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Protein

Keratin, type II cytoskeletal 6A

Gene

KRT6A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Epidermis-specific type I keratin involved in wound healing. Involved in the activation of follicular keratinocytes after wounding, while it does not play a major role in keratinocyte proliferation or migration. Participates in the regulation of epithelial migration by inhibiting the activity of SRC during wound repair.By similarity

Miscellaneous

There are at least six isoforms of human type II keratin-6 (K6), K6A being the most abundant representing about 77% of all forms found in epithelia.
There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei414Stutter1

GO - Molecular functioni

  • structural constituent of cytoskeleton Source: UniProtKB

GO - Biological processi

  • antimicrobial humoral immune response mediated by antimicrobial peptide Source: UniProtKB
  • cell differentiation Source: UniProtKB
  • cornification Source: Reactome
  • cytolysis in other organism involved in symbiotic interaction Source: UniProtKB
  • defense response to Gram-positive bacterium Source: UniProtKB
  • keratinization Source: Reactome
  • morphogenesis of an epithelium Source: UniProtKB
  • negative regulation of cytolysis by symbiont of host cells Source: UniProtKB
  • negative regulation of entry of bacterium into host cell Source: UniProtKB
  • positive regulation of cell proliferation Source: UniProtKB
  • wound healing Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 6A
Alternative name(s):
Cytokeratin-6A
Short name:
CK-6A
Cytokeratin-6D
Short name:
CK-6D
Keratin-6A
Short name:
K6A
Type-II keratin Kb6
Allergen: Hom s 5
Gene namesi
Name:KRT6A
Synonyms:K6A, KRT6D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:6443. KRT6A.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • keratin filament Source: InterPro
  • membrane Source: UniProtKB
  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Pachyonychia congenita 3 (PC3)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.
See also OMIM:615726
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072446164R → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs62635293Ensembl.1
Natural variantiVAR_072447166Q → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607460Ensembl.1
Natural variantiVAR_072448167I → N in PC3. 1 PublicationCorresponds to variant dbSNP:rs57126929Ensembl.1
Natural variantiVAR_072449170L → F in PC3. 1 PublicationCorresponds to variant dbSNP:rs57448541Ensembl.1
Natural variantiVAR_072450171N → D in PC3. 2 PublicationsCorresponds to variant dbSNP:rs62635294Ensembl.1
Natural variantiVAR_072451171N → K in PC3. 4 PublicationsCorresponds to variant dbSNP:rs59685571Ensembl.1
Natural variantiVAR_072452171N → S in PC3. 3 PublicationsCorresponds to variant dbSNP:rs58556099Ensembl.1
Natural variantiVAR_072453171N → Y in PC3. 1 PublicationCorresponds to variant dbSNP:rs62635294Ensembl.1
Natural variantiVAR_003878171Missing in PC3. 2 Publications1
Natural variantiVAR_072454172Missing in PC3. 3 Publications1
Natural variantiVAR_072455174F → C in PC3. 1 PublicationCorresponds to variant dbSNP:rs61145796Ensembl.1
Natural variantiVAR_072456174F → S in PC3. 3 PublicationsCorresponds to variant dbSNP:rs61145796Ensembl.1
Natural variantiVAR_017075174F → V in PC3. 1 PublicationCorresponds to variant dbSNP:rs28933087Ensembl.1
Natural variantiVAR_072457176S → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs59642296Ensembl.1
Natural variantiVAR_072458178I → N in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607461Ensembl.1
Natural variantiVAR_072459462I → N in PC3. 1 PublicationCorresponds to variant dbSNP:rs57629991Ensembl.1
Natural variantiVAR_072460462I → S in PC3. 1 PublicationCorresponds to variant dbSNP:rs57629991Ensembl.1
Natural variantiVAR_072461463A → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607462Ensembl.1
Natural variantiVAR_072462464T → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs61293647Ensembl.1
Natural variantiVAR_072463465Y → H in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607463Ensembl.1
Natural variantiVAR_072464465Y → S in PC3. 1 Publication1
Natural variantiVAR_072465468L → P in PC3. 2 PublicationsCorresponds to variant dbSNP:rs59018888Ensembl.1
Natural variantiVAR_072466468L → Q in PC3. 1 PublicationCorresponds to variant dbSNP:rs59018888Ensembl.1
Natural variantiVAR_072467469L → P in PC3. 2 PublicationsCorresponds to variant dbSNP:rs57052654Ensembl.1
Natural variantiVAR_017076469L → R in PC3. 2 PublicationsCorresponds to variant dbSNP:rs57052654Ensembl.1
Natural variantiVAR_017077472E → K in PC3. 2 PublicationsCorresponds to variant dbSNP:rs60554162Ensembl.1

Allergenic propertiesi

Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations.

