LOCUS       NM_018922               4748 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1),
            transcript variant 1, mRNA.
ACCESSION   NM_018922
VERSION     NM_018922.3
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 4748)
  AUTHORS   Li,L.X., Huang,J.H., Pan,L.Z., Zhang,X.L., Pan,Y.G. and Jin,L.J.
  TITLE     Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in
            Patients with Adult-Onset Dystonia
  JOURNAL   Mov Disord 37 (5), 1099-1101 (2022)
   PUBMED   35229923
  REMARK    GeneRIF: Whole-Exome Sequencing Identified Rare Variants in PCDHGB1
            in Patients with Adult-Onset Dystonia.
REFERENCE   2  (bases 1 to 4748)
  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 4748)
  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   4  (bases 1 to 4748)
  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   5  (bases 1 to 4748)
  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   6  (bases 1 to 4748)
  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   7  (bases 1 to 4748)
  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 Sep 16, 2020 this sequence version replaced NM_018922.2.
            
            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).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF152330.1, SRR11853566.23019.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154665, SAMEA2157437
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000523390.2/ ENSP00000429273.1
            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
            1-2571              AC005618.1         61611-64181
            2572-2630           AC008781.7         156232-156290       c
            2631-2719           AC008781.7         145616-145704       c
            2720-4748           AC008781.7         138122-140150       c
FEATURES             Location/Qualifiers
     source          1..4748
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..4748
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /note="protocadherin gamma subfamily B, 1"
                     /db_xref="GeneID:56104"
                     /db_xref="HGNC:HGNC:8708"
                     /db_xref="MIM:606299"
     exon            1..2571
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..2946
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; protocadherin gamma-B1"
                     /codon_start=1
                     /product="protocadherin gamma-B1 isoform 1 precursor"
                     /protein_id="NP_061745.1"
                     /db_xref="CCDS:CCDS54923.1"
                     /db_xref="GeneID:56104"
                     /db_xref="HGNC:HGNC:8708"
                     /db_xref="MIM:606299"
                     /translation="MQRAREAEMMKSQVLFPFLLSLFCGAISQQIRYTIPEELANGSR
                     VGKLAKDLGLSVRELPTRKLRVSAEDYFNVSLESGDLLVNGRIDREKICGRKLECALE
                     FETVAENPMNVFHVVVVIQDINDNAPRFVAKGIDLEICESALPGVKFSLDSAQDADVE
                     GNSLKLYTINPNQYFSLSTKESPDGSKYPVLLLEKPLDREHQSSHRLILTAMDGGDPP
                     LSGTTHIWIRVTDANDNAPVFSQEVYRVSLQENVPWGTSVLRVMATDQDEGINAEITY
                     AFLNSPISTSLFNLNPNTGDITTNGTLDFEETSRYVLSVEAKDGGVHTAHCNVQIEIV
                     DENDNAPEVTFMSFSNQIPEDSDLGTVIALIKVRDKDSGQNGMVTCYTQEEVPFKLES
                     TSKNYYKLVIAGALNREQTADYNVTIIATDKGKPALSSRTSITLHISDINDNAPVFHQ
                     ASYVVHVSENNPPGASIAQVSASDPDLGPNGRVSYSILASDLEPRELLSYVSVSPQSG
                     VVFAQRAFDHEQLRAFELTLQARDQGSPALSANVSLRVLVGDLNDNAPRVLYPALGPD
