SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P13647

- K2C5_HUMAN

UniProt

P13647 - K2C5_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Keratin, type II cytoskeletal 5
Gene
KRT5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei419 – 4191Stutter

GO - Molecular functioni

  1. protein binding Source: IntAct
  2. scaffold protein binding Source: BHF-UCL
  3. structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  1. cell junction assembly Source: Reactome
  2. epidermis development Source: ProtInc
  3. hemidesmosome assembly Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_20537. Type I hemidesmosome assembly.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 5
Alternative name(s):
58 kDa cytokeratin
Cytokeratin-5
Short name:
CK-5
Keratin-5
Short name:
K5
Type-II keratin Kb5
Gene namesi
Name:KRT5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:6442. KRT5.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
  4. intermediate filament Source: BHF-UCL
  5. keratin filament Source: MGI
  6. mitochondrion Source: Ensembl
  7. nucleus Source: UniProt
  8. plasma membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681E → K in DM-EBS. 1 Publication
Corresponds to variant rs58619430 [ dbSNP | Ensembl ].
VAR_027722
Natural varianti169 – 1691R → P in DM-EBS. 1 Publication
Corresponds to variant rs60720877 [ dbSNP | Ensembl ].
VAR_027723
Natural varianti175 – 1751L → F in DM-EBS. 1 Publication
Corresponds to variant rs57890479 [ dbSNP | Ensembl ].
VAR_010456
Natural varianti176 – 1761N → S in DM-EBS. 3 Publications
Corresponds to variant rs59092197 [ dbSNP | Ensembl ].
VAR_010457
Natural varianti179 – 1791F → S in DM-EBS. 1 Publication
Corresponds to variant rs57781042 [ dbSNP | Ensembl ].
VAR_010458
Natural varianti181 – 1811S → P in DM-EBS; with laryngeal involvement. 1 Publication
Corresponds to variant rs60715293 [ dbSNP | Ensembl ].
VAR_010459
Natural varianti193 – 1931N → K in DM-EBS and WC-EBS. 2 Publications
Corresponds to variant rs60586163 [ dbSNP | Ensembl ].
VAR_003873
Natural varianti467 – 4671I → T in DM-EBS. 1 Publication
VAR_010466
Natural varianti469 – 4691T → P in DM-EBS. 1 Publication
VAR_027726
Natural varianti475 – 4751E → G in DM-EBS. 1 Publication
VAR_003877
Natural varianti475 – 4751E → K in DM-EBS. 2 Publications
VAR_023728
Natural varianti477 – 4771E → K in DM-EBS. 3 Publications
VAR_010467
Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti152 – 1521P → L in WC-EBS. 1 Publication
Corresponds to variant rs60617604 [ dbSNP | Ensembl ].
VAR_010454
Natural varianti158 – 1581D → V in WC-EBS. 1 Publication
Corresponds to variant rs61222761 [ dbSNP | Ensembl ].
VAR_031641
Natural varianti161 – 1611I → S in WC-EBS. 1 Publication
Corresponds to variant rs58058996 [ dbSNP | Ensembl ].
VAR_003872
Natural varianti167 – 1671E → K in WC-EBS. 1 Publication
Corresponds to variant rs57378129 [ dbSNP | Ensembl ].
VAR_026536
Natural varianti177 – 1771N → S in WC-EBS. 1 Publication
Corresponds to variant rs61495052 [ dbSNP | Ensembl ].
VAR_026538
Natural varianti190 – 1901E → K in WC-EBS; requires 2 nucleotide substitutions. 1 Publication
Corresponds to variant rs58976397 [ dbSNP | Ensembl ].
VAR_027724
Natural varianti193 – 1931N → K in DM-EBS and WC-EBS. 2 Publications
Corresponds to variant rs60586163 [ dbSNP | Ensembl ].
VAR_003873
Natural varianti199 – 1991K → T in WC-EBS. 1 Publication
Corresponds to variant rs58766676 [ dbSNP | Ensembl ].
VAR_026539
Natural varianti311 – 3111L → P in WC-EBS. 1 Publication
VAR_026540
Natural varianti324 – 3241V → D in WC-EBS. 1 Publication
Corresponds to variant rs59335325 [ dbSNP | Ensembl ].
VAR_026541
Natural varianti327 – 3271M → K in WC-EBS. 1 Publication
VAR_010462
Natural varianti327 – 3271M → T in WC-EBS. 2 Publications
Corresponds to variant rs58072617 [ dbSNP | Ensembl ].
VAR_003874
Natural varianti328 – 3281D → E in WC-EBS. 1 Publication
Corresponds to variant rs59464425 [ dbSNP | Ensembl ].
VAR_026542
Natural varianti328 – 3281D → G in WC-EBS. 1 Publication
VAR_026543
Natural varianti328 – 3281D → H in WC-EBS. 1 Publication
Corresponds to variant rs56790237 [ dbSNP | Ensembl ].
VAR_010463
Natural varianti328 – 3281D → V in WC-EBS. 1 Publication
Corresponds to variant rs57142010 [ dbSNP | Ensembl ].
VAR_010464
Natural varianti329 – 3291N → K in WC-EBS. 1 Publication
Corresponds to variant rs59730172 [ dbSNP | Ensembl ].
VAR_010465
Natural varianti331 – 3311R → C in WC-EBS. 1 Publication
VAR_003875
Natural varianti331 – 3311R → H in WC-EBS. 1 Publication
VAR_027725
Natural varianti352 – 3521R → S in WC-EBS. 1 Publication
VAR_031644
Natural varianti404 – 4041K → E in WC-EBS. 1 Publication
VAR_023726
Natural varianti438 – 4381A → D in WC-EBS. 1 Publication
VAR_023727
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431V → D in K-EBS. 1 Publication
Corresponds to variant rs59851104 [ dbSNP | Ensembl ].
VAR_031640
Natural varianti170 – 1701E → K in K-EBS. 1 Publication
Corresponds to variant rs59115483 [ dbSNP | Ensembl ].
VAR_026537
Natural varianti173 – 1731K → N in K-EBS. 1 Publication
Corresponds to variant rs58163069 [ dbSNP | Ensembl ].
VAR_010455
Natural varianti186 – 1861V → L in K-EBS. 2 Publications
Corresponds to variant rs61305583 [ dbSNP | Ensembl ].
VAR_013829
Natural varianti186 – 1861V → M in K-EBS. 1 Publication
VAR_031642
Natural varianti191 – 1911Q → P in K-EBS. 1 Publication
Corresponds to variant rs57751134 [ dbSNP | Ensembl ].
VAR_031643
Natural varianti323 – 3231V → A in K-EBS. 1 Publication
Corresponds to variant rs59840738 [ dbSNP | Ensembl ].
VAR_010460
Natural varianti325 – 3251L → P in K-EBS. 1 Publication
Corresponds to variant rs58107458 [ dbSNP | Ensembl ].
VAR_010461
Natural varianti418 – 4181E → K in K-EBS. 1 Publication
VAR_026544
Natural varianti463 – 4631L → P in K-EBS. 1 Publication
VAR_003876
Natural varianti517 – 5171G → D in K-EBS. 1 Publication
VAR_031645
Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251P → L in MP-EBS. 3 Publications
Corresponds to variant rs57499817 [ dbSNP | Ensembl ].
VAR_010453
Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

