LOCUS AF537130 4994 bp mRNA linear HUM 16-DEC-2002
DEFINITION Homo sapiens nephronophthisis 4 (NPHP4) mRNA, complete cds.
ACCESSION AF537130
VERSION AF537130.1
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 4994)
AUTHORS Otto,E., Hoefele,J., Ruf,R., Mueller,A.M., Hiller,K.S., Wolf,M.T.,
Schuermann,M.J., Becker,A., Birkenhager,R., Sudbrak,R.,
Hennies,H.C., Nurnberg,P. and Hildebrandt,F.
TITLE A gene mutated in nephronophthisis and retinitis pigmentosa encodes
a novel protein, nephroretinin, conserved in evolution
JOURNAL Am. J. Hum. Genet. 71 (5), 1161-1167 (2002)
PUBMED 12205563
REMARK Erratum in Am. J. Hum. Genet. 71 (6), 1489 (2002)
REFERENCE 2 (bases 1 to 4994)
AUTHORS Otto,E.A., Hoefele,J., Ruf,R., Mueller,A.M., Hiller,K.S.,
Wolf,M.T., Schuermann,M.J., Becker,A., Birkenhaeger,R.,
Sudbrack,R., Hennies,H.C., Nuernberg,P. and Hildebrandt,F.
TITLE Direct Submission
JOURNAL Submitted (09-AUG-2002) Pediatrics, University of Michigan, 1150
West Medical Center Drive, Ann Arbor, MI 48109, USA
FEATURES Location/Qualifiers
source 1..4994
/db_xref="H-InvDB:HIT000081438"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p36"
/tissue_type="kidney"
/dev_stage="adult"
gene 1..4994
/gene="NPHP4"
CDS 267..4547
/gene="NPHP4"
/note="nephroretinin"
/codon_start=1
/product="nephronophthisis 4"
/protein_id="AAN06814.1"
/translation="MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIR
QGVLEVLSEVECHLRVSFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLN
HPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPR
ALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLL
PAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLD
GGALEILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGS
QALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWA
VWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLG
SEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLA
ASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAE
QLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATE
PVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPR
LQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFAR
YLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVV
SGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCSTLPPSRSRVISNDGAS
RFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDATRRR
KLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLS
LAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAA
GLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGM
DAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPELSFLKK
AIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVASGPSP
EIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVR
AFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWL
VCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDS
FQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ"
BASE COUNT 956 a 1548 c 1467 g 1023 t
ORIGIN
1 gacgcgaggc gggttcttgg actgagtgtg cggcgcggtg cgccgccttc cgaggctcct