                     GSALFDMVPRAAEPGYLVTKVVAVDADSGHNAWLSYHVLQASEPGLFSLGLRTGEVRT
                     ARALGDRDAARQRLLVAVRDGGQPPLSATATLHLIFADSLQEVLPDLSDRPEPSDPQT
                     ELQFYLVVALALISVLFLLAVILAIALRLRRSSSLDTEGCFQTGLCSKSGPGVPPNHS
                     EGTLPYSYNLCIASHSAKTEFNSLNLTPEMAPPQDLLCDDPSMVVCASNEDHKIAYDP
                     SLSSHQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAAD
                     GSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGKAPAGG
                     NGNKKKSGKKEKK"
     exon            2572..2630
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2631..2719
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /inference="alignment:Splign:2.1.0"
     exon            2720..4748
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4727..4732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /note="hexamer: AATAAA"
     polyA_site      4748
                     /gene="PCDHGB1"
                     /gene_synonym="PCDH-GAMMA-B1"
                     /note="major polyA site"
ORIGIN      
        1 gccttcctgc tttgtccggt gcactgagca cagacgctgc tcctgttcac cctcgagcgc
       61 ctaactaata agtcctaagc tcaaatcaca gaagtccagg gtgctgccat ttctttttga
      121 aaaacatccc agaggaaaga agctccgcgg agagttcctg aaatgcagag agccagagaa
      181 gccgaaatga tgaaaagtca ggtactgttt cccttcctgc tgtctttgtt ctgcggggcc
      241 atctcccagc agatccgata cacgattcca gaggagctag ccaacggctc acgggtgggg
      301 aaacttgcca aggatctggg gctcagtgtc cgggagttgc caactcgaaa actgcgggtt
      361 agtgcagagg attatttcaa cgttagtttg gagagcgggg atttgttagt gaacggtagg
      421 atagatcgag agaagatttg cggaaggaaa cttgagtgtg cactagaatt cgaaacggtc
      481 gctgaaaacc caatgaatgt tttccacgtg gttgttgtaa tccaagatat taatgacaat
      541 gcaccacgtt tcgttgcaaa aggcattgac ttagaaattt gtgagtcagc cttacccggg
      601 gtaaaattct ctctggattc tgctcaagat gcagatgtgg aaggcaattc actgaagtta
      661 tacaccatca accccaatca atacttctct ctgtcaacga aggaaagtcc tgatggaagt
      721 aaatatccgg tattactgct ggaaaaacct ctagacaggg aacatcagag ctctcatcgc
      781 ttaatcctga ctgccatgga tggcggggac ccgcctctaa gcggcaccac ccatatctgg
      841 atccgagtta cggatgccaa tgataatgct cccgtgttta gccaggaggt atacagggtt
      901 agcctccaag aaaacgtacc gtggggaacc tccgtgctgc gggtgatggc cacagaccag
      961 gatgagggca ttaatgcaga gatcacctat gccttcctca attccccaat aagtaccagc
     1021 ctcttcaatc tcaatccaaa tactggcgac atcacaacca atggcacatt ggattttgaa
     1081 gagacaagta gatatgtgtt gagtgtggaa gctaaggatg gaggagtaca cacagctcac
     1141 tgtaatgttc aaatagaaat tgttgacgag aatgacaatg ccccagaggt gacattcatg
     1201 tccttctcta accagattcc agaggattca gaccttggaa ctgtaatagc cctcataaaa
     1261 gtgcgagaca aggattctgg gcaaaatggc atggtgacat gctatactca ggaagaagtt
     1321 cctttcaaat tagaatccac ctcgaagaat tattacaagc tggtgattgc tggagcccta
     1381 aaccgggagc agacagcaga ctacaacgtc acaatcatag ccaccgacaa gggcaaacca
     1441 gccctttcct ccaggacaag catcaccctg cacatctccg acatcaacga caatgcacct
     1501 gttttccatc aggcctccta tgtggtccac gtgtctgaga acaacccacc tggcgcctcc
     1561 attgcacaag taagcgcctc cgacccggat ttgggaccca acggcagagt ctcctactct
     1621 attctggcca gtgacctgga gccgcgggag ctgttgtcct acgtgtccgt gagcccgcag
     1681 agcggggtgg tgttcgcgca gcgcgccttc gaccacgagc agctgcgcgc cttcgagctc
     1741 acactgcagg ccagggacca gggctccccc gcgctcagcg ccaacgtgag cctgcgcgtg
     1801 ttggtgggcg acctcaatga caatgcgcca cgggtgctgt accccgcgct ggggcctgat
     1861 ggctccgccc tcttcgatat ggtgccacgc gccgcagagc ccggctacct ggtgaccaag
     1921 gtggtggcgg tggacgcaga ctcaggacac aacgcttggc tgtcctacca cgtgctgcag
