LOCUS AJ279254 1853 bp mRNA linear HUM 07-OCT-2008
DEFINITION Homo sapiens mRNA for podocin (NPHS2 gene).
ACCESSION AJ279254
VERSION AJ279254.1
KEYWORDS NPHS2 gene; podocin.
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 1853)
AUTHORS Antignac C.
JOURNAL Submitted (22-DEC-1999) to the INSDC. Antignac C., U423, Inserm,
Tour Lavoisier Hopital Necker 149 rue de Sevres, 75015 Paris,
FRANCE.
REFERENCE 2
AUTHORS Boute N., Gribouval O., Roselli S., Benessy F., Lee H.J.,
Fuchshuber A., Dahan K., Gubler M.C., Niaudet P., Antignac C.
TITLE NPHS2, encoding the glomerular protein podocin, is mutated in
autosomal recessive steroid-resistant nephrotic syndrome
JOURNAL Nat Genet 24(4), 349-354(2000).
PUBMED 10742096
FEATURES Location/Qualifiers
source 1..1853
/db_xref="H-InvDB:HIT000246492"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
CDS 70..1221
/gene="NPHS2"
/product="podocin"
/db_xref="GOA:Q9NP85"
/db_xref="H-InvDB:HIT000246492.14"
/db_xref="HGNC:HGNC:13394"
/db_xref="InterPro:IPR001107"
/db_xref="InterPro:IPR001972"
/db_xref="InterPro:IPR018080"
/db_xref="InterPro:IPR036013"
/db_xref="UniProtKB/Swiss-Prot:Q9NP85"
/protein_id="CAB83216.1"
/translation="MERRARSSSRESRGRGGRTPHKENKRAKAERSGGGRGRQEAGPE
PSGSGRAGTPGEPRAPAATVVDVDEVRGSGEEGTEVVALLESERPEEGTKSSGLGACE
WLLVLISLLFIIMTFPFSIWFCVKVVQEYERVIIFRLGHLLPGRAKGPGLFFFLPCLD
TYHKVDLRLQTLEIPFHEIVTKDMFIMEIDAICYYRMENASLLLSSLAHVSKAVQFLV
QTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWGIKVERIEIKDVRLPAGLQH
SLAVEAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTPAAVQLRYLHTLQSLSTEK
PSTVVLPLPFDLLNCLSSPSNRTQGSLPFPSPSKPVEPLNPKKKDSPML"
BASE COUNT 448 a 485 c 468 g 452 t
ORIGIN
1 cacagggact gcgctccctt gcccctagcg ctcccgcgct gctgctccag ccgcccggca
61 gctctgagga tggagaggag ggcgcggagc tcctccaggg agtcccgcgg gcgaggcggc
121 aggactccgc acaaggagaa caagagggca aaggccgaga ggagcggcgg gggccgcggg
181 cgccaggagg ctgggcccga gccgtcgggc tccggacggg cggggacccc gggggagccc
241 cgagcgcccg ccgccacggt ggtggacgtg gatgaggtcc gaggctccgg cgaggagggc
301 accgaggtgg tggcgctgtt ggagagcgag cggcccgagg aaggtaccaa atcctccggc
361 ttaggggcct gtgagtggct tcttgtcctc atttccctgc tcttcatcat catgaccttc
421 cctttttcca tctggttctg cgtaaaggtt gtacaagagt atgaaagagt aattatattc
481 cgactgggac atctgcttcc tggaagagcc aaaggccctg gtcttttctt ttttttgccc
541 tgcctggata cctaccacaa ggttgacctt cgtctccaaa ctctggagat accttttcat
601 gagatcgtga ccaaagacat gtttataatg gagatagatg ccatttgcta ctaccgaatg
661 gaaaatgcct ctcttctcct aagcagtctt gctcatgtat ctaaagctgt gcaattcctt
721 gtgcaaacca ctatgaagcg tctcctagca catcgatccc tcactgaaat tcttctagag
781 aggaagagca tcgcccaaga tgcaaaggtt gccttggatt cagtgacctg tatttgggga
841 atcaaagtgg agagaataga aattaaagat gtgaggttgc cagctgggct tcagcactca
901 ctggctgtgg aggctgaagc gcaaagacaa gccaaagtgc ggatgattgc tgcagaagcg
961 gaaaaggctg cttctgagtc cctgaggatg gcagctgaga ttctgtcagg cacccctgct
1021 gctgttcagc ttcgatacct ccacaccctt cagtctctgt ccacagagaa gccttccact
1081 gtggttttac ctttgccatt tgacctactg aattgcctgt cttctcccag caacagaact
1141 cagggaagcc tccccttccc aagtccttcc aaacctgttg agccactaaa tcctaaaaag
1201 aaagactctc ccatgttata ggaaggatgg ggcataatgt gactgtaaag gggcctgcca
1261 tagaaaagtc acatccctga gggagacact ctgtcctcat tccctgccct tcctttggtt
1321 gccatatgga atggccatgg aatgcacgaa gtcacaatgc accatccatg agaagacagt
1381 gaaatgatgt aatgacagag aaggcagaca acatgtttcc gtgactcatc tagtcagagc
1441 aattatggga aacagctttg gtcaacattc tactttggaa agaattttga gtctagatgt
1501 ggttaaattt tgacttctgg gaacttggtt cagatgtccc tttcactgta tgtcctctga
1561 cccctttggc aaggttgcca cagctcccac agcccttcct acaagcacct atcattgggc
1621 ttgtcacact ctattgctct tctgtcccga agatgcagtc ttctctccaa tgatactacc
1681 aagtcttagt tttcctcaac cacactcaat ctttttgctc caccctgaat tcctcacacc
1741 taaccctgat agttacctaa agtgacactt aaatgtttca gagtgaatgc aaaaaagaga
1801 gatgtacttg gagtcggata tacaatttat ccctaattaa agcatttaaa agg
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