MIMi131760. phenotype.
131800. phenotype.
131900. phenotype.
131960. phenotype.
179850. phenotype.
609352. phenotype.
Orphaneti79145. Dowling-Degos disease.
158681. Epidermolysis bullosa simplex with circinate migratory erythema.
79397. Epidermolysis bullosa simplex with mottled pigmentation.
79396. Epidermolysis bullosa simplex, Dowling-Meara type.
79399. Generalized epidermolysis bullosa simplex, non-Dowling-Meara type.
79400. Localized epidermolysis bullosa simplex.
PharmGKBiPA30230.

Protein family/group databases

Allergomei415. Hom s 5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 590590Keratin, type II cytoskeletal 5
PRO_0000063727Add
BLAST

Proteomic databases

MaxQBiP13647.
PaxDbiP13647.
PRIDEiP13647.
ProMEXiP13647.

PTM databases

PhosphoSiteiP13647.

Expressioni

Gene expression databases

ArrayExpressiP13647.
BgeeiP13647.
CleanExiHS_KRT5.
GenevestigatoriP13647.

Organism-specific databases

HPAiCAB000027.
CAB000129.
HPA059479.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with TCHP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ALOX12P180547EBI-702187,EBI-1633210
PKP1Q13835-22EBI-702187,EBI-9087684

Protein-protein interaction databases

BioGridi110050. 44 interactions.
DIPiDIP-39N.
IntActiP13647. 17 interactions.
STRINGi9606.ENSP00000252242.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi383 – 47290

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3TNUX-ray3.00B350-477[»]
ProteinModelPortaliP13647.
SMRiP13647. Positions 165-304, 334-476.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 167167Head
Add
BLAST
Regioni168 – 477310Rod
Add
BLAST
Regioni168 – 20336Coil 1A
Add
BLAST
Regioni204 – 22219Linker 1
Add
BLAST
Regioni223 – 31593Coil 1B
Add
BLAST
Regioni316 – 33823Linker 12
Add
BLAST
Regioni339 – 477139Coil 2
Add
BLAST
Regioni478 – 590113Tail
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi39 – 139101Gly-rich
Add
BLAST
Compositional biasi528 – 59063Ser-rich
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG146769.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP13647.
KOiK07605.
OMAiCGVGGYG.
OrthoDBiEOG7FV3Q8.
PhylomeDBiP13647.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P13647-1 [UniParc]FASTAAdd to Basket

