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
Pharos: Q7Z494(Tbio)
UniProt: Q7Z494
Structure
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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Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (37)   
   RefSeq(nuc) (1)   
   GenBank (18)   
   EMBL (18)   
3D Structure (1)   
   PDB (1)   
Protein domain (23)   
   Pfam (23)   
All databases (95)   

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