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P13647

- K2C5_HUMAN

UniProt

P13647 - K2C5_HUMAN

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
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    • History
      Entry version 173 (01 Oct 2014)
      Sequence version 3 (03 Apr 2007)
      Previous versions | rss
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    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

    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. membrane Source: UniProtKB
    7. mitochondrion Source: Ensembl
    8. nucleus Source: UniProt
    9. plasma membrane Source: Ensembl

    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.10 Publications
    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.14 Publications
    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.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 5PRO_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.2 Publications

    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

    1
    590
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 167167HeadAdd
    BLAST
    Regioni168 – 477310RodAdd
    BLAST
    Regioni168 – 20336Coil 1AAdd
    BLAST
    Regioni204 – 22219Linker 1Add
    BLAST
    Regioni223 – 31593Coil 1BAdd
    BLAST
    Regioni316 – 33823Linker 12Add
    BLAST
    Regioni339 – 477139Coil 2Add
    BLAST
    Regioni478 – 590113TailAdd
    BLAST

    Compositional bias

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

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti9 – 113FRS → SGA(PubMed:2476664)Curated
    Sequence conflicti261 – 2611E → Q in AAA36145. (PubMed:2447486)Curated
    Sequence conflicti271 – 2711E → H in AAA36145. (PubMed:2447486)Curated
    Sequence conflicti375 – 3751H → E(PubMed:2455002)Curated
    Sequence conflicti558 – 5581G → S(PubMed:2476664)Curated
    Sequence conflicti558 – 5581G → S in AAA36145. (PubMed:2447486)Curated

    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 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

    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: October 1, 2014
    This is version 173 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