LOCUS AF035835 4285 bp mRNA linear HUM 07-APR-1998
DEFINITION Homo sapiens nephrin (NPHS1) mRNA, complete cds.
ACCESSION AF035835
VERSION AF035835.1
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 4285)
AUTHORS Kestila,M., Lenkkeri,U., Mannikko,M., Lamerdin,J., McCready,P.,
Putaala,H., Ruotsalainen,V., Morita,T., Nissinen,M., Herva,R.,
Kashtan,C.E., Peltonen,L., Holmberg,C., Olsen,A. and Tryggvason,K.
TITLE Positionally cloned gene for a novel glomerular
protein--nephrin--is mutated in congenital nephrotic syndrome
JOURNAL Mol. Cell 1 (4), 575-582 (1998)
PUBMED 9660941
REFERENCE 2 (bases 1 to 4285)
AUTHORS Lenkkeri,U., Kestila,M., Mannikko,M., Lamerdin,J., McCready,P.,
Putaala,H., Ruotsalainen,V., Morita,T., Nissinen,M., Herva,R.,
Kashtan,C.E., Peltonen,L., Holmberg,C., Olsen,A. and Tryggvason,K.
TITLE Direct Submission
JOURNAL Submitted (26-NOV-1997) Biochemistry, University of Oulu,
Linnanmaa, Oulu 90570, Finland
FEATURES Location/Qualifiers
source 1..4285
/db_xref="H-InvDB:HIT000063312"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.1"
gene 1..4285
/gene="NPHS1"
/note="congenital nephrotic syndrome"
CDS 1..3726
/gene="NPHS1"
/codon_start=1
/product="nephrin"
/protein_id="AAC39687.1"
/translation="MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVV
EGASVELRCGVSTPGSAVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACD
LSDDAEYECQVGRSEMGPELVSPRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNC
VSGDAKPAPDITILLSGQTISDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCE
ASSPALEAPIKASFTVNVLFPPGPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATL
QWLKNGQPVSTAWGTEHTQAVARSVLVMTVRPEDHGAQLSCEAHNSVSAGTQEHGITL
QVTFPPSAIIILGSASQTENKNVTLSCVSKSSRPRVLLRWWLGWRQLLPMEETVMDGL
HGGHISMSNLTFLARREDNGLTLTCEAFSEAFTKETFKKSLILNVKYPAQKLWIEGPP
EGQKLRAGTRVRLVCLAIGGNPEPSLMWYKDSRTVTESRLPQESRRVHLGSVEKSGST
FSRELVLVTGPSDNQAKFTCKAGQLSASTQLAVQFPPTNVTILANASALRPGDALNLT
CVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFKGSAAARSVLLQVSSRDHGQRVTCR
AHSAELRETVSSFYRLNVLYRPEFLGEQVLVVTAVEQGEALLPVSVSANPAPEAFNWT
FRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLHCQNSEGTAEARLRLDVHYAP
TIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGEDEEDQSLDDMEKISRGPT
GRLRIHHAKLAQAGAYQCIVDNGVAPPARRLLRLVVRFAPQVEHPTPLTKVAAAGDST
SSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVHSSLLTIANVSAAQD
YALFTCTATNALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLEWKPGFDGGLPQR
FCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALGDSGLADKGTQ
LPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASCVGGVLWQR
RLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYRSLRDFS
PQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGPWDLH
WPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV"
BASE COUNT 886 a 1294 c 1302 g 803 t
ORIGIN
1 atggccctgg ggacgacgct cagggcttct ctcctgctcc tggggctgct gactgaaggc
61 ctggcgcagt tggcgattcc tgcctccgtt ccccggggct tctgggccct gcctgaaaac
121 ctgacggtgg tggagggggc ctcagtggag ctgcgttgtg gggtcagcac ccctggcagt
181 gcggtgcaat gggccaaaga tgggctgctc ctgggccccg accccaggat cccaggcttc
241 ccgaggtacc gcctggaagg ggaccctgct agaggtgaat tccacctgca catcgaggcc
301 tgtgacctca gcgatgacgc ggagtatgag tgccaggtcg gccgctctga gatggggccc
361 gagctcgtgt ctcccagagt gatcctctcc atcctggttc ctcccaagct gctcctgctg
421 accccagagg caggcaccat ggtcacctgg gtagctgggc aggagtacgt ggtcaactgt
481 gtgtctgggg acgcgaagcc agcacctgac atcaccattc tcctgagtgg acagacaata
541 tctgacatct ctgcaaacgt gaacgagggc tcccagcaga aactcttcac tgtggaggcc
601 acagccaggg tgacaccccg gagctcagat aataggcagt tgctggtctg tgaggcgtct
661 agcccagcac tggaggcccc catcaaggcc tcattcaccg tgaatgttct gttccctcca
721 ggaccccctg tcatcgagtg gccaggcctg gatgaggggc acgtgcgggc aggacagagc
781 ttggagctgc cgtgcgtggc ccgagggggt aatcccttag ccacactgca gtggctgaag
841 aatggccagc cggtgtccac agcgtggggc acagagcaca cccaggcggt ggcccgcagt
901 gtgctggtga tgaccgtgag gccagaagac catggagcgc agctcagctg cgaggcccac
