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Protein

Keratin, type II cytoskeletal 5

Gene

KRT5

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

Functioni

Sites

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

GO - Molecular functioni

  • scaffold protein binding Source: BHF-UCL
  • structural constituent of cytoskeleton Source: ProtInc

GO - Biological processi

  • epidermis development Source: ProtInc
  • hemidesmosome assembly Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-446107. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:6442. KRT5.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • intermediate filament Source: BHF-UCL
  • keratin filament Source: MGI
  • membrane Source: UniProtKB
  • mitochondrion Source: Ensembl
  • nucleus Source: UniProtKB
  • 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)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement.
See also OMIM:131760
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651R → S in DM-EBS. 1 Publication
Corresponds to variant rs267607456 [ dbSNP | Ensembl ].
VAR_071630
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. 3 Publications
Corresponds to variant rs60586163 [ dbSNP | Ensembl ].
VAR_003873
Natural varianti467 – 4671I → T in DM-EBS. 1 Publication
Corresponds to variant rs60271599 [ dbSNP | Ensembl ].
VAR_010466
Natural varianti469 – 4691T → P in DM-EBS. 1 Publication
Corresponds to variant rs60596287 [ dbSNP | Ensembl ].
VAR_027726
Natural varianti475 – 4751E → G in DM-EBS. 1 Publication
Corresponds to variant rs61348633 [ dbSNP | Ensembl ].
VAR_003877
Natural varianti475 – 4751E → K in DM-EBS. 2 Publications
Corresponds to variant rs57155193 [ dbSNP | Ensembl ].
VAR_023728
Natural varianti477 – 4771E → K in DM-EBS. 4 Publications
Corresponds to variant rs59190510 [ dbSNP | Ensembl ].
VAR_010467
Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609352
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin.
See also OMIM:131800
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 varianti186 – 1861V → E in WC-EBS. 1 Publication
Corresponds to variant rs267607457 [ dbSNP | Ensembl ].
VAR_071631
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. 3 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
Corresponds to variant rs59864957 [ dbSNP | Ensembl ].
VAR_026540
Natural varianti321 – 3211T → P in WC-EBS. 1 Publication
VAR_071632
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
Corresponds to variant rs58072617 [ dbSNP | Ensembl ].
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
Corresponds to variant rs57142010 [ dbSNP | Ensembl ].
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. 2 Publications
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
Corresponds to variant rs61297109 [ dbSNP | Ensembl ].
VAR_003875
Natural varianti331 – 3311R → H in WC-EBS. 1 Publication
Corresponds to variant rs56729325 [ dbSNP | Ensembl ].
VAR_027725
Natural varianti352 – 3521R → S in WC-EBS. 1 Publication
Corresponds to variant rs59112594 [ dbSNP | Ensembl ].
VAR_031644
Natural varianti404 – 4041K → E in WC-EBS. 1 Publication
Corresponds to variant rs60809982 [ dbSNP | Ensