Homo sapiens (human): 261734
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Entry
261734 CDS
T01001
Symbol
NPHP4, POC10, SLSN4
Name
(RefSeq) nephrocystin-4 isoform a
KO
K16478
nephrocystin-4
Organism
hsa
Homo sapiens (human)
Disease
H00537
Nephronophthisis
H00538
Senior-Loken syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
261734 (NPHP4)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
Nephronophthisis-related proteins
261734 (NPHP4)
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Ortholog
Paralog
GFIT
Motif
Pfam:
NPHP4_C2_3rd
Ig_NPHP4_1st
NPHP4_C2_2nd
Ig_NPHP4_4th
Ig_NPHP4_2nd
Ig_NPH4_3rd
NPHP4_SK
Motif
Other DBs
NCBI-GeneID:
261734
NCBI-ProteinID:
NP_055917
OMIM:
607215
HGNC:
19104
Ensembl:
ENSP00000367398.4
UniProt:
O75161
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All DBs
Position
1:complement(5862811..5992425)
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AA seq
1426 aa
AA seq
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MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRV
SFFDVTYRHFFGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRD
GSLQTLSCGFGILRIFSNQPDSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLI
ENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESGDALRKPRLQKPITGH
LDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQR
PQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQL
EYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHC
LVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPS
SPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEF
PLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVL
LQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGT
SWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQ
LRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHLLRQGRPAVQA
SHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCS
TLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKG
PQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRE
RTKAESIASLLSLAITTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDS
QEWRDFKGAAGLHTPVEEDMFHLRGSLAPQLYLRPHETAHVPFKFQSFSAGQLAMVQASP
GLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVELQPHVVDQVFRFYHPE
LSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVAS
GPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRK
VRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWL
VCLCCRQPLISKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQ
VGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIYQ
NT seq
4281 nt
NT seq
+upstream
nt +downstream
nt
atgaacgactggcacaggatcttcacccaaaacgtgcttgtccctccccacccacagaga
gcgcgccagccttggaaggaatccacggcattccagtgtgtcctcaagtggctggacgga
ccggtaattaggcagggcgtgctggaggtactgtcagaggttgaatgccatctgcgagtg
tctttctttgatgtcacctaccggcacttctttgggaggacgtggaaaaccacagtgaag
ccgacgaagagaccgccgtccaggatcgtctttaatgagcccttgtattttcacacatcc
ctaaaccaccctcatatcgtggctgtggtggaagtggtcgctgagggcaagaaacgggat
gggagcctccagacattgtcctgtgggtttggaattcttcggatcttcagcaaccagccg
gactctcctatctctgcttcccaggacaaaaggttgcggctgtaccatggcacccccaga
gccctcctgcacccgcttctccaggaccccgcagagcaaaacagacacatgaccctcatt
gagaactgcagcctgcagtacacgctgaagccacacccggccctggagcctgcgttccac
cttcttcctgagaaccttctggtgtctggtctgcagcagatacctggcctgcttccagct
catggagaatccggcgacgctctccgaaagcctcgcctccagaagcccatcacggggcac
ttggatgacttattcttcaccctgtacccctccctggagaagtttgaggaagagctgctg
gagctccacgtccaggaccacttccaggagggatgtggcccactggacggtggtgccctg
gagatcctggagcggcgcctgcgtgtgggcgtgcacaatggtctgggcttcgtgcagagg
