LOCUS AJ001815 2695 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for NPH1 candidate protein.
ACCESSION AJ001815
VERSION AJ001815.1
KEYWORDS NPH1 gene.
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 2695)
AUTHORS Antignac C.
JOURNAL Submitted (26-SEP-1997) to the INSDC. Antignac, C., U423, INSERM,
Hopital Necker Tour Lavoisier 149 rue de Sevres, 75015 PARIS,
FRANCE.
REFERENCE 2
AUTHORS Saunier S., Calado J., Heilig R., Silbermann F., Benessy F.,
Morin G., Konrad M., Broyer M., Gubler M.C., Weissenbach J.,
Antignac C.
TITLE A novel gene that encodes a protein with a putative src homology 3
domain is a candidate gene for familial juvenile nephronophthisis
JOURNAL Hum. Mol. Genet. 6(13), 2317-2323(1997).
PUBMED 9361039
FEATURES Location/Qualifiers
source 1..2695
/db_xref="H-InvDB:HIT000243896"
/organism="Homo sapiens"
/chromosome="2"
/map="q13"
/mol_type="mRNA"
/dev_stage="foetus"
/tissue_lib="kidney"
/db_xref="taxon:9606"
CDS 34..2232
/codon_start=1
/gene="NPH1"
/db_xref="GOA:O15259"
/db_xref="H-InvDB:HIT000243896.14"
/db_xref="HGNC:HGNC:7905"
/db_xref="InterPro:IPR001452"
/db_xref="InterPro:IPR030642"
/db_xref="InterPro:IPR036028"
/db_xref="InterPro:IPR039687"
/db_xref="PDB:1S1N"
/db_xref="UniProtKB/Swiss-Prot:O15259"
/protein_id="CAA05030.1"
/translation="MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQH
IYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVT
ISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAV
GDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQE
SSEEGSEEDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLM
RNRMETVEDTNGSETGFRAWNVQSRGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPST
LSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIRSRPSRISLILTLWSCKM
IPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLL
DGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTY
ELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSL
LPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMD
ALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETA
RWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV"
exon 34..102
/number=1
exon 103..176
/number=2
exon 177..237
/number=3
exon 238..362
/number=4
exon 363..555
/number=5
exon 556..657
/number=6
exon 658..761
/number=7
exon 762..972
/number=8
exon 973..1057
/number=9
exon 1058..1152
/number=10
exon 1153..1281
/number=11
exon 1282..1356
/number=12
exon 1357..1467
/number=13
exon 1468..1550
/number=14
exon 1551..1627
/number=15
exon 1628..1727
/number=16
exon 1728..1840
/number=17
exon 1841..1914
/number=18
exon 1915..1959
/number=19
exon 1960..2232
/number=20
BASE COUNT 886 a 506 c 597 g 706 t
ORIGIN
1 aactggagca atcagagcac cgcagccagg gagatgctgg cgagacgaca gcgagatcct
61 ctccaggccc tgcggcgccg caatcaggag ctgaagcaac aggttgatag tttgctttct
121 gagagccaac tgaaagaagc tctagaaccc aataaaagac aacatattta tcaaagatgt
181 atccagttaa agcaggcaat agatgaaaat aaaaatgctc ttcaaaaatt aagcaaagct
