| Type | Description |
|---|---|
| Definition | keratin 85 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 10:05:00 | described for the first time KRT85 compound heterozygosity in caucasian patients, leading to pure hair and nail ectodermal dysplasia. Next generation sequencing molecular diagnosis allowed to confirm rapidly the diagnosis and to guide genetic counselling | 31273852 |
| 2010-10-04 11:40:00 | Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. | 20409997 |
| 2010-03-22 11:21:00 | crucial role of K85 in keratinization of hair and nails as shown by homozygous mutations in families | 19865094 |
| 2010-01-21 00:00:00 | Transfected p65 induces transcriptional activation of Hb5. | 18021261 |
| 2010-01-21 00:00:00 | Direct evidence relating to the molecular pathogenesis of pure hair-nail ectodermal dysplasias with KRTHB5 gene mutation. | 16525032 |
| Type | IDs |
|---|---|
| Synonymous | ECTD4, HB5, Hb-5, K85, KRTHB5, hHb5 |
| Gene |
UniProtKB-ID:
KRT85_HUMAN,
F5GYI5_HUMAN,
B7Z7N3_HUMAN
UniprotKB:
P78386,
F5GYI5,
B7Z7N3
UniParc:
UPI000006EB3B,
UPI00020658F1,
UPI0001915147
EMBL:
AC078865,
AK302303,
Y19210,
X99140
Ensembl:
ENSG00000135443
KO:
hsa:3891
|
| Nucleutide sequences |
EMBL-CDS:
CAA67577.1,
CAB76830.1,
BAH13669.1
Ensembl_TRS:
ENST00000257901,
ENST00000544265
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000257901,
ENSP00000440240
RefSeq:
NP_002274.1,
NP_001287739.1
|
| Others |
UniRef100:
UniRef100_P78386,
UniRef100_B7Z7N3,
UniRef100_F5GYI5
UniRef90:
UniRef90_A0A2I3GSY4,
UniRef90_P78386
UniRef50:
UniRef50_P78386,
UniRef50_A0A2I3GSY4
UniGene:
Hs.182507
CCDS:
CCDS8824.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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