« Hide

MSRQSSVSFR SGGSRSFSTA SAITPSVSRT SFTSVSRSGG GGGGGFGRVS    50
LAGACGVGGY GSRSLYNLGG SKRISISTSG GSFRNRFGAG AGGGYGFGGG 100
AGSGFGFGGG AGGGFGLGGG AGFGGGFGGP GFPVCPPGGI QEVTVNQSLL 150
TPLNLQIDPS IQRVRTEERE QIKTLNNKFA SFIDKVRFLE QQNKVLDTKW 200
TLLQEQGTKT VRQNLEPLFE QYINNLRRQL DSIVGERGRL DSELRNMQDL 250
VEDFKNKYED EINKRTTAEN EFVMLKKDVD AAYMNKVELE AKVDALMDEI 300
NFMKMFFDAE LSQMQTHVSD TSVVLSMDNN RNLDLDSIIA EVKAQYEEIA 350
NRSRTEAESW YQTKYEELQQ TAGRHGDDLR NTKHEISEMN RMIQRLRAEI 400
DNVKKQCANL QNAIADAEQR GELALKDARN KLAELEEALQ KAKQDMARLL 450
REYQELMNTK LALDVEIATY RKLLEGEECR LSGEGVGPVN ISVVTSSVSS 500
GYGSGSGYGG GLGGGLGGGL GGGLAGGSSG SYYSSSSGGV GLGGGLSVGG 550
SGFSASSGRG LGVGFGSGGG SSSSVKFVST TSSSRKSFKS 590
Length:590
Mass (Da):62,378
Last modified:April 3, 2007 - v3
Checksum:iE9D5318E01F55145
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251P → L in MP-EBS. 3 Publications
Corresponds to variant rs57499817 [ dbSNP | Ensembl ].
VAR_010453
Natural varianti79 – 791S → R.2 Publications
Corresponds to variant rs1065115 [ dbSNP | Ensembl ].
VAR_028763
Natural varianti138 – 1381G → E.1 Publication
Corresponds to variant rs11170164 [ dbSNP | Ensembl ].
VAR_003871
Natural varianti143 – 1431V → D in K-EBS. 1 Publication
Corresponds to variant rs59851104 [ dbSNP | Ensembl ].
VAR_031640
Natural varianti152 – 1521P → L in WC-EBS. 1 Publication
Corresponds to variant rs60617604 [ dbSNP | Ensembl ].
VAR_010454
Natural varianti158 – 1581D → V in WC-EBS. 1 Publication
Corresponds to variant rs61222761 [ dbSNP | Ensembl ].
VAR_031641
Natural varianti161 – 1611I → S in WC-EBS. 1 Publication
Corresponds to variant rs58058996 [ dbSNP | Ensembl ].
VAR_003872
Natural varianti167 – 1671E → K in WC-EBS. 1 Publication
Corresponds to variant rs57378129 [ dbSNP | Ensembl ].
VAR_026536
Natural varianti168 – 1681E → K in DM-EBS. 1 Publication
Corresponds to variant rs58619430 [ dbSNP | Ensembl ].
VAR_027722
Natural varianti169 – 1691R → P in DM-EBS. 1 Publication
Corresponds to variant rs60720877 [ dbSNP | Ensembl ].
VAR_027723
Natural varianti170 – 1701E → K in K-EBS. 1 Publication
Corresponds to variant rs59115483 [ dbSNP | Ensembl ].
VAR_026537
Natural varianti173 – 1731K → N in K-EBS. 1 Publication
Corresponds to variant rs58163069 [ dbSNP | Ensembl ].
VAR_010455
Natural varianti175 – 1751L → F in DM-EBS. 1 Publication
Corresponds to variant rs57890479 [ dbSNP | Ensembl ].
VAR_010456
Natural varianti176 – 1761N → S in DM-EBS. 3 Publications
Corresponds to variant rs59092197 [ dbSNP | Ensembl ].
VAR_010457
Natural varianti177 – 1771N → S in WC-EBS. 1 Publication
Corresponds to variant rs61495052 [ dbSNP | Ensembl ].
VAR_026538
Natural varianti179 – 1791F → S in DM-EBS. 1 Publication
Corresponds to variant rs57781042 [ dbSNP | Ensembl ].
VAR_010458
Natural varianti181 – 1811S → P in DM-EBS; with laryngeal involvement. 1 Publication
Corresponds to variant rs60715293 [ dbSNP | Ensembl ].
VAR_010459
Natural varianti186 – 1861V → L in K-EBS. 2 Publications
Corresponds to variant rs61305583 [ dbSNP | Ensembl ].
VAR_013829
Natural varianti186 – 1861V → M in K-EBS. 1 Publication
VAR_031642
