LOCUS       NM_018912               4769 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1),
            transcript variant 1, mRNA.
ACCESSION   NM_018912
VERSION     NM_018912.3
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 4769)
  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   2  (bases 1 to 4769)
  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   3  (bases 1 to 4769)
  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   4  (bases 1 to 4769)
  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   5  (bases 1 to 4769)
  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 AF152318.1.
            
            On Sep 17, 2020 this sequence version replaced NM_018912.2.
            
            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 :: AF152318.1, SRR14038192.2955972.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000517417.3/ ENSP00000431083.1
            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
            1-171               AC005618.1         42026-42196
            172-4769            AF152318.1         1-4598
FEATURES             Location/Qualifiers
     source          1..4769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..4769
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /note="protocadherin gamma subfamily A, 1"
                     /db_xref="GeneID:56114"
                     /db_xref="HGNC:HGNC:8696"
                     /db_xref="MIM:606288"
     exon            1..2592
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             172..2967
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; protocadherin gamma-A1"
                     /codon_start=1
                     /product="protocadherin gamma-A1 isoform 1 precursor"
                     /protein_id="NP_061735.1"
                     /db_xref="CCDS:CCDS54922.1"
                     /db_xref="GeneID:56114"
                     /db_xref="HGNC:HGNC:8696"
                     /db_xref="MIM:606288"
                     /translation="MKIQKKLTGCSRLMLLCLSLELLLEAGAGNIHYSVPEETDKGSF
                     VGNIAKDLGLQPQELADGGVRIVSRGRMPLFALNPRSGSLITARRIDREELCAQSMPC
                     LVSFNILVEDKMKLFPVEVEIIDINDNTPQFQLEELEFKMNEITTPGTRVSLPFGQDL
                     DVGMNSLQSYQLSSNPHFSLDVQQGADGPQHPEMVLQSPLDREEEAVHHLILTASDGG
                     EPVRSGTLRIYIQVVDANDNPPAFTQAQYHINVPENVPLGTQLLMVNATDPDEGANGE
                     VTYSFHNVDHRVAQIFRLDSYTGEISNKEPLDFEEYKMYSMEVQAQDGAGLMAKVKVL
                     IKVLDVNDNAPEVTITSVTTAVPENFPPGTIIALISVHDQDSGDNGYTTCFIPGNLPF
                     KLEKLVDNYYRLVTERTLDRELISGYNITITAIDQGTPALSTETHISLLVTDINDNSP
                     VFHQDSYSAYIPENNPRGASIFSVRAHDLDSNENAQITYSLIEDTIQGAPLSAYLSIN
                     SDTGVLYALRSFDYEQFRDMQLKVMARDSGDPPLSSNVSLSLFLLDQNDNAPEILYPA
                     LPTDGSTGVELAPLSAEPGYLVTKVVAVDRDSGQNAWLSYRLLKASEPGLFSVGLHTG
                     EVRTARALLDRDALKQSLVVAVQDHGQPPLSATVTLTVAVADRISDILADLGSLEPSA
                     KPNDSDLTLYLVVAAAAVSCVFLAFVIVLLAHRLRRWHKSRLLQASGGGLASMPGSHF
                     VGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLISQESCEKKGFLSAPQSLL
                     EDKKEPFSQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASAS
                     EAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGKA
                     PAGGNGNKKKSGKKEKK"
