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2024-04-20 20:57:23, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018935 2891 bp mRNA linear PRI 10-JUL-2013
DEFINITION Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.
ACCESSION NM_018935
VERSION NM_018935.3 GI:522838277
KEYWORDS RefSeq.
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 2891)
AUTHORS Vanhalst K, Kools P, Vanden Eynde E and van Roy F.
TITLE The human and murine protocadherin-beta one-exon gene families show
high evolutionary conservation, despite the difference in gene
number
JOURNAL FEBS Lett. 495 (1-2), 120-125 (2001)
PUBMED 11322959
REFERENCE 2 (bases 1 to 2891)
AUTHORS Wu Q, Zhang T, Cheng JF, Kim Y, Grimwood J, Schmutz J, Dickson M,
Noonan JP, Zhang MQ, Myers RM 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 3 (bases 1 to 2891)
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 4 (bases 1 to 2891)
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 5 (bases 1 to 2891)
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 6 (bases 1 to 2891)
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 AK312794.1, BC038797.1,
AF217742.1 and AI473490.1.
On Jul 10, 2013 this sequence version replaced gi:14195603.
Summary: This gene is a member of the protocadherin beta gene
cluster, one of three related gene clusters tandemly linked on
chromosome five. The gene clusters demonstrate an unusual genomic
organization similar to that of B-cell and T-cell receptor gene
clusters. The beta cluster contains 16 genes and 3 pseudogenes,
each encoding 6 extracellular cadherin domains and a cytoplasmic
tail that deviates from others in the cadherin superfamily. The
extracellular domains interact in a homophilic manner to specify
differential cell-cell connections. Unlike the alpha and gamma
clusters, the transcripts from these genes are made up of only one
large exon, not sharing common 3' exons as expected. These neural
cadherin-like cell adhesion proteins are integral plasma membrane
proteins. Their specific functions are unknown but they most likely
play a critical role in the establishment and function of specific
cell-cell neural connections. [provided by RefSeq, Jul 2008].
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-64 AK312794.1 2-65
65-230 BC038797.1 1-166
231-2671 AF217742.1 1-2441
2672-2891 AI473490.1 1-220 c
FEATURES Location/Qualifiers
source 1..2891
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q31"
gene 1..2891
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="protocadherin beta 15"
/db_xref="GeneID:56121"
/db_xref="HGNC:8686"
/db_xref="HPRD:06959"
/db_xref="MIM:606341"
exon 1..2886
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/inference="alignment:Splign:1.39.8"
misc_feature 180..182
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="upstream in-frame stop codon"
CDS 231..2594
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="protocadherin beta-15"
/codon_start=1
/product="protocadherin beta-15 precursor"
/protein_id="NP_061758.1"
/db_xref="GI:9256610"
/db_xref="CCDS:CCDS4257.1"
/db_xref="GeneID:56121"
/db_xref="HGNC:8686"
/db_xref="HPRD:06959"
/db_xref="MIM:606341"
/translation="
MEPAGERFPEQRQVLILLLLLEVTLAGWEPRRYSVMEETERGSFVANLANDLGLGVGELAERGARVVSEDNEQGLQLDLQTGQLILNEKLDREKLCGPTEPCIMHFQVLLKKPLEVFRAELLVTDINDHSPEFPEREMTLKIPETSSLGTVFPLKKARDLDVGSNNVQNYNISPNSHFHVSTRTRGDGRKYPELVLDTELDREEQAELRLTLTAVDGGSPPRSGTVQILILVLDANDNAPEFVQALYEVQVPENSPVGSLVVKVSARDLDTGTNGEISYSLYYSSQEIDKPFELSSLSGEIRLIKKLDFETMSSYDLDIEASDGGGLSGKCSVSVKVLDVNDNFPELSISSLTSPIPENSPETEVALFRIRDRDSGENGKMICSIQDDVPFKLKPSVENFYRLVTEGALDRETRAEYNITITITDLGTPRLKTEQSITVLVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPRDPHLPLTSLVSINTDNGHLFALQSLDYEALQAFEFRVGATDRGFPALSSEALVRVLVLDANDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDVAKHRLVVLVKDNGEPPRSATATLQVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVFLFVAVRLCRRSRAASVGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGGSESNDFKFLKPIFPNIVSQDSRRKSEFLE
"
sig_peptide 231..308
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 309..2591
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/product="Protocadherin beta-15"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y5E8.1)"
misc_feature 315..566
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Cadherin-like; Region: Cadherin_2; pfam08266"
/db_xref="CDD:203892"
misc_feature order(339..344,501..503,507..509,603..605,609..614)
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206635"
misc_feature 639..944
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(660..665,831..833,837..839,930..932,936..941)
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 969..1259
