KEGG   Homo sapiens (human): 27031
Entry
27031             CDS       T01001                                 
Symbol
NPHP3, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
Name
(RefSeq) nephrocystin 3
  KO
K19360  nephrocystin-3
Organism
hsa  Homo sapiens (human)
Disease
H00261  Meckel syndrome
H00537  Nephronophthisis
H00543  Renal-hepatic-pancreatic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    27031 (NPHP3)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Nephronophthisis-related proteins
   27031 (NPHP3)
SSDB
Motif
Pfam: TPR_12 TPR_10 TPR_1 TPR_8 TPR_7 TPR_2 TPR_MalT TPR_16 TPR_19 TPR_17 TPR_3 TPR_11 TPR_6 AAA_16 KAP_NTPase NACHT ANAPC3 AAA_22 DUF2225 AAA_19 AAA_14 Viral_helicase1 FliD_C
Other DBs
NCBI-GeneID: 27031
NCBI-ProteinID: NP_694972
OMIM: 608002
HGNC: 7907
Ensembl: ENSG00000113971
UniProt: Q7Z494
Position
3:complement(132680609..132722409)
AA seq 1330 aa
MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSL
PRGVGAGGLLGASFKSTGSSVPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLD
TENKRLRAELQALQKTYQKILREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKE
NEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAAGTQCEYWTGGALGSE
PSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTV
RCYLIYTDETQPEMDLFLKDYSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKS
SLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLEDGKVSSDSVQQLIDQVSNLNK
TSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDV
LWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLL
SKWIQLQQKNSPNTLILSHFVGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLL
EEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLIDPLPVNVRVIVSVNVETCPPA
WRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGK
MIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQILCLVNVSHN
GVSESELMELYPEMSWTFLTSLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTV
TSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQKLHDCLLNLFVSQNLYKRGH
FAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLS
QAIVPLQRSLEIRETALDPDHPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYG
ADHPYTARELEALATLYQKQNKYEQAEHFRKKSFKIHQKAIKKKGNLYGFALLRRRALQL
EELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSLEMRERVLGPDHPDCAQSLNN
LAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLY
ELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRV
GETLKNLAVLSYEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHS
PNVFLQQGQR
NT seq 3993 nt   +upstreamnt  +downstreamnt
atggggaccgcctcgtcgctcgtgagccccgcgggcggggaagtgatcgaggacacgtac
ggggcgggcggcggcgaggcctgcgagatcccggtggaggtgaagcccaaggcccgcctg
ctgcgcaactcgttccgccgaggcgcgggggcggcagcaggggccgggcccgggtcgctg
ccccgcggggtgggcgcgggcgggctgctgggggccagcttcaagtccactggctcgtcg
gtgccagagctggagtacgcggcggccgagtacgagcggctcaggaaggagtacgagatc
tttcgcgtcagcaagaaccaggagttgttgtccatgggccgccgcgaggccaagctggac
acggagaacaagcggctgcgggccgaactgcaggcacttcaaaaaacgtatcagaagata
cttcgagaaaaagaaagtgctttagaagcgaaataccaagcaatggagagagcagcaaca
tttgaacatgacagagataaagttaaaaggcaattcaagatttttagggagaccaaagaa
aatgaaattcaggacttactgagggccaagagggagttggagagcaaacttcagaggcta
caggctcagggtatccaagtatttgatcctggggagtctgattcagatgacaactgtaca
gatgtcactgctgctggaacccaatgtgaatattggactggcggagccttgggaagtgaa
ccttccataggaagcatgatccagcttcagcagtccttcagaggccctgagtttgcccat
