LOCUS       NM_002073               3170 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens G protein subunit alpha z (GNAZ), mRNA.
ACCESSION   NM_002073 XM_005261580
VERSION     NM_002073.4
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 3170)
  AUTHORS   Tian,F. and Cai,D.
  TITLE     Overexpressed GNAZ predicts poor outcome and promotes G0/G1 cell
            cycle progression in hepatocellular carcinoma
  JOURNAL   Gene 807, 145964 (2022)
   PUBMED   34530087
  REMARK    GeneRIF: Overexpressed GNAZ predicts poor outcome and promotes
            G0/G1 cell cycle progression in hepatocellular carcinoma.
            Erratum:[Gene. 2022 Feb 5;810:146062. doi:
            10.1016/j.gene.2021.146062.. PMID: 34799182]
REFERENCE   2  (bases 1 to 3170)
  AUTHORS   Dantas,A.G., Santoro,M.L., Nunes,N., de Mello,C.B., Pimenta,L.S.E.,
            Meloni,V.A., Soares,D.C.Q., Belangero,S.N., Carvalheira,G.,
            Kim,C.A. and Melaragno,M.I.
  TITLE     Downregulation of genes outside the deleted region in individuals
            with 22q11.2 deletion syndrome
  JOURNAL   Hum Genet 138 (1), 93-103 (2019)
   PUBMED   30627818
  REMARK    GeneRIF: Low GNAZ expression is associated with 22q11.2 deletion
            syndrome.
REFERENCE   3  (bases 1 to 3170)
  AUTHORS   Purcell,R.H., Toro,C., Gahl,W.A. and Hall,R.A.
  TITLE     A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2)
            increases receptor signaling activity
  JOURNAL   Hum Mutat 38 (12), 1751-1760 (2017)
   PUBMED   28891236
REFERENCE   4  (bases 1 to 3170)
  AUTHORS   Cardenas-Navia,L.I., Cruz,P., Lin,J.C., Rosenberg,S.A. and
            Samuels,Y.
  CONSRTM   NISC Comparative Sequencing Program
  TITLE     Novel somatic mutations in heterotrimeric G proteins in melanoma
  JOURNAL   Cancer Biol Ther 10 (1), 33-37 (2010)
   PUBMED   20424519
  REMARK    GeneRIF: GNAZ mutations are associated with melanoma.
REFERENCE   5  (bases 1 to 3170)
  AUTHORS   Gudbjartsson,D.F., Walters,G.B., Thorleifsson,G., Stefansson,H.,
            Halldorsson,B.V., Zusmanovich,P., Sulem,P., Thorlacius,S.,
            Gylfason,A., Steinberg,S., Helgadottir,A., Ingason,A.,
            Steinthorsdottir,V., Olafsdottir,E.J., Olafsdottir,G.H.,
            Jonsson,T., Borch-Johnsen,K., Hansen,T., Andersen,G., Jorgensen,T.,
            Pedersen,O., Aben,K.K., Witjes,J.A., Swinkels,D.W., den Heijer,M.,
            Franke,B., Verbeek,A.L., Becker,D.M., Yanek,L.R., Becker,L.C.,
            Tryggvadottir,L., Rafnar,T., Gulcher,J., Kiemeney,L.A., Kong,A.,
            Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Many sequence variants affecting diversity of adult human height
  JOURNAL   Nat Genet 40 (5), 609-615 (2008)
   PUBMED   18391951
REFERENCE   6  (bases 1 to 3170)
  AUTHORS   Wilkie,T.M., Gilbert,D.J., Olsen,A.S., Chen,X.N., Amatruda,T.T.,
            Korenberg,J.R., Trask,B.J., de Jong,P., Reed,R.R., Simon,M.I. et
            al.
  TITLE     Evolution of the mammalian G protein alpha subunit multigene family
  JOURNAL   Nat Genet 1 (2), 85-91 (1992)
   PUBMED   1302014
  REMARK    Review article
REFERENCE   7  (bases 1 to 3170)
  AUTHORS   Gagnon,A.W., Manning,D.R., Catani,L., Gewirtz,A., Poncz,M. and
            Brass,L.F.
  TITLE     Identification of Gz alpha as a pertussis toxin-insensitive G
            protein in human platelets and megakaryocytes
  JOURNAL   Blood 78 (5), 1247-1253 (1991)
   PUBMED   1908722
REFERENCE   8  (bases 1 to 3170)
  AUTHORS   Jiang,M., Pandey,S., Tran,V.T. and Fong,H.K.
  TITLE     Guanine nucleotide-binding regulatory proteins in retinal pigment
            epithelial cells
  JOURNAL   Proc Natl Acad Sci U S A 88 (9), 3907-3911 (1991)
   PUBMED   1902575
REFERENCE   9  (bases 1 to 3170)
  AUTHORS   Matsuoka,M., Itoh,H. and Kaziro,Y.