Keywords - Diseasei

Allergen, Disease mutation, Ectodermal dysplasia, Palmoplantar keratoderma

Organism-specific databases

DisGeNETi3853.
GeneReviewsiKRT6A.
MalaCardsiKRT6A.
MIMi615726. phenotype.
OpenTargetsiENSG00000205420.
Orphaneti2309. Pachyonychia congenita.
PharmGKBiPA30231.

Protein family/group databases

Allergomei3326. Hom s 5.0101.
415. Hom s 5.

Polymorphism and mutation databases

BioMutaiKRT6A.
DMDMi1346344.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000637312 – 564Keratin, type II cytoskeletal 6AAdd BLAST563

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiP02538.
PeptideAtlasiP02538.
PRIDEiP02538.
TopDownProteomicsiP02538.

PTM databases

iPTMnetiP02538.
PhosphoSitePlusiP02538.
SwissPalmiP02538.

Expressioni

Tissue specificityi

Constitutively expressed in distinct types of epithelia such as those in oral mucosa, esophagus, papillae of tongue and hair follicle outer root sheath.

Gene expression databases

BgeeiENSG00000205420.
CleanExiHS_KRT6A.
ExpressionAtlasiP02538. baseline and differential.
GenevisibleiP02538. HS.

Organism-specific databases

HPAiHPA045697.
HPA061168.

Interactioni

Subunit structurei

Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17 (By similarity). Interacts with TCHP (PubMed:15731013).By similarity1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110051. 45 interactors.
DIPiDIP-533N.
IntActiP02538. 42 interactors.
STRINGi9606.ENSP00000369317.

Structurei

Secondary structure

1564
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi539 – 541Combined sources3
Helixi547 – 549Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5KI0NMR-A533-551[»]
ProteinModelPortaliP02538.
SMRiP02538.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 162HeadAdd BLAST161
Regioni163 – 472RodAdd BLAST310
Regioni163 – 198Coil 1AAdd BLAST36
Regioni199 – 217Linker 1Add BLAST19
Regioni218 – 309Coil 1BAdd BLAST92
Regioni310 – 333Linker 12Add BLAST24
Regioni334 – 472Coil 2Add BLAST139
Regioni473 – 564TailAdd BLAST92

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG4R. Eukaryota.
ENOG410YY6B. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP02538.
KOiK07605.
OMAiMQDQVED.
OrthoDBiEOG091G09KR.
PhylomeDBiP02538.
TreeFamiTF317854.