agttctatagatgtggaaggaccctttgcaaatgttaatagagatgactgggatattgct
gtagctagtttattacaagttactcctctgttttcacattctctgtggagtaacactgtc
agatgttacctcatttatacagatgaaacccagcctgagatggatcttttccttaaggac
tattcacctaaacttaagagaatgtgcgagacaatgggatattttttccatgctgtttat
tttccaatagatgttgaaaatcaatacctcactgtaagaaaatgggaaattgagaaaagt
tctttagttattttatttattcacttaacattaccaagccttttattggaagactgtgaa
gaagcttttctgaaaaaccctgaaggaaaacctcgattaatctttcatcgtttggaagat
ggaaaagtcagttctgactctgtccagcaattgattgatcaagtttctaatctaaacaag
accagcaaagccaagatcattgatcactcaggagatcctgcagaaggagtatataaaact
tatatttgtgtagaaaagattattaaacaggacatactgggttttgagaacacagacttg
gagactaaggatttgggcagtgaggattccattccagaagaagatgattttggtgatgtt
ctgtgggacatacatgatgaacaagagcaaatggaaacttttcagcaggcttctaattca
gcccatgagttgggatttgagaaatattaccaacgccttaatgatctagtggcagcacca
gccccgattccacctcttctcgtgtctggaggaccaggttctgggaagtctcttctttta
tcaaagtggattcaattacaacagaagaattcccccaacacactgattctttcccatttt
gtgggaaggcccatgtcaaccagctcagagtcctccttgattattaaacgactaactcta
aagttgatgcagcactcttggtcagtctctgctctgacactggatcctgctaagcttctg
gaagaatttccacgttggctggaaaaactctctgctcgtcatcaaggcagcatcatcatc
gttattgattctatagatcaagttcagcaagttgaaaaacacatgaaatggctgatagat
ccactgccagtgaatgtaagagtaattgtttctgtgaatgtagaaacatgccctccagca
tggaggttgtggcctacacttcatcttgatcccttaagtccaaaagatgcaaaatctatt
ataattgcagaatgccactctgtagacattaaattgagtaaagagcaggagaagaagcta
gaacgacactgtcgttctgctacaacctgcaatgccctttatgtcacccttttcggcaaa
atgatcgcgcgtgctgggagagcaggcaatttagataaaatccttcatcagtgtttccag
tgtcaagatactctttcattatatagacttgttctgcactctatccgggagtccatggca
aatgatgtggataaagagctaatgaagcagatcctctgccttgtcaatgttagtcacaat
ggtgtgagtgaatcagaactgatggaactctatcctgagatgtcctggactttcttgacc
tcccttattcacagtttatacaaaatgtgtttgttgacttatggatgtggcttgcttagg
tttcaacatctgcaggcttgggaaacagtgagattggagtacctggaaggccccactgtt
acttcttcatacaggcaaaagctaatcaactatttcaccttgcagctaagtcaggacaga
gtgacttggagaagtgcagatgaactcccgtggctttttcagcagcagggaagtaaacag
aagctgcatgattgccttcttaatctctttgtgtctcaaaacctttataaaaggggacac
tttgctgagttgctgagttattggcagtttgttggcaaagacaaaagtgcaatggcaaca
gaatacttcgattcattgaagcagtatgagaaaaactgcgaaggcgaggacaacatgagt
tgcttagctgatctttatgaaaccttggggcgatttctcaaggatctaggccttctcagt
caggccatagtacctttgcagaggtctttagagattcgagaaacagctttagatcccgat
cacccaagagtagcccagtccctccaccaactagcaagtgtatacgtgcagtggaagaag
tttggcaatgcagaacaactgtataaacaggcgttggaaatctcagaaaatgcttatggt
gcggaccatccatatactgctcgtgaacttgaagcacttgcaactttgtaccagaaacaa
aataaatatgaacaagctgaacattttaggaaaaaatcctttaaaattcatcagaaagct
ataaagaaaaaaggcaacttgtacggatttgcccttttacgtagacgggctttacagtta
gaagagcttacattaggtaaggacacacctgataatgctcggaccctcaatgaactgggt
gttctctactatcttcaaaataacctggaaacagctgaccagtttctgaagcgttcctta
gaaatgagggagcgagttctaggaccagatcaccctgactgtgctcagtctttgaataat
ctggcagctctatgcaatgaaaagaaacagtatgataaagcagaagaactttatgaaaga
gctttagatattcggagacgtgcattagctcctgatcacccttctttggcatatacggtg
aagcatcttgccatcttgtataagaaaatggggaaacttgacaaagctgtacctttgtat
gaattggctgttgaaattcgacagaaatcttttggcccaaagcaccctagtgtagctact
gccttggtgaacttagctgttctttatagccaaatgaaaaaacacgttgaagctttgcca
ttatatgaaagagcattaaagatttatgaagatagcctgggtcggatgcatcctcgagtt
ggagaaacactgaaaaatttagctgtgcttagctatgaaggaggagattttgaaaaagct
gctgaattatacaaaagggcaatggaaataaaagaagcagaaacatcactcttgggtgga
aaagctccttcacgccattcatcaagtggagacacgtttagcttaaaaacagctcattct
cctaatgttttccttcagcaaggacaaaggtaa

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