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2024-04-20 06:55:27, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_018934 3973 bp mRNA linear PRI 11-JUL-2013
DEFINITION Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.
ACCESSION NM_018934
VERSION NM_018934.3 GI:523425739
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 3973)
AUTHORS Frank M and Kemler R.
TITLE Protocadherins
JOURNAL Curr. Opin. Cell Biol. 14 (5), 557-562 (2002)
PUBMED 12231349
REMARK Review article
REFERENCE 2 (bases 1 to 3973)
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 3 (bases 1 to 3973)
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 4 (bases 1 to 3973)
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 3973)
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 3973)
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 3973)
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
REFERENCE 8 (bases 1 to 3973)
AUTHORS Matsuyoshi N, Tanaka T, Toda K and Imamura S.
TITLE Identification of novel cadherins expressed in human melanoma cells
JOURNAL J. Invest. Dermatol. 108 (6), 908-913 (1997)
PUBMED 9182820
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA320459.1, DA103105.1,
BC050417.1, AF217744.1 and AI206913.1.
On Jul 11, 2013 this sequence version replaced gi:14195602.
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
1-482 DA320459.1 1-482
483-606 DA103105.1 256-379
607-1180 BC050417.1 1-574
1181-3924 AF217744.1 1-2744
3925-3973 AI206913.1 1-49 c
FEATURES Location/Qualifiers
source 1..3973
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q31"
gene 1..3973
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="protocadherin beta 14"
/db_xref="GeneID:56122"
/db_xref="HGNC:8685"
/db_xref="HPRD:06958"
/db_xref="MIM:606340"
exon 1..3963
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/inference="alignment:Splign:1.39.8"
misc_feature 995..997
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="upstream in-frame stop codon"
CDS 1181..3577
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="protocadherin beta-14"
/codon_start=1
/product="protocadherin beta-14 precursor"
/protein_id="NP_061757.1"
/db_xref="GI:9256608"
/db_xref="CCDS:CCDS4256.1"
/db_xref="GeneID:56122"
/db_xref="HGNC:8685"
/db_xref="HPRD:06958"
/db_xref="MIM:606340"
/translation="
MEIRGALDLRKRQVLIFLVLLGLSRAGTESAHYSVAEETEIGSFVANLARDLGLGVEELSSREARVVSDDNKKYLHLDLLTGNLLLNEKLDRDELCGSTEPCVLHFQVVLENPLQFFRFELCVKDINDHSPTFLDKEILIKISEGTTVGATFLMESAQDLDVGSNSLQNYTISPNSHFYIKIPDSSDRKIYPELVLDRALDYEQEAELRLTLTAVDGGSPPKSGTTLVLIKVLDINDNAPEFPQSLYEVQVPEDRPLGSWIATISAKDLDAGNYGKISYTFFHASEDIRKTFEINPISGEVNLRSPLDFEVIQSYTINIQATDGGGLSGKCTLLVKVMDINDNPPEVTISSITKRIPENASETLVALFSILDQDSGDNGRMICSIQDNLPFFLKPTFKNFFTLVSEKALDRESQAEYNITITVTDLGTPRLKTEYNITVLLSDVNDNAPTFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVNYSLLPPQDRHLPLASLVSINADNGHLFALRSLDYEALQEFEFRVGATDRGSPALSSEALVRVLVLDANDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLVVLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVLLFVAVRLCRRSRAASVGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGGSGTNEFKFLKPIIPNFQVHDTGRNMGEIENFRNSFGLNIQ
"
sig_peptide 1181..1258
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 1259..3574
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/product="Protocadherin beta-14"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y5E9.1)"
misc_feature 1274..1516
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Cadherin-like; Region: Cadherin_2; pfam08266"
/db_xref="CDD:203892"
misc_feature order(1289..1294,1451..1453,1457..1459,1553..1555,
1559..1564)
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206635"
misc_feature 1598..1894
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(1610..1615,1781..1783,1787..1789,1880..1882,
1886..1891)
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 1919..2209
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(1937..1942,2102..2104,2108..2110,2195..2197,
2201..2206)
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 2243..2521
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(2252..2257,2408..2410,2414..2416,2507..2509,
2513..2518)
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 2543..2851
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(2564..2569,2738..2740,2744..2746,2837..2839,
2843..2848)
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 2906..3172
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Cadherin tandem repeat domain; Region:
Cadherin_repeat; cd11304"
/db_xref="CDD:206637"
misc_feature order(2912..2917,3071..3073,3077..3079,3170..3172)
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:206637"
misc_feature 3239..3313
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y5E9.1);
transmembrane region"
polyA_signal 3945..3950