Family and domain databases

InterProiView protein in InterPro
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiView protein in Pfam
PF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
PRINTSiPR01276. TYPE2KERATIN.
SMARTiView protein in SMART
SM01391. Filament. 1 hit.
PROSITEiView protein in PROSITE
PS00226. IF. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02538-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSVSVSR SRGSGGLGGA
60 70 80 90 100
CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF
110 120 130 140 150
GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL
160 170 180 190 200
QIDPTIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LETKWTLLQE
210 220 230 240 250
QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR GMQDLVEDFK
260 270 280 290 300
NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA
310 320 330 340 350
LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA
360 370 380 390 400
EAESWYQTKY EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK
410 420 430 440 450
QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE
460 470 480 490 500
LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA
510 520 530 540 550
SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRAIGGGLS SVGGGSSTIK
560
YTTTSSSSRK SYKH
Length:564
Mass (Da):60,045
Last modified:January 23, 2007 - v3
Checksum:i26708916C7DC923A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti192E → D in AAB60696 (PubMed:7543104).Curated1
Sequence conflicti241G → N in AAB60696 (PubMed:7543104).Curated1
Sequence conflicti249F → L in AAB60696 (PubMed:7543104).Curated1
Sequence conflicti395I → S in CAA24760 (PubMed:6191871).Curated1
Sequence conflicti404N → S in AAB60696 (PubMed:7543104).Curated1
Sequence conflicti443R → W in AAH69269 (PubMed:15489334).Curated1
Sequence conflicti486I → V in AAB60696 (PubMed:7543104).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02126421N → S1 PublicationCorresponds to variant dbSNP:rs17845411Ensembl.1
Natural variantiVAR_035030111G → D. Corresponds to variant dbSNP:rs681063Ensembl.1
Natural variantiVAR_072446164R → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs62635293Ensembl.1
Natural variantiVAR_072447166Q → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607460Ensembl.1
Natural variantiVAR_072448167I → N in PC3. 1 PublicationCorresponds to variant dbSNP:rs57126929Ensembl.1
Natural variantiVAR_072449170L → F in PC3. 1 PublicationCorresponds to variant dbSNP:rs57448541Ensembl.1
Natural variantiVAR_072450171N → D in PC3. 2 PublicationsCorresponds to variant dbSNP:rs62635294Ensembl.1
Natural variantiVAR_072451171N → K in PC3. 4 PublicationsCorresponds to variant dbSNP:rs59685571Ensembl.1
Natural variantiVAR_072452171N → S in PC3. 3 PublicationsCorresponds to variant dbSNP:rs58556099Ensembl.1
Natural variantiVAR_072453171N → Y in PC3. 1 PublicationCorresponds to variant dbSNP:rs62635294Ensembl.1
Natural variantiVAR_003878171Missing in PC3. 2 Publications1
Natural variantiVAR_072454172Missing in PC3. 3 Publications1
Natural variantiVAR_072455174F → C in PC3. 1 PublicationCorresponds to variant dbSNP:rs61145796Ensembl.1
Natural variantiVAR_072456174F → S in PC3. 3 PublicationsCorresponds to variant dbSNP:rs61145796Ensembl.1
Natural variantiVAR_017075174F → V in PC3. 1 PublicationCorresponds to variant dbSNP:rs28933087Ensembl.1
Natural variantiVAR_072457176S → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs59642296Ensembl.1
Natural variantiVAR_072458178I → N in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607461Ensembl.1
Natural variantiVAR_072459462I → N in PC3. 1 PublicationCorresponds to variant dbSNP:rs57629991Ensembl.1
Natural variantiVAR_072460462I → S in PC3. 1 PublicationCorresponds to variant dbSNP:rs57629991Ensembl.1
Natural variantiVAR_072461463A → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607462Ensembl.1
Natural variantiVAR_072462464T → P in PC3. 1 PublicationCorresponds to variant dbSNP:rs61293647Ensembl.1
Natural variantiVAR_072463465Y → H in PC3. 1 PublicationCorresponds to variant dbSNP:rs267607463Ensembl.1
Natural variantiVAR_072464465Y → S in PC3. 1 Publication1
Natural variantiVAR_072465468L → P in PC3. 2 PublicationsCorresponds to variant dbSNP:rs59018888Ensembl.1
Natural variantiVAR_072466468L → Q in PC3. 1 PublicationCorresponds to variant dbSNP:rs59018888Ensembl.1
Natural variantiVAR_072467469L → P in PC3. 2 PublicationsCorresponds to variant dbSNP:rs57052654Ensembl.1
Natural variantiVAR_017076469L → R in PC3. 2 PublicationsCorresponds to variant dbSNP:rs57052654Ensembl.1
Natural variantiVAR_017077472E → K in PC3. 2 PublicationsCorresponds to variant dbSNP:rs60554162Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L42583
, L42575, L42576, L42577, L42578, L42579, L42580, L42581 Genomic DNA. Translation: AAC41767.1.
AH005420 Genomic DNA. Translation: AAB60696.1.
BT006899 mRNA. Translation: AAP35545.1.
BC008807 mRNA. Translation: AAH08807.1.
BC014152 mRNA. Translation: AAH14152.1.
BC069269 mRNA. Translation: AAH69269.1.
BC125058 mRNA. Translation: AAI25059.1.
BC139753 mRNA. Translation: AAI39754.1.
V01516 Genomic DNA. Translation: CAA24760.1.
PIRiA57398. KRHUEA.
I61769.
RefSeqiNP_005545.1. NM_005554.3.
UniGeneiHs.700779.

Genome annotation databases

EnsembliENST00000330722; ENSP00000369317; ENSG00000205420.
GeneIDi3853.
KEGGihsa:3853.
UCSCiuc001sam.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiK2C6A_HUMAN
AccessioniPrimary (citable) accession number: P02538
Secondary accession number(s): A4QPC1
, P48667, Q08AR4, Q6NT67, Q96CL4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: August 30, 2017
This is version 180 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Allergens
    Nomenclature of allergens and list of entries
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families