LOCUS       NM_032420               4814 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.
ACCESSION   NM_032420
VERSION     NM_032420.5
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 4814)
  AUTHORS   Held,M., Kozmar,A., Sestan,M., Turudic,D., Kifer,N., Srsen,S.,
            Gagro,A., Frkovic,M. and Jelusic,M.
  TITLE     Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and PCDH1 in IgA
            Vasculitis (IgAV)
  JOURNAL   Int J Mol Sci 25 (8), 4383 (2024)
   PUBMED   38673968
  REMARK    GeneRIF: Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and
            PCDH1 in IgA Vasculitis (IgAV).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4814)
  AUTHORS   Ye,Z., Yang,Y., Wei,Y., Li,L., Wang,X. and Zhang,J.
  TITLE     PCDH1 promotes progression of pancreatic ductal adenocarcinoma via
            activation of NF-kappaB signalling by interacting with KPNB1
  JOURNAL   Cell Death Dis 13 (7), 633 (2022)
   PUBMED   35864095
  REMARK    GeneRIF: PCDH1 promotes progression of pancreatic ductal
            adenocarcinoma via activation of NF-kappaB signalling by
            interacting with KPNB1.
            Erratum:[Cell Death Dis. 2024 Jan 9;15(1):22. doi:
            10.1038/s41419-023-06403-w.. PMID: 38195622]
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4814)
  AUTHORS   Jangra,R.K., Herbert,A.S., Li,R., Jae,L.T., Kleinfelter,L.M.,
            Slough,M.M., Barker,S.L., Guardado-Calvo,P., Roman-Sosa,G.,
            Dieterle,M.E., Kuehne,A.I., Muena,N.A., Wirchnianski,A.S.,
            Nyakatura,E.K., Fels,J.M., Ng,M., Mittler,E., Pan,J., Bharrhan,S.,
            Wec,A.Z., Lai,J.R., Sidhu,S.S., Tischler,N.D., Rey,F.A., Moffat,J.,
            Brummelkamp,T.R., Wang,Z., Dye,J.M. and Chandran,K.
  TITLE     Protocadherin-1 is essential for cell entry by New World
            hantaviruses
  JOURNAL   Nature 563 (7732), 559-563 (2018)
   PUBMED   30464266
  REMARK    GeneRIF: identification of the human asthma-associated gene
            protocadherin-1 as an essential determinant of entry and infection
            in pulmonary endothelial cells by two hantaviruses that cause
            hantavirus pulmonary syndrome, Andes virus and Sin Nombre virus;
            the surface glycoproteins of ANDV and SNV directly recognize the
            outermost extracellular repeat domain of PCDH1-a member of the
            cadherin superfamily--to exploit PCDH1 for entry
REFERENCE   4  (bases 1 to 4814)
  AUTHORS   Faura Tellez,G., Willemse,B.W., Brouwer,U., Nijboer-Brinksma,S.,
            Vandepoele,K., Noordhoek,J.A., Heijink,I., de Vries,M.,
            Smithers,N.P., Postma,D.S., Timens,W., Wiffen,L., van Roy,F.,
            Holloway,J.W., Lackie,P.M., Nawijn,M.C. and Koppelman,G.H.
  TITLE     Protocadherin-1 Localization and Cell-Adhesion Function in Airway
            Epithelial Cells in Asthma
  JOURNAL   PLoS One 11 (10), e0163967 (2016)
   PUBMED   27701444
  REMARK    GeneRIF: Results show that PCDH1 is localized to the cell membrane
            of bronchial epithelial cells basolateral to the adherens junction.
            Its expression is not reduced nor delocalized in asthma even though
            PCDH1 contributes to homotypic adhesion, epithelial barrier
            formation and repair.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4814)
  AUTHORS   Kozu,Y., Gon,Y., Maruoka,S., Kazumichi,K., Sekiyama,A., Kishi,H.,
            Nomura,Y., Ikeda,M. and Hashimoto,S.
