LOCUS       NM_018916               4806 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3),
            transcript variant 1, mRNA.
ACCESSION   NM_018916
VERSION     NM_018916.4
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 4806)
  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 4806)
  AUTHORS   Kim,S., Wyckoff,J., Morris,A.T., Succop,A., Avery,A., Duncan,G.E.
            and Jazwinski,S.M.
  TITLE     DNA methylation associated with healthy aging of elderly twins
  JOURNAL   Geroscience 40 (5-6), 469-484 (2018)
   PUBMED   30136078
  REMARK    GeneRIF: Results indicate that DNA methylation at CpG sites in the
            promoter region of PCDHGA3 is associated with biological age.
REFERENCE   3  (bases 1 to 4806)
  AUTHORS   Zhang,X., Takata,K., Cui,W., Miyata-Takata,T., Sato,Y.,
            Noujima-Harada,M. and Yoshino,T.
  TITLE     Protocadherin gamma A3 is expressed in follicular lymphoma
            irrespective of BCL2 status and is associated with tumor cell
            growth
  JOURNAL   Mol Med Rep 14 (5), 4622-4628 (2016)
   PUBMED   27748813
  REMARK    GeneRIF: the results of the present study indicated that PCDHGA3
            was expressed in follicular lymphoma(FL) irrespective of BCL2
            status and grading and was associated with cell proliferation.
            Further studies involving molecular genetic analyses are required
            to elucidate the mechanisms underlying the activity of PCDHGA3 in
            FL.
REFERENCE   4  (bases 1 to 4806)
  AUTHORS   Ortega,A., Gil-Cayuela,C., Tarazon,E., Garcia-Manzanares,M.,
            Montero,J.A., Cinca,J., Portoles,M., Rivera,M. and Rosello-Lleti,E.
  TITLE     New Cell Adhesion Molecules in Human Ischemic Cardiomyopathy.
            PCDHGA3 Implications in Decreased Stroke Volume and Ventricular
            Dysfunction
  JOURNAL   PLoS One 11 (7), e0160168 (2016)
   PUBMED   27472518
  REMARK    GeneRIF: altered PCDHGA3 gene expression was strongly associated
            with reduced stroke volume and ventricular dysfunction in ICM,
            suggesting a relevant role in hemodynamic perturbations and cardiac
            performance for this unexplored protocadherin
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4806)
  AUTHORS   Shonubi,A., Roman,C. and Phillips,G.R.
  TITLE     The clustered protocadherin endolysosomal trafficking motif
            mediates cytoplasmic association
  JOURNAL   BMC Cell Biol 16, 28 (2015)
   PUBMED   26608278
  REMARK    GeneRIF: Deletions within this VCD region that disrupt the
            association altered trafficking of Pcdh-gammaA3 in the
            endolysosomal system.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4806)
  AUTHORS   Wu,Q., Zhang,T., Cheng,J.F., Kim,Y., Grimwood,J., Schmutz,J.,
            Dickson,M., Noonan,J.P., Zhang,M.Q., Myers,R.M. and Maniatis,T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   7  (bases 1 to 4806)
  AUTHORS   Nollet,F., Kools,P. and van Roy,F.
  TITLE     Phylogenetic analysis of the cadherin superfamily allows
            identification of six major subfamilies besides several solitary
            members
  JOURNAL   J Mol Biol 299 (3), 551-572 (2000)
   PUBMED   10835267
  REMARK    Review article
REFERENCE   8  (bases 1 to 4806)
  AUTHORS   Yagi,T. and Takeichi,M.
  TITLE     Cadherin superfamily genes: functions, genomic organization, and
            neurologic diversity
  JOURNAL   Genes Dev 14 (10), 1169-1180 (2000)
   PUBMED   10817752
  REMARK    Review article
REFERENCE   9  (bases 1 to 4806)
  AUTHORS   Wu,Q. and Maniatis,T.
  TITLE     Large exons encoding multiple ectodomains are a characteristic
            feature of protocadherin genes
  JOURNAL   Proc Natl Acad Sci U S A 97 (7), 3124-3129 (2000)
   PUBMED   10716726
REFERENCE   10 (bases 1 to 4806)
  AUTHORS   Wu,Q. and Maniatis,T.
  TITLE     A striking organization of a large family of human neural
            cadherin-like cell adhesion genes
  JOURNAL   Cell 97 (6), 779-790 (1999)
   PUBMED   10380929
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005618.1 and AC008781.7.
            
            On Jun 2, 2019 this sequence version replaced NM_018916.3.
