Homo sapiens Protein: KRT85
Summary
InnateDB Protein IDBP-34428.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KRT85
Protein Name keratin 85
Synonyms ECTD4; Hb-5; HB5; hHb5; K85; KRTHB5;
Species Homo sapiens
Ensembl Protein ENSP00000257901
InnateDB Gene IDBG-34426 (KRT85)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
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.
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}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 20 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
Biological Process
GO:0008544 epidermis development
Cellular Component
GO:0005615 extracellular space
GO:0005882 intermediate filament
GO:0045095 keratin filament
Protein Structure and Domains
PDB ID
InterPro IPR001664 Intermediate filament protein
IPR003054 Keratin, type II
IPR009053 Prefoldin
PFAM PF00038
PRINTS PR01276
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P78386
PhosphoSite PhosphoSite-P78386
TrEMBL
UniProt Splice Variant
Entrez Gene 3891
UniGene Hs.182507
RefSeq NP_002274
HUGO HGNC:6462
OMIM 602767
CCDS CCDS8824
HPRD 04139
IMGT
EMBL X99140 Y19210
GenPept CAA67577 CAB76830