Entry HUMAN17485 (NPHP1_HUMAN)

E Homo sapiens


General Information

Description
nephrocystin 1 [Source:HGNC Symbol;Acc:HGNC:7905]
Organism
HUMAN - Homo sapiens (Taxon-ID: 9606)
Locus
2join(complement(110204900..110204968), complement(110201421..110201494), complement(110179624..110179684), complement(110178423..110178547), complement(110169806..110169998), complement(110168452..110168553), complement(110165052..110165155), complement(110164520..110164730), complement(110163048..110163135), complement(110161603..110161697), complement(110160127..110160255), complement(110150182..110150256), complement(110147916..110148026), complement(110146753..110146835), complement(110144493..110144569), complement(110143542..110143641), complement(110131679..110131791), complement(110129186..110129259), complement(110125637..110125681), complement(110123791..110124063))
Number of exons
20
Alternative splicing
HUMAN17486
HUMAN17487
HUMAN17488

IDs and Cross-references

loading xrefs...

Domain Architecture

Gene Ontology

loading GO annotations...

Protein Sequence

Download: Fasta
MLARRQRDPL QALRRRNQEL KQQVDSLLSE SQLKEALEPN KRQHIYQRCI QLKQAIDENK    60
NALQKLSKAD ESAPVANYNQ RKEEEHTLLD KLTQQLQGLA VTISRENITE VGAPTEEEEE   120
SESEDSEDSG GEEEDAEEEE EEKEENESHK WSTGEEYIAV GDFTAQQVGD LTFKKGEILL   180
VIEKKPDGWW IAKDAKGNEG LVPRTYLEPY SEEEEGQESS EEGSEEDVEA VDETADGAEV   240
KQRTDPHWSA VQKAISEAGI FCLVNHVSFC YLIVLMRNRM ETVEDTNGSE TGFRAWNVQS   300
RGRIFLVSKP VLQQINTVDV LTTMGAIPAG FRPSTLSQLL EEGNQFRANY FLQPELMPSQ   360
LAFRDLMWDA TEGTIRSRPS RISLILTLWS CKMIPLPGMS IQVLSRHVRL CLFDGNKVLS   420
NIHTVRATWQ PKKPKTWTFS PQVTRILPCL LDGDCFIRSN SASPDLGILF ELGISYIRNS   480
TGERGELSCG WVFLKLFDAS GVPIPAKTYE LFLNGGTPYE KGIEVDPSIS RRAHGSVFYQ   540
IMTMRRQPQL LVKLRSLNRR SRNVLSLLPE TLIGNMCSIH LLIFYRQILG DVLLKDRMSL   600
QSTDLISHPM LATFPMLLEQ PDVMDALRSS WAGKESTLKR SEKRDKEFLK STFLLVYHDC   660
VLPLLHSTRL PPFRWAEEET ETARWKVITD FLKQNQENQG ALQALLSPDG VHEPFDLSEQ   720
TYDFLGEMRK NAV                                                      733