Natural varianti190 – 1901E → K in WC-EBS; requires 2 nucleotide substitutions. 1 Publication
Corresponds to variant rs58976397 [ dbSNP | Ensembl ].
VAR_027724
Natural varianti191 – 1911Q → P in K-EBS. 1 Publication
Corresponds to variant rs57751134 [ dbSNP | Ensembl ].
VAR_031643
Natural varianti193 – 1931N → K in DM-EBS and WC-EBS. 2 Publications
Corresponds to variant rs60586163 [ dbSNP | Ensembl ].
VAR_003873
Natural varianti197 – 1971D → E.2 Publications
Corresponds to variant rs641615 [ dbSNP | Ensembl ].
VAR_028764
Natural varianti199 – 1991K → T in WC-EBS. 1 Publication
Corresponds to variant rs58766676 [ dbSNP | Ensembl ].
VAR_026539
Natural varianti232 – 2321S → N.
Corresponds to variant rs3194286 [ dbSNP | Ensembl ].
VAR_028765
Natural varianti311 – 3111L → P in WC-EBS. 1 Publication
VAR_026540
Natural varianti323 – 3231V → A in K-EBS. 1 Publication
Corresponds to variant rs59840738 [ dbSNP | Ensembl ].
VAR_010460
Natural varianti324 – 3241V → D in WC-EBS. 1 Publication
Corresponds to variant rs59335325 [ dbSNP | Ensembl ].
VAR_026541
Natural varianti325 – 3251L → P in K-EBS. 1 Publication
Corresponds to variant rs58107458 [ dbSNP | Ensembl ].
VAR_010461
Natural varianti327 – 3271M → K in WC-EBS. 1 Publication
VAR_010462
Natural varianti327 – 3271M → T in WC-EBS. 2 Publications
Corresponds to variant rs58072617 [ dbSNP | Ensembl ].
VAR_003874
Natural varianti328 – 3281D → E in WC-EBS. 1 Publication
Corresponds to variant rs59464425 [ dbSNP | Ensembl ].
VAR_026542
Natural varianti328 – 3281D → G in WC-EBS. 1 Publication
VAR_026543
Natural varianti328 – 3281D → H in WC-EBS. 1 Publication
Corresponds to variant rs56790237 [ dbSNP | Ensembl ].
VAR_010463
Natural varianti328 – 3281D → V in WC-EBS. 1 Publication
Corresponds to variant rs57142010 [ dbSNP | Ensembl ].
VAR_010464
Natural varianti329 – 3291N → K in WC-EBS. 1 Publication
Corresponds to variant rs59730172 [ dbSNP | Ensembl ].
VAR_010465
Natural varianti331 – 3311R → C in WC-EBS. 1 Publication
VAR_003875
Natural varianti331 – 3311R → H in WC-EBS. 1 Publication
VAR_027725
Natural varianti352 – 3521R → S in WC-EBS. 1 Publication
VAR_031644
Natural varianti387 – 3871S → T.2 Publications
Corresponds to variant rs2669875 [ dbSNP | Ensembl ].
VAR_028766
Natural varianti404 – 4041K → E in WC-EBS. 1 Publication
VAR_023726
Natural varianti418 – 4181E → K in K-EBS. 1 Publication
VAR_026544
Natural varianti438 – 4381A → D in WC-EBS. 1 Publication
VAR_023727
Natural varianti463 – 4631L → P in K-EBS. 1 Publication
VAR_003876
Natural varianti467 – 4671I → T in DM-EBS. 1 Publication
VAR_010466
Natural varianti469 – 4691T → P in DM-EBS. 1 Publication
VAR_027726
Natural varianti475 – 4751E → G in DM-EBS. 1 Publication
VAR_003877
Natural varianti475 – 4751E → K in DM-EBS. 2 Publications
VAR_023728
Natural varianti477 – 4771E → K in DM-EBS. 3 Publications
VAR_010467
Natural varianti517 – 5171G → D in K-EBS. 1 Publication
VAR_031645
Natural varianti528 – 5281S → G.1 Publication
Corresponds to variant rs11549950 [ dbSNP | Ensembl ].
VAR_028767
Natural varianti543 – 5431G → S.2 Publications
Corresponds to variant rs11549949 [ dbSNP | Ensembl ].
VAR_028768

