KEGG   Homo sapiens (human): 25953
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)
SSDB
Motif
Pfam: HAGH_C Lactamase_B Lactamase_B_2 Lactamase_B_3
Other DBs
NCBI-GeneID: 25953
NCBI-ProteinID: NP_056303
OMIM: 609023
HGNC: 9153
Ensembl: ENSG00000127838
UniProt: Q8N490
Position
2:218270519..218346793
AA seq 385 aa
MAAVVAATALKGRGARNARVLRGILAGATANKASHNRTRALQSHSSPEGKEEPEPLSPEL
EYIPRKRGKNPMKAVGLAWYSLYTRTWLGYLFYRQQLRRARNRYPKGHSKTQPRLFNGVK
VLPIPVLSDNYSYLIIDTQAQLAVAVDPSDPRAVQASIEKEGVTLVAILCTHKHWDHSGG
NRDLSRRHRDCRVYGSPQDGIPYLTHPLCHQDVVSVGRLQIRALATPGHTQGHLVYLLDG
EPYKGPSCLFSGDLLFLSGCGRTFEGNAETMLSSLDTVLGLGDDTLLWPGHEYAEENLGF
AGVVEPENLARERKMQWVQRQRLERKGTCPSTLGEERSYNPFLRTHCLALQEALGPGPGP
TGDDDYSRAQLLEELRRLKDMHKSK
NT seq 1158 nt   +upstreamnt  +downstreamnt
atggcggcggtggtagctgctacggcgctgaagggccggggggcgagaaatgcccgcgtc
ctccgggggattctcgcaggagccacagctaacaaggcttctcataacaggacccgggcc
ctgcaaagccacagctccccagagggcaaggaggaacctgaacccctatccccggagctg
gaatacattcccagaaagaggggcaagaaccccatgaaagctgtgggactggcctggtac
agcctgtacacccgcacctggctcgggtacctcttctaccgacagcagctgcgcagggct
cggaatcgctaccctaaaggccactcgaaaacccagccccgcctcttcaatggagtgaag
gtgcttcccatccctgtcctctcggacaactacagctacctcatcatcgacacccaggcc
cagctggctgtggctgtggacccttcagaccctcgggctgtgcaggcttccattgaaaag
gaaggggtcaccttggtcgccattctgtgtactcacaagcactgggaccacagtggaggg
aaccgtgacctcagccggcggcaccgggactgtcgggtgtacgggagccctcaggacggc
atcccctacctcacccatcccctgtgtcatcaagatgtggtcagcgtgggacggcttcag
atccgggccctggctacacctggccacacacaaggccatctggtctacctactggatggg
gagccctacaagggtccctcctgcctcttctcaggggacctgctcttcctctctggctgt
gggcggacctttgagggcaatgcagagaccatgctgagctcactggacactgtgctgggg
ctaggggatgacacccttctgtggcctggtcatgagtatgcagaggagaacctgggcttt
gcaggtgtggtggagcccgagaacctggcccgggagaggaagatgcagtgggtgcagcgg
cagcggctggagcgcaagggcacgtgcccatctaccctgggagaggagcgctcctacaac
ccgttcctgagaacccactgcctggcgctacaggaggctctggggccggggccgggcccc
actggggatgatgactactcccgggcccagctcctggaagagctccgccggctgaaggat
atgcacaagagcaagtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (9)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (43)   
   RefSeq(nuc) (7)   
   GenBank (18)   
   EMBL (18)   
Protein domain (4)   
   Pfam (4)   
All databases (79)   

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