     exon            2593..2651
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /inference="alignment:Splign:2.1.0"
     exon            2652..2740
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /inference="alignment:Splign:2.1.0"
     exon            2741..4769
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4748..4753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /note="hexamer: AATAAA"
     polyA_site      4769
                     /gene="PCDHGA1"
                     /gene_synonym="PCDH-GAMMA-A1"
                     /note="major polyA site"
ORIGIN      
        1 gaacctccat aaccgccaga ttgaaaactg actgtccaag actgcctaaa tcctacttct
       61 ggatgactct ccagtcagaa ttctcctgaa aattgggtta atttcagctc agaaaagcag
      121 aaacgatacc cttggtactg gactggaaga aaactacgaa gtgagagagc catgaagatt
      181 cagaaaaagc tgactggctg cagcaggctg atgcttctgt gtctttctct ggagctgctg
      241 ttggaagctg gggctgggaa tattcactac tcagtgccgg aagagacaga caaaggttcc
      301 ttcgtaggca acatcgccaa ggacctaggg ctgcaacccc aggagctggc agatggcgga
      361 gtccgcatcg tctccagagg taggatgccg cttttcgctc tgaatcctag aagtggcagc
      421 ttgatcaccg cgcgcaggat agaccgggag gagctctgcg ctcagagcat gccgtgtctc
      481 gtgagtttta atatccttgt tgaggataaa atgaagcttt ttcctgttga agtagaaata
      541 attgatatta atgacaacac tccccaattc cagttagagg aactggagtt taaaatgaat
      601 gaaataacga ctccaggtac cagagtctca ttgccttttg ggcaagacct tgatgtgggt
      661 atgaactcac tccagagcta ccaactcagc tctaaccctc atttctccct ggatgtgcaa
      721 cagggagccg atgggcctca acatccagag atggtgctgc agagtccctt agacagagaa
      781 gaagaagctg tccaccacct catcctcaca gcttctgatg ggggtgaacc agtccgttca
      841 gggaccctca gaatttacat tcaggtggtg gatgcaaatg acaatcctcc agcatttact
      901 caggcacaat accatataaa tgtccccgaa aacgtgccgc tgggtactca gctgctcatg
      961 gtaaatgcca ctgaccctga tgagggagcc aatggggaag taacgtactc ctttcacaat
     1021 gtagaccaca gagtggccca aatatttcgt ttagattctt acacaggaga aatatcaaat
     1081 aaagaaccac tagatttcga agaatacaaa atgtattcaa tggaagttca agcccaggat
     1141 ggtgcggggc tcatggctaa agttaaggta ctgatcaaag ttttggatgt aaatgataat
     1201 gccccagaag tgaccatcac ctctgtcacc actgcagttc cagaaaactt tcctcctggg
     1261 accataattg ctcttatcag tgtgcatgac caggactcag gagacaatgg ctacaccaca
     1321 tgtttcattc ctggaaattt accctttaaa ttggaaaagt tagttgataa ttattaccgt
     1381 ttagtgactg aaagaacact ggacagagaa cttatctctg ggtacaacat cacaataaca
     1441 gcaatagacc aaggaactcc agctctatct actgaaactc acatttcact actagtgaca
     1501 gatatcaatg acaactcccc agtcttccat caggactcct actctgccta cattcccgaa
     1561 aacaacccca gaggagcctc catcttctct gtgagggccc acgacttgga cagcaatgag
     1621 aatgcacaaa tcacttactc cctaatagag gacactatcc agggggcacc cctatctgcc
     1681 tacctctcca tcaactccga cactggggtc ctgtatgcgc tgcgatcctt cgactatgag
     1741 cagttccggg acatgcaact gaaagtgatg gcgcgggaca gtggggatcc gcccctcagc
     1801 agcaacgtgt ctctcagcct attcctgctg gaccagaacg acaacgcgcc cgagatcctg
     1861 taccccgccc tccccacaga tggttctacc ggcgtggagc tggcgcccct ctccgcagag
     1921 cccggctacc tggtgaccaa ggtggtggcg gtggacagag actcgggcca gaacgcctgg
     1981 ctgtcctacc gcctgctcaa ggccagcgag ccgggactct tctcggtggg tctgcacacg
     2041 ggcgaggtgc gcacggcgcg agccctgctg gacagagacg cgctcaagca gagtctcgtg
     2101 gtggccgtcc aggaccacgg ccagcccccg ctctccgcca ctgtcacgct caccgtggcc
