LOCUS       NM_018491               1905 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens Zn regulated GTPase metalloprotein activator 1A
            (ZNG1A), transcript variant 1, mRNA.
ACCESSION   NM_018491 NM_020667
VERSION     NM_018491.5
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 1905)
  AUTHORS   Weiss,A., Murdoch,C.C., Edmonds,K.A., Jordan,M.R., Monteith,A.J.,
            Perera,Y.R., Rodriguez Nassif,A.M., Petoletti,A.M., Beavers,W.N.,
            Munneke,M.J., Drury,S.L., Krystofiak,E.S., Thalluri,K., Wu,H.,
            Kruse,A.R.S., DiMarchi,R.D., Caprioli,R.M., Spraggins,J.M.,
            Chazin,W.J., Giedroc,D.P. and Skaar,E.P.
  TITLE     Zn-regulated GTPase metalloprotein activator 1 modulates vertebrate
            zinc homeostasis
  JOURNAL   Cell 185 (12), 2148-2163 (2022)
   PUBMED   35584702
REFERENCE   2  (bases 1 to 1905)
  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   3  (bases 1 to 1905)
  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   4  (bases 1 to 1905)
  AUTHORS   Kanda,S., Ohmuraya,M., Akagawa,H., Horita,S., Yoshida,Y.,
            Kaneko,N., Sugawara,N., Ishizuka,K., Miura,K., Harita,Y.,
            Yamamoto,T., Oka,A., Araki,K., Furukawa,T. and Hattori,M.
  TITLE     Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1
            Gene Is associated with Congenital Anomalies of the Kidney and
            Urinary Tract
  JOURNAL   J Am Soc Nephrol 31 (1), 139-147 (2020)
   PUBMED   31862704
  REMARK    GeneRIF: The identification of a deletion in CBWD1 gene in two
            siblings with CAKUT implies a role for CBWD1 in the etiology of
            some cases of CAKUT
REFERENCE   5  (bases 1 to 1905)
  AUTHORS   Wong,A., Vallender,E.J., Heretis,K., Ilkin,Y., Lahn,B.T.,
            Martin,C.L. and Ledbetter,D.H.
  TITLE     Diverse fates of paralogs following segmental duplication of
            telomeric genes
  JOURNAL   Genomics 84 (2), 239-247 (2004)
   PUBMED   15233989
REFERENCE   6  (bases 1 to 1905)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   7  (bases 1 to 1905)
  AUTHORS   Fan,Y., Newman,T., Linardopoulou,E. and Trask,B.J.
  TITLE     Gene content and function of the ancestral chromosome fusion site
            in human chromosome 2q13-2q14.1 and paralogous regions
  JOURNAL   Genome Res 12 (11), 1663-1672 (2002)
   PUBMED   12421752
REFERENCE   8  (bases 1 to 1905)
  AUTHORS   Shi,J., Cai,W., Chen,X., Ying,K., Zhang,K. and Xie,Y.
  TITLE     Identification of dopamine responsive mRNAs in glial cells by
            suppression subtractive hybridization
  JOURNAL   Brain Res 910 (1-2), 29-37 (2001)
   PUBMED   11489251
REFERENCE   9  (bases 1 to 1905)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
REFERENCE   10 (bases 1 to 1905)
  AUTHORS   Page,N., Butlin,D., Manyonda,I. and Lowry,P.
  TITLE     The development of a genetic profile of placental gene expression
            during the first trimester of pregnancy: a potential tool for
            identifying novel secreted markers
  JOURNAL   Fetal Diagn Ther 15 (4), 237-245 (2000)
   PUBMED   10867487
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL356244.13 and AL449043.16.
            
            On Feb 12, 2020 this sequence version replaced NM_018491.4.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY343911.1, AF257330.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356521.9/ ENSP00000348915.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-241               AL356244.13        50917-51157         c
            242-328             AL356244.13        47799-47885         c
            329-425             AL356244.13        45371-45467         c
            426-517             AL356244.13        44182-44273         c
            518-577             AL356244.13        36079-36138         c
            578-615             AL356244.13        34533-34570         c
            616-662             AL356244.13        28582-28628         c
            663-749             AL356244.13        26810-26896         c
            750-794             AL356244.13        24135-24179         c
            795-851             AL356244.13        18203-18259         c
            852-903             AL356244.13        7080-7131           c
            904-972             AL449043.16        91393-91461         c
            973-1038            AL449043.16        91224-91289         c
            1039-1168           AL449043.16        89968-90097         c
            1169-1905           AL449043.16        88844-89580         c
FEATURES             Location/Qualifiers
     source          1..1905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.3"
     gene            1..1905
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /note="Zn regulated GTPase metalloprotein activator 1A"
                     /db_xref="GeneID:55871"
                     /db_xref="HGNC:HGNC:17134"
                     /db_xref="MIM:611078"
     exon            1..241
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..1275
