KEGG   Homo sapiens (human): 4867
Entry
4867              CDS       T01001                                 
Symbol
NPHP1, JBTS4, NPH1, SLSN1
Name
(RefSeq) nephrocystin 1
  KO
K19657  nephrocystin-1
Organism
hsa  Homo sapiens (human)
Disease
H00530  Joubert syndrome and related disorders
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]
    4867 (NPHP1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Nephronophthisis-related proteins
   4867 (NPHP1)
SSDB
Motif
Pfam: SH3_1 SH3_9 SH3_2 hSH3
Other DBs
NCBI-GeneID: 4867
NCBI-ProteinID: NP_997064
OMIM: 607100
HGNC: 7905
Ensembl: ENSG00000144061
UniProt: O15259
Position
2:complement(110123348..110205013)
AA seq 732 aa
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENK
NALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILL
VIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEV
KQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQL
AFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSN
IHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNST
GERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQI
MTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQ
STDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCV
LPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQT
YDFLGEMRKNAV
NT seq 2199 nt   +upstreamnt  +downstreamnt
atgctggcgagacgacagcgagatcctctccaggccctgcggcgccgcaatcaggagctg
aagcaacaggttgatagtttgctttctgagagccaactgaaagaagctctagaacccaat
aaaagacaacatatttatcaaagatgtatccagttaaagcaggcaatagatgaaaataaa
aatgctcttcaaaaattaagcaaagctgatgaatctgcacctgttgcaaactataatcag
agaaaagaagaggagcatactcttttggacaagcttacccaacaactgcagggccttgct
gtgacaataagcagagaaaatataactgaagttggggcacctactgaagaagaggaagaa
agtgaaagtgaagatagtgaagacagtggtggggaggaagaagatgcagaggaggaagag
gaagagaaagaggaaaatgaatctcacaaatggtcaaccggtgaagaatacatcgctgtt
ggagattttactgctcagcaagttggagatcttacatttaagaaaggggaaattctcctt
gtaattgaaaaaaaacctgatggttggtggatagctaaggatgccaaaggaaatgaaggt
cttgttcccagaacctacctagagccttatagtgaagaagaagaaggccaagagtcaagt
gaagagggcagtgaagaagatgtagaggcggtggatgaaacagcagatggagcagaagtt
aagcaaagaactgatccccactggagtgctgttcagaaagcgatttcagaggcgggcatc
ttctgtcttgttaatcatgtctcgttttgctacctaatagttctgatgcgaaataggatg
gagactgtggaagacaccaatggatctgaaacagggttcagggcatggaatgtacagagc
agaggacgtatatttctggtttctaagcctgtgctccaaataaacactgttgatgtgtta
actacgatgggagctattcctgcagggttcaggccttccacgctctcacagcttctggag
gaagggaatcaatttcgagcaaattacttcttacaaccagagctcatgccttcacaactg
gccttcagagatctgatgtgggatgctacagaaggcactattaggtcgagaccaagtcgt
atttcattgattctgacattatggagctgtaaaatgattcctcttccaggaatgagcata
caggttctcagcagacatgtacgcctctgtctatttgatggtaataaggttctgagcaac
attcatacagtcagagccacatggcaacctaaaaagcccaaaacatggaccttttctccc
caggttactcgcatcttaccatgtttgcttgatggtgattgctttatcaggtctaattct
gcatctccagatcttggaatattatttgaacttggaatttcttatattcgcaattcaact
ggtgaaagaggagagttaagctgtggctgggtgtttcttaaactttttgatgccagtgga
gttcctattccagcaaaaacttatgagcttttcttgaatggtggtactccttatgaaaaa
ggtattgaagtggacccttcaatatccagaagagcacacggcagtgttttctaccagatt
atgacaatgagaaggcagcctcaacttctagtgaaactgagatccttgaacagaagatca
agaaatgtactaagtctactgccagaaacattaattggaaatatgtgttctattcacttg
ttgatattttatcgacaaattcttggagatgtgctcctgaaagacaggatgagcttgcaa
agtactgatttaattagccatcccatgctggccaccttccccatgctcttggagcagcct
gatgtgatggatgctctcaggagttcgtgggctggaaaagaaagcacattaaaaagatca
gagaagagagacaaagagttcctgaagtccacgtttctcctggtttaccatgactgcgtg
ctcccacttctccactccacacgcctacccccattcaggtgggcagaagaagagactgag
actgcacggtggaaagttatcactgacttccttaagcaaaaccaagaaaaccagggcgcc
ctccaagctctgctgtcaccagacggagttcatgaaccttttgacctttcagagcagacc
tatgacttcttgggtgaaatgagaaagaatgcagtgtga

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