LOCUS AY118228 4939 bp mRNA linear HUM 25-SEP-2002
DEFINITION Homo sapiens nephrocystin-4 (NPHP4) mRNA, complete cds.
ACCESSION AY118228
VERSION AY118228.1
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 4939)
AUTHORS Mollet,G., Salomon,R., Gribouval,O., Silberman,F., Bacq,D.,
Landthaler,G., Milford,D., Nayir,A., Rizzoni,G., Antignac,C. and
Saunier,S.
TITLE The gene mutated in juvenile nephronophthisis type 4 encodes a
novel protein that interacts with nephrocystin
JOURNAL Nat. Genet. 32 (2), 300-305 (2002)
PUBMED 12244321
REMARK Erratum:[Nat Genet 2002 Nov;32(3):459]
REFERENCE 2 (bases 1 to 4939)
AUTHORS Antignac,C.
TITLE Direct Submission
JOURNAL Submitted (05-JUN-2002) Inserm U423, Hopital Necker, 149 rue de
Sevres, Paris 75015, France
FEATURES Location/Qualifiers
source 1..4939
/db_xref="H-InvDB:HIT000084493"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p36"
gene 1..4939
/gene="NPHP4"
CDS 204..4484
/gene="NPHP4"
/codon_start=1
/product="nephrocystin-4"
/protein_id="AAM78558.1"
/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 953 a 1529 c 1443 g 1014 t
ORIGIN
1 gcgggtggca gcggacgggg cgcgcccctc ggccagtcct cggtcctcag gcttgtggct
61 ccgttgagca ccggccgccg ggcctctggg tccgtcgagt ggagactctc tgaaaagcgt
121 gggctccgtg gcctccggcg cggccgcggc gggtcggtct cctagatcat ccgggaagcc
181 cacgggaccc tcaggcgggc aggatgaacg actggcacag gattttcacc caaaacgtgc
241 ttgtccctcc ccacccacag agagcgcgcc agccttggaa ggaatccacg gcattccagt
301 gtgtcctcaa gtggctggac ggaccggtaa ttaggcaggg cgtgctggag gtactgtcag
361 aggttgaatg ccatctgcga gtgtctttct ttgatgtcac ctaccggcac ttctttggga
421 ggacgtggaa aaccacagtg aagccgacga agagaccgcc gtccaggatc gtctttaatg
481 agcccttgta ttttcacaca tccctaaacc accctcatat cgtggctgtg gtggaagtgg
541 tcgctgaggg caagaaacgg gatgggagcc tccagacatt gtcctgtggg tttggaattc
601 ttcggatctt cagcaaccag ccggactctc ctatctctgc ttcccaggac aaaaggttgc
661 ggctgtacca tggcaccccc agagccctcc tgcacccgct tctccaggac cccgcagagc
721 aaaacagaca catgaccctc attgagaact gcagcctgca gtacacgctg aagccacacc
781 cggccctgga gcctgcgttc caccttcttc ctgagaacct tctggtgtct ggtctgcagc
841 agatacctgg cctgcttcca gctcatggag aatccggcga cgctctccga aagcctcgcc
901 tccagaagcc catcacgggg cacttggatg acttattctt caccctgtac ccctccctgg
961 agaagtttga ggaagagctg ctggagctcc acgtccagga ccacttccag gagggatgtg
1021 gcccactgga cggtggtgcc ctggagatcc tggagcggcg cctgcgtgtg ggcgtgcaca
1081 atggtctggg cttcgtgcag aggccgcagg tcgttgtact ggtgcctgag atggatgtgg
1141 ccttgacgcg ctcagctagc ttcagcagga aagtggtctc ctcttccaag accagctccg
1201 ggagccaagc tctggttttg agaagccgcc tccgcctccc agagatggtc ggccaccctg
1261 catttgcggt catcttccag ctggagtacg tgttcagcag ccctgcagga gtggacggca
1321 atgcagcttc ggtcacctct ctgtccaacc tggcatgcat gcacatggtc cgctgggctg
1381 tttggaaccc cttgctggaa gctgattctg gaagggtgac cctgcctctg cagggtggga
1441 tccagcccaa cccctcgcac tgtctggtct acaaggtacc ctcagccagc atgagctctg
1501 aagaggtgaa gcaggtggag tcgggtacac tccggttcca gttctcgctg ggctcagaag
1561 aacacctgga tgcacccacg gagcctgtca gtggccccaa agtggagcgg cggccttcca
1621 ggaaaccacc cacgtcccct tcgagcccgc cagcgccagt acctcgagtt ctcgctgccc
1681 cgcagaactc acctgtggga ccagggttgt caatttccca gctggcggcc tccccgcggt
1741 ccccgactca gcactgcttg gccaggccta cttcacagct accccatggc tctcaggcct
1801 ccccggccca ggcacaggag ttcccgttgg aggccggtat ctcccacctg gaagccgacc
1861 tgagccagac ctccctggtc ctggaaacat ccattgccga acagttacag gagctgccgt
1921 tcacgccttt gcatgcccct attgttgtgg gaacccagac caggagctct gcagggcagc
1981 cctcgagagc ctccatggtg ctcctgcagt cctccggctt tcccgagatt ctggatgcca
