LOCUS       NM_001410943            3103 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens amidohydrolase domain containing 2 (AMDHD2),
            transcript variant 4, mRNA.
ACCESSION   NM_001410943 XM_017023264
VERSION     NM_001410943.1
KEYWORDS    RefSeq.
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 3103)
  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 3103)
  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 3103)
  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 3103)
  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 3103)
  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 3103)
  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 3103)
  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.
            
            On Aug 18, 2022 this sequence version replaced XM_017023264.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038196.1022802.1,
                                           SRR11853559.11866.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-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
            1059-1160           AC093525.3         64145-64246         c
            1161-3103           AC093525.3         61823-63765         c
FEATURES             Location/Qualifiers
     source          1..3103
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3103
                     /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..1249
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /EC_number="3.5.1.25"
                     /note="isoform 4 is encoded by transcript variant 4;
                     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 4"
                     /protein_id="NP_001397872.1"
                     /db_xref="CCDS:CCDS92088.1"
                     /db_xref="GeneID:51005"
                     /db_xref="HGNC:HGNC:24262"
                     /db_xref="MIM:620864"
                     /translation="MRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKL
                     FFEERRVADERRDCGGRILAPGFIDVQINGGFGVDFSQATEDVGSGVALVARRILSHG
                     VTSFCPTLVTSPPEVYHKVVPQIPVKSGGPHGAGVLGLHLEGPFISREKRGAHPEAHL
                     RSFEADAFQDLLATYGPLDNVRIVTLAPELGRSHEVIRALTARGICVSLGHSVADLRA
                     AEDAVWSGATFITHLFNAMLPFHHRDPGIVGLLTSDRLPAGRCIFYGMIADGTHTNPA
                     ALRIAHRAHPQGLVLVTDAIPALGLGNGRHTLGQQEVEVDGLTAYVAGCSMESALEAA
                     SLHPAQLLGLEKSKGTLDFGADADFVVLDDSLHVQATYISGELVWQADAARQ"
     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..1160
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..3103
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1396..1401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="hexamer: GATAAA"
     polyA_site      1417
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="major polyA site"
     regulatory      3077..3082
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="hexamer: AATACA"
     regulatory      3084..3089
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
                     /note="hexamer: AACAAA"
     polyA_site      3094
                     /gene="AMDHD2"
                     /gene_synonym="CGI-14"
     polyA_site      3103
                     /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 tgcagcatgg agtcggccct
     1081 ggaggctgca tccctgcacc ccgcccagtt gctggggctg gagaagagta aggggaccct
     1141 ggactttggt gctgacgcag acttcgtggt gctcgacgac tcccttcacg tccaggccac
     1201 ctacatctcg ggtgagctgg tgtggcaggc ggacgcagct aggcagtgac aaggacctcg
     1261 gctgagagga cacctggccg cagcgggatg ccatcagggc cgggtggttg gggagctggt
     1321 ctccagggag tgagtcggga gccctgctgg attgatgccc agggcctgtg cggccgccct
     1381 ggaggcggtg gctgggataa acgtgcaccc agcaggactc gccttggctc cgggttttgc
     1441 ttgtgctcac atgtggcacc atccttggtt gccctcctgg agaaggcatt cacggcctgg
     1501 ggtgggatgg ctgggctgta gtttagcctg ggccttgggc cccagtgggg gacagggcct
     1561 gtctgcatga agtggaccgg agacctgcag accccaggaa agtgtcacta tgggagggag
     1621 gggcaggcag tcagtggctg gtgccatggg gtgaagccac catgggctgg gggtgaagag
     1681 ccggcaggaa ggggaccagt cacagggagt gtggacagtc aggggtttgc tttctgctcc
     1741 tgagttgggg tgtgcagcgt ggagcccaca gcctggttct gggccagggc acagtgccag
     1801 gggctccgct ctgacctcca ggagggagac tgggcccggg acccctgttt tctgctccct
     1861 ggactgccta gccctgagtg ccacggatga ccagcgttct gttttctctt ctcaataacc
     1921 ctatctcttc acacatcccc aggcccagtg cttgccggct gtggtgaccc tgcctggtgc
     1981 tggagggcag tatgggaggc accagtgtgc cctgctcacc ccattagtgt catcctgcca
     2041 tcttctgtgt ccccttggcc ctggcacaca cccatgtggc aaacacgggc cgtgaggctc
     2101 cctgaacagc ttcgaggcgg gtgggcttct ggagccctct tggctctgag gacagccaca
     2161 gtggggtcag acgtcaggga ttggtgcagc cccacgtcag gggtgattgt cttgactttc
     2221 tctccatttg agttctgggg tgggtggctc ccttccccct tgcttacagg tgctgtcctg
     2281 ggcacaggag gtacgcgcct ggctctgcca ctgttctctt ccctctgctg caaagcccag
     2341 ttaaggaaat gtctccaggt ccaaagagat aggatggtct gggccccacc tgttggaagg
     2401 gaacagccag ggaagaacca cctgcctggg cagggcctcg cctgagggag ggcctggggc
     2461 agggcacaag gggttgatct cagcccacaa gccccagggg cagcccagga aagcaggcga
     2521 cggatgtgga tcctgacctc ctgagaggtg tgaggtgcag ggatacccac ctctgccttg
     2581 acggccgcgc accccttagg aagtggctgt ccagcgcctg cctgtgctgg gcctgggaga
     2641 ggagctgtct tgccagggct cccaggcagg gagaggcagg tgaggttctc agccgatgtg
     2701 ttagaggttg agcatcgcct gtgcccagct tgctggctgt cagtgcttga tgtgcccatc
     2761 ctcagctaaa acccagagct ggcatgttgg tcatccccac ctcagacggg acgcccagtc
     2821 cagagctggt gagccctggg ccagcctttg ggcctggcct gccccattca ccggccagcg
     2881 ccccacctcc ctggctggag ggtcggggag gggctggcag agatggttgg tccacagggc
     2941 tagccctggg tggtgggaga ggggcccagg gtcagggtga gagagagctg ggccagggag
     3001 ctgctgcagg atgattttga ggtgtggggg aagcactctt ggttggtttt ggtttgcttt
     3061 ttaaaaattg tggtaaaata cataacaaaa gtaactatcg taa
//