  TITLE     Protocadherin-1 is a glucocorticoid-responsive critical regulator
            of airway epithelial barrier function
  JOURNAL   BMC Pulm Med 15, 80 (2015)
   PUBMED   26227965
  REMARK    GeneRIF: PCDH1 is important for airway function as a physical
            barrier, and its dysfunction is involved in the pathogenesis of
            allergic airway inflammation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4814)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   7  (bases 1 to 4814)
  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 4814)
  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 4814)
  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 4814)
  AUTHORS   Sano,K., Tanihara,H., Heimark,R.L., Obata,S., Davidson,M., St
            John,T., Taketani,S. and Suzuki,S.
  TITLE     Protocadherins: a large family of cadherin-related molecules in
            central nervous system
  JOURNAL   EMBO J 12 (6), 2249-2256 (1993)
   PUBMED   8508762
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA096772.1, BC035812.1,
            AK304231.1, L11369.1, AC094107.3 and BM680840.1.
            
            On May 21, 2020 this sequence version replaced NM_032420.4.
            
            Summary: This gene belongs to the protocadherin subfamily within
            the cadherin superfamily. The encoded protein is a membrane protein
            found at cell-cell boundaries. It is involved in neural cell
            adhesion, suggesting a possible role in neuronal development. The
            protein includes an extracelllular region, containing 7
            cadherin-like domains, a transmembrane region and a C-terminal
            cytoplasmic region. Cells expressing the protein showed cell
            aggregation activity. Alternative splicing occurs in this gene.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) represents the longest
            transcript and encodes the longest isoform (2).
            
            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 :: SRR14038193.3927683.1,
                                           SRR11853564.22665.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000287008.8/ ENSP00000287008.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-31                DA096772.1         1-31
            32-2397             BC035812.1         1-2366
            2398-3247           AK304231.1         2283-3132
            3248-3613           L11369.1           163-528
            3614-4233           AC094107.3         66354-66973         c
            4234-4793           BM680840.1         18-577              c
            4794-4814           AC094107.3         65773-65793         c
FEATURES             Location/Qualifiers
     source          1..4814
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..4814
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /note="protocadherin 1"
                     /db_xref="GeneID:5097"
                     /db_xref="HGNC:HGNC:8655"
                     /db_xref="MIM:603626"
     exon            1..188