61 cccgcgggtg gcagcggacg gggcgcgccc ctcggccagt cctcggtcct caggcttgtg
121 gctccgttga gcaccggccg ccgggcctct gggtccgtcg agtggagact ctctgaaaag
181 cgtgggctcc gtggcctccg gcgcggccgc ggcgggtcgg tctcctagat catccgggaa
241 gcccacggga ccctcaggcg ggcaggatga acgactggca caggatcttc acccaaaacg
301 tgcttgtccc tccccaccca cagagagcgc gccagccttg gaaggaatcc acggcattcc
361 agtgtgtcct caagtggctg gacggaccgg taattaggca gggcgtgctg gaggtactgt
421 cagaggttga atgccatctg cgagtgtctt tctttgatgt cacctaccgg cacttctttg
481 ggaggacgtg gaaaaccaca gtgaagccga cgaagagacc gccgtccagg atcgtcttta
541 atgagccctt gtattttcac acatccctaa accaccctca tatcgtggct gtggtggaag
601 tggtcgctga gggcaagaaa cgggatggga gcctccagac attgtcctgt gggtttggaa
661 ttcttcggat cttcagcaac cagccggact ctcctatctc tgcttcccag gacaaaaggt
721 tgcggctgta ccatggcacc cccagagccc tcctgcaccc gcttctccag gaccccgcag
781 agcaaaacag acacatgacc ctcattgaga actgcagcct gcagtacacg ctgaagccac
841 acccggccct ggagcctgcg ttccaccttc ttcctgagaa ccttctggtg tctggtctgc
901 agcagatacc tggcctgctt ccagctcatg gagaatccgg cgacgctctc cgaaagcctc
961 gcctccagaa gcccatcacg gggcacttgg atgacttatt cttcaccctg tacccctccc
1021 tggagaagtt tgaggaagag ctgctggagc tccacgtcca ggaccacttc caggagggat
1081 gtggcccact ggacggtggt gccctggaga tcctggagcg gcgcctgcgt gtgggcgtgc
1141 acaatggtct gggcttcgtg cagaggccgc aggtcgttgt actggtgcct gagatggatg
1201 tggccttgac gcgctcagct agcttcagca ggaaagtggt ctcctcttcc aagaccagct
1261 ccgggagcca agctctggtt ttgagaagcc gcctccgcct cccagagatg gtcggccacc
1321 ctgcatttgc ggtcatcttc cagctggagt acgtgttcag cagccctgca ggagtggacg
1381 gcaatgcagc ttcggtcacc tctctgtcca acctggcatg catgcacatg gtccgctggg
1441 ctgtttggaa ccccttgctg gaagctgatt ctggaagggt gaccctgcct ctgcagggtg
1501 ggatccagcc caacccctcg cactgtctgg tctacaaggt accctcagcc agcatgagct
1561 ctgaagaggt gaagcaggtg gagtcgggta cactccggtt ccagttctcg ctgggctcag
1621 aagaacacct ggatgcaccc acggagcctg tcagtggccc caaagtggag cggcggcctt
1681 ccaggaaacc acccacgtcc ccttcgagcc cgccagcgcc agtacctcga gttctcgctg
1741 ccccgcagaa ctcacctgtg ggaccagggt tgtcaatttc ccagctggcg gcctccccgc
1801 ggtccccgac tcagcactgc ttggccaggc ctacttcaca gctaccccat ggctctcagg
1861 cctccccggc ccaggcacag gagttcccgt tggaggccgg tatctcccac ctggaagccg
1921 acctgagcca gacctccctg gtcctggaaa catccattgc cgaacagtta caggagctgc
1981 cgttcacgcc tttgcatgcc cctattgttg tgggaaccca gaccaggagc tctgcagggc
2041 agccctcgag agcctccatg gtgctcctgc agtcctccgg ctttcccgag attctggatg
2101 ccaataaaca gccagccgag gctgtcagcg ctacagaacc tgtgacgttt aaccctcaga
2161 aggaagaatc agattgtcta caaagcaacg agatggtgct acagtttctt gcctttagca
2221 gagtggccca ggactgccga ggaacatcat ggccaaagac tgtgtatttc accttccagt
2281 tctaccgctt cccacccgca acgacgccac gactgcagct ggtccagctg gatgaggccg
2341 gccagcccag ctctggcgcc ctgacccaca tcctcgtgcc tgtgagcaga gatggcacct
2401 ttgatgctgg gtctcctggc ttccagctga ggtacatggt gggccctggg ttcctgaagc
2461 caggtgagcg gcgctgcttt gcccgctacc tggccgtgca gaccctgcag attgacgtct
