O95678 · K2C75_HUMAN
- ProteinKeratin, type II cytoskeletal 75
- GeneKRT75
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids551 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.
Miscellaneous
May be used as a marker of hair differentiation.
There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 400 | Stutter | ||||
Sequence: Q |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cornified envelope | |
Cellular Component | cytosol | |
Cellular Component | extracellular exosome | |
Cellular Component | intermediate filament | |
Cellular Component | keratin filament | |
Molecular Function | structural constituent of skin epidermis | |
Molecular Function | structural molecule activity | |
Biological Process | hematopoietic progenitor cell differentiation | |
Biological Process | intermediate filament organization | |
Biological Process | keratinization |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameKeratin, type II cytoskeletal 75
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO95678
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Loose anagen hair syndrome (LAHS)
- Note
- DescriptionIn LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage.
- See alsoMIM:600628
Natural variants in LAHS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_038104 | 337 | E>K | in LAHS; dbSNP:rs2232398 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_038098 | 39 | in dbSNP:rs2232384 | |||
Sequence: R → C | ||||||
Natural variant | VAR_038099 | 91 | in dbSNP:rs298109 | |||
Sequence: R → G | ||||||
Natural variant | VAR_038100 | 117 | in dbSNP:rs2232386 | |||
Sequence: P → A | ||||||
Natural variant | VAR_038101 | 161 | may increase risk to develop PFB; the variant is disruptive at late stages of filament assembly compromising the aggregation of keratin molecules into intermediate filaments; dbSNP:rs2232387 | |||
Sequence: A → T | ||||||
Natural variant | VAR_038102 | 209 | in dbSNP:rs2232390 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_038103 | 242 | in dbSNP:rs2232393 | |||
Sequence: E → G | ||||||
Natural variant | VAR_038104 | 337 | in LAHS; dbSNP:rs2232398 | |||
Sequence: E → K | ||||||
Natural variant | VAR_038105 | 367 | in dbSNP:rs2232402 | |||
Sequence: I → V | ||||||
Natural variant | VAR_038106 | 427 | in dbSNP:rs2232405 | |||
Sequence: M → T | ||||||
Natural variant | VAR_038107 | 432 | in dbSNP:rs2232406 | |||
Sequence: R → C | ||||||
Natural variant | VAR_038108 | 485 | in dbSNP:rs298104 | |||
Sequence: S → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 763 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
Protein family/group databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000314887 | 1-551 | Keratin, type II cytoskeletal 75 | |||
Sequence: MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH |
Proteomic databases
PTM databases
Expression
Tissue specificity
Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level).
Gene expression databases
Organism-specific databases
Interaction
Subunit
Heterodimer of a type I and a type II keratin. May associate with KRT17.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-22 | Disordered | ||||
Sequence: MSRQSSITFQSGSRRGFSTTSA | ||||||
Region | 1-148 | Head | ||||
Sequence: MSRQSSITFQSGSRRGFSTTSAITPAAGRSRFSSVSVARSAAGSGGLGRISSAGASFGSRSLYNLGGAKRVSINGCGSSCRSGFGGRASNRFGVNSGFGYGGGVGGGFSGPSFPVCPPGGIQEVTVNQSLLTPLHLQIDPTIQRVRAE | ||||||
Region | 149-184 | Coil 1A | ||||
Sequence: EREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALL | ||||||
Domain | 149-462 | IF rod | ||||
Sequence: EREQIKTLNNKFASFIDKVRFLEQQNKVLETKWALLQEQGSRTVRQNLEPLFDSYTSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQTQVGDTSVVLSMDNNRNLDLDSIIAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGEECRL | ||||||
Region | 185-203 | Linker 1 | ||||
Sequence: QEQGSRTVRQNLEPLFDSY | ||||||
Region | 204-296 | Coil 1B | ||||
Sequence: TSELRRQLESITTERGRLEAELRNMQDVVEDFKVRYEDEINKRTAAENEFVALKKDVDAAYMNKVELEAKVKSLPEEINFIHSVFDAELSQLQ | ||||||
Region | 297-319 | Linker 12 | ||||
Sequence: TQVGDTSVVLSMDNNRNLDLDSI | ||||||
Region | 320-458 | Coil 2 | ||||
Sequence: IAEVKAQYEDIANRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEISEMNRMIQRLRAEIDSVKKQCSSLQTAIADAEQRGELALKDARAKLVDLEEALQKAKQDMARLLREYQELMNIKLALDVEIATYRKLLEGE | ||||||
Region | 459-551 | Tail | ||||
Sequence: ECRLSGEGVSPVNISVVTSTLSSGYGSGSSIGGGNLGLGGGSGYSFTTSGGHSLGAGLGGSGFSATSNRGLGGSGSSVKFVSTTSSSQKSYTH | ||||||
Region | 529-551 | Disordered | ||||
Sequence: LGGSGSSVKFVSTTSSSQKSYTH |
Sequence similarities
Belongs to the intermediate filament family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length551
- Mass (Da)59,560
- Last updated2009-06-16 v2
- Checksum9099CD53A0BAF1EB
Sequence caution
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 284 | in Ref. 1; CAA76730 | ||||
Sequence: I → S |
Polymorphism
The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males.
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y17282 EMBL· GenBank· DDBJ | CAA76730.1 EMBL· GenBank· DDBJ | mRNA | ||
Y19212 EMBL· GenBank· DDBJ | CAB76832.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK298960 EMBL· GenBank· DDBJ | BAG61056.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AC055736 EMBL· GenBank· DDBJ | - | mRNA | No translation available. |