            
            Summary: This gene is a member of the protocadherin gamma gene
            cluster, one of three related clusters tandemly linked on
            chromosome five. These gene clusters have an immunoglobulin-like
            organization, suggesting that a novel mechanism may be involved in
            their regulation and expression. The gamma gene cluster includes 22
            genes divided into 3 subfamilies. Subfamily A contains 12 genes,
            subfamily B contains 7 genes and 2 pseudogenes, and the more
            distantly related subfamily C contains 3 genes. The tandem array of
            22 large, variable region exons are followed by a constant region,
            containing 3 exons shared by all genes in the cluster. Each
            variable region exon encodes the extracellular region, which
            includes 6 cadherin ectodomains and a transmembrane region. The
            constant region exons encode the common cytoplasmic region. These
            neural cadherin-like cell adhesion proteins most likely play a
            critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            described for the gamma cluster genes. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) includes the constant region
            exons and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.94974.1, AB208927.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000253812.8/ ENSP00000253812.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2629              AC005618.1         55341-57969
            2630-2688           AC008781.7         156232-156290       c
            2689-2777           AC008781.7         145616-145704       c
            2778-4806           AC008781.7         138122-140150       c
FEATURES             Location/Qualifiers
     source          1..4806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..4806
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /note="protocadherin gamma subfamily A, 3"
                     /db_xref="GeneID:56112"
                     /db_xref="HGNC:HGNC:8701"
                     /db_xref="MIM:606290"
     exon            1..2629
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /inference="alignment:Splign:2.1.0"
     CDS             206..3004
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; protocadherin gamma-A3"
                     /codon_start=1
                     /product="protocadherin gamma-A3 isoform 1 precursor"
                     /protein_id="NP_061739.2"
                     /db_xref="CCDS:CCDS47290.1"
                     /db_xref="GeneID:56112"
                     /db_xref="HGNC:HGNC:8701"
                     /db_xref="MIM:606290"
                     /translation="MTNCLSFRNGRGLALLCALLGTLCETGSGQIRYSVSEELDKGSF
                     VGNIANDLGLEPRELAERGVRIVSRGRTQLFSLNPQSGSLVTAERIDREELCAQIPLC
                     LVKINILVEDKLKIFEVEIEIKDINDNAPNFPTEELEIKIGELTVPGTRFPIKTAFDP
                     DVGINSLQNYKLSPNDYFSLAVNSVSEGAKYPELVLERALDREKKEIHQLVLVASDGG
                     DPVHSGNLHIQVIVLDANDNPPMFTQPEYRVSVWENVPVGTRLLTVNATDPDEGFNAQ
                     VSYILDKMPGKIAEIFHLNSVSGEVSILKSLDYEDAMFYEIKIEAQDGPGLLSRAKIL
                     VTVLDVNDNAPEITITSLTSSVPEEGTVGREIALIDVHDRDSGQNGQVEVFVLGNLPF
                     KLEKSIDQYYRLVTATSLDREQISEYNISLRASDGGSPPLSTETHITLHVIDINDNPP
                     TFPHLSYSAYIPENNPRGASIFSVTAQDPDSNNNARITYALTEDTLQGAPLSSFVSIN
                     SNTGVLYALRSFDYEQFRDLKLLVTASDSGNPPLSSNVSLNLFVLDQNDNAPEILYPA
                     LPTDGSTGVELAPRSAEPGYLVTKVVAVDRDSGQNAWLSYRLLKASEPGLFSVGLHTG