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
polyA_site 3963
/gene="PCDHB14"
/gene_synonym="PCDH-BETA14"
ORIGIN
atttttcattacctcaggaaagctttcactgatgtcccaagtccgactttgatcttaattattttatttttgacagacacttaaccagcacttacaaaccactttgtaaatattaattcattagatgcctacgataataatcataggagacaaatattattaccccattttacaggtgaggaaacaaaggtatctataacttgcccaagcttatagatagtaagtcacataaccaggattctaatattgataatttggttccagatcccatattcccaagcactaaggtatgcagcctcctaggtacaagaagtcttttctaggtatttctatattactttttataaatgcatacattatgacatacttcgtttacttgtctgccaatttttctagcttgtgagctctgtaagagcaagaattatctctaacttatttgtgccatgtccttctttatatttttaaaatataaaagtgaaaaaagtaatgatattaccaactatagctgacaacaagtatttacaagagtgaaggagataatatatttgtaattactcgagaaatgacttaaataaaaaattatttcttcagttcagaatattttaacagatcctttagtgccgagcattcaaaacagtgataatgcagtgtatggacttttctggattcaaattcaaacaaaccaacagcaaaggacattttggagagaactggggaaaaccaaatgcagtataaattacaccaaggaattattgctcaagttgttgattgtgaacgttttattacaattatcttttagaaggccttacctattaaaaatacttagtgaagtatttaaaggaaaaaaaatgatgtctgggatttgtttcgaatgttccggatgtatttatgaattactttttcaaagaggaaaacttttttaatgaaaaaaaaaacatggagacacatggtggcgctacaggataagacgaaaacagtacataggctggcacggtgagcttcgctattcaggagaacagaaagcatccaacccactgaaaagacaggcattaaaggagcttcgcctacagagctgctggaggatacactctccagggggttcctgttaaaaaccagagcttcagcttccaaaattacggctgagcttcagtttttccacaagagattgcctaaaggaaccatggagatcagaggggcactcgatctgcgaaaaaggcaagttctaatattccttgttttgctgggattgtctcgggcaggtactgaatctgcacactattctgtggcagaggaaacagaaattggctcttttgtggctaatctagcgagggacctagggctgggggtggaggagctgtcttcacgtgaagcccgggtagtgtctgatgataataaaaagtatttgcaccttgatttgctgactgggaatttgctcctaaatgagaaactagaccgagacgagctgtgtggctccaccgagccctgtgtgctgcattttcaggtggttttggaaaaccctttacagttttttcggtttgagctgtgtgtcaaagacataaatgatcactcccctacatttctagacaaggaaatacttattaaaatatcagaaggtaccactgttggagctacctttctaatggagagtgctcaagatttggatgtcggaagcaacagtctccaaaactacacaattagccccaattctcacttctacattaaaattcccgacagtagtgacagaaagatatacccagagctggtcctagatagagctttagattatgaacaggaagctgaactcagattaacactcacagcagtggatggtggatccccgcccaagtctgggacaactttggttctcatcaaggtgttggacatcaatgataatgcccctgagtttcctcagagtctctatgaggtgcaagtccccgaggacagaccccttggctcctggattgccaccatctcagctaaggatctggatgcaggaaactatggaaaaatatcttacacatttttccatgcatcagaagatattcgtaaaacatttgaaattaatccaatatctggggaagttaatttgagatcacccctggattttgaagtaatacagtcctacactataaatattcaggcaacagatggtgggggtctttcaggaaaatgcacccttctagttaaagttatggatataaacgacaacccaccagaagtgaccatatcgtcgattacaaagagaattccagagaatgcctcagagaccctagtagctctttttagtatcctagaccaagactctggagacaatgggaggatgatttgctctattcaagataacctcccttttttcctgaaaccgaccttcaagaactttttcactctagtttctgaaaaagcactggacagagagagccaagccgagtacaacatcacgatcaccgtcacagacttggggacacccaggctgaaaaccgagtacaacataaccgtgctgctctctgacgtcaatgacaacgcccccaccttcacccaaacctcctacaccctgttcgtccgcgagaacaacagccccgccctgcacatcggcagcgtcagcgccacagacagagactcaggcaccaacgcccaggtcaactactcgctgctgccgccccaggaccggcacctgcccctcgcctccttggtctccatcaacgcggacaatggccacctgtttgccctcaggtcgctggactacgaggccctacaggagttcgagtttcgcgtgggcgccacagaccgcgggtccccggcgttgagcagcgaggcgctggtgcgcgtgctggtgctggacgccaacgacaactcgcccttcgtgctgtacccgctgcagaacggctccgcgccctgcaccgagctggtgccccgggcggccgagccgggctacctggtgaccaaggtggtggcggtggacggcgactcgggccagaacgcctggctgtcgtaccagctgctcaaggccacggagcccgggctgttcggcgtgtgggcgcacaatggcgaggtgcgcaccgccaggctgctgagcgagcgcgacgcggccaagcacaggctggtggtgctggtcaaggacaatggcgagcctcctcgctcggccaccgccacgctgcacgtgctcctggtggacggcttctcccagccctacctgccgctccctgaggcggccccggcccaggcccaggccgactccctcaccgtctacctggtggtggcattggcctcggtgtcgtcgctcttcctcttctcggtgctcctgttcgtggcggtgcggctgtgcaggaggagcagggcggcctcggtgggtcgctgctcggtgcccgagggtccctttccagggcatctggtggacgtgagcggcaccgggaccctgtcccagagctaccaatacgaggtgtgtctgacaggaggttccgggacaaatgagttcaaatttctgaagccgattatccccaattttcaagttcatgacactggtaggaatatgggggaaatcgagaactttcgaaatagctttggacttaacattcaataaaacaatttattttaaatgtctaatttttggttattcttggcaagctgatggtactttttgcataatcttttgtggattcttggttgtactgtagttgcatgcatgattatagctcttgtttttctcacagtttctttaaaaatctttattagtggctataatgacgtggaaatgtaatctgtgttttctggtttttcatttatttggccaaaatgttatattaatggagttattgctatttttgctgtgataatggtattatgcaagaccatattctcaattatttggatatgcaaactaaagtattaagagctaatgtcattatatatgtaacttaaatctagacaccatcaaagcataaaataaaaataaaaagcgttgctgaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:56122 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IEA
GeneID:56122 -> Biological process: GO:0007156 [homophilic cell adhesion] evidence: IEA
GeneID:56122 -> Biological process: GO:0007268 [synaptic transmission] evidence: TAS
GeneID:56122 -> Biological process: GO:0007416 [synapse assembly] evidence: TAS
GeneID:56122 -> Biological process: GO:0016339 [calcium-dependent cell-cell adhesion] evidence: NAS
GeneID:56122 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
GeneID:56122 -> Cellular component: GO:0016021 [integral to membrane] evidence: NAS
by
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