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     COBW-like protein; COBW domain-containing protein 1;
                     NPC-A-6 COBW domain-containing protein 1; cobalamin
                     synthetase W domain-containing protein 1; zinc-regulated
                     GTPase metalloprotein activator 1A; COBW domain containing
                     1; cobalamin synthase W domain-containing protein 1"
                     /codon_start=1
                     /product="zinc-regulated GTPase metalloprotein activator
                     1A isoform 1"
                     /protein_id="NP_060961.3"
                     /db_xref="CCDS:CCDS6438.1"
                     /db_xref="GeneID:55871"
                     /db_xref="HGNC:HGNC:17134"
                     /db_xref="MIM:611078"
                     /translation="MLPAVGSADEEEDPAEEDCPELVPIETTQSEEEEKSGLGAKIPV
                     TIITGYLGAGKTTLLNYILTEQHSKRVAVILNEFGEGSALEKSLAVSQGGELYEEWLE
                     LRNGCLCCSVKDSGLRAIENLMQKKGKFDYILLETTGLADPGAVASMFWVDAELGSDI
                     YLDGIITIVDSKYGLKHLTEEKPDGLINEATRQVALADAILINKTDLVPEEDVKKLRT
                     TIRSINGLGQILETQRSRVDLSNVLDLHAFDSLSGISLQKKLQHVPGTQPHLDQSIVT
                     ITFEVPGNAKEEHLNMFIQNLLWEKNVRNKDNHCMEVIRLKGLVSIKDKSQQVIVQGV
                     HELYDLEETPVSWKDDTERTNRLVLLGRNLDKDILKQLFIATVTETEKQWTTRFQEDQ
                     VCT"
     exon            242..328
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            329..425
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            426..517
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            518..577
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            578..615
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            616..662
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            663..749
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            750..794
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            795..851
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            852..903
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            904..972
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1038
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1168
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     exon            1169..1905
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1299
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
     polyA_site      1905
                     /gene="ZNG1A"
                     /gene_synonym="CBWD1; COBP"
                     /note="major polyA site"
ORIGIN      
        1 gggagtggcg tgctgggcgt gcgcggctgc ggtacggcgt gttggtccca gcggttcagc
       61 tgaggtaggg acgtgctgta ggccggaatg ttaccggctg ttggatctgc ggatgaggag
      121 gaggatcctg cggaggagga ttgtcctgaa ttggttccca ttgagacgac gcaaagcgag
      181 gaggaggaaa agtctggcct cggcgccaag atcccagtca caattatcac cgggtattta
      241 ggtgctggga agacaacact tctgaactat attttgacag agcaacatag taaaagagta
      301 gcggtcattt taaatgaatt tggggaagga agtgcgctgg agaaatcctt agctgtcagc
      361 caaggtggag agctctatga agagtggctg gaacttagaa acggttgcct ctgctgttca
      421 gtgaaggaca gtggccttag agctattgag aatttgatgc aaaagaaggg gaaatttgat
      481 tacatactgt tagagaccac tggattagca gaccctggtg cagtggcttc tatgttttgg
      541 gttgatgctg aattagggag tgatatttat cttgatggta tcataactat tgtggattca
      601 aaatatggat taaaacattt aacagaagag aaacctgatg gccttatcaa tgaagctact
      661 agacaagttg ctttggcaga tgccattctc attaataaaa cagacctggt tccagaagaa
      721 gatgtaaaga aattaagaac gacaattaga tccataaatg gactaggaca aatcttagaa
      781 acacaaagat caagagttga tctctctaat gtattagatc ttcatgcctt tgatagtctc
      841 tctggaataa gtttgcagaa aaaacttcag catgtgccag gaacacaacc tcaccttgat
      901 cagagtattg ttacaatcac atttgaagta ccaggaaatg caaaggaaga acatcttaat
      961 atgtttattc agaatctcct gtgggaaaag aatgtgagaa acaaggacaa tcactgcatg
     1021 gaggtcataa ggctgaaggg attggtgtca atcaaagaca aatcacaaca agtgattgtc
     1081 cagggtgtcc atgagctcta tgatctggag gagactccag tgagctggaa ggatgacact
     1141 gagagaacaa atcgattggt cctccttggc agaaatttag ataaggatat ccttaaacag
     1201 ctgtttatag ctactgtgac agaaacagaa aagcagtgga caacacgttt ccaagaagat
     1261 caagtttgta cataacacta gaggcatttc ttatcaaaag gattggataa taaaaataag
     1321 tttctactgg gtatatttca agcatttatt tattacttta gttacgaatt ccaatatact
     1381 ttaaaatggt atttgtttta cagcatacat aaaatgtagc aaatcagtac tgtaaaacat
     1441 ttaacattca tacagttata tataatatcc ttttttttaa agaatggtat ttcacaaaaa
     1501 tatcttttga aattggcttt ggagtttaca tatactgaac atgaaagttt ataataatga
     1561 tgatacaact ttcaacattg tcattttttc ttagaacttc agctgattgc agagatataa
     1621 tgattacatt gttattaaat ttttttaaca caagtaagtg tcaccatttt atgacatgaa
     1681 ataaaaggtt atgactgtta ttgatgttga tgttgacgac ctgatcacct ggctgaagga
     1741 gtgtttgtca ggtttctcca ttgtaaagtt actcttttcc cccatttcat actgtgctct
     1801 ttggaaggaa atcactatgc acagcccaca ctaaaggaat ggggagttgt agtgtacttt
     1861 cttgggagtg gtctacatga ttaattgaaa ttcttctgca aagga
//