                     EVRTARALLDRDALKQSLVVAVQDHGQPPLSATVTLTVAVADRIPDILADLGSLEPSA
                     KPNDSDLTLYLVVAVAAVSCVFLAFVIVLLALRLRRWHKSRLLQASGGGLASTPGSHF
                     VGADGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKSEPLLITQDLL
                     EMKGDSNLLQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASA
                     SEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGK
                     APAGGNGNKKKSGKKEKK"
     exon            2630..2688
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /inference="alignment:Splign:2.1.0"
     exon            2689..2777
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /inference="alignment:Splign:2.1.0"
     exon            2778..4806
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4785..4790
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /note="hexamer: AATAAA"
     polyA_site      4806
                     /gene="PCDHGA3"
                     /gene_synonym="PCDH-GAMMA-A3"
                     /note="major polyA site"
ORIGIN      
        1 accatttcct tgctcctaaa atgcaaagaa ccagcaaatc agactcagaa gatccggggc
       61 ggctgccaac ctcacctctt agtcaaccag ctgtttgacc tgtgaattag gcccgtaaaa
      121 gacttcgttt cttgagaaaa taagattgga gtccgtcgta ggaaactgga accgaattca
      181 gagaaagcga ttcaccgaaa aggaaatgac caattgcctg agtttccgaa atggcagagg
      241 actggccctg ctgtgcgcgc tcctggggac gctgtgcgaa acaggatccg gtcagatccg
      301 ctactcggtg tctgaggagc tagataaagg ttccttcgtg ggcaacatcg ctaacgacct
      361 ggggctagag ccccgggagc tggcggagcg cggagtccgc atcgtctcca gaggtaggac
      421 gcagcttttc tctctgaatc cgcaaagcgg cagcttggtc accgcggaga ggatagaccg
      481 ggaggagctc tgcgctcaga tcccgctgtg tctggtaaaa attaacattc tggttgagga
      541 taaattgaaa atttttgaag tagaaataga aattaaagat attaatgata atgctcctaa
      601 tttcccaaca gaggaattgg aaataaaaat tggtgaacta acggttcctg gaacccgatt
      661 tccaattaaa actgcttttg acccagatgt aggcattaac tccctgcaga actacaagct
      721 tagccccaat gactacttct ctctggctgt gaatagcgtc tctgaggggg ccaagtatcc
      781 agagctggtg ctggagcggg ccctggaccg tgagaaaaaa gaaattcacc agcttgtcct
      841 ggttgcctct gatggtggcg accctgtcca ctctggcaac ttgcacatcc aagtgatagt
      901 cctggatgca aatgacaacc caccaatgtt tactcagcct gagtaccgtg tgagtgtttg
      961 ggagaacgtg cctgtgggta cccggctgct cacggtgaat gccactgacc ctgacgaggg
     1021 attcaatgct caagtgtctt atattctaga taaaatgcct gggaaaatcg ctgagatttt
     1081 ccatcttaac tcagtgagtg gagaagtatc aatattaaaa agtctagatt atgaggatgc
     1141 catgttctat gaaattaaaa ttgaagcaca ggatggacca ggtcttcttt caagagccaa
     1201 gattctagtc acggttctgg atgtgaatga caatgctcca gaaattacaa tcacgtctct
     1261 cacaagctca gtcccagaag agggcaccgt tggaagagaa attgctctta tcgacgtgca
     1321 tgaccgagat tctgggcaga atgggcaggt tgaagttttt gtcctgggaa atctgccatt
     1381 taagttagaa aaatcaatag atcaatatta ccgcttagtg acggccacat ccctggaccg
     1441 cgaacaaata tcagaatata acattagtct gagagcctca gatgggggaa gcccgccact
     1501 gtccacagaa actcacatca ccctgcatgt gattgacatc aatgacaacc cacccacctt
     1561 ccctcattta tcctactccg cctacattcc agaaaacaac cccagaggag cctccatctt
     1621 ctcagtgaca gcccaggacc cagatagcaa caacaacgcc cgcatcactt atgcattgac
     1681 cgaggacact ctccaggggg cgcccctgtc ctccttcgtc tctatcaact ccaacactgg
     1741 cgtcctatac gcgctgagat ccttcgacta cgagcaattt agagacttaa agctactggt
     1801 gacagccagc gacagcggga accctccact cagcagcaac gtgtcgctga acctgttcgt
     1861 gctggaccag aacgacaacg cgcccgagat cctgtacccc gccctcccca cagacggttc
     1921 cactggcgtg gagctggcgc ctcgctccgc agagcccggc tacctggtga ccaaggtggt
