| Type | Description |
|---|---|
| Definition | keratin 83 |
| Date | Results | Publications |
|---|---|---|
| 2017-11-26 01:10:00 | Our findings indicate that at least some cases of autosomal recessive Progressive symmetric erythrokeratoderma (PSEK)and autosomal dominant monilethrix are allelic, respectively resulting from loss-of-function and missense mutations in the KRT83 gene | 27965375 |
| 2015-12-05 11:40:00 | Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86. | 25557232 |
| 2010-01-21 00:00:00 | A heterozygous missense mutation in hHb3 causing the substitution of a glutamic acid by a lysine at position 407 in the helix termination motif defines this particular residue as a trichocyte keratin mutational hotspot associated with monilethrix. | 15744029 |
| 2010-01-21 00:00:00 | The KRTHB3 expression uniformly occurred in the midcortex region. | 15797458 |
| Type | IDs |
|---|---|
| Synonymous | EKVP5, HB3, Hb-3, KRTHB3, MNLIX |
| Gene |
UniProtKB-ID:
KRT83_HUMAN
UniprotKB:
P78385
UniParc:
UPI0000070AF2
EMBL:
Y19208,
AK314904,
X99141,
BC069546,
BC128063
Ensembl:
ENSG00000170523
KO:
hsa:3889
|
| Nucleutide sequences |
EMBL-CDS:
AAH69546.1,
CAB76828.1,
AAI28064.1,
BAG37418.1,
CAA67578.1
Ensembl_TRS:
ENST00000293670
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000293670
RefSeq:
NP_002273.3
|
| Others |
UniRef100:
UniRef100_P78385
UniRef90:
UniRef90_P78385
UniRef50:
UniRef50_P78385
UniGene:
Hs.720768
CCDS:
CCDS8823.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员