2521 gggacggaga ctccctgctg ctcatcggat ctgctgccgt ccagatgaag catctcctcc
2581 gccaaggccg gccggctgtg caggcctccc acgagcttga ggtcgtggca actgaatacg
2641 agcaggacaa catggtggtg agtggagaca tgctggggtt tggccgcgtc aagcccatcg
2701 gcgtccactc ggtggtgaag ggccggctgc acctgacttt ggccaacgtg ggtcacccgt
2761 gtgaacagaa agtgagaggt tgtagcacat tgccaccgtc cagatctcgg gtcatctcaa
2821 acgatggagc cagccgcttc tctggaggca gcctcctcac gactggaagc tcaaggcgaa
2881 aacacgtggt gcaagcacag aagctggcgg acgtggacag tgagctggct gccatgctac
2941 tgacccatgc ccggcagggc aaggggcccc aggacgtcag ccgcgagtcg gatgccaccc
3001 gcaggcgtaa gctggagcgg atgaggtctg tgcgcctgca ggaggccggg ggagacttgg
3061 gccggcgtgg gacgagcgtg ttggcgcagc agagcgtccg cacacagcac ttgcgggacc
3121 tacaggtcat cgccgcctac cgggaacgca cgaaggccga gagcatcgcc agcctgctga
3181 gcctggccat caccacggag cacacgctcc acgccacgct gggggtcgcc gagttctttg
3241 agtttgtgct taagaacccc cacaacacac agcacacggt gactgtggag atcgacaacc
3301 ccgagctcag cgtcatcgtg gacagtcagg agtggaggga cttcaagggt gctgctggcc
3361 tgcacacacc ggtggaggag gacatgttcc acctgcgtgg cagcctggcc ccccagctct
3421 acctgcgccc ccacgagacc gcccacgtcc ccttcaagtt ccagagcttc tctgcagggc
3481 agctggccat ggtgcaggcc tctcctgggt tgagcaacga gaagggcatg gacgccgtgt
3541 caccttggaa gtccagcgca gtgcccacta aacacgccaa ggtcttgttc cgagcgagtg
3601 gtggcaagcc catcgccgtg ctctgcctga ctgtggagct gcagccccac gtggtggacc
3661 aggtcttccg cttctatcac ccggagctct ccttcctgaa gaaggccatc cgcctgccgc
3721 cctggcacac atttccaggt gctccggtgg gaatgcttgg tgaggacccc ccagtccatg
3781 ttcgctgcag cgacccgaac gtcatctgtg agacccagaa tgtgggcccc ggggaaccac
3841 gggacatatt tctgaaggtg gccagtggtc caagcccgga gatcaaagac ttctttgtca
3901 tcatttactc ggatcgctgg ctggcgacac ccacacagac gtggcaggtc tacctccact
3961 ccctgcagcg cgtggatgtc tcctgcgtcg caggccagct gacccgcctg tcccttgtcc
4021 ttcgggggac acagacagtg aggaaagtga gagctttcac ctctcatccc caggagctga
4081 agacagaccc caaaggtgtc ttcgtgctgc cgcctcgtgg ggtgcaggac ctgcatgttg
4141 gcgtgaggcc ccttagggcc ggcagccgct ttgtccatct caacctggtg gacgtggatt
4201 gccaccagct ggtggcctcc tggctcgtgt gcctctgctg ccgccagccg ctcatctcca
4261 aggcctttga gatcatgttg gctgcgggcg aagggaaggg tgtcaacaag aggatcacct
4321 acaccaaccc ctacccctcc cggaggacat tccacctgca cagcgaccac ccggagctgc
4381 tgcggttcag agaggactcc ttccaggtcg ggggtggaga gacctacacc atcggcttgc
4441 agtttgcgcc tagtcagaga gtgggtgagg aggagatcct gatctacatc aatgaccatg
4501 aggacaaaaa cgaagaggca ttttgcgtga aggtcatcta ccagtgaggg cttgagggtg
4561 acgtccttcc tgcggcaccc agctggggcc tgtctgtgcc cctcctgccc tgcaggctgt
4621 cctccccgcc tctctgcagc ctttcacttc agtgcccacc tggctgacct gtgcacttgg
4681 ctgaggaagc agagaccgag cgctggtcat tttgtagtac ctgcatccag cttagctgct
4741 gctgacaccc agcaggcctg ggttccgtga gcgcgaactc cgtggtggtg ggtctggctc
4801 tggtgctgcc atctacgcat gtgggaccct cgttatcgct gttgctcaaa atgtatttta
4861 tgaatcatcc taaatgagaa aattatgttt ttcttactgg attttgtaca aacataatct
4921 attatttgct atgcaatatt ttatgctggt attatatctg ttttttaaat tgttgaacaa
4981 aatactaaac tttt
//