Homo sapiens (human): 4867
Help
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
SH3_1
SH3_9
SH3_2
hSH3
Motif
Other DBs
NCBI-GeneID:
4867
NCBI-ProteinID:
NP_997064
OMIM:
607100
HGNC:
7905
Ensembl:
ENSG00000144061
UniProt:
O15259
Structure
PDB
PDBj
LinkDB
All DBs
Position
2:complement(110123348..110205013)
Genome browser
AA seq
732 aa
AA seq
DB search
MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENK
NALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEE
SESEDSEDSGGEEEDAEEEEEEKEENESHKWSTGEEYIAVGDFTAQQVGDLTFKKGEILL
VIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSEEDVEAVDETADGAEV
KQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
RGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQL
AFRDLMWDATEGTIRSRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSN
IHTVRATWQPKKPKTWTFSPQVTRILPCLLDGDCFIRSNSASPDLGILFELGISYIRNST
GERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQI
MTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQ
STDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCV
LPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQT
YDFLGEMRKNAV
NT seq
2199 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