2041 ataaacagcc agccgaggct gtcagcgcta cagaacctgt gacgtttaac cctcagaagg
2101 aagaatcaga ttgtctacaa agcaacgaga tggtgctaca gtttcttgcc tttagcagag
2161 tggcccagga ctgccgagga acatcatggc caaagactgt gtatttcacc ttccagttct
2221 accgcttccc acccgcaacg acgccacgac tgcagctggt ccagctggat gaggccggcc
2281 agcccagctc tggcgccctg acccacatcc tcgtgcctgt gagcagagat ggcacctttg
2341 atgctgggtc tcctggcttc cagctgaggt acatggtggg ccctgggttc ctgaagccag
2401 gtgagcggcg ctgctttgcc cgctacctgg ccgtgcagac cctgcagatt gacgtctggg
2461 acggagactc cctgctgctc atcggatctg ctgccgtcca gatgaagcat ctcctccgcc
2521 aaggccggcc ggctgtgcag gcctcccacg agcttgaggt cgtggcaact gaatacgagc
2581 aggacaacat ggtggtgagt ggagacatgc tggggtttgg ccgcgtcaag cccatcggcg
2641 tccactcggt ggtgaagggc cggctgcacc tgactttggc caacgtgggt cacccgtgtg
2701 aacagaaagt gagaggttgt agcacattgc caccgtccag atctcgggtc atctcaaacg
2761 atggagccag ccgcttctct ggaggcagcc tcctcacgac tggaagctca aggcgaaaac
2821 acgtggtgca agcacagaag ctggcggacg tggacagtga gctggctgcc atgctactga
2881 cccatgcccg gcagggcaag gggccccagg acgtcagccg cgagtcggat gccacccgca
2941 ggcgtaagct ggagcggatg aggtctgtgc gcctgcagga ggccggggga gacttgggcc
3001 ggcgtgggac gagcgtgttg gcgcagcaga gcgtccgcac acagcacttg cgggacctac
3061 aggtcatcgc cgcctaccgg gaacgcacga aggccgagag catcgccagc ctgctgagcc
3121 tggccatcac cacggagcac acgctccacg ccacgctggg ggtcgccgag ttctttgagt
3181 ttgtgcttaa gaacccccac aacacacagc acacggtgac tgtggagatc gacaaccccg
3241 agctcagcgt catcgtggac agtcaggagt ggagggactt caagggtgct gctggcctgc
3301 acacaccggt ggaggaggac atgttccacc tgcgtggcag cctggccccc cagctctacc
3361 tgcgccccca cgagaccgcc cacgtcccct tcaagttcca gagcttctct gcagggcagc
3421 tggccatggt gcaggcctct cctgggttga gcaacgagaa gggcatggac gccgtgtcac
3481 cttggaagtc cagcgcagtg cccactaaac acgccaaggt cttgttccga gcgagtggtg
3541 gcaagcccat cgccgtgctc tgcctgactg tggagctgca gccccacgtg gtggaccagg
3601 tcttccgctt ctatcacccg gagctctcct tcctgaagaa ggccatccgc ctgccgccct
3661 ggcacacatt tccaggtgct ccggtgggaa tgcttggtga ggacccccca gtccatgttc
3721 gctgcagcga cccgaacgtc atctgtgaga cccagaatgt gggccccggg gaaccacggg
3781 acatatttct gaaggtggcc agtggtccaa gcccggagat caaagacttc tttgtcatca
3841 tttactcgga tcgctggctg gcgacaccca cacagacgtg gcaggtctac ctccactccc
3901 tgcagcgcgt ggatgtctcc tgcgtcgcag gccagctgac ccgcctgtcc cttgtccttc
3961 gggggacaca gacagtgagg aaagtgagag ctttcacctc tcatccccag gagctgaaga
4021 cagaccccaa aggtgtcttc gtgctgccgc ctcgtggggt gcaggacctg catgttggcg
4081 tgaggcccct tagggccggc agccgctttg tccatctcaa cctggtggac gtggattgcc
4141 accagctggt ggcctcctgg ctcgtgtgcc tctgctgccg ccagccgctc atctccaagg
4201 cctttgagat catgttggct gcgggcgaag ggaagggtgt caacaagagg atcacctaca
4261 ccaaccccta cccctcccgg aggacattcc acctgcacag cgaccacccg gagctgctgc
4321 ggttcagaga ggactccttc caggtcgggg gtggagagac ctacaccatc ggcttgcagt
4381 ttgcgcctag tcagagagtg ggtgaggagg agatcctgat ctacatcaat gaccatgagg
4441 acaaaaacga agaggcattt tgcgtgaagg tcatctacca gtgagggctt gagggtgacg
4501 tccttcctgc ggcacccagc tggggcctgt ctgtgcccct cctgccctgc aggctgtcct
4561 ccccgcctct ctgcagcctt tcacttcagt gcccacctgg ctgacctgtg cacttggctg
4621 aggaagcaga gaccgagcgc tggtcatttt gtagtacctg catccagctt agctgctgct
4681 gacacccagc aggcctgggt tccgtgagcg cgaactccgt ggtggtgggt ctggctctgg
4741 tgctgccatc tacgcatgtg ggaccctcgt tatcgctgtt gctcaaaatg tattttatga
4801 atcatcctaa atgagaaaat tatgtttttc ttactggatt ttgtacaaac ataatctatt
4861 atttgctatg caatatttta tgctggtatt atatctgttt tttaaattgt tgaacaaaat
4921 actaaacttt tacacgtct
//