LOCUS HQ116786 3473 bp mRNA linear HUM 20-SEP-2010
DEFINITION Homo sapiens isolate 2A truncated protein tyrosine phosphatase
non-receptor type 14 (PTPN14) mRNA, complete cds.
ACCESSION HQ116786
VERSION HQ116786.1
KEYWORDS .
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 3473)
AUTHORS Au,A.C., Hernandez,P.A., Lieber,E., Nadroo,A.M., Shen,Y.M.,
Kelley,K.A., Gelb,B.D. and Diaz,G.A.
TITLE Protein Tyrosine Phosphatase PTPN14 Is a Regulator of Lymphatic
Function and Choanal Development in Humans
JOURNAL Am. J. Hum. Genet. 87 (3), 436-444 (2010)
PUBMED 20826270
REFERENCE 2 (bases 1 to 3473)
AUTHORS Au,Ac., Diaz,G.A., Gelb,B.D., Hernandez,P.A., Lieber,E.,
Nadroo,A.M., Shen,Y.-M. and Kelley,K.A.
TITLE Direct Submission
JOURNAL Submitted (11-AUG-2010) Genetics & Genomic Sciences, Mount Sinai
School of Medicine, 1468 Madison Avenue, Atran Bldg, Room 3-25, New
York, NY 10029, USA
FEATURES Location/Qualifiers
source 1..3473
/db_xref="H-InvDB:HIT000652905"
/organism="Homo sapiens"
/mol_type="mRNA"
/isolate="2A"
/isolation_source="blood"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q32-q41"
/cell_type="lymphoblastoid"
/PCR_primers="fwd_name: Seq2F, fwd_seq:
atgtgccaaatgtgtcatgg, rev_name: Seq2R, rev_seq:
cccatgtcattccacctgta"
gene <1..>3473
/gene="PTPN14"
/note="PEZ; Ptp36; PTPD2"
CDS 1..636
/gene="PTPN14"
/EC_number="3.1.3.48"
/note="truncated due to deletion; lacks exon 7"
/codon_start=1
/product="truncated protein tyrosine phosphatase
non-receptor type 14"
/protein_id="ADN23590.1"
/db_xref="GeneID:5784"
/db_xref="HGNC:HGNC:9647"
/db_xref="MIM:603155"
/translation="MPFGLKLRRTRRYNVLSKNCFVTRIRLLDSNVIECTLSVESTGQ
ECLEAVAQRLELRETHYFGLWFLSKSQQARWVELEKPLKKHLDKFANEPLLFFGVMFY
VPNVSWLQQEATRYQYYLQVKKDVLEGRLRCTLDQVIRLAGLAVQADFGDYNQFDSQD
FLREYVLFPMDLALEEAVLEELTQKVAQEHKAHRTIMETVYTLAFSLWGFS"
variation 581^582
/gene="PTPN14"
/note="lacks exon 7"
BASE COUNT 916 a 959 c 933 g 665 t
ORIGIN
1 atgccttttg gtctgaagct ccgccggaca cggcgctaca acgtcctgag caagaactgc
61 tttgtcacac ggattcgcct gctggacagc aatgttatcg agtgcacgct gtcggtggaa
121 agcacagggc aagaatgcct ggaggctgtg gcccagaggc tggagctgcg agagacgcac
181 tactttggcc tttggtttct cagcaagagc cagcaagcac gatgggtgga gctggagaaa
241 cctctgaaga aacatctgga caaattcgct aatgagcctt tgcttttctt tggagtcatg
301 ttctatgtgc caaatgtgtc atggcttcag caagaggcca caagatatca gtattacctg
361 caagtcaaaa aagatgtgct tgaagggcga ttacgatgta cattggacca ggtgattcgg
421 ctagccggcc tagctgtgca agctgatttt ggagactata atcagtttga ttctcaagat
481 ttcctcagag agtatgtgct atttcctatg gatttggccc tggaagaggc tgttctggag
541 gagctgaccc agaaggtagc ccaagaacac aaagcccaca ggacaatcat ggaaactgtg
601 tacaccttgg cattttcttt atggggattt tcgtgaggaa cagaattgga agacaagcgg
661 taatatacag gtggaatgac atggggaata tcactcataa caagtcgacc attctagtgg
721 agctcatcaa caaagaagag actgccctct ttcacacgga tgatatcgaa aatgccaagt
781 atatttctcg gttgtttgcc acacgacaca agttttacaa acaaaacaaa atctgcactg
841 aacagtcaaa ttctccaccc cccatcagac gccagcccac ctggagccga tcctctctgc
901 ccaggcagca gccgtacatc ctgcctcccg ttcacgtcca gtgtggtgag cactactcgg