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /inference="alignment:Splign:2.1.0"
     CDS             149..3862
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; protocadherin 42; cadherin-like protein 1;
                     cadherin-like 1"
                     /codon_start=1
                     /product="protocadherin-1 isoform 2 precursor"
                     /protein_id="NP_115796.2"
                     /db_xref="CCDS:CCDS4267.1"
                     /db_xref="GeneID:5097"
                     /db_xref="HGNC:HGNC:8655"
                     /db_xref="MIM:603626"
                     /translation="MDSGAGGRRCPEAALLILGPPRMEHLRHSPGPGGQRLLLPSMLL
                     ALLLLLAPSPGHATRVVYKVPEEQPPNTLIGSLAADYGFPDVGHLYKLEVGAPYLRVD
                     GKTGDIFTTETSIDREGLRECQNQLPGDPCILEFEVSITDLVQNGSPRLLEGQIEVQD
                     INDNTPNFASPVITLAIPENTNIGSLFPIPLASDRDAGPNGVASYELQAGPEAQELFG
                     LQVAEDQEEKQPQLIVMGNLDRERWDSYDLTIKVQDGGSPPRASSALLRVTVLDTNDN
                     APKFERPSYEAELSENSPIGHSVIQVKANDSDQGANAEIEYTFHQAPEVVRRLLRLDR
                     NTGLITVQGPVDREDLSTLRFSVLAKDRGTNPKSARAQVVVTVKDMNDNAPTIEIRGI
                     GLVTHQDGMANISEDVAEETAVALVQVSDRDEGENAAVTCVVAGDVPFQLRQASETGS
                     DSKKKYFLQTTTPLDYEKVKDYTIEIVAVDSGNPPLSSTNSLKVQVVDVNDNAPVFTQ
                     SVTEVAFPENNKPGEVIAEITASDADSGSNAELVYSLEPEPAAKGLFTISPETGEIQV
                     KTSLDREQRESYELKVVAADRGSPSLQGTATVLVNVLDCNDNDPKFMLSGYNFSVMEN
                     MPALSPVGMVTVIDGDKGENAQVQLSVEQDNGDFVIQNGTGTILSSLSFDREQQSTYT
                     FQLKAVDGGVPPRSAYVGVTINVLDENDNAPYITAPSNTSHKLLTPQTRLGETVSQVA
                     AEDFDSGVNAELIYSIAGGNPYGLFQIGSHSGAITLEKEIERRHHGLHRLVVKVSDRG
                     KPPRYGTALVHLYVNETLANRTLLETLLGHSLDTPLDIDIAGDPEYERSKQRGNILFG
                     VVAGVVAVALLIALAVLVRYCRQREAKSGYQAGKKETKDLYAPKPSGKASKGNKSKGK
                     KSKSPKPVKPVEDEDEAGLQKSLKFNLMSDAPGDSPRIHLPLNYPPGSPDLGRHYRSN
                     SPLPSIQLQPQSPSASKKHQVVQDLPPANTFVGTGDTTSTGSEQYSDYSYRTNPPKYP
                     SKQLPHRRVTFSATSQAQELQDPSQHSYYDSGLEESETPSSKSSSGPRLGPLALPEDH
                     YERTTPDGSIGEMEHPENDLRPLPDVAMTGTCTRECSEFGHSDTCWMPGQSSPSRRTK
                     SSALKLSTFVPYQDRGGQEPAGAGSPSPPEDRNTKTAPVRLLPSYSAFSHSSHDSCKD
                     SATLEEIPLTQTSDFPPAATPASAQTAKREIYL"
     exon            189..1051
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..3247
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /inference="alignment:Splign:2.1.0"
     exon            3248..3467
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /inference="alignment:Splign:2.1.0"
     exon            3468..4814
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      4531
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /note="major polyA site"
     polyA_site      4549
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
     regulatory      4790..4795
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /note="hexamer: AATACA"
     polyA_site      4814
                     /gene="PCDH1"
                     /gene_synonym="PC42; PCDH42"