961 aacagcgtgt ctgcagggac ccaggagcac ggcatcacac tgcaggtcac ctttccccct
1021 agtgccatta ttatcttggg atctgcatcc cagactgaga acaagaacgt gacactctcc
1081 tgtgtcagca agtccagtcg cccgcgggtt ctgctacgat ggtggctggg ctggcggcag
1141 ctgctgccca tggaggagac agtcatggat ggactgcatg gcggtcacat ctccatgtcc
1201 aacctgacat tcctggcgcg gcgggaggac aacggtctga ccctcacatg tgaggccttc
1261 agtgaagcct tcaccaagga gaccttcaag aagtcgctca tcctgaacgt aaaatatccc
1321 gcccagaaac tgtggattga gggtccccca gagggccaga agctccgggc tgggacccgg
1381 gtgaggctgg tgtgtttggc tatcgggggc aacccagagc cctccctcat gtggtacaag
1441 gactcgcgca ccgtgaccga gtcgcggctg ccgcaggagt cgcggcgcgt gcatctcggc
1501 agcgtggaga aatctgggag caccttctcc cgagagctgg tgctggtcac agggccgtcg
1561 gacaaccagg ccaagttcac gtgcaaggct ggacagctca gcgcgtccac gcagctggcg
1621 gtgcagtttc ccccaactaa cgtgacgatc ctggccaacg catccgcact gcgcccggga
1681 gacgccttaa acttgacatg cgtcagcgtc agcagcaatc cgccggtcaa cttgtcctgg
1741 gacaaggaag gggagaggct ggagggcgtg gccgccccac cccggagagc cccattcaaa
1801 ggctccgccg ccgccaggag cgtccttctg caagtgtcat cccgcgatca tggccagcgc
1861 gtgacctgcc gcgcccacag cgccgagctc cgcgaaaccg tgagctcctt ctatcgcctc
1921 aacgtactgt accgtccaga gttcctgggg gagcaggtgc tggtggtgac cgcggtggag
1981 cagggcgagg cgttgctgcc cgtgtccgtg tccgctaacc ccgcccccga ggccttcaac
2041 tggaccttcc gcggctatcg cctcagtcca gcgggcggcc cccggcatcg catcctgtcc
2101 agcggggctc tgcatctgtg gaatgtgacc cgcgcggacg acggcctcta tcagctgcac
2161 tgccagaact ctgagggcac cgcggaagcg cggctgcggc tggacgtgca ctatgctccc
2221 accatccgtg ccctccagga ccccactgag gtgaacgtcg ggggttctgt ggacatagtc
2281 tgcactgtcg atgccaatcc catcctcccg ggcatgttca actgggagag actgggagaa
2341 gatgaggagg accagagcct ggatgacatg gagaagatat ccaggggacc aacggggcgc
2401 ctgcggattc accatgccaa actggcccag gctggcgctt accagtgcat tgtggacaat
2461 ggggtggcgc ctccagcacg acggctgctc cgtcttgttg tcagatttgc cccccaggtg
2521 gagcacccca ctcccctaac taaggtggct gcagctggag acagcaccag ttctgccacc
2581 ctccactgcc gtgcccgagg tgtccccaac atcgttttca cttggacaaa aaacggggtc
2641 cctctggatc tccaagatcc caggtacacg gagcacacat accaccaggg tggtgtccac
2701 agcagcctcc tgaccattgc caacgtgtct gccgcccagg attacgccct cttcacatgt
2761 acagccacca acgcccttgg ctcggaccaa accaacattc aacttgtcag catcagccgc
2821 cctgaccctc catcaggatt aaaggttgtg agtctgaccc cacactccgt ggggctggag
2881 tggaagcctg gctttgatgg gggcctgcca cagaggttct gcatcaggta tgaggccctg
2941 gggactccag ggttccacta tgtggatgtc gtaccacccc aggccaccac cttcacgctg
3001 actggtctac agccttctac aagatacagg gtctggctgc tggccagtaa tgccttgggg
3061 gacagtggac tggctgacaa agggacccag cttcccatca ctaccccagg tctccaccag
3121 ccttctggag aacctgaaga ccagctgccc acagagccac cttcaggacc ctcggggctg
3181 cccctgctgc ctgtgctgtt cgctcttggg gggcttctgc tcctctccaa tgcctcctgt
3241 gtcggggggg tcctctggca gcggagactc aggcgtcttg ctgagggcat ctcagagaag
3301 acagaggcag ggtcggaaga ggaccgagtc aggaacgaat atgaggagag ccagtggaca
3361 ggagagcggg acactcagag ctccacggtc agcacaacag aggcagagcc gtattaccgc
3421 tccctgaggg acttcagccc ccagctgccc ccgacgcagg aggaggtgtc ttattcccga
3481 ggtttcacag gtgaagatga ggatatggcc ttccctgggc acttgtatga tgaggtagaa
3541 agaacgtacc ccccgtctgg agcctgggga cccctctacg atgaagtgca gatgggaccc
3601 tgggacctcc actggcctga agacacatat caggatccaa gaggaatcta tgaccaggtg
3661 gccggagact tggacactct ggaacccgat tctctgccct tcgagctgag gggacatctg
3721 gtgtaagagc cctctcaacc ccattgtcct gcacctgcag gaatttacac tccactggtc
3781 tctctcatta cagcctgggc cgagctggtt aggtgagctc cataaaaccc aaagggactt
3841 ggtgtcagga gaggacatgg agggggctga gtgacagaga tggttcagct ggtaccagag
3901 tagaaacaag gtgcatcctg gggttggctt tagaaactaa acttctccaa aaggacaggg
3961 cagattgtaa acgtcgtctc aaaaatgaaa tgctgccggg tgcggtgact cacgcctata
4021 atcccagcac tttgggaggc tgaggcgggt ggatcacctg aggtcaggag ttcgagacca
4081 gcctggccaa catggtaaaa ctccatttct actaaaaata taaaaaatta gccaggagta
4141 gtggcgcatg cctgtagtcc cagctacttg ggaggctgat gcatgagaat tgcttgaacc
4201 caggaggcgg aggttgcagt gagctgagat cacgccactg cactccagcc tgggcgacag
4261 agcgagattc tgtctcaaaa aataa
//