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti9 – 113FRS → SGA1 Publication
Sequence conflicti261 – 2611E → Q in AAA36145. 1 Publication
Sequence conflicti271 – 2711E → H in AAA36145. 1 Publication
Sequence conflicti375 – 3751H → E1 Publication
Sequence conflicti558 – 5581G → S1 Publication
Sequence conflicti558 – 5581G → S in AAA36145. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M21389 mRNA. Translation: AAA36143.1.
M28496 Genomic DNA. No translation available.
AF274874 Genomic DNA. Translation: AAF97931.1.
BC024292 mRNA. Translation: AAH24292.1.
BC042132 mRNA. Translation: AAH42132.1.
BC071906 mRNA. Translation: AAH71906.1.
M19723 mRNA. Translation: AAA36145.1.
AY373434 mRNA. Translation: AAQ81588.1.
CCDSiCCDS8830.1.
PIRiA29904.
RefSeqiNP_000415.2. NM_000424.3.
UniGeneiHs.433845.

Genome annotation databases

EnsembliENST00000252242; ENSP00000252242; ENSG00000186081.
GeneIDi3852.
KEGGihsa:3852.
UCSCiuc001san.3. human.

Polymorphism databases

DMDMi143811411.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M21389 mRNA. Translation: AAA36143.1 .
M28496 Genomic DNA. No translation available.
AF274874 Genomic DNA. Translation: AAF97931.1 .
BC024292 mRNA. Translation: AAH24292.1 .
BC042132 mRNA. Translation: AAH42132.1 .
BC071906 mRNA. Translation: AAH71906.1 .
M19723 mRNA. Translation: AAA36145.1 .
AY373434 mRNA. Translation: AAQ81588.1 .
CCDSi CCDS8830.1.
PIRi A29904.
RefSeqi NP_000415.2. NM_000424.3.
UniGenei Hs.433845.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3TNU X-ray 3.00 B 350-477 [» ]
ProteinModelPortali P13647.
SMRi P13647. Positions 165-304, 334-476.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110050. 44 interactions.
DIPi DIP-39N.
IntActi P13647. 17 interactions.
STRINGi 9606.ENSP00000252242.