                     /note="major polyA site"
ORIGIN      
        1 acacactcgg ggagcgggag cgcggcgcgg acgcaaagcc gccgggctgc tgcgcccaga
       61 gccagccgga gccggagccg gagcccgaac tgcagctcca gccccagccg tgcggagccg
      121 cagcccaggc cggggccggc ggcggctcat ggacagcggg gcgggcggcc ggcgctgccc
      181 ggaggcggcc ctcctgattc tggggcctcc caggatggag cacctgaggc acagcccagg
      241 ccctgggggg caacggctac tgctgccctc catgctgcta gcactgctgc tcctgctggc
      301 tccatcccca ggccacgcca ctcgggtagt gtacaaggtg ccggaggaac agccacccaa
      361 caccctcatt gggagcctcg cagccgacta tggttttcca gatgtggggc acctgtacaa
      421 gctagaggtg ggtgccccgt accttcgcgt ggatggcaag acaggtgaca ttttcaccac
      481 cgagacctcc atcgaccgtg aggggctccg tgaatgccag aaccagctcc ctggtgatcc
      541 ctgcatcctg gagtttgagg tatctatcac agacctcgtg cagaatggca gcccccggct
      601 gctagagggc cagatagaag tacaagacat caatgacaac acacccaact tcgcctcacc
      661 agtcatcact ctggccatcc ctgagaacac caacatcggc tcactcttcc ccatcccgct
      721 ggcttcagac cgtgatgctg gtcccaacgg tgtggcatcc tatgagctgc aggctgggcc
      781 tgaggcccag gagctatttg ggctgcaggt ggcagaggac caggaggaga agcaaccaca
      841 gctcattgtg atgggcaacc tggaccgtga gcgctgggac tcctatgacc tcaccatcaa
      901 ggtgcaggat ggcggcagcc ccccacgcgc cagcagtgcc ctgctgcgtg tcaccgtgct
      961 tgacaccaat gacaacgccc ccaagtttga gcggccctcc tatgaggccg aactatctga
     1021 gaatagcccc ataggccact cggtcatcca ggtgaaggcc aatgactcag accaaggtgc
     1081 caatgcagaa atcgaataca cattccacca ggcgcccgaa gttgtgaggc gtcttcttcg
     1141 actggacagg aacactggac ttatcactgt tcagggcccg gtggaccgtg aggacctaag
     1201 caccctgcgc ttctcagtgc ttgctaagga ccgaggcacc aaccccaaga gtgcccgtgc
     1261 ccaggtggtt gtgaccgtga aggacatgaa tgacaatgcc cccaccattg agatccgggg
     1321 catagggcta gtgactcatc aagatgggat ggctaacatc tcagaggatg tggcagagga
     1381 gacagctgtg gccctggtgc aggtgtctga ccgagatgag ggagagaatg cagctgtcac
     1441 ctgtgtggtg gcaggtgatg tgcccttcca gctgcgccag gccagtgaga caggcagtga
     1501 cagcaagaag aagtatttcc tgcagactac caccccgcta gactacgaga aggtcaaaga
     1561 ctacaccatt gagattgtgg ctgtggactc tggcaacccc ccactctcca gcactaactc
     1621 cctcaaggtg caggtggtgg acgtcaatga caacgcacct gtcttcactc agagtgtcac
     1681 tgaggtcgcc ttcccggaaa acaacaagcc tggtgaagtg attgctgaga tcactgccag
     1741 tgatgctgac tctggctcta atgctgagct ggtttactct ctggagcctg agccggctgc
     1801 taagggcctc ttcaccatct cacccgagac tggagagatc caggtgaaga catctctgga
     1861 tcgggaacag cgggagagct atgagttgaa ggtggtggca gctgaccggg gcagtcctag
     1921 cctccagggc acagccactg tccttgtcaa tgtgctggac tgcaatgaca atgaccccaa
     1981 atttatgctg agtggctaca acttctcagt gatggagaac atgccagcac tgagtccagt
     2041 gggcatggtg actgtcattg atggagacaa gggggagaat gcccaggtgc agctctcagt
     2101 ggagcaggac aacggtgact ttgttatcca gaatggcaca ggcaccatcc tatccagcct
     2161 gagctttgat cgagagcaac aaagcaccta caccttccag ctgaaggcag tggatggtgg
     2221 cgtcccacct cgctcagctt acgttggtgt caccatcaat gtgctggacg agaatgacaa
     2281 cgcaccctat atcactgccc cttctaacac ctctcacaag ctgctgaccc cccagacacg
     2341 tcttggtgag acggtcagcc aggtggcagc cgaggacttt gactctggtg tcaatgctga