ccgcaggtcgttgtactggtgcctgagatggatgtggccttgacgcgctcagctagcttc
agcaggaaagtggtctcctcttccaagaccagctccgggagccaagctctggttttgaga
agccgcctccgcctcccagagatggtcggccaccctgcatttgcggtcatcttccagctg
gagtacgtgttcagcagccctgcaggagtggacggcaatgcagcttcggtcacctctctg
tccaacctggcatgcatgcacatggtccgctgggctgtttggaaccccttgctggaagct
gattctggaagggtgaccctgcctctgcagggtgggatccagcccaacccctcgcactgt
ctggtctacaaggtaccctcagccagcatgagctctgaagaggtgaagcaggtggagtcg
ggtacactccggttccagttctcgctgggctcagaagaacacctggatgcacccacggag
cctgtcagtggccccaaagtggagcggcggccttccaggaaaccacccacgtccccttcg
agcccgccagcgccagtacctcgagttctcgctgccccgcagaactcacctgtgggacca
gggttgtcaatttcccagctggcggcctccccgcggtccccgactcagcactgcttggcc
aggcctacttcacagctaccccatggctctcaggcctccccggcccaggcacaggagttc
ccgttggaggccggtatctcccacctggaagccgacctgagccagacctccctggtcctg
gaaacatccattgccgaacagttacaggagctgccgttcacgcctttgcatgcccctatt
gttgtgggaacccagaccaggagctctgcagggcagccctcgagagcctccatggtgctc
ctgcagtcctccggctttcccgagattctggatgccaataaacagccagccgaggctgtc
agcgctacagaacctgtgacgtttaaccctcagaaggaagaatcagattgtctacaaagc
aacgagatggtgctacagtttcttgcctttagcagagtggcccaggactgccgaggaaca
tcatggccaaagactgtgtatttcaccttccagttctaccgcttcccacccgcaacgacg
ccacgactgcagctggtccagctggatgaggccggccagcccagctctggcgccctgacc
cacatcctcgtgcctgtgagcagagatggcacctttgatgctgggtctcctggcttccag
ctgaggtacatggtgggccctgggttcctgaagccaggtgagcggcgctgctttgcccgc
tacctggccgtgcagaccctgcagattgacgtctgggacggagactccctgctgctcatc
ggatctgctgccgtccagatgaagcatctcctccgccaaggccggccggctgtgcaggcc
tcccacgagcttgaggtcgtggcaactgaatacgagcaggacaacatggtggtgagtgga
gacatgctggggtttggccgcgtcaagcccatcggcgtccactcggtggtgaagggccgg
ctgcacctgactttggccaacgtgggtcacccgtgtgaacagaaagtgagaggttgtagc
acattgccaccgtccagatctcgggtcatctcaaacgatggagccagccgcttctctgga
ggcagcctcctcacgactggaagctcaaggcgaaaacacgtggtgcaagcacagaagctg
gcggacgtggacagtgagctggctgccatgctactgacccatgcccggcagggcaagggg
ccccaggacgtcagccgcgagtcggatgccacccgcaggcgtaagctggagcggatgagg
tctgtgcgcctgcaggaggccgggggagacttgggccggcgcgggacgagcgtgttggcg
cagcagagcgtccgcacacagcacttgcgggacctacaggtcatcgccgcctaccgggaa
cgcacgaaggccgagagcatcgccagcctgctgagcctggccatcaccacggagcacacg
ctccacgccacgctgggggtcgccgagttctttgagtttgtgcttaagaacccccacaac
acacagcacacggtgactgtggagatcgacaaccccgagctcagcgtcatcgtggacagt
caggagtggagggacttcaagggtgctgctggcctgcacacaccggtggaggaggacatg
ttccacctgcgtggcagcctggccccccagctctacctgcgcccccacgagaccgcccac
gtccccttcaagttccagagcttctctgcagggcagctggccatggtgcaggcctctcct
gggttgagcaacgagaagggcatggacgccgtgtcaccttggaagtccagcgcagtgccc
actaaacacgccaaggtcttgttccgagcgagtggtggcaagcccatcgccgtgctctgc
ctgactgtggagctgcagccccacgtggtggaccaggtcttccgcttctatcacccggag
ctctccttcctgaagaaggccatccgcctgccgccctggcacacatttccaggtgctccg
gtgggaatgcttggtgaggaccccccagtccatgttcgctgcagcgacccgaacgtcatc
tgtgagacccagaatgtgggccccggggaaccacgggacatatttctgaaggtggccagt
ggtccaagcccggagatcaaagacttctttgtcatcatttactcggatcgctggctggcg
acacccacacagacgtggcaggtctacctccactccctgcagcgcgtggatgtctcctgc
gtcgcaggccagctgacccgcctgtcccttgtccttcgggggacacagacagtgaggaaa
gtgagagctttcacctctcatccccaggagctgaagacagaccccaaaggtgtcttcgtg
ctgccgcctcgtggggtgcaggacctgcatgttggcgtgaggccccttagggccggcagc
cgctttgtccatctcaacctggtggacgtggattgccaccagctggtggcctcctggctc
gtgtgcctctgctgccgccagccgctcatctccaaggcctttgagatcatgttggctgcg
ggcgaagggaagggtgtcaacaagaggatcacctacaccaacccctacccctcccggagg
acattccacctgcacagcgaccacccggagctgctgcggttcagagaggactccttccag
gtcgggggtggagagacctacaccatcggcttgcagtttgcgcctagtcagagagtgggt
gaggaggagatcctgatctacatcaatgaccatgaggacaaaaacgaagaggcattttgc
gtgaaggtcatctaccagtga
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