KEGG   Homo sapiens (human): 261734Help
Entry
261734            CDS       T01001                                 

Gene name
NPHP4, POC10, SLSN4
Definition
(RefSeq) nephrocystin 4
  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
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    261734 (NPHP4)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Centriole proteins
    261734 (NPHP4)
BRITE hierarchy
SSDB OrthologParalogGFIT
Other DBs
NCBI-GeneID: 261734
NCBI-ProteinID: NP_055917
OMIM: 607215
HGNC: 19104
Ensembl: ENSG00000131697
Vega: OTTHUMG00000000701
Pharos: O75161(Tbio)
UniProt: O75161
Position
1p36.31
AA seq 1426 aa AA seqDB search
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  +upstreamnt  +downstreamnt
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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