Coding Sequence

Download: Fasta
ATGCTGGCGA GACGACAGCG AGATCCTCTC CAGGCCCTGC GGCGCCGCAA TCAGGAGCTG    60
AAGCAACAGG TTGATAGTTT GCTTTCTGAG AGCCAACTGA AAGAAGCTCT AGAACCCAAT   120
AAAAGACAAC ATATTTATCA AAGATGTATC CAGTTAAAGC AGGCAATAGA TGAAAATAAA   180
AATGCTCTTC AAAAATTAAG CAAAGCTGAT GAATCTGCAC CTGTTGCAAA CTATAATCAG   240
AGAAAAGAAG AGGAGCATAC TCTTTTGGAC AAGCTTACCC AACAACTGCA GGGCCTTGCT   300
GTGACAATAA GCAGAGAAAA TATAACTGAA GTTGGGGCAC CTACTGAAGA AGAGGAAGAA   360
AGTGAAAGTG AAGATAGTGA AGACAGTGGT GGGGAGGAAG AAGATGCAGA GGAGGAAGAG   420
GAAGAGAAAG AGGAAAATGA ATCTCACAAA TGGTCAACCG GTGAAGAATA CATCGCTGTT   480
GGAGATTTTA CTGCTCAGCA AGTTGGAGAT CTTACATTTA AGAAAGGGGA AATTCTCCTT   540
GTAATTGAAA AAAAACCTGA TGGTTGGTGG ATAGCTAAGG ATGCCAAAGG AAATGAAGGT   600
CTTGTTCCCA GAACCTACCT AGAGCCTTAT AGTGAAGAAG AAGAAGGCCA AGAGTCAAGT   660
GAAGAGGGCA GTGAAGAAGA TGTAGAGGCG GTGGATGAAA CAGCAGATGG AGCAGAAGTT   720
AAGCAAAGAA CTGATCCCCA CTGGAGTGCT GTTCAGAAAG CGATTTCAGA GGCGGGCATC   780
TTCTGTCTTG TTAATCATGT CTCGTTTTGC TACCTAATAG TTCTGATGCG AAATAGGATG   840
GAGACTGTGG AAGACACCAA TGGATCTGAA ACAGGGTTCA GGGCATGGAA TGTACAGAGC   900
AGAGGACGTA TATTTCTGGT TTCTAAGCCT GTGCTCCAAC AGATAAACAC TGTTGATGTG   960
TTAACTACGA TGGGAGCTAT TCCTGCAGGG TTCAGGCCTT CCACGCTCTC ACAGCTTCTG  1020
GAGGAAGGGA ATCAATTTCG AGCAAATTAC TTCTTACAAC CAGAGCTCAT GCCTTCACAA  1080
CTGGCCTTCA GAGATCTGAT GTGGGATGCT ACAGAAGGCA CTATTAGGTC GAGACCAAGT  1140
CGTATTTCAT TGATTCTGAC ATTATGGAGC TGTAAAATGA TTCCTCTTCC AGGAATGAGC  1200
ATACAGGTTC TCAGCAGACA TGTACGCCTC TGTCTATTTG ATGGTAATAA GGTTCTGAGC  1260
AACATTCATA CAGTCAGAGC CACATGGCAA CCTAAAAAGC CCAAAACATG GACCTTTTCT  1320
CCCCAGGTTA CTCGCATCTT ACCATGTTTG CTTGATGGTG ATTGCTTTAT CAGGTCTAAT  1380
TCTGCATCTC CAGATCTTGG AATATTATTT GAACTTGGAA TTTCTTATAT TCGCAATTCA  1440
ACTGGTGAAA GAGGAGAGTT AAGCTGTGGC TGGGTGTTTC TTAAACTTTT TGATGCCAGT  1500
GGAGTTCCTA TTCCAGCAAA AACTTATGAG CTTTTCTTGA ATGGTGGTAC TCCTTATGAA  1560
AAAGGTATTG AAGTGGACCC TTCAATATCC AGAAGAGCAC ACGGCAGTGT TTTCTACCAG  1620
ATTATGACAA TGAGAAGGCA GCCTCAACTT CTAGTGAAAC TGAGATCCTT GAACAGAAGA  1680
TCAAGAAATG TACTAAGTCT ACTGCCAGAA ACATTAATTG GAAATATGTG TTCTATTCAC  1740
TTGTTGATAT TTTATCGACA AATTCTTGGA GATGTGCTCC TGAAAGACAG GATGAGCTTG  1800
CAAAGTACTG ATTTAATTAG CCATCCCATG CTGGCCACCT TCCCCATGCT CTTGGAGCAG  1860
CCTGATGTGA TGGATGCTCT CAGGAGTTCG TGGGCTGGAA AAGAAAGCAC ATTAAAAAGA  1920
TCAGAGAAGA GAGACAAAGA GTTCCTGAAG TCCACGTTTC TCCTGGTTTA CCATGACTGC  1980
GTGCTCCCAC TTCTCCACTC CACACGCCTA CCCCCATTCA GGTGGGCAGA AGAAGAGACT  2040
GAGACTGCAC GGTGGAAAGT TATCACTGAC TTCCTTAAGC AAAACCAAGA AAACCAGGGC  2100
GCCCTCCAAG CTCTGCTGTC ACCAGACGGA GTTCATGAAC CTTTTGACCT TTCAGAGCAG  2160
ACCTATGACT TCTTGGGTGA AATGAGAAAG AATGCAGTGT GA                     2202