Homo sapiens (human): 25953
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Entry
25953 CDS
T01001
Symbol
PNKD, BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, R1, TAHCCP2
Name
(RefSeq) PNKD metallo-beta-lactamase domain containing
KO
K23864
paroxysmal nonkinesiogenic dyskinesia protein
Organism
hsa
Homo sapiens (human)
Disease
H00831
Primary dystonia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
25953 (PNKD)
Membrane trafficking [BR:
hsa04131
]
Exocytosis
Calcium ion-dependent exocytosis
Others
25953 (PNKD)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
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
UniProt:
Q8N490
LinkDB
All DBs
Position
2:218270519..218346793
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AA seq
385 aa
AA seq
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MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPEL
EYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVK
VLPIPVLSDNYSYLIIDTQAQLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGG
NRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGRLQIRALATPGHTQGHLVYLLDG
EPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLGLGDDTLLWPGHEYAEENLGF
AGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLALQEALGPGPGP
TGDDDYSRAQLLEELRRLKDMHKSK
NT seq
1158 nt
NT seq
+upstream
nt +downstream
nt
atggcggcggtggtagctgctacggcgctgaagggccggggggcgagaaatgcccgcgtc
ctccgggggattctcgcaggagccacagctaacaaggcttctcataacaggacccgggcc
ctgcaaagccacagctccccagagggcaaggaggaacctgaacccctatccccggagctg
gaatacattcccagaaagaggggcaagaaccccatgaaagctgtgggactggcctggtac
agcctgtacacccgcacctggctcgggtacctcttctaccgacagcagctgcgcagggct
cggaatcgctaccctaaaggccactcgaaaacccagccccgcctcttcaatggagtgaag
gtgcttcccatccctgtcctctcggacaactacagctacctcatcatcgacacccaggcc
cagctggctgtggctgtggacccttcagaccctcgggctgtgcaggcttccattgaaaag
gaaggggtcaccttggtcgccattctgtgtactcacaagcactgggaccacagtggaggg
aaccgtgacctcagccggcggcaccgggactgtcgggtgtacgggagccctcaggacggc
atcccctacctcacccatcccctgtgtcatcaagatgtggtcagcgtgggacggcttcag
atccgggccctggctacacctggccacacacaaggccatctggtctacctactggatggg
gagccctacaagggtccctcctgcctcttctcaggggacctgctcttcctctctggctgt
gggcggacctttgagggcaatgcagagaccatgctgagctcactggacactgtgctgggg
ctaggggatgacacccttctgtggcctggtcatgagtatgcagaggagaacctgggcttt
gcaggtgtggtggagcccgagaacctggcccgggagaggaagatgcagtgggtgcagcgg
cagcggctggagcgcaagggcacgtgcccatctaccctgggagaggagcgctcctacaac
ccgttcctgagaacccactgcctggcgctacaggaggctctggggccggggccgggcccc
actggggatgatgactactcccgggcccagctcctggaagagctccgccggctgaaggat
atgcacaagagcaagtga
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