Protein family/group databases

Allergomei 415. Hom s 5.

PTM databases

PhosphoSitei P13647.

Polymorphism databases

DMDMi 143811411.

Proteomic databases

MaxQBi P13647.
PaxDbi P13647.
PRIDEi P13647.
ProMEXi P13647.

Protocols and materials databases

DNASUi 3852.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252242 ; ENSP00000252242 ; ENSG00000186081 .
GeneIDi 3852.
KEGGi hsa:3852.
UCSCi uc001san.3. human.

Organism-specific databases

CTDi 3852.
GeneCardsi GC12M052908.
GeneReviewsi KRT5.
H-InvDB HIX0010655.
HGNCi HGNC:6442. KRT5.
HPAi CAB000027.
CAB000129.
HPA059479.
MIMi 131760. phenotype.
131800. phenotype.
131900. phenotype.
131960. phenotype.
148040. gene.
179850. phenotype.
609352. phenotype.
neXtProti NX_P13647.
Orphaneti 79145. Dowling-Degos disease.
158681. Epidermolysis bullosa simplex with circinate migratory erythema.
79397. Epidermolysis bullosa simplex with mottled pigmentation.
79396. Epidermolysis bullosa simplex, Dowling-Meara type.
79399. Generalized epidermolysis bullosa simplex, non-Dowling-Meara type.
79400. Localized epidermolysis bullosa simplex.
PharmGKBi PA30230.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146769.
HOGENOMi HOG000230976.
HOVERGENi HBG013015.
InParanoidi P13647.
KOi K07605.
OMAi CGVGGYG.
OrthoDBi EOG7FV3Q8.
PhylomeDBi P13647.
TreeFami TF317854.

Enzyme and pathway databases

Reactomei REACT_20537. Type I hemidesmosome assembly.

Miscellaneous databases

ChiTaRSi KRT5. human.
GeneWikii Keratin_5.
GenomeRNAii 3852.
NextBioi 15157.
PROi P13647.
SOURCEi Search...

Gene expression databases

ArrayExpressi P13647.
Bgeei P13647.
CleanExi HS_KRT5.
Genevestigatori P13647.

