LOCUS AF023674 3677 bp mRNA linear HUM 24-JUL-2016
DEFINITION Homo sapiens nephrocystin (NPHP1) mRNA, partial cds.
ACCESSION AF023674
VERSION AF023674.1
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 3677)
AUTHORS Hildebrandt,F., Otto,E., Rensing,C., Nothwang,H.G., Vollmer,M.,
Adolphs,J., Hanusch,H. and Brandis,M.
TITLE A novel gene encoding an SH3 domain protein is mutated in
nephronophthisis type 1
JOURNAL Nat. Genet. 17 (2), 149-153 (1997)
PUBMED 9326933
REFERENCE 2 (bases 1 to 3677)
AUTHORS Hildebrandt,F., Otto,E., Rensing,C., Nothwang,H.G., Vollmer,M.,
Adolphs,J., Hanusch,H. and Brandis,M.
TITLE Direct Submission
JOURNAL Submitted (04-AUG-1997) University Children's Hospital, Freiburg
University, Mathildenstrasse 1, Freiburg D-79106, Germany
FEATURES Location/Qualifiers
source 1..3677
/db_xref="H-InvDB:HIT000062720"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q13"
gene <1..>3677
/gene="NPHP1"
CDS <1..2197
/gene="NPHP1"
/note="mutated in juvenile nephronophthisis 1"
/codon_start=2
/product="nephrocystin"
/protein_id="AAC51771.1"
/translation="ARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIY
QRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTIS
RENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGD
FTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESS
EEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRN
RMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQQINTVDVLTTMGAIPAGFRPSTL
SQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKMI
PLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLLD
GDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYE
LFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLL
PETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDA
LRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETAR
WKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV"
exon <1..64
/gene="NPHP1"
/number=1
exon 65..138
/gene="NPHP1"
/number=2
exon 139..199
/gene="NPHP1"
/number=3
exon 200..324
/gene="NPHP1"
/number=4
exon 325..517
/gene="NPHP1"
/number=5
exon 518..619
/gene="NPHP1"
/number=6
exon 620..723
/gene="NPHP1"
/number=7
exon 724..934
/gene="NPHP1"
/number=8
exon 935..1022
/gene="NPHP1"
/number=9
exon 1023..1117
/gene="NPHP1"
/number=10
exon 1118..1246
/gene="NPHP1"
/number=11
exon 1247..1322
/gene="NPHP1"
/number=12
exon 1323..1432
/gene="NPHP1"
/number=13
exon 1433..1515
/gene="NPHP1"
/number=14
exon 1516..1592
/gene="NPHP1"
/number=15
exon 1593..1692
/gene="NPHP1"
/number=16
exon 1693..1799
/gene="NPHP1"
/number=17
exon 1800..1879
/gene="NPHP1"
/number=18
exon 1880..1924
/gene="NPHP1"
/number=19
exon 1925..>3677
/gene="NPHP1"
/number=20
BASE COUNT 1182 a 703 c 804 g 988 t
ORIGIN
1 ggcgagacga cagcgagatc ctctccaggc cctgcggcgc cgcaatcagg agctgaagca
61 acaggttgat agtttgcttt ctgagagcca actgaaagaa gctctagaac ccaataaaag
121 acaacatatt tatcaaagat gtatccagtt aaagcaggca atagatgaaa ataaaaatgc
181 tcttcaaaaa ttaagcaaag ctgatgaatc tgcacctgtt gcaaactata atcagagaaa
241 agaagaggag catactcttt tggacaagct tacccaacaa ctgcagggcc ttgctgtgac
301 aataagcaga gaaaatataa ctgaagttgg ggcacctact gaagaagagg aagaaagtga
361 aagtgaagat agtgaagaca gtggtgggga ggaagaagat gcagaggagg aagaggaaga
421 gaaagaggaa aatgaatctc acaaatggtc aaccggtgaa gaatacatcg ctgttggaga
481 ttttactgct cagcaagttg gagatcttac atttaagaaa ggggaaattc tccttgtaat
541 tgaaaaaaaa cctgatggtt ggtggatagc taaggatgcc aaaggaaatg aaggtcttgt
601 tcccagaacc tacctagagc cttatagtga agaagaagaa ggccaagaat caagtgaaga
661 gggcagtgaa gaagatgtag aggcggtgga tgaaacagca gatggagcag aagttaagca
721 aagaactgat ccccactgga gtgctgttca gaaagcgatt tcagaggcgg gcatcttctg
781 tcttgttaat catgtctcgt tttgctacct aatagttctg atgcgaaata ggatggagac
841 tgtggaagac accaatggat ctgaaacagg gttcagggca tggaatgtac agagcagagg
901 acgtatattt ctggtttcta agcctgtgct ccaacagata aacactgttg atgtgttaac
961 tacgatggga gctattcctg cagggttcag gccttccacg ctctcacagc ttctggagga
1021 agggaatcaa tttcgagcaa attacttctt acaaccagag ctcatgcctt cacaactggc
1081 cttcagagat ctgatgtggg atgctacaga aggcactatt aggtcgagac caagtcgtat
1141 ttcattgatt ctgacattat ggagctgtaa aatgattcct cttccaggaa tgagcataca
1201 ggttctcagc agacatgtac gcctctgtct atttgatggt aataaggttc tgagcaacat
1261 tcatacagtc agagccacat ggcaacctaa aaagcccaaa acatggacct tttctcccca
1321 ggttactcgc atcttaccat gtttgcttga tggtgattgc tttatcaggt ctaattctgc
1381 atctccagat cttggaatat tatttgaact tggaatttct tatattcgca attcaactgg
1441 tgaaagagga gagttaagct gtggctgggt gtttcttaaa ctttttgatg ccagtggagt
1501 tcctattcca gcaaaaactt atgagctttt cttgaatggt ggtactcctt atgaaaaagg
1561 tattgaagtg gacccttcaa tatccagaag agcacacggc agtgttttct accagattat
1621 gacaatgaga aggcagcctc aacttctagt gaaactgaga tccttgaaca gaagatcaag
1681 aaatgtacta agtctactgc cagaaacatt aattggaaat atgtgttcta ttcacttgtt
1741 gatattttat cgacaaattc ttggagatgt gctcctgaaa gacaggatga gcttgcaaag
1801 tactgattta attagccatc ccatgctggc caccttcccc atgctcttgg agcagcctga
1861 tgtgatggat gctctcagga gttcgtgggc tggaaaagaa agcacattaa aaagatcaga
1921 gaagagagac aaagagttcc tgaagtccac gtttctcctg gtttaccatg actgcgtgct
1981 cccacttctc cactccacac gcctaccccc attcaggtgg gcagaagaag agactgagac
2041 tgcacggtgg aaagttatca ctgacttcct taagcaaaac caagaaaacc agggcgccct
2101 ccaagctctg ctgtcaccag acggagttca tgaacctttt gacctttcag agcagaccta
2161 tgacttcttg ggtgaaatga gaaagaatgc agtgtgacag tggcagcctc tagccctcag
2221 cttcccacgg aatcagatgg atcctccacg attacgtgaa taaaatgatg gaaccaaaaa
2281 tcactgtcac tttacaactt aggttttact cttttctttc tacagaccat atttttaaag
2341 aaatgtttat acaataattt aaatattttt taaaaccata aaataaattt ttataaggaa
2401 tactgttata tctaaattta aacagtattt attttttcaa aaacagctac ttaagttaat
2461 ggtatagatt tctataaaag caagattttg tcaaaaacta aatttatgat tattcaagaa
2521 agtgaaaaaa acaacctaca gaatgggaaa acatatttgc aaatcatcta actgataaag
2581 gtctagtatc caaaatattt aaatttatga gtgttaataa aatttatctt gttcaatgaa
2641 gaggaagtta aagtgatcca tttgagaaag ttgtatcact taattcagtc tgatacttga
2701 atgtgattta cccctaatta agtacaaaaa cagagtcgct tttgcctttt caaatcaaga
2761 aaataagtgc tctgtcaaaa gcacaaaaag aaactttcag gcactggaga gtggagtcga
2821 ctcacccttt caggccttgt tgcatctcag ataaacctgt gactgctggt aaaataatgt
2881 cccaagcctt tccttttagt gataaacagt agcagcctgc gttaattgag cacctactgt
2941 gtgtctgagc atttctcatt agcccagtta atcctcacac ctactgtagg agataggtac
3001 tgttgttttt tattaccgcc gaagaaacag gccagataag tgaagtaatt tgcctaaggt
3061 cacagctaat aagtggcaca gctaatattc ccagtaaaga taccatgtat aattttctac
3121 aacctaagat gttctgcctt atcggggcga accttttagg attccatgtg aaaataaaat
3181 atgaggaaaa gtttaaccta aataattaga atcccattag aggtactttt ttttgatggc
3241 atgctgcctt aaaagagcca tttattttta gagatctgtc atattatgaa agttctgggc
3301 tatcttagct aacttatcct aaacccttaa cctaaattta acttgagccc cagtctcaga
3361 aattaacatg gtatgaaagt gtttccaggc caggcgcggt ggctcacgcc tgtaatccca
3421 acactttggg aggccgaggt gggtggatca cctgaggtca ggagtttgag accagcctgg
3481 ccaacactat ctgtactaaa aacacaaaat tagctgggtg tggtagtgcg tgcctgtgat
3541 cccagctact tgggaggctg aggtagaaga attgtttgaa cctgggaggt ggaggttgca
3601 gtgagccaag atcgtgccat tgcactccag cctaggcaac aagagtgaaa ctccatctca
3661 aaaaaaaaaa aaaaaaa
//