  TITLE     Characterization of the human gene for Gx alpha, a pertussis
            toxin-insensitive regulatory GTP-binding protein
  JOURNAL   J Biol Chem 265 (22), 13215-13220 (1990)
   PUBMED   2115889
REFERENCE   10 (bases 1 to 3170)
  AUTHORS   Blatt,C., Eversole-Cire,P., Cohn,V.H., Zollman,S., Fournier,R.E.,
            Mohandas,L.T., Nesbitt,M., Lugo,T., Jones,D.T., Reed,R.R. et al.
  TITLE     Chromosomal localization of genes encoding guanine
            nucleotide-binding protein subunits in mouse and human
  JOURNAL   Proc Natl Acad Sci U S A 85 (20), 7642-7646 (1988)
   PUBMED   2902634
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC037333.1, J03260.1 and
            AC000029.17.
            
            On Nov 23, 2018 this sequence version replaced NM_002073.3.
            
            Summary: The protein encoded by this gene is a member of a G
            protein subfamily that mediates signal transduction in pertussis
            toxin-insensitive systms. This encoded protein may play a role in
            maintaining the ionic balance of perilymphatic and endolymphatic
            cochlear fluids. [provided by RefSeq, Jul 2008].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026342.1, BC037333.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000615612.2/ ENSP00000478892.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-693               BC037333.1         175-867
            694-1188            J03260.1           205-699
            1189-1581           BC037333.1         1363-1755
            1582-3031           AC000029.17        103118-104567
            3032-3170           BC037333.1         3208-3346
FEATURES             Location/Qualifiers
     source          1..3170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.22-q11.23"
     gene            1..3170
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /note="G protein subunit alpha z"
                     /db_xref="GeneID:2781"
                     /db_xref="HGNC:HGNC:4395"
                     /db_xref="MIM:139160"
     exon            1..52
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /inference="alignment:Splign:2.1.0"
     exon            53..1224
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /inference="alignment:Splign:2.1.0"
     CDS             502..1569
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /note="transducin alpha; guanine nucleotide binding
                     protein (G protein), alpha z polypeptide; g(x) alpha
                     chain; heterotrimeric guanine nucleotide-binding protein
                     1H"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein G(z) subunit
                     alpha"
                     /protein_id="NP_002064.1"
                     /db_xref="CCDS:CCDS13804.1"
                     /db_xref="GeneID:2781"
                     /db_xref="HGNC:HGNC:4395"
                     /db_xref="MIM:139160"
                     /translation="MGCRQSSEEKEAARRSRRIDRHLRSESQRQRREIKLLLLGTSNS
                     GKSTIVKQMKIIHSGGFNLEACKEYKPLIIYNAIDSLTRIIRALAALRIDFHNPDRAY
                     DAVQLFALTGPAESKGEITPELLGVMRRLWADPGAQACFSRSSEYHLEDNAAYYLNDL
                     ERIAAADYIPTVEDILRSRDMTTGIVENKFTFKELTFKMVDVGGQRSERKKWIHCFEG
                     VTAIIFCVELSGYDLKLYEDNQTSRMAESLRLFDSICNNNWFINTSLILFLNKKDLLA
                     EKIRRIPLTICFPEYKGQNTYEEAAVYIQRQFEDLNRNKETKEIYSHFTCATDTSNIQ
                     FVFDAVTDVIIQNNLKYIGLC"
     exon            1225..3170
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3151..3156
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /note="hexamer: AATAAA"
     polyA_site      3170
                     /gene="GNAZ"
                     /gene_synonym="gz-alpha; HG1H"
                     /note="major polyA site"
ORIGIN      
        1 gccccgccct gcccggagca gctcggcaga tgctctgtgc tgcggcccgg aggtgaaggg
