Homo sapiens (human): 27031
Help
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
TPR_NPHP3
TPR_12
NPHP3_hel
NPHP3
TPR_10
TPR_1
TPR_8
TPR_7
TPR_2
TPR_MalT
TPR_16
TPR_19
TPR_17
NPHP3_N
TPR_3
TPR_11
TPR_6
AAA_16
KAP_NTPase
NACHT
ANAPC3
AAA_22
DUF2225
AAA_19
AAA_14
T2SSE
Viral_helicase1
ARM_TT21_4th
FliD_C
Motif
Other DBs
NCBI-GeneID:
27031
NCBI-ProteinID:
NP_694972
OMIM:
608002
HGNC:
7907
Ensembl:
ENSG00000113971
UniProt:
Q7Z494
Structure
PDB
PDBj
LinkDB
All DBs
Position
3:complement(132680609..132722409)
Genome browser
AA seq
1330 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
