InnateDB Protein
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IDBP-34428.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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KRT85
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Protein Name
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keratin 85
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Synonyms
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ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000257901
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InnateDB Gene
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IDBG-34426 (KRT85)
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Protein Structure
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Function |
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Subcellular Localization |
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Disease Associations |
Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. {ECO:0000269PubMed:16525032}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft. {ECO:0000269PubMed:9084137}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
21
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005198
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structural molecule activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001664
Intermediate filament protein
IPR003054
Keratin, type II
IPR009053
Prefoldin
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PFAM |
PF00038
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PRINTS |
PR01276
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P78386
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PhosphoSite |
PhosphoSite-P78386
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
3891
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UniGene |
Hs.182507
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RefSeq |
NP_002274
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HUGO |
HGNC:6462
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OMIM |
602767
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CCDS |
CCDS8824
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HPRD |
04139
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IMGT |
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EMBL |
X99140
Y19210
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GenPept |
CAA67577
CAB76830
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