Reviewed,
UniProtKB/Swiss-Prot P78386 (KRT85_HUMAN)
Last modified
July 7, 2009.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Keratin, type II cuticular Hb5 Alternative name(s): Type II hair keratin Hb5 Keratin-85 Short name=K85 K12.12 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 507 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | Heterotetramer of two type I and two type II keratins. |
| 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. Ref.1 |
| Involvement in disease | Defects in KRT85 are the cause of ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDPHN 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. Ref.3 |
| Miscellaneous | There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). |
| Sequence similarities | Belongs to the intermediate filament family. |
| Caution | Maps to a duplicated region on chromosome 12. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Intermediate filament Keratin |
| Coding sequence diversity | Polymorphism |
| Disease | Disease mutation Ectodermal dysplasia |
| Domain | Coiled coil |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | epidermis development Ref.1 Traceable author statement. Source: ProtInc |
| Cellular component | keratin filament Inferred from electronic annotation. Source: InterPro |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct structural molecule activity Ref.1Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CDC20 | Q12834 | 1 | EBI-1049371,EBI-367462 | |
| CDC25B | P30305 | 1 | EBI-1049371,EBI-1051746 | |
| DLG3 | Q92796 | 1 | EBI-1049371,EBI-80440 | |
| LYAR | Q9NX58 | 1 | EBI-1049371,EBI-713507 | |
| PLEKHB2 | Q96CS7 | 1 | EBI-1049371,EBI-373552 | |
| TWF2 | Q6IBS0 | 1 | EBI-1049371,EBI-722204 | |
| YWHAG | P61981 | 1 | EBI-1049371,EBI-359832 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 507 | 507 | Keratin, type II cuticular Hb5 | PRO_0000063702 | |||||
Regions | |||||||||
| Region | 1 – 123 | 123 | Head | ||||||
| Region | 124 – 430 | 307 | Rod | ||||||
| Region | 124 – 158 | 35 | Coil 1A | ||||||
| Region | 159 – 168 | 10 | Linker 1 | ||||||
| Region | 169 – 269 | 101 | Coil 1B | ||||||
| Region | 270 – 286 | 17 | Linker 12 | ||||||
| Region | 287 – 430 | 144 | Coil 2 | ||||||
| Region | 431 – 507 | 77 | Tail | ||||||
Natural variations | |||||||||
| Natural variant | 78 | 1 | R → H in EDPHN. Ref.3 | VAR_029657 | |||||
| Natural variant | 155 | 1 | W → L: dbSNP rs2852471. | VAR_049804 | |||||
Experimental info | |||||||||
| Sequence conflict | 155 | 1 | W → V in CAB76830. Ref.2 | ||||||
Sequences
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References
| [1] | "Sequences and differential expression of three novel human type-II hair keratins." Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J. Differentiation 61:187-194(1997) [PubMed: 9084137] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. |
| [2] | "Characterization of a 300 kbp region of human DNA containing the type II hair keratin." Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J. J. Invest. Dermatol. 114:464-472(2000) [PubMed: 10692104] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type." Naeem M., Wajid M., Lee K., Leal S.M., Ahmad W. J. Med. Genet. 43:274-279(2006) [PubMed: 16525032] [Abstract] Cited for: VARIANT EDPHN HIS-78. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| X99140 mRNA. Translation: CAA67577.1. Y19210 Genomic DNA. Translation: CAB76830.1. | |
| IPI | IPI00032541. |
| RefSeq | NP_002274.1. |
| UniGene | Hs.182507 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1GK7 based on UniProtKB P08670. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P78386. 10 interactions. |
Proteomic databases | |
| PeptideAtlas | P78386. |
| PRIDE | P78386. |
Genome annotation databases | |
| Ensembl | ENSG00000135443. Homo sapiens. [Contig view] |
| GeneID | 3891. |
| KEGG | hsa:3891. |
| UCSC | uc001sag.1. human. |
Organism-specific databases | |
| GeneCards | GC12M051041. |
| H-InvDB | HIX0036866. |
| HGNC | HGNC:6462. KRT85. |
| MIM | 602032. phenotype. 602767. gene. |
| Orphanet | 69084. Ectodermal dysplasia, ''pure'' hair-nail type. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P78386. |
| OMA | P78386. NLGSCGP. |
Gene expression databases | |
| ArrayExpress | P78386. |
| Bgee | P78386. |
| CleanEx | HS_KRT85. |
| GermOnline | ENSG00000135443. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view] |
| PANTHER | PTHR23239. IF. 1 hit. PTHR23239:SF18. Keratin_II. 1 hit. |
| Pfam | PF00038. Filament. 1 hit. [Graphical view] |
| PRINTS | PR01276. TYPE2KERATIN. |
| PROSITE | PS00226. IF. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 15277. |
| SOURCE | Search... |
Entry information
| Entry name | KRT85_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P78386 Secondary accession number(s): Q9NSB1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 12 Human chromosome 12: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