Family and domain databases

InterProi IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR003054. Keratin_II.
[Graphical view ]
PANTHERi PTHR23239. PTHR23239. 1 hit.
Pfami PF00038. Filament. 1 hit.
[Graphical view ]
PRINTSi PR01276. TYPE2KERATIN.
PROSITEi PS00226. IF. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins."
    Eckert R.L., Rorke E.A.
    DNA 7:337-345(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ARG-79 AND THR-387.
  2. "Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control."
    Lersch R., Stellmach V., Stocks X., Giudice G., Fuchs E.
    Mol. Cell. Biol. 9:3685-3697(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLU-197.
  3. "Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5."
    Whittock N.V., Eady R.A.J., McGrath J.A.
    Biochem. Biophys. Res. Commun. 274:149-152(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-79 AND THR-387.
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-528 AND SER-543.
    Tissue: Brain and Pancreas.
  5. "Sequence and expression of a type II keratin, K5, in human epidermal cells."
    Lersch R., Fuchs E.
    Mol. Cell. Biol. 8:486-493(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 83-590, VARIANT GLU-197.
  6. "A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex."
    Xu Z., Dong H., Sun X., Zhu X., Yang Y.
    Clin. Exp. Dermatol. 29:74-76(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 186-256, VARIANT WC-EBS THR-199.
  7. "Isolation and characterization of a cDNA clone coding for human epidermal keratin K5. Sequence of the carboxyterminal half of this keratin."
    Galup C., Darmon M.Y.
    J. Invest. Dermatol. 91:39-42(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 348-590, VARIANT SER-543.
  8. "Identification of trichoplein, a novel keratin filament-binding protein."
    Nishizawa M., Izawa I., Inoko A., Hayashi Y., Nagata K., Yokoyama T., Usukura J., Inagaki M.
    J. Cell Sci. 118:1081-1090(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TCHP.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Structural basis for heteromeric assembly and perinuclear organization of keratin filaments."
    Lee C.H., Kim M.S., Chung B.M., Leahy D.J., Coulombe P.A.
    Nat. Struct. Mol. Biol. 19:707-715(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF 350-477 IN COMPLEX WITH KRT14.
  11. "A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering."
    Lane E.B., Rugg E.L., Navsaria H.A., Leigh I.M., Heagerty A.H.M., Ishida-Yamamoto A., Eady R.A.J.
    Nature 356:244-246(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS GLY-475.
  12. "Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex."
    Dong W., Ryynaenen M., Uitto J.
    Hum. Mutat. 2:94-102(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT K-EBS PRO-463.
  13. "Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12."
    Wanner R., Foerster H.-H., Tilmans I., Mischke D.
    J. Invest. Dermatol. 100:735-741(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLU-138.
  14. "Clustering of epidermolysis bullosa simplex mutations in relation to disease phenotype: data from Weber-Cockayne EBS."
    Smith F.J.D., Morley S.M., Rugg E.L., Navsaria H.A., Leigh I.M., Eady R.A.J., Tidman M.J., Lane E.B.
    J. Invest. Dermatol. 101:481A-481A(1993)
    Cited for: VARIANT DM-EBS LYS-193.
  15. "Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function."
    Rugg E.L., Morley S.M., Smith F.J.D., Boxer M., Tidman M.J., Navsaria H.A., Leigh I.M., Lane E.B.
    Nat. Genet. 5:294-300(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS CYS-331.
  16. "The genetic basis of Weber-Cockayne epidermolysis bullosa simplex."
    Chan Y.-M., Yu Q.-C., Fine J.-D., Fuchs E.
    Proc. Natl. Acad. Sci. U.S.A. 90:7414-7418(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS SER-161.
  17. "Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex."
    Chan Y.-M., Yu Q.-C., LeBlanc-Straceski J., Christiano A., Pulkkinen L., Kucherlapati R.S., Uitto J., Fuchs E.
    J. Cell Sci. 107:765-774(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WC-EBS THR-327 AND LYS-329.
  18. "Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function."
    Stephens K., Zlotogorski A., Smith L., Ehrlich P., Wijsman E.M., Livingston R.J., Sybert V.P.
    Am. J. Hum. Genet. 56:577-585(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT K-EBS ASN-173.
  19. "Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in linker 12 domain of keratin 5."
    Matsuki M., Hashimoto K., Yoshikawa K., Yasuno H., Yamanishi K.
    Hum. Mol. Genet. 4:1999-2000(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS VAL-328.
  20. "Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland."
    Humphries M.M., Mansergh F.C., Kiang A.-S., Jordan S.A., Sheils D.M., Martin M.J., Farrar G.J., Kenna P.F., Young M.M., Humphries P.
    Hum. Mutat. 8:57-63(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WC-EBS LYS-193 AND THR-327.
  21. "A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex."
    Nomura K., Shimizu H., Meng X., Umeki K., Tamai K., Sawamura D., Nagao K., Kawakami T., Nishikawa T., Hashimoto I.