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(987..992,1152..1154,1158..1160,1245..1247,
1251..1256)
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 1296..1571
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(1302..1307,1458..1460,1464..1466,1557..1559,
1563..1568)
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 1593..1901
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(1614..1619,1788..1790,1794..1796,1887..1889,
1893..1898)
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 1956..2222
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(1962..1967,2121..2123,2127..2129,2220..2222)
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 2301..2363
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y5E8.1);
transmembrane region"
STS 2494..2619
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/standard_name="STS-H17959"
/db_xref="UniSTS:55182"
STS 2497..2620
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
/standard_name="RH66181"
/db_xref="UniSTS:34994"
polyA_signal 2809..2814
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
polyA_site 2835
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
polyA_signal 2862..2867
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
polyA_site 2886
/gene="PCDHB15"
/gene_synonym="PCDH-BETA15"
ORIGIN
aaaaaaaggaaaaggaaaaagcccatgaaatgctactagctacttcagacctctttcagcctaagaggaaagcctgttagcagagcacggaccagtgtctccggagaatgctattctcctacatttccgaacaggttatcaacgcacagatcgatcactgcctctgtcccatcgctccctgaagtagctctgactccggttccttgaaaggggcgtgtacagaagtaaagatggagcctgcaggggagcgctttcccgaacaaaggcaagtcctgattctccttcttttactggaagtgactctggcaggctgggaaccccgtcgctattctgtgatggaggaaacagagagaggttcttttgtagccaacctggccaatgacctagggctgggagtgggggagctagccgagcggggagcccgggtagtttctgaggataacgaacaaggcttgcagcttgatctgcagaccgggcagttgatattaaatgagaagctggaccgggagaagctgtgtggccctactgagccctgtataatgcatttccaagtgttactgaaaaaacctttggaagtatttcgagctgaactactagtgacagacataaacgatcattctcctgagtttcctgaaagagaaatgaccctgaaaatcccagaaactagctcccttgggactgtgtttcctctgaaaaaagctcgggacttggacgtgggcagcaataatgttcaaaactacaatatttctcccaattctcatttccatgtttccactcgcacccgaggggatggcaggaaatacccagagctggtgctggacacagaactggatcgcgaggagcaggccgagctcagattaaccttgacagcggtggacggtggctctccaccccgatctggcaccgtccagatcctcatcttggtcttggacgccaatgacaatgccccggagtttgtgcaggcgctctacgaggtgcaggtcccagagaacagcccagtaggctccctagttgtcaaggtctctgctagggatttagacactgggacaaatggagagatatcatactccctttattacagctctcaggagatagacaaaccttttgagctaagcagcctttcaggagaaattcgactaattaaaaaactagattttgagacaatgtcttcgtatgatctagatatagaggcatctgatggcgggggactttctggaaaatgctctgtctctgttaaggtgctggatgttaacgataacttcccggaactaagtatttcatcacttaccagccctattcccgagaattctccagagacagaagtggccctgtttaggattagagaccgagactctggggaaaatggaaaaatgatttgctcaattcaggatgatgttccttttaagctaaaaccttctgttgagaatttctacaggctggtaacagaaggggcgctggacagagagaccagagccgagtacaacatcaccatcaccatcacagacttggggactccaaggctgaaaaccgagcagagcataaccgtgctggtgtcggacgtcaatgacaacgcccccgccttcacccaaacctcctacaccctgttcgtccgcgagaacaacagccccgccctgcacatcggcagtgtcagcgccacagacagagactcgggcaccaacgcccaggtcacctactcgctgctgccgccccgggacccgcacctgcccctcacctccctggtctccattaacacggacaacggccacctgttcgctctccagtcgctggactacgaggccctgcaggctttcgagttccgcgtgggcgccacagaccgcggcttcccggcgctgagcagcgaggcgctggtgcgagtgctggtgctggacgccaacgacaactcgcccttcgtgctgtacccgctgcagaacggctccgcgccctgcaccgagctggtgccccgggcggccgagccgggctacctggtgaccaaggtggtggcggtggacggcgactcgggccagaacgcctggctgtcgtaccagctgctcaaggccacggagcccgggctgttcggcgtgtgggcgcacaatggcgaggtgcgcaccgccaggctgctgagcgagcgcgacgtggccaagcacaggctagtggtgctggtcaaggacaatggcgagcctccgcgctcggccaccgccacgctgcaagtgctcctggtggacggcttctctcagccctacctgccgctcccagaggcggccccggcccaagcccaggccgactcgcttaccgtctacctggtggtggcattggcctcggtgtcttcgctcttcctcttctcggtgttcctgttcgtggcagtgcggctgtgcaggaggagcagggcggcctcagtgggtcgctgctcggtgcccgagggcccctttccagggcatctggtggacgtgagcggcaccgggaccctttcccagagctaccagtacgaggtgtgtctgacgggaggctctgaaagtaatgatttcaagttcttgaagcctatattcccaaatattgtaagccaggactctaggaggaaatcagaatttctagaataatgtaggtatctgtagctttccgaccgtctgttaattttgtcttcctcacttttcaccttagttttttttaaccctttagtaatcttgaattctacttttttttaaatttctactgttgtctttagtaatgttactcatttcctttgtctgattgttagttttcaaattattgtattattataaatattttatatcaggaaagttcatatttctgaataaattaatagtattcattcctgaagggtgatatgaaagttaaccccacctaataaacataactctaattctgaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:56121 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:56121 -> Biological process: GO:0007155 [cell adhesion] evidence: TAS
GeneID:56121 -> Biological process: GO:0007156 [homophilic cell adhesion] evidence: IEA
GeneID:56121 -> Biological process: GO:0007399 [nervous system development] evidence: TAS
GeneID:56121 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS
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