     1981 ggcggtggac agagactcgg gccagaacgc ctggctgtcc taccgcctgc tcaaggccag
     2041 cgagccggga ctcttctcgg tgggtctgca cacgggcgag gtgcgcacgg cgcgagccct
     2101 gctggacaga gacgcgctca agcagagcct cgtggtggcc gtccaggacc acggccagcc
     2161 ccctctctcc gccactgtca cgctcaccgt ggccgtggcc gacaggatcc ccgacatcct
     2221 ggccgacctg ggcagcctcg agccctccgc caaacccaac gattcggacc tcactctgta
     2281 cctggtggtg gcggtggccg cggtctcctg cgtcttcctg gccttcgtca tcgtgctgct
     2341 ggcgctcagg ctgcggcgct ggcacaagtc acgcctgctg caggcttcgg gaggcggctt
     2401 ggcgagtacg cccggctcgc actttgtggg cgcggacggg gttcgggctt tcctgcagac
     2461 ctattcccac gaggtctccc tcactgcgga ctcgcggaag agccacctga ttttccccca
     2521 gcccaactat gcggacacgc tcatcagcca ggagagctgt gagaaaagcg agcctcttct
     2581 gataactcag gatttacttg aaatgaaagg agattccaac ctacttcagc aagccccgcc
     2641 caacacggac tggcgtttct ctcaggccca gagacccggc accagcggct cccaaaatgg
     2701 cgatgacacc ggcacctggc ccaacaacca gtttgacaca gagatgctgc aagccatgat
     2761 cttggcgtcc gccagtgaag ctgctgatgg gagctccacc ctgggagggg gtgccggcac
     2821 catgggattg agcgcccgct acggacccca gttcaccctg cagcacgtgc ccgactaccg
     2881 ccagaatgtc tacatcccag gcagcaatgc cacactgacc aacgcagctg gcaagcggga
     2941 tggcaaggcc ccagcaggtg gcaatggcaa caagaagaag tcgggcaaga aggagaagaa
     3001 gtaacatgga ggccaggcca agagccacag ggcggcctct ccccaaccag cccagcttct
     3061 ccttacctgc acccaggcct cagagtttca gggctaaccc ccagaatact ggtaggggcc
     3121 aaggccatgc tccccttggg aaacagaaac aagtgcccag tcagcaccta ccccttcccc
     3181 cccagggggt tgaatatgca aaagcagttc cgctgggaac ccccatccaa tcaactgctg
     3241 tacccatggg ggtagtgggg ttactgtaga caccaagaac catttgccac accccgttta
     3301 gttacagctg aactcctcca tcttccaaat caatcaggcc catccatccc atgcctccct
     3361 cctccccacc ccactccaac agttcctctt tcccgagtaa ggtggttggg gtgttgaagt
     3421 accaagtaac ctacaagcct cctagttctg aaaagttgga agggcatcat gacctcttgg
     3481 cctctccttt gattctcaat cttcccccaa agcatggttt ggtgccagcc ccttcacctc
     3541 cttccagagc ccaagatcaa tgctcaagtt ttggaggaca tgatcaccat ccccatggta
     3601 ctgatgcttg ctggatttag ggagggcatt ttgctaccaa gcctcttccc aacgccctgg
     3661 ggaccagtct tctgttttgt ttttcattgt ttgacgtttc cactgcatgc cttgacttcc
     3721 cccacctcct cctcaaacaa gagactccac tgcatgttcc aagacagtat ggggtggtaa
     3781 gataaggaag ggaagtgtgt ggatgtggat ggtgggggca tggacaaagc ttgacacatc
     3841 aagttatcaa ggccttggag gaggctctgt atgtcctcag gggactgaca acatcctcca
     3901 gattccagcc ataaaccaat aactaggctg gacccttccc actacataat agggctcagc
     3961 ccaggcagcc agctttgggc tgagctaaca ggaccaatgg attaaactgg catttcagtc
     4021 caaggaagct cgaagcaggt ttaggaccag gtccccttga gaggtcagag gggcctctgt
     4081 gggtgctggg tactccagag gtgccactgg tggaagggtc agcggagccc cagcaggaag
     4141 ggtgggccag ccaggccatt cttagtccct gggttgggga ggcagggagc tagggcaggg
     4201 accaaatgaa cagaaagtct cagcccagga tggggcttct tcaacagggc ccctgccctc
     4261 ctgaagcctc agtccttcac cttgccaggt gccgtttctc ttccgtgaag gccactgccc
     4321 aggtccccag tgcgccccct agtggccata gcctggttaa agttccccag tgcctccttg
     4381 tgcatagacc ttcttctccc acccccttct gcccctgggt ccccggccat ccagcggggc
     4441 tgccagagaa ccccagacct gcccttacag tagtgtagcg ccccctccct ctttcggctg
     4501 gtgtagaata gccagtagtg tagtgcggtg tgcttttacg tgatggcggg tgggcagcgg
     4561 gcggcgggct ccgcgcagcc gtctgtcctt gatctgcccg cggcggcccg tgttgtgttt
     4621 tgtgctgtgt ccacgcgcta aggcgacccc ctcccccgta ctgacttctc ctataagcgc
     4681 ttctcttcgc atagtcacgt agctcccacc ccaccctctt cctgtgtctc acgcaagttt
     4741 tatactctaa tatttatatg gctttttttc ttcgacaaaa aaataataaa acgtttcttc
     4801 tgaaaa
//
