LOCUS       NM_018911               5398 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1,
            mRNA.
ACCESSION   NM_018911
VERSION     NM_018911.3
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 5398)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   2  (bases 1 to 5398)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   3  (bases 1 to 5398)
  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 5398)
  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 5398)
  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 5398)
  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 5398)
  AUTHORS   Sugino,H., Hamada,S., Yasuda,R., Tuji,A., Matsuda,Y., Fujita,M. and
            Yagi,T.
  TITLE     Genomic organization of the family of CNR cadherin genes in mice
            and humans
  JOURNAL   Genomics 63 (1), 75-87 (2000)
   PUBMED   10662547
REFERENCE   8  (bases 1 to 5398)
  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 AC005609.1, AF152316.1 and
            AC010223.6.
            
            On Nov 22, 2018 this sequence version replaced NM_018911.2.
            
            Summary: This gene is a member of the protocadherin alpha gene
            cluster, one of three related gene clusters tandemly linked on
            chromosome five that demonstrate an unusual genomic organization
            similar to that of B-cell and T-cell receptor gene clusters. The
            alpha gene cluster is composed of 15 cadherin superfamily genes
            related to the mouse CNR genes and consists of 13 highly similar
            and 2 more distantly related coding sequences. The tandem array of
            15 N-terminal exons, or variable exons, are followed by downstream
            C-terminal exons, or constant exons, which are shared by all genes
            in the cluster. The large, uninterrupted N-terminal exons each
            encode six cadherin ectodomains while the C-terminal exons encode
            the cytoplasmic domain. These neural cadherin-like cell adhesion
            proteins are integral plasma membrane proteins that most likely
            play a critical role in the establishment and function of specific
            cell-cell connections in the brain. Alternative splicing has been
            observed and additional variants have been suggested but their
            full-length nature has yet to be determined. [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 :: AF152316.1, SRR1803612.167186.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2146411
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000531613.2/ ENSP00000434655.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-135               AC005609.1         50777-50911         c
            136-5395            AF152316.1         1-5260
            5396-5398           AC010223.6         50266-50268         c
FEATURES             Location/Qualifiers
     source          1..5398
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..5398
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /note="protocadherin alpha 8"
                     /db_xref="GeneID:56140"
                     /db_xref="HGNC:HGNC:8674"
