gtggaccgga gacctgcaga ccccaggaaa gtgtcactat
     1681 gggagggagg ggcaggcagt cagtggctgg tgccatgggg tgaagccacc atgggctggg
     1741 ggtgaagagc cggcaggaag gggaccagtc acagggagtg tggacagtca ggggtttgct
     1801 ttctgctcct gagttggggt gtgcagcgtg gagcccacag cctggttctg ggccagggca
     1861 cagtgccagg ggctccgctc tgacctccag gagggagact gggcccggga cccctgtttt
     1921 ctgctccctg gactgcctag ccctgagtgc cacggatgac cagcgttctg ttttctcttc
     1981 tcaataaccc tatctcttca cacatcccca ggcccagtgc ttgccggctg tggtgaccct
     2041 gcctggtgct ggagggcagt atgggaggca ccagtgtgcc ctgctcaccc cattagtgtc
     2101 atcctgccat cttctgtgtc cccttggccc tggcacacac ccatgtggca aacacgggcc
     2161 gtgaggctcc ctgaacagct tcgaggcggg tgggcttctg gagccctctt ggctctgagg
     2221 acagccacag tggggtcaga cgtcagggat tggtgcagcc ccacgtcagg ggtgattgtc
     2281 ttgactttct ctccatttga gttctggggt gggtggctcc cttccccctt gcttacaggt
     2341 gctgtcctgg gcacaggagg tacgcgcctg gctctgccac tgttctcttc cctctgctgc
     2401 aaagcccagt taaggaaatg tctccaggtc caaagagata ggatggtctg ggccccacct
     2461 gttggaaggg aacagccagg gaagaaccac ctgcctgggc agggcctcgc ctgagggagg
     2521 gcctggggca gggcacaagg ggttgatctc agcccacaag ccccaggggc agcccaggaa
     2581 agcaggcgac ggatgtggat cctgacctcc tgagaggtgt gaggtgcagg gatacccacc
     2641 tctgccttga cggccgcgca ccccttagga agtggctgtc cagcgcctgc ctgtgctggg
     2701 cctgggagag gagctgtctt gccagggctc ccaggcaggg agaggcaggt gaggttctca
     2761 gccgatgtgt tagaggttga gcatcgcctg tgcccagctt gctggctgtc agtgcttgat
     2821 gtgcccatcc tcagctaaaa cccagagctg gcatgttggt catccccacc tcagacggga
     2881 cgcccagtcc agagctggtg agccctgggc cagcctttgg gcctggcctg ccccattcac
     2941 cggccagcgc cccacctccc tggctggagg gtcggggagg ggctggcaga gatggttggt
     3001 ccacagggct agccctgggt ggtgggagag gggcccaggg tcagggtgag agagagctgg
     3061 gccagggagc tgctgcagga tgattttgag gtgtggggga agcactcttg gttggttttg
     3121 gtttgctttt taaaaattgt ggtaaaatac ataacaaaag taactatcgt aa
//