241 gatgaatctg cacctgttgc aaactataat cagagaaaag aagaggagca tactcttttg
301 gacaagctta cccaacaact gcagggcctt gctgtgacaa taagcagaga aaatataact
361 gaagttgggg cacctactga agaagaggaa gaaagtgaaa gtgaagatag tgaagacagt
421 ggtggggagg aagaagatgc agaggaggaa gaggaagaga aagaggaaaa tgaatctcac
481 aaatggtcaa ccggtgaaga atacatcgct gttggagatt ttactgctca gcaagttgga
541 gatcttacat ttaagaaagg ggaaattctc cttgtaattg aaaaaaaacc tgatggttgg
601 tggatagcta aggatgccaa aggaaatgaa ggtcttgttc ccagaaccta cctagagcct
661 tatagtgaag aagaagaagg ccaagaatca agtgaagagg gcagtgaaga agatgtagag
721 gcggtggatg aaacagcaga tggagcagaa gttaagcaaa gaactgatcc ccactggagt
781 gctgttcaga aagcgatttc agaggcgggc atcttctgtc ttgttaatca tgtctcgttt
841 tgctacctaa tagttctgat gcgaaatagg atggagactg tggaagacac caatggatct
901 gaaacagggt tcagggcatg gaatgtacag agcagaggac gtatatttct ggtttctaag
961 cctgtgctcc aaataaacac tgttgatgtg ttaactacga tgggagctat tcctgcaggg
1021 ttcaggcctt ccacgctctc acagcttctg gaggaaggga atcaatttcg agcaaattac
1081 ttcttacaac cagagctcat gccttcacaa ctggccttca gagatctgat gtgggatgct
1141 acagaaggca ctattaggtc gagaccaagt cgtatttcat tgattctgac attatggagc
1201 tgtaaaatga ttcctcttcc aggaatgagc atacaggttc tcagcagaca tgtacgcctc
1261 tgtctatttg atggtaataa ggttctgagc aacattcata cagtcagagc cacatggcaa
1321 cctaaaaagc ccaaaacatg gaccttttct ccccaggtta ctcgcatctt accatgtttg
1381 cttgatggtg attgctttat caggtctaat tctgcatctc cagatcttgg aatattattt
1441 gaacttggaa tttcttatat tcgcaattca actggtgaaa gaggagagtt aagctgtggc
1501 tgggtgtttc ttaaactttt tgatgccagt ggagttccta ttccagcaaa aacttatgag
1561 cttttcttga atggtggtac tccttatgaa aaaggtattg aagtggaccc ttcaatatcc
1621 agaagagcac acggcagtgt tttctaccag attatgacaa tgagaaggca gcctcaactt
1681 ctagtgaaac tgagatcctt gaacagaaga tcaagaaatg tactaagtct actgccagaa
1741 acattaattg gaaatatgtg ttctattcac ttgttgatat tttatcgaca aattcttgga
1801 gatgtgctcc tgaaagacag gatgagcttg caaagtactg atttaattag ccatcccatg
1861 ctggccacct tccccatgct cttggagcag cctgatgtga tggatgctct caggagttcg
1921 tgggctggaa aagaaagcac attaaaaaga tcagagaaga gagacaaaga gttcctgaag
1981 tccacgtttc tcctggttta ccatgactgc gtgctcccac ttctccactc cacacgccta
2041 cccccattca ggtgggcaga agaagagact gagactgcac ggtggaaagt tatcactgac
2101 ttccttaagc aaaaccaaga aaaccagggc gccctccaag ctctgctgtc accagacgga
2161 gttcatgaac cttttgacct ttcagagcag acctatgact tcttgggtga aatgagaaag
2221 aatgcagtgt gacagtggca gcctctagcc ctcagcttcc cacggaatca gatggatcct
2281 ccacgattac gtgaataaaa tgatggaacc caaaaatcac tgtcacttta caacttaggt
2341 tttactcttt tctttctaca gaccatattt ttaaagaaat gtttatacaa taatttaaat
2401 attttttaaa accataaaat aaatttttat aaggaatact gttatatcta aatttaaaca
2461 gtatttattt tttcaaaaac agctacttaa gttaatggta tagatttcta taaaagcaag
2521 attttgtcaa aaactaaatt tatgattatt caagaaagtg aaaaaaacaa cctacagaat
2581 gggaaaacat atttgcaaat catctaactg ataaaggtct agtatccaaa atatttaaat
2641 ttatgagtgt taataaaatt tatcttgttc aatgaagagg aagttaaaaa aaaaa
//