       61 ctggatgcac agtgggagcc ggaggcgggg ggctgcaggg agcacaccag cgaccggccc
      121 tccaaccctc cagccactca gcaacatcgc cacagcaacc agcaaccaga cggcagcagc
      181 cgaggcaaac acaagcggac ggcttcccac cgtcgccgag gacagggaat gactacggca
      241 aatcaggcca ctttgccaac tagggaggtg gagtgtcact agtggggagg ggcggccacc
      301 gcccgctgca cagagcgcca tgccggctgg agaagaggcg ctggggcagg ggctgcagtg
      361 tggctcggcc tcacccccct gctggcactg agtgcctcca gggcagctgg gctcttgtct
      421 gcctggtctc agtgtcccct gtggcaagag ggagaggtgc cccatcccgt gctccttgtc
      481 tgggcccgct gctgccagac catgggatgt cggcaaagct cagaggaaaa agaagcagcc
      541 cggcggtccc ggagaattga ccgccacctg cgctcagaga gccagcggca acgccgcgaa
      601 atcaagctgc tcctgctggg caccagcaac tcaggcaaga gcaccatcgt caaacagatg
      661 aagatcatcc acagcggcgg cttcaacctg gaggcctgca aggagtacaa gcccctcatc
      721 atctacaatg ccatcgactc gctgacccgc atcatccggg ccctggccgc cctcaggatc
      781 gacttccaca accccgaccg cgcctacgac gctgtgcagc tctttgcgct gacgggcccc
      841 gctgagagca agggcgagat cacacccgag ctgctgggtg tcatgcgacg gctctgggcc
      901 gacccagggg cacaggcctg cttcagccgc tccagcgagt accacctgga ggacaacgcg
      961 gcctactacc tgaacgacct ggagcgcatc gccgcagctg actatatccc cactgtcgag
     1021 gacatcctgc gctcccggga catgaccacg ggcattgtgg agaacaagtt caccttcaag
     1081 gagctcacct tcaagatggt ggacgtgggg gggcagaggt cagagcgcaa aaagtggatc
     1141 cactgcttcg agggcgtcac agccatcatc ttctgtgtgg agctcagcgg ctacgacctg
     1201 aaactctacg aggataacca gacaagtcgg atggcagaga gcttgcgcct ctttgactcc
     1261 atctgcaaca acaactggtt catcaacacc tcactcatcc tcttcctgaa caagaaggac
     1321 ctgctggcag agaagatccg ccgcatcccg ctcaccatct gctttcccga gtacaagggc
     1381 cagaacacgt acgaggaggc cgctgtctac atccagcggc agtttgaaga cctgaaccgc
     1441 aacaaggaga ccaaggagat ctactcccac ttcacctgcg ccaccgacac cagtaacatc
     1501 cagtttgtct tcgacgcggt gacagacgtc atcatacaga acaatctcaa gtacattggc
     1561 ctttgctgag gagctgggcc cggggcccgc ctgcctatgg tgaaacccac ggggtgtcat
     1621 gccccaacgc gtgctagaga ggcccaatcc aggggcagaa aacagggggc ctaaagaatg
     1681 tcccccaccc cttggcctct gcctccttgg ccccacattt ctgcaaacat aaatatttac
     1741 ggatagattg ctaggtagat agacacacac acatgcacac acacacatct ggagatggca
     1801 aaatcctcta aaatgtcgag gtctcttgaa gacttgagaa gctgtcacaa ggtcactaca
     1861 agcccaacct gccccttcac tttgccttcc tgagttggcc ccactccact tgggggtctg
     1921 cattggattg ttagggatag gcagcagggc tgaggcaagg taggccaact gcacccctgt
     1981 cgcctggagg agggccagct cgctgcccga gctctggcct agggaccttg ccgctgacca
     2041 agagggagga ccagtgcagg gtctgtgcac cttccctgct ggcctgcaca cagctgctca
     2101 gcaccacttt cattctggac ctgggacctt aggagccggg tgacagcact aaccagacct
     2161 ccagccactc acagctcttt ttaaaaaaca gcttcaaaat atgcagcaaa aaccaataca
     2221 acaaaacgag tggcacgatt tatttcaaac taggccagct gggattccag cttttcttct
     2281 actagtctga tgttttataa atcaaaacct ggttttcctt ctctgacatt ttttttttgt
     2341 tttgtttttt ggtttttttt tttttttggc caaatctcgt ggtgtttcgc agaaaaaaat
     2401 ccagaaaatt tcaaatgcag ttgagtattc ttttttaaat gcagattttc aaaacatatt
     2461 ttttttcagg tggtcttttt tgtgtctggc ttgctgagtg taaaagttgt tatctggacg
     2521 atctgtctct ctgctccaaa gaaattttgg agtgagtggc agtcctgcgc cagcctcgcg
     2581 ggacacgtgt tgtacataag cctctgcagt gtcctcttgt taatggtggg gttttctgct
     2641 ttgtttttat ttaagaaaat aaacacgaca tatttaaaga aggttctttc acctgggagc
     2701 aaatgaacaa tagctaagtg tcttggtatt taaagagtaa attatttgtg gctttgctga
     2761 gtgaaggaag gggagcaagg ggtggtgccc ctggtcccag catgccccgc gcctgagact
     2821 ggctggaaat gctctgactc ctgtgaaggc acagccagcg ttgtggcctg agggaggccc
     2881 tgctgggacc ctgatctggg ccttcctgtc ccagggccta tgggcaactg cgttgaaagg
     2941 acgttcgcca agggccgtgt gtaaatacga actgcgccat ggagaggaga ggcactgccg
     3001 gagcccttgc cagatctccc tccctctctc cgtgcagtag ctgtgtgtcc gaggtcagtg
     3061 tgcggaatca cagccaagga cgtgaagaga tgtacggggg aaagagaagc tggggattgg
     3121 atgaaagtca aaggttgtct actttaagaa aataaaatac cctgaatgga
//
