| Type | Description |
|---|---|
| Definition | PNKD metallo-beta-lactamase domain containing |
| Date | Results | Publications |
|---|---|---|
| 2019-03-23 12:35:00 | A rare heterozygous nonsense mutation (C to T transition) was identified in a Tourette Disorder multiplex family by whole exome sequencing. Tourette or Tic Disorder-affected family members shared a heterozygous nonsense mutation (chr2: 219204814 C/T), which is not present in the unaffected individuals and absent in the background sample | 28894297 |
| 2017-12-02 11:22:00 | The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes. | 28199844 |
| 2017-09-30 13:51:00 | The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). | 27005424 |
| 2016-05-07 11:36:00 | study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders. | 26598494 |
| 2015-08-22 11:31:00 | This study present the pedigree is the first PNKD family from Chinese Mainland, which is also the largest PNKD family among those reported across the globe. It included 5 generations and 26 patients. | 25107857 |
| Type | IDs |
|---|---|
| Synonymous | BRP17, DYT8, FKSG19, FPD1, KIPP1184, MR-1, MR-1S, MR1, PDC, PKND1, PNKD1, TAHCCP2 |
| Gene |
UniProtKB-ID:
PNKD_HUMAN,
A0A024R415_HUMAN
UniprotKB:
Q8N490,
A0A024R415
UniParc:
UPI0000071E62,
UPI00000477F1,
UPI00015B3BEE,
UPI0000246C7E
EMBL:
BC036457,
AL080092,
AB033010,
BC002937,
AL137675,
AF417001,
AK289867,
CH471063,
AF318057,
AF390031,
AY358753,
BC021118,
AY039043
Ensembl:
ENSG00000127838
KO:
hsa:25953
|
| Nucleutide sequences |
EMBL-CDS:
BAA86498.1,
CAB45707.2,
BAF82556.1,
AAL08573.1,
AAK83449.1,
AAH21118.1,
AAH02937.1,
AAL25716.1,
AAQ89113.1,
CAB70870.2,
AAH36457.1,
EAW70604.1,
EAW70602.1,
AAM73649.1,
EAW70606.1
Gene_ORFName:
FKSG19,
UNQ2491/PRO5778,
hCG_1775559
Ensembl_TRS:
ENST00000436005,
ENST00000258362,
ENST00000273077,
ENST00000248451
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000273077,
ENSP00000258362,
ENSP00000248451,
ENSP00000414400
RefSeq:
XP_016859260.1,
NP_001070867.1,
NP_072094.1,
XP_016859261.1,
NP_056303.3
|
| Others |
UniRef100:
UniRef100_Q8N490
UniRef90:
UniRef90_Q8N490
UniRef50:
UniRef50_Q8N490
UniGene:
Hs.98475
CCDS:
CCDS2411.1,
CCDS2413.1,
CCDS42816.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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