Reviewed,
UniProtKB/Swiss-Prot P78385 (KRT83_HUMAN)
Last modified
July 7, 2009.
Version 72.
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 Hb3 Alternative name(s): Type II hair keratin Hb3 Keratin-83 Short name=K83 K2.10 | ||||
| Gene names |
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| 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 | 493 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 begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends abruptly in the middle of the cortex. Ref.1 |
| Involvement in disease | Defects in KRT83 are a cause of Monilethrix [MIM:158000]. Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. Ref.5 |
| 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 |
| 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 | structural molecule activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 493 | 493 | Keratin, type II cuticular Hb3 | PRO_0000063699 | |||||
Regions | |||||||||
| Region | 1 – 111 | 111 | Head | ||||||
| Region | 112 – 418 | 307 | Rod | ||||||
| Region | 112 – 146 | 35 | Coil 1A | ||||||
| Region | 147 – 156 | 10 | Linker 1 | ||||||
| Region | 157 – 257 | 101 | Coil 1B | ||||||
| Region | 258 – 274 | 17 | Linker 12 | ||||||
| Region | 275 – 418 | 144 | Coil 2 | ||||||
| Region | 419 – 493 | 75 | Tail | ||||||
Natural variations | |||||||||
| Natural variant | 149 | 1 | R → C: dbSNP rs2857663. Ref.1 Ref.4 | VAR_018119 | |||||
| Natural variant | 279 | 1 | I → M: dbSNP rs2852464. Ref.1 Ref.4 | VAR_018120 | |||||
| Natural variant | 407 | 1 | E → K in Monilethrix. | VAR_023052 | |||||
| Natural variant | 493 | 1 | H → Y: dbSNP rs2857671. Ref.1 Ref.4 Ref.3 | VAR_018121 | |||||
Experimental info | |||||||||
| Sequence conflict | 67 | 1 | S → D in CAA67578. Ref.1 | ||||||
| Sequence conflict | 314 | 1 | I → V in BAG37418. Ref.3 | ||||||
| Sequence conflict | 473 | 1 | C → R in BAG37418. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' 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, VARIANTS CYS-149; MET-279 AND TYR-493. Tissue: Scalp. |
| [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] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT TYR-493. Tissue: Cerebellum. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS CYS-149; MET-279 AND TYR-493. |
| [5] | "A missense mutation in the type II hair keratin hHb3 is associated with monilethrix." van Steensel M.A., Steijlen P.M., Bladergroen R.S., Vermeer M., van Geel M. J. Med. Genet. 42:E19-E19(2005) [PubMed: 15744029] [Abstract] Cited for: VARIANT MONILETHRIX LYS-407. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| X99141 mRNA. Translation: CAA67578.1. Y19208 Genomic DNA. Translation: CAB76828.1. AK314904 mRNA. Translation: BAG37418.1. BC069546 mRNA. Translation: AAH69546.1. BC128063 mRNA. Translation: AAI28064.1. | |
| IPI | IPI00297795. |
| RefSeq | NP_002273.3. |
| UniGene | Hs.714972 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1GK7 based on UniProtKB P08670. |
| ModBase | Search... |
Proteomic databases | |
| PeptideAtlas | P78385. |
Genome annotation databases | |
| Ensembl | ENSG00000170523. Homo sapiens. [Contig view] |
| GeneID | 3889. |
Organism-specific databases | |
| GeneCards | GC12M050995. GC12M050996. |
| H-InvDB | HIX0036826. |
| HGNC | HGNC:6460. KRT83. |
| HPA | CAB004987. |
| MIM | 158000. phenotype. 602765. gene. |
| Orphanet | 573. Monilethrix. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | P78385. |
| OMA | P78385. VEAVNVC. |
Gene expression databases | |
| ArrayExpress | P78385. |
| Bgee | P78385. |
| GermOnline | ENSG00000170523. 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 | |
| SOURCE | Search... |
Entry information
| Entry name | KRT83_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P78385 Secondary accession number(s): A1A4S9 Q9NSB3 | ||||||||
| 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