961 aaacgcacac ctcgcaagac agcatttttc atgggaatga agaagccttg tattgcaact
1021 ctcacaacag cctggactta aattatttaa atggcactgt caccaatggc agcgtgtgta
1081 gcgttgacag cgtcaactcc ctcaactgct cgcaaagttt catccaggcc tcccctgtat
1141 cctccaacct cagtatccct gggagtgaca tcatgcgggc cgactacatc ccgagccacc
1201 ggcacagcgc gatcatcgtg ccctcgtaca ggccaacccc cgattatgag acagtcatgc
1261 gccagatgaa gagggggatc ctgcatacag acagccagag ccagtctctg agaaacctca
1321 acattatcaa cacccatgcc tacaaccagc cagaggatct ggtgtacagc caaccggaga
1381 tgcgggagag gcacccctac actgtccctt atgggccaca gggggtctac agcaacaaac
1441 ttgtcagtcc atctgaccag aggaacccaa agaataatgt ggtaccaagc aagccggggg
1501 caagcgccat ctcgcacacg gtgagcaccc cagagctggc caacatgcag ctgcagggca
1561 gccataacta cagcacggcc cacatgctta agaactatct cttcaggcca ccgcccccct
1621 acccacggcc acgacctgcc accagcaccc cagacctggc cagccaccgc cacaagtacg
1681 tcagcggcag cagcccggac ctggtgaccc ggaaggtgca gctctcggtg aagaccttcc
1741 aagaggacag ctctccggtg gttcatcagt ctctccagga ggtgagcgag cccctcacgg
1801 ccaccaagca ccacggcact gtgaacaagc gccacagcct ggaggtgatg aacagcatgg
1861 tgcggggcat ggaggccatg acgctcaagt cgctccacct ccccatggct cgccgcaaca
1921 cgctccggga gcagggaccg cccgaggagg ggtcaggcag ccacgaggtc ccccagctcc
1981 ctcagtatca ccacaagaag accttctctg atgccactat gctaatccac agcagcgaga
2041 gtgaggagga ggaggaggag gctccagaat cggtgcccca gatccccatg ctccgggaga
2101 agatggagta cagtgcccag ctgcaggcgg ccctggcccg catccccaac aagcccccgc
2161 ctgagtaccc cggtccaagg aagagtgtga gcaatggggc tctgaggcag gaccaagcca
2221 gccttcctcc cgccatggcc agagccaggg tgctgaggca tgggccagcc aaggccatca
2281 gcatgtctcg gactgacccg ccggctgtca acggggcctc tctcggccca tccatctcgg
2341 aacccgacct gactagtgtg aaggagcggg tcaaaaaaga gcctgtgaag gagagacctg
2401 tgtctgaaat gttttccctg gaagacagca ttatagagag agagatgatg atcaggaatc
2461 tagagaagca gaagatggca ggcctggagg cacagaagag gccgctgatg ttggcagcat
2521 tgaatgggct ctcggtggct cgagtctcag ggcgggaaga gaatcgagtt gatgccaccc
2581 gggttcccat ggacgagagg ttcagaaccc tgaagaagaa actagaagag ggaatggtgt
2641 tcacagaata tgagcaaatt ccaaagaaaa aggcgaatgg cattttcagc acagcagctc
2701 tgccagaaaa cgccgagcgc agccgaatcc gtgaagttgt cccctatgag gagaatcgag
2761 tagagctgat accaaccaaa gaaaataaca caggatacat taatgcctcc cacatcaagg
2821 tggtggttgg cggggcagaa tggcactaca tagccaccca ggggcccctg ccacacacgt
2881 gccacgactt ctggcagatg gtgtgggagc agggagtgaa tgtgattgcc atggtcactg
2941 cagaggagga gggtggacga accaaaagcc accgatactg gcccaaacta ggttcaaagc
3001 acagctcagc cacctatggc aagttcaagg tcaccacgaa gtttcgaacg gattctgttt
3061 gctatgcaac cacgggcttg aaggtcaagc accttttgtc tgggcaagaa aggacggtgt
3121 ggcatttaca atatactgac tggccagatc acggctgtcc agaagatgtc caaggatttt
3181 tatcctactt ggaggagatc cagtcggtcc gtcgccatac caacagcatg ctggaaggca
3241 ccaagaaccg gcacccgccc atcgtggtcc actgtagtgc tggggtggga aggaccggcg
3301 tgctcattct ttctgagctg atgatctact gcttggaaca taacgaaaag gtggaagtgc
3361 ccatgatgct gaggctcctc agggagcaga ggatgttcat gatccagact atcgctcagt
3421 acaagtttgt ctaccaagtc ctcatccagt tcctccaaaa ctccagactc att
//