KEGG   Homo sapiens (human): 25953Help
Entry
25953             CDS       T01001                                 

Gene name
PNKD, BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR1, PDC, PKND1, PNKD1, TAHCCP2
Definition
(RefSeq) paroxysmal nonkinesigenic dyskinesia
Organism
hsa  Homo sapiens (human)
Disease
H00831  Primary dystonia
SSDB OrthologParalogGFIT
Motif
Pfam: HAGH_C Lactamase_B Lactamase_B_2 Lactamase_B_3
Motif
Other DBs
NCBI-GeneID: 25953
NCBI-ProteinID: NP_056303
OMIM: 609023
HGNC: 9153
Ensembl: ENSG00000127838
Vega: OTTHUMG00000133110
Pharos: Q8N490(Tbio)
UniProt: Q8N490 A0A024R415
Position
2q35
AA seq 385 aa AA seqDB search
MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPEL
EYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVK
VLPIPVLSDNYSYLIIDTQAQLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGG
NRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGRLQIRALATPGHTQGHLVYLLDG
EPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLGLGDDTLLWPGHEYAEENLGF
AGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLALQEALGPGPGP
TGDDDYSRAQLLEELRRLKDMHKSK
NT seq 1158 nt NT seq  +upstreamnt  +downstreamnt
atggcggcggtggtagctgctacggcgctgaagggccggggggcgagaaatgcccgcgtc
ctccgggggattctcgcaggagccacagctaacaaggcttctcataacaggacccgggcc
ctgcaaagccacagctccccagagggcaaggaggaacctgaacccctatccccggagctg
gaatacattcccagaaagaggggcaagaaccccatgaaagctgtgggactggcctggtac
agcctgtacacccgcacctggctcgggtacctcttctaccgacagcagctgcgcagggct
cggaatcgctaccctaaaggccactcgaaaacccagccccgcctcttcaatggagtgaag
gtgcttcccatccctgtcctctcggacaactacagctacctcatcatcgacacccaggcc
cagctggctgtggctgtggacccttcagaccctcgggctgtgcaggcttccattgaaaag
gaaggggtcaccttggtcgccattctgtgtactcacaagcactgggaccacagtggaggg
aaccgtgacctcagccggcggcaccgggactgtcgggtgtacgggagccctcaggacggc
atcccctacctcacccatcccctgtgtcatcaagatgtggtcagcgtgggacggcttcag
atccgggccctggctacacctggccacacacaaggccatctggtctacctactggatggg
gagccctacaagggtccctcctgcctcttctcaggggacctgctcttcctctctggctgt
gggcggacctttgagggcaatgcagagaccatgctgagctcactggacactgtgctgggg
ctaggggatgacacccttctgtggcctggtcatgagtatgcagaggagaacctgggcttt
gcaggtgtggtggagcccgagaacctggcccgggagaggaagatgcagtgggtgcagcgg
cagcggctggagcgcaagggcacgtgcccatctaccctgggagaggagcgctcctacaac
ccgttcctgagaacccactgcctggcgctacaggaggctctggggccggggccgggcccc
actggggatgatgactactcccgggcccagctcctggaagagctccgccggctgaaggat
atgcacaagagcaagtga

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