     2401 gctgatctac agcattgcag gtggcaaccc ttatggactc ttccagattg ggtcacattc
     2461 aggtgccatc accctggaga aggagattga gcggcgccac catgggctac accgcctggt
     2521 ggtgaaggtc agtgaccgcg gcaagccccc acgctatggc acagccttgg tccatcttta
     2581 tgtcaatgag actctggcca accgcacgct gctggagacc ctcctgggcc acagcctgga
     2641 cacgccgctg gatattgaca ttgctgggga tccagaatat gagcgctcca agcagcgtgg
     2701 caacattctc tttggtgtgg tggctggtgt ggtggccgtg gccttgctca tcgccctggc
     2761 ggttcttgtg cgctactgca gacagcggga ggccaaaagt ggttaccagg ctggtaagaa
     2821 ggagaccaag gacctgtatg cccccaagcc cagtggcaag gcctccaagg gaaacaaaag
     2881 caaaggcaag aagagcaagt ccccaaagcc cgtgaagcca gtggaggacg aggatgaggc
     2941 cgggctgcag aagtccctca agttcaacct gatgagcgat gcccctgggg acagtccccg
     3001 catccacctg cccctcaact acccaccagg cagccctgac ctgggccgcc actatcgctc
     3061 taactcccca ctgccttcca tccagctgca gccccagtca ccctcagcct ccaagaagca
     3121 ccaggtggta caggacctgc cacctgcaaa cacattcgtg ggcaccgggg acaccacgtc
     3181 cacgggctct gagcagtact ccgactacag ctaccgcacc aaccccccca aataccccag
     3241 caagcagtta cctcaccgcc gcgtcacctt ctcggccacc agccaggccc aggagctgca
     3301 ggacccatcc cagcacagtt actatgacag tggcctggag gagtctgaga cgccgtccag
     3361 caagtcatcc tcagggcctc gactcggtcc cctggccctg cctgaggatc actatgagcg
     3421 caccacccct gatggcagca taggagagat ggagcacccc gagaatgacc ttcgcccttt
     3481 gcctgatgtc gccatgacag gcacatgtac ccgggagtgc agtgagtttg gccactctga
     3541 cacatgctgg atgcctggcc agtcatctcc cagccgccgg accaagagca gcgccctcaa
     3601 actctccacc ttcgtgcctt accaggaccg aggagggcag gagcctgcgg gcgccggcag
     3661 ccccagcccc ccggaagacc ggaacaccaa aacggccccc gtgcgcctcc tgccctccta
     3721 cagtgccttc tcccacagta gccatgattc ctgcaaggac tcggccacct tggaggaaat
     3781 ccccctgacc cagacctcgg acttcccacc cgcagccaca ccggcatctg cccagacggc
     3841 caagcgcgag atctacctgt gagcccccta ctggccggcc ggcccccctc ccccagccgc
     3901 cggccagctc ccaaatggcc cattccaggg cctcactctc caccccttca gcgtggactt
     3961 cctggccagg gccccaagtg ggggtatcac tgacctcatg accacgctgg cccttctccc
     4021 atgcagggtc caggtcctct cccctcattt ccatctccca gcccccaggg gccccttccc
     4081 ctttatgggg cttcccccat ctgatgccca agagggctcc tctgcaatga ctgggctcct
     4141 tcccttgact tccagggagc accccctcga tttgggcaga tggtggagtc aagggtgggc
     4201 agcgtacttc taactcattg tttccctcat ggccgaccag ggcggggata gcatgcccaa
     4261 ttttagccct gaagcagggc tgaactgggg agcccctttc cctgggagct cccagaggaa
     4321 actcttgacc accagtggct ccctgaaggg cttttgttac caaaggtggg gtagggacgg
     4381 gggtgggagt ggagcggagg ccttgttttc ccgtgctgct cctggactgg cccacctgcc
     4441 tgccacatgc ccacgcctag tcccatctgg gcccccattc cctgctggtc atgcagtgtc
     4501 tgtatataag gaccttggaa tgacgtcccc atttctgcct gatttgcaac ttttcttgtt
     4561 gatgtcgtgt tgtcttgggg gacccctctg gggggggacc tgccctgtgc cccctcctcc
     4621 ctgccgcagt gccccccaac ccaggcctct attgttccat gttgtaaata cccctggggc
     4681 catggtggga tgggggtgca ggccagggaa acaacgggtg ggtgggggtg gggacggggg
     4741 taacatttgc ctatcagcag agctgggctt ttatttaatt tttcttaaaa atacaaatct
     4801 ctattttttt ggaa
//