                     /db_xref="MIM:606314"
     exon            1..2529
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /inference="alignment:Splign:2.1.0"
     CDS             136..2988
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; KIAA0345-like 6; PCDH-alpha-8"
                     /codon_start=1
                     /product="protocadherin alpha-8 isoform 1 precursor"
                     /protein_id="NP_061734.1"
                     /db_xref="CCDS:CCDS54919.1"
                     /db_xref="GeneID:56140"
                     /db_xref="HGNC:HGNC:8674"
                     /db_xref="MIM:606314"
                     /translation="MDYHWRGELGSWRLLLLLLLLAAWKVGSGQLHYSVPEEAKHGTF
                     VGRIAQDLGLELAELVPRLFRVASKRHRDLLEVSLQNGILFVNSRIDREELCGRSAEC
                     SIHLEVIVDRPLQVFHVDVEVKDVNDNPPVFRVKDQKLFVSESRMPDSRFPLEGASDA
                     DVGANSVLTYRLSSHDYFMLDVNSKNDENKLVELVLRKSLDREDAPAHHLFLTATDGG
                     KPELTGTVQLLVTVLDVNDNAPTFEQSEYEVRIFENADNGTTVIKLNASDPDEGANGA
                     ISYSFNSLVETMVIDHFSIDRNTGEIVIRGNLDFEQENLYKILIDATDKGHPPMAGHC
                     TVLVRILDKNDNVPEIALTSLSLPVREDAQFGTVIALISVNDLDSGANGQVTCSLMPH
                     VPFKLVSTFKNYYSLVLDSALDRERVSAYELVVTARDGGSPSLWATASLSVEVADVND
                     NAPAFAQPEYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVGERSLSSYI
                     SVHTESGKVYALQPLDHEELELLQFQVSARDAGVPPLGSNVTLQVFVLDENDNAPALL
                     EPRVGGTGGAASKLVPRSVGAGHVVAKVRAVDADSGYNAWLSYELQPAASSPRIPFRV
                     GLYTGEISTTRVLDEADSPRHRLLVLVKDHGEPALTATATVLVSLVESGQAPKASSRQ
                     SAGVLGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTALRCSALPTEGGCRAGKPTLV
                     CSSAVGSWSYSQQQPQRVCSGEGPPKTDLMAFSPCLPPDLGSVDVGEEQDLNVDHGLK
                     PRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWPTVSSATPEPEAGEVSP
                     PVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIRQEPTNSQIDKSDFI
                     TFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ"
     exon            2530..2588
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            2589..2677
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /inference="alignment:Splign:2.1.0"
     exon            2678..5398
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4609..4614
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /note="hexamer: AGTAAA"
     polyA_site      4632
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
     regulatory      5378..5383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /note="hexamer: AATGAA"
     polyA_site      5398
                     /gene="PCDHA8"
                     /gene_synonym="PCDH-ALPHA8"
                     /note="major polyA site"
ORIGIN      
        1 cttttctctg acagcatctg tctctaaagg ccgaacaacg ggagatgcag cggaattgga
       61 ttaaaagact ctgaaagtac agtcgttcat ctttatatta agataatatt ttctgatagg
      121 aaacgactat ttaacatgga ttatcactgg cgaggagagc tgggatcctg gcgactacta
      181 ctcttgcttc tgctcctcgc agcctggaag gtggggagcg gccagctcca ctactccgtc
      241 cccgaggagg ccaaacacgg caccttcgtg ggccggatcg cgcaggacct ggggctggag
      301 ctggcggagc tggtgccgcg cctgttccgg gtggcgtcca aaagacaccg ggaccttctg
