LOCUS AY714228 2392 bp mRNA linear HUM 01-MAR-2005
DEFINITION Homo sapiens nephrocystin 5 (NPHP5) mRNA, complete cds.
ACCESSION AY714228
VERSION AY714228.1
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 2392)
AUTHORS Otto,E.A., Loeys,B., Khanna,H., Hellemans,J., Sudbrak,R., Fan,S.,
Muerb,U., O'Toole,J.F., Helou,J., Attanasio,M., Utsch,B.,
Sayer,J.A., Lillo,C., Jimeno,D., Coucke,P., De Paepe,A.,
Reinhardt,R., Klages,S., Tsuda,M., Kawakami,I., Kusakabe,T.,
Omran,H., Imm,A., Tippens,M., Raymond,P.A., Hill,J., Beales,P.,
He,S., Kispert,A., Margolis,B., Williams,D.S., Swaroop,A. and
Hildebrandt,F.
TITLE Nephrocystin-5, a ciliary IQ domain protein, is mutated in
Senior-Loken syndrome and interacts with RPGR and calmodulin
JOURNAL Nat. Genet. 37 (3), 282-288 (2005)
PUBMED 15723066
REFERENCE 2 (bases 1 to 2392)
AUTHORS Otto,E.A., Loeys,B. and Hildebrandt,F.
TITLE Direct Submission
JOURNAL Submitted (10-AUG-2004) Pediatrics, University of Michigan, 1150
West Medical Center Drive, Ann Arbor, MI 48109, USA
FEATURES Location/Qualifiers
source 1..2392
/db_xref="H-InvDB:HIT000257328"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3q21.1"
/cell_type="peripheral blood lymphocytes"
gene 1..2392
/gene="NPHP5"
/gene_synonym="SLSN5"
CDS 210..2006
/gene="NPHP5"
/gene_synonym="SLSN5"
/note="nephronophthisis type 5; senior loken syndrome type
5; calmodulin binding protein"
/codon_start=1
/product="nephrocystin 5"
/protein_id="AAW47233.1"
/translation="MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSS
ELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEE
FYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELI
QNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINSGDLLRIGRKALYSILDEVIFKL
FSTPSPVIRSTATKLLLLMAESHQEILILLRQSTCYKGLRRLLSKQETGTEFSQELRQ
LVGLLSPMVYQEVEEQKLHQAACLIQAYWKGFQTRKRLKKLPSAVIALQRSFRSKRSK
MLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSAL
NIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQEL
TDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHRE
ALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWK
KLGEESGDEIDVPKDELSIELENLFIGGTKPP"
BASE COUNT 776 a 476 c 532 g 608 t
ORIGIN
1 cgcctccagg ccccttcccg cgtcgcgacg cacgctgccc cggaaggccg cggcgctgta
61 gtgcggcgcc ccaggttctt tagtggaaga acgcgaagcg aggatgagtg atccgtggag
121 gcagtaacag gcgcggcgag ggagaagtga ttcccgaaga atcaaggctg ggccggaccc
181 ggtggcctgg caacagggta ataagagaaa tgaagccaac aggtacagac ccaaggatct
241 tatctatagc tgctgaagtt gcaaaaagcc ctgagcagaa tgtccctgtt atactgttga
301 agttaaaaga aataataaac atcacacctt taggaagctc agagttgaag aaaatcaaac
361 aagatatata ttgttatgat ctcattcaat attgcctctt ggtcctcagt caagattatt
421 ctcgaatcca gggtggttgg actacaattt cccagcttac acagatatta agccattgct
481 gtgtgggctt ggagccagga gaagatgcag aggaatttta caatgaatta cttccatcag
541 ctgcagaaaa ttttctagtt ttggggagac aattacaaac atgttttatc aatgcagcta
601 aggctgaaga aaaagatgaa ttactacact ttttccaaat tgtgactgat tctctcttct
661 ggcttttggg aggccatgtt gaacttattc agaatgtact acaaagtgat catttcttac
721 atttactgca agctgacaat gtccaaatag gatctgcagt catgatgatg ctacagaata
781 tattacagat caacagtggt gatttactca gaataggaag aaaagccctg tattcaattt
841 tagatgaagt tattttcaag cttttttcaa ctcctagtcc agttataaga agtactgcta
901 caaaactcct actgttgatg gctgaatccc atcaggaaat tttgatttta ctgagacaaa
961 gtacctgcta caaaggactc agacgtctac taagtaaaca ggaaactggg actgaattca
1021 gtcaagaact tagacagctt gttggccttt taagcccaat ggtctatcag gaagtagaag
1081 agcagaaact acatcaagca gcatgcttga ttcaagccta ttggaagggt tttcagacaa
1141 gaaagagatt aaagaagctt ccatctgctg tgattgcttt gcagaggagt ttcagatcca
1201 aacgatcaaa gatgttgctg gagataaata ggcagaagga agaagaggac ctcaaattac
1261 aattgcaact tcaaagacag agagccatga gactttcccg agaattgcag ctgagtatgc
1321 tcgaaatagt tcatccaggt caggtggaga aacactatcg ggaaatggaa gagaaatcag
1381 cactgaatat ccagaaacat tggagagggt acagggaaag gaaaaatttt caccaacaga
1441 ggcagtctct catagagtat aaagcagctg tcacacttca aagagcagcg cttaaattcc
1501 tagcgaagtg ccgtaagaaa aagaaactat ttgctccttg gcgaggactc caagaactca
1561 ctgatgcacg ccgagttgaa ctgaagaaac gagtggatga ctatgtcaga agacatttgg
1621 gctctccaat gtcagatgtg gtcagtaggg agctccatgc ccaagctcaa gaacgactgc
1681 aacactactt tatgggcagg gccctagaag agcgagccca gcagcacaga gaagctctga
1741 tagcacagat cagcaccaac gttgaacagc taatgaaggc accaagtctg aaggaggcag
1801 aagggaaaga acctgagctc ttcctaagta gatccaggcc tgtggcagcc aaggccaagc
1861 aggcccatct cacaaccctg aagcacatac aagcaccctg gtggaagaag cttggagaag
1921 aatctggaga tgagattgat gttccaaagg atgagcttag tatagaatta gaaaatttat
1981 tcattggtgg aaccaaacca ccttagtgag taaccctaag aattgacaca aatctcatat
2041 tttaggagat tatattggtt ctgcctctgg catgctggta gactagggcc atcctaactt
2101 attattttcc agaggttctc ctccagacaa gacctgcagt aagcaaagag ttatattcta
2161 cctctctctc aattttcttt ttcttttctc tgtatcctca tccttagcca cacacagatt
2221 tgtgtggctt ttattgtaga actaaactta gcatagtgtt ctgttgttta catgaagtgt
2281 gtttttcttt ggtttcttct gttttccaac taaatatttt tttctaaata aatattttca
2341 acaattgatt tgaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aa
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