     2161 gtggccgaca ggatctccga catcctggcc gacctgggca gcctcgagcc ctccgccaaa
     2221 cccaacgatt cggacctcac tctgtacctg gtggtggcgg cggccgcggt ctcctgcgtc
     2281 ttcctggcct tcgtcatcgt gctgctggcg cacaggctgc ggcgctggca caagtcacgt
     2341 ctgctacagg cttcgggagg cggcttagcg agcatgcccg gttcgcactt tgtgggcgtg
     2401 gacggggttc gggctttcct gcagacctat tcccacgagg tctccctcac tgcggactcg
     2461 cggaagagcc acctgatttt cccccagccc aactatgcgg acacactcat cagccaggag
     2521 agctgtgaga aaaagggttt tctatcagca ccccagtctt tacttgaaga caaaaaggaa
     2581 ccattttctc agcaagcccc gcccaacacg gactggcgtt tctctcaggc ccagagaccc
     2641 ggcaccagcg gctcccaaaa tggcgatgac accggcacct ggcccaacaa ccagtttgac
     2701 acagagatgc tgcaagccat gatcttggcg tccgccagtg aagctgctga tgggagctcc
     2761 accctgggag ggggtgccgg caccatggga ttgagcgccc gctacggacc ccagttcacc
     2821 ctgcagcacg tgcccgacta ccgccagaat gtctacatcc caggcagcaa tgccacactg
     2881 accaacgcag ctggcaagcg ggatggcaag gccccagcag gtggcaatgg caacaagaag
     2941 aagtcgggca agaaggagaa gaagtaacat ggaggccagg ccaagagcca cagggcggcc
     3001 tctccccaac cagcccagct tctccttacc tgcacccagg cctcagagtt tcagggctaa
     3061 cccccagaat actggtaggg gccaaggcca tgctcccctt gggaaacaga aacaagtgcc
     3121 cagtcagcac ctaccccttc ccccccaggg ggttgaatat gcaaaagcag ttccgctggg
     3181 aacccccatc caatcaactg ctgtacccat gggggtagtg gggttactgt agacaccaag
     3241 aaccatttgc cacaccccgt ttagttacag ctgaactcct ccatcttcca aatcaatcag
     3301 gcccatccat cccatgcctc cctcctcccc accccactcc aacagttcct ctttcccgag
     3361 taaggtggtt ggggtgttga agtaccaagt aacctacaag cctcctagtt ctgaaaagtt
     3421 ggaagggcat catgacctct tggcctctcc tttgattctc aatcttcccc caaagcatgg
     3481 tttggtgcca gccccttcac ctccttccag agcccaagat caatgctcaa gttttggagg
     3541 acatgatcac catccccatg gtactgatgc ttgctggatt tagggagggc attttgctac
     3601 caagcctctt cccaacgccc tggggaccag tcttctgttt tgtttttcat tgtttgacgt
     3661 ttccactgca tgccttgact tcccccacct cctcctcaaa caagagactc cactgcatgt
     3721 tccaagacag tatggggtgg taagataagg aagggaagtg tgtggatgtg gatggtgggg
     3781 gcatggacaa agcttgacac atcaagttat caaggccttg gaggaggctc tgtatgtcct
     3841 caggggactg acaacatcct ccagattcca gccataaacc aataactagg ctggaccctt
     3901 cccactacat aatagggctc agcccaggca gccagctttg ggctgagcta acaggaccaa
     3961 tggattaaac tggcatttca gtccaaggaa gctcgaagca ggtttaggac caggtcccct
     4021 tgagaggtca gaggggcctc tgtgggtgct gggtactcca gaggtgccac tggtggaagg
     4081 gtcagcggag ccccagcagg aagggtgggc cagccaggcc attcttagtc cctgggttgg
     4141 ggaggcaggg agctagggca gggaccaaat gaacagaaag tctcagccca ggatggggct
     4201 tcttcaacag ggcccctgcc ctcctgaagc ctcagtcctt caccttgcca ggtgccgttt
     4261 ctcttccgtg aaggccactg cccaggtccc cagtgcgccc cctagtggcc atagcctggt
     4321 taaagttccc cagtgcctcc ttgtgcatag accttcttct cccaccccct tctgcccctg
     4381 ggtccccggc catccagcgg ggctgccaga gaaccccaga cctgccctta cagtagtgta
     4441 gcgccccctc cctctttcgg ctggtgtaga atagccagta gtgtagtgcg gtgtgctttt
     4501 acgtgatggc gggtgggcag cgggcggcgg gctccgcgca gccgtctgtc cttgatctgc
     4561 ccgcggcggc ccgtgttgtg ttttgtgctg tgtccacgcg ctaaggcgac cccctccccc
     4621 gtactgactt ctcctataag cgcttctctt cgcatagtca cgtagctccc accccaccct
     4681 cttcctgtgt ctcacgcaag ttttatactc taatatttat atggcttttt ttcttcgaca
     4741 aaaaaataat aaaacgtttc ttctgaaaa
//