      361 gaggtaagtc tgcagaatgg cattttgttt gtgaattctc ggatcgaccg cgaggagctg
      421 tgcgggcgga gcgcggagtg cagcatccac ctggaggtga tcgtggacag gccgctgcag
      481 gttttccatg tggacgtgga ggtgaaggat gttaatgaca acccgccagt gttccgggta
      541 aaagaccaaa agctgtttgt ttcagaatcc agaatgccag actctcggtt tccgctagag
      601 ggcgcgtccg atgcagatgt tggagctaac tccgtgttaa cctacaggct tagctctcat
      661 gattacttca tgctagatgt gaattcaaag aacgatgaga ataaactggt tgagctcgta
      721 ttaagaaaat ccttggacag agaggacgct cctgcgcacc acttattcct gacagccaca
      781 gatgggggca aacctgagct cacaggcact gttcagctgc tggtcacagt gctggatgtg
      841 aatgataatg ctcccacttt cgaacagtct gaatacgaag taagaatatt cgaaaacgca
      901 gacaacggaa caacagttat caaactgaat gcttctgatc cggatgaagg agccaatggg
      961 gcaatttcat attcttttaa tagccttgtt gaaactatgg ttattgacca ctttagcata
     1021 gatcgaaata cgggagaaat agtgattcgg ggtaatttgg attttgaaca agaaaactta
     1081 tacaaaatcc tcattgacgc cacggacaaa ggccatcctc ccatggcggg tcattgcacc
     1141 gttttagtga gaattttgga taaaaatgat aacgtccctg agatagcact gacttcctta
     1201 tccttgcctg tacgtgaaga cgctcaattt ggtactgtca tcgccctaat tagcgtgaac
     1261 gacctcgatt caggtgccaa cgggcaggtg acctgctccc tgatgcccca tgtccccttc
     1321 aagctggtgt ccaccttcaa gaattactac tcgttggtgc tggacagcgc cctggaccgc
     1381 gagagagtgt cggcctatga gttggtggta accgcgcggg acgggggctc gccttcgctg
     1441 tgggccaccg ccagcttgtc tgtggaggtg gccgacgtga acgacaatgc tccggcgttc
     1501 gcgcagcccg agtacacggt gttcgtgaag gagaacaacc cgccgggctg ccacatcttc
     1561 acggtgtctg cgcgagacgc ggacgcgcag gagaacgcgc tggtgtccta ctcgcttgtg
     1621 gagcggcggg tgggcgagcg ctcgctgtcg agctacattt cggtgcacac ggagagcggc
     1681 aaggtgtacg cgctgcagcc gctggaccac gaggagctag agctgctgca gttccaggtg
     1741 agcgcgcgcg acgcgggcgt gccgcctctg ggcagcaacg tgacgctgca ggtgttcgtg
     1801 ctggacgaga atgacaacgc gccggcactg ctggagcctc gggtgggtgg cactggtggc
     1861 gcagcgagca agctggtgcc gcggtctgtg ggcgcgggcc acgtggtagc gaaggtgcgc
     1921 gcagtggacg ccgactcggg ctacaacgcg tggctttcgt atgagctgca gccagctgca
     1981 agcagccctc gcatcccgtt ccgcgtgggg ctgtacacgg gcgagatcag caccactcgt
     2041 gtcctggacg aagcggactc tccgcgccac cgtctgctgg tcctggtgaa ggatcatggt
     2101 gaacctgcgc tgaccgccac ggccacggtt ctggtgtcgc tggtggagag cggccaggct
     2161 ccaaaagcgt catcgaggca gtcggctggc gttttgggtc cggaagcggc gctggtggat
     2221 gtcaacgtgt acctgatcat cgccatctgc gcggtatcca gcctgctggt gctcacgctg
     2281 ctgctgtaca ctgcgctgcg gtgctcagca ctgcccactg agggcgggtg ccgggcgggc
     2341 aagcccactc tggtgtgctc cagtgcggtg gggagctggt catactcgca acaacagccg
     2401 cagagggtgt gctctggtga ggggccaccg aagacggacc tcatggcctt cagcccctgc
     2461 cttcctcctg atctgggatc agttgatgta ggcgaagagc aagatttaaa tgttgatcat
     2521 ggcctcaaac cacgacagcc caaccctgac tggcgttact ctgcctccct gagagcaggc
     2581 atgcacagct ctgtgcacct agaggaggct ggcattctac gggctggtcc aggagggcct
     2641 gatcagcagt ggccaacagt atccagtgca acaccagaac cagaggcagg agaagtgtcc
     2701 cctccagtcg gtgcgggtgt caacagcaac agctggacct ttaaatacgg accaggcaac
     2761 cccaaacaat ccggtcccgg tgagttgccc gacaaattca ttatcccagg atctcctgca
     2821 atcatctcca tccggcagga gcctactaac agccaaattg acaaaagtga cttcataacc
     2881 ttcggcaaaa aggaggagac caagaaaaag aagaaaaaga agaagggtaa caagacccag
     2941 gagaaaaaag agaaagggaa cagcacgact gacaacagtg accagtgagg tcctcaaatg
     3001 gaaacaagcc acttagccag tttttgtaat aatggcaaat ctctcccatg tagcaattcc
     3061 ctgctccttt ttcctatcta catgagccct cttagagacc tcagaaatct gcagaaagtt
     3121 ccctgtgtct gtctagaacg catttaacag gttttgtcgt aaaagcttta ctaagtctgg
     3181 tgttaactct ttctctccac tctggcttgt tttcagaacc taaaaagcag acccaagttt
     3241 cctttctcct ccgccgcaaa ggagaggctt cccagccccg ccagtgagag gttggactct
     3301 ctgccctgtg ctccggggat cctgtcttga tgacacttgc agggcaggct gaaaagtttt
     3361 gagattgagc agcttgggag tttgtggcca ctgggtatgt gtggctaccg cgggtatgcg
     3421 agtgccagat attggctgag acgagccagc ttagactaat tggtacaagg aaggcaagaa
     3481 aacaaagaca aataaacagc ggaagttatc agtatggagg ggaagtgtaa acttaaaggg
     3541 accagacttt ctaaatctta caactcaaga ggtggcagcc accctctagg agacaaaact
     3601 acccccactg acaaggcttt aggagaccct aaagtctgtt ggctgtgacg tcattatacc
     3661 taaaatctgc atcatacctg caagccaaca gttcagtgtt ttaacagaga accaccctgg
     3721 gaaacagaag cagatctgat gtgtttccta tacatgtcct gtgctcactt tattaaaaat
     3781 tcttttgcac acaatgttta tgaaaaggcc agatcctttt ccaatactta tgcaaaagca
     3841 aaagaaaacc ccgacacctc acctttcgct gtttgttgtt tcatagattt atttaaaaaa
     3901 agagaaagtc tatagctata aatctttaaa gagaaatatg aatacaattc ccctaaactc
     3961 tcctcaaaag agaattcagt ctacagccat ttaaatgatc attgctgcta cagaagtgct
     4021 ttaagagaat tgcctgaaac atctgtatta tatcggccac ctgccaatca cagctttact
     4081 ctttcaggtc actctggggc tgcctcttgc atgtattact aaataaaatg atctctcttt
     4141 ctctctctct ctctcttttc taagaaacaa ttatgtgcac tttgatacac aaccttctct
     4201 aaccaactat atatcaagac ccaaaaattg aagaaaaata ttgttttctc atacagtgag
     4261 cagatttttc aatctactaa ttctgtgact tgtcttggtg tgctagccta caccttctct
     4321 ttggtttagt tttccttttc tataacactc tgaattgcta atcttactaa cacctatgat
     4381 gttacctgaa atcaatctcc catatgtatg ctgtatgcta tgctaagact cctgaaatat
     4441 acttactctg tgcttgtgta tgtgaatgtt aatgcaacta ttacctagag tgaactttaa
     4501 gctttattgt tgaatgtaat tccattatat ttccttttgt acacctgtga aaaagtggag
     4561 tagtgttttt ttaaccattg ttaatcagct tttgtgtatg aaagacacag taaaatttct
     4621 ttcttaaatc aagatactgg tgattcaagg aattttattt atggtccagc caagagccat
     4681 ctcgtgccaa gacttctgct ggcaagggaa tggataaagc tgttttgttc tagtaacaat
     4741 tttggaatga atactgacaa tattccatga gggtgtgcaa gcacaaattt taccaatctg
     4801 acctctttga agttgcagaa tgctttgaaa ttctaatggt atctgaaata tcagctcata
     4861 gaaagtaaca aaatttgctg tcaccttaaa taagacattt taattttgtt ataatgtaca
     4921 atttagaagt ttgattaatt atattatcta tttaggcatt aatataaaag aggtaggagt
     4981 ctgttattta aaaaaagcat taaatttaaa aaaaaactgt cttgtctact tttagcttca
     5041 ttctcccata ttttgaaggg tgtgtaactt cagctctgca ggattgcatg gggtaaaact
     5101 tgttaccaac acatgtgaac cattgctaca ttgtaggttg tgatcatttt gccccactga
     5161 agcccatgta tctgacctta cgtgcctttt gaactaggag aatcgggcta atttattaat
     5221 gatgataatt ataatgtatc tgtacagcac tttttacatt tgcgaagtgc tttccaatcc
     5281 atgttagtta ctagttatta cagctgtaag gataaaacac gtcatgtgga ttcattttga
     5341 attggtgcta ttggtatttc ctctgttatt gctaataaat gaaaatggtg gtatgaaa
//
