| Type | Description |
|---|---|
| Definition | M-phase specific PLK1 interacting protein |
| Date | Results | Publications |
|---|---|---|
| 2018-10-13 12:12:00 | Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis. | 29421601 |
| 2016-10-22 11:28:00 | A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred | 26518168 |
| 2016-05-14 10:42:00 | This study extends the allelic and phenotypic spectra of MPLKIP-related trichothiodystrophy, to include a splice variant that causes cardiomyopathy as part of the trichothiodystrophy phenotype. | 26880286 |
| 2015-05-09 11:41:00 | There is a distinct phenotype relationship in trichothiodystrophy caused by TTDN1 mutations. | 25290684 |
| 2010-01-21 00:00:00 | TTDN1 is phosphorylated in mitosis, and this is required for its interaction with polo-like kinase 1. | 17310276 |
| Type | IDs |
|---|---|
| Synonymous | ABHS, C7orf11, ORF20, TTD4 |
| Gene |
UniProtKB-ID:
MPLKI_HUMAN,
A4D1W6_HUMAN
UniprotKB:
Q8TAP9,
A4D1W6
UniParc:
UPI0000034E29
EMBL:
CH236951,
BC026265,
AK290098,
CH471073
Ensembl:
ENSG00000168303
KO:
hsa:136647
|
| Nucleutide sequences |
EMBL-CDS:
AAH26265.1,
EAL23999.1,
EAW94134.1,
BAF82787.1
Gene_ORFName:
hCG_1780582,
tcag7.446
Ensembl_TRS:
ENST00000306984
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000304553
RefSeq:
NP_619646.1
|
| Others |
UniRef100:
UniRef100_Q8TAP9
UniRef90:
UniRef90_Q8TAP9
UniRef50:
UniRef50_Q8TAP9
UniGene:
Hs.654989
CCDS:
CCDS5463.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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