     1981 gccagcgagc ccgggctctt cagcctgggg ttgcgcacgg gtgaggtgcg cacagcgcgt
     2041 gccttgggcg acagggacgc ggcccgccag cgcctgctgg tcgctgtgcg tgatggagga
     2101 cagccgccac tctccgccac cgccacgctg cacctaatct tcgcggatag cctgcaagag
     2161 gtattgccag acctcagcga ccgccctgag ccctctgacc cccagacgga actgcagttt
     2221 tacctggttg tggccttggc cttgatctca gtgctctttc tcctcgcggt gattctagcg
     2281 atcgccctgc gcctgcgacg ttcctccagc ctcgacactg agggctgctt tcaaaccggt
     2341 ctctgctcca agtctgggcc cggggttcct cccaaccaca gcgaggggac tttgccctat
     2401 tcctacaatc tatgtattgc ctctcattct gcaaagacag agtttaattc tctcaacctg
     2461 acaccggaaa tggctccccc tcaggatctg ctgtgtgatg atccttctat ggttgtatgt
     2521 gccagtaatg aagatcacaa aatcgcttat gacccttctt tgtcttcgca ccaagccccg
     2581 cccaacacgg actggcgttt ctctcaggcc cagagacccg gcaccagcgg ctcccaaaat
     2641 ggcgatgaca ccggcacctg gcccaacaac cagtttgaca cagagatgct gcaagccatg
     2701 atcttggcgt ccgccagtga agctgctgat gggagctcca ccctgggagg gggtgccggc
     2761 accatgggat tgagcgcccg ctacggaccc cagttcaccc tgcagcacgt gcccgactac
     2821 cgccagaatg tctacatccc aggcagcaat gccacactga ccaacgcagc tggcaagcgg
     2881 gatggcaagg ccccagcagg tggcaatggc aacaagaaga agtcgggcaa gaaggagaag
     2941 aagtaacatg gaggccaggc caagagccac agggcggcct ctccccaacc agcccagctt
     3001 ctccttacct gcacccaggc ctcagagttt cagggctaac ccccagaata ctggtagggg
     3061 ccaaggccat gctccccttg ggaaacagaa acaagtgccc agtcagcacc taccccttcc
     3121 cccccagggg gttgaatatg caaaagcagt tccgctggga acccccatcc aatcaactgc
     3181 tgtacccatg ggggtagtgg ggttactgta gacaccaaga accatttgcc acaccccgtt
     3241 tagttacagc tgaactcctc catcttccaa atcaatcagg cccatccatc ccatgcctcc
     3301 ctcctcccca ccccactcca acagttcctc tttcccgagt aaggtggttg gggtgttgaa
     3361 gtaccaagta acctacaagc ctcctagttc tgaaaagttg gaagggcatc atgacctctt
     3421 ggcctctcct ttgattctca atcttccccc aaagcatggt ttggtgccag ccccttcacc
     3481 tccttccaga gcccaagatc aatgctcaag ttttggagga catgatcacc atccccatgg
     3541 tactgatgct tgctggattt agggagggca ttttgctacc aagcctcttc ccaacgccct
     3601 ggggaccagt cttctgtttt gtttttcatt gtttgacgtt tccactgcat gccttgactt
     3661 cccccacctc ctcctcaaac aagagactcc actgcatgtt ccaagacagt atggggtggt
     3721 aagataagga agggaagtgt gtggatgtgg atggtggggg catggacaaa gcttgacaca
     3781 tcaagttatc aaggccttgg aggaggctct gtatgtcctc aggggactga caacatcctc
     3841 cagattccag ccataaacca ataactaggc tggacccttc ccactacata atagggctca
     3901 gcccaggcag ccagctttgg gctgagctaa caggaccaat ggattaaact ggcatttcag
     3961 tccaaggaag ctcgaagcag gtttaggacc aggtcccctt gagaggtcag aggggcctct
     4021 gtgggtgctg ggtactccag aggtgccact ggtggaaggg tcagcggagc cccagcagga
     4081 agggtgggcc agccaggcca ttcttagtcc ctgggttggg gaggcaggga gctagggcag
     4141 ggaccaaatg aacagaaagt ctcagcccag gatggggctt cttcaacagg gcccctgccc
     4201 tcctgaagcc tcagtccttc accttgccag gtgccgtttc tcttccgtga aggccactgc
     4261 ccaggtcccc agtgcgcccc ctagtggcca tagcctggtt aaagttcccc agtgcctcct
     4321 tgtgcataga ccttcttctc ccaccccctt ctgcccctgg gtccccggcc atccagcggg
     4381 gctgccagag aaccccagac ctgcccttac agtagtgtag cgccccctcc ctctttcggc
     4441 tggtgtagaa tagccagtag tgtagtgcgg tgtgctttta cgtgatggcg ggtgggcagc
     4501 gggcggcggg ctccgcgcag ccgtctgtcc ttgatctgcc cgcggcggcc cgtgttgtgt
     4561 tttgtgctgt gtccacgcgc taaggcgacc ccctcccccg tactgacttc tcctataagc
     4621 gcttctcttc gcatagtcac gtagctccca ccccaccctc ttcctgtgtc tcacgcaagt
     4681 tttatactct aatatttata tggctttttt tcttcgacaa aaaaataata aaacgtttct
     4741 tctgaaaa
//