    J. Invest. Dermatol. 107:253-254(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS PHE-175.
  22. Cited for: VARIANT MP-EBS LEU-25.
  23. "Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients."
    Stephens K., Ehrlich P., Weaver M., Le R., Spencer A., Sybert V.P.
    J. Invest. Dermatol. 108:349-353(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DM-EBS SER-176; SER-179 AND LYS-477.
  24. "A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara."
    Irvine A.D., McKenna K.E., Bingham A., Nevin N.C., Hughes A.E.
    J. Invest. Dermatol. 109:815-816(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS THR-467.
  25. "A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex."
    Galligan P., Listwan P., Siller G.M., Rothnagel J.A.
    J. Invest. Dermatol. 111:524-527(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT K-EBS ALA-323.
  26. "Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex."
    Mueller F.B., Kuester W., Bruckner-Tuderman L., Korge B.P.
    J. Invest. Dermatol. 111:900-902(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WC-EBS LEU-152; LYS-327 AND HIS-328.
  27. "Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients."
    Moog U., de Die-Smulders C.E.M., Scheffer H., van der Vlies P., Henquet C.J.M., Jonkman M.F.
    Am. J. Med. Genet. 86:376-379(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MP-EBS LEU-25.
  28. "Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype."
    Soerensen C.B., Ladekjaer-Mikkelsen A.-S., Andresen B.S., Brandrup F., Veien N.K., Buus S.K., Anton-Lamprecht I., Kruse T.A., Jensen P.K.A., Eiberg H., Bolund L., Gregersen N.
    J. Invest. Dermatol. 112:184-190(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS SER-176, VARIANT K-EBS PRO-325.
  29. "Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential."
    Shemanko C.S., Horn H.M., Keohane S.G., Hepburn N., Kerr A.I.G., Atherton D.J., Tidman M.J., Lane E.B.
    Br. J. Dermatol. 142:315-320(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DM-EBS PRO-181.
  30. "K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne)."
    Liovic M., Podrumac B., Dragos V., Vouk K., Komel R.
    Hum. Hered. 50:234-236(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS GLU-328.
  31. "A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes."
    Liovic M., Stojan J., Bowden P.E., Gibbs D., Vahlquist A., Lane E.B., Komel R.
    J. Invest. Dermatol. 116:964-969(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT K-EBS LEU-186.
  32. "Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly."
    Yasukawa K., Sawamura D., McMillan J.R., Nakamura H., Shimizu H.
    J. Biol. Chem. 277:23670-23674(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS K-EBS LYS-170 AND LYS-418.
  33. Cited for: VARIANTS WC-EBS LYS-167; PRO-311 AND ASP-324.
  34. "Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations."
    Schuilenga-Hut P.H.L., Vlies P., Jonkman M.F., Waanders E., Buys C.H.C.M., Scheffer H.
    Hum. Mutat. 21:447-447(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WC-EBS GLU-404 AND ASP-438, VARIANTS DM-EBS LYS-475 AND LYS-477.
  35. "A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema."
    Gu L.-H., Kim S.-C., Ichiki Y., Park J., Nagai M., Kitajima Y.
    J. Invest. Dermatol. 121:482-485(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN EBS WITH MIGRATORY CIRCINATE ERYTHEMA.
  36. "A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex."
    Li J.-G., Feng J., Xiao S.-X., Ai Y.-L., Wang J.-M., Peng Z.-H.
    Clin. Exp. Dermatol. 29:539-541(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS GLY-328.
  37. "A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype."
    Liovic M., Bowden P.E., Marks R., Komel R.
    Exp. Dermatol. 13:332-334(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT WC-EBS SER-177.
  38. Cited for: INVOLVEMENT IN DDD1.
  39. "Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases."
    Yasukawa K., Sawamura D., Goto M., Nakamura H., Jung S.-Y., Kim S.-C., Shimizu H.
    Br. J. Dermatol. 155:313-317(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS WC-EBS LEU-25; VAL-158 AND SER-352, VARIANTS K-EBS ASP-143; MET-186; LEU-186; PRO-191 AND ASP-517, VARIANTS DM-EBS SER-176; LYS-475 AND LYS-477, VARIANT MP-EBS LEU-25.
  40. "Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly."
    Mueller F.B., Kuester W., Wodecki K., Almeida H. Jr., Bruckner-Tuderman L., Krieg T., Korge B.P., Arin M.J.
    Hum. Mutat. 27:719-720(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS DM-EBS LYS-168; PRO-169 AND PRO-469, VARIANTS WC-EBS LYS-190 AND HIS-331.

Entry informationi

Entry nameiK2C5_HUMAN
AccessioniPrimary (citable) accession number: P13647
Secondary accession number(s): Q6PI71, Q6UBJ0, Q8TA91
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: April 3, 2007
Last modified: September 3, 2014
This is version 172 of the entry and version 3 of the sequence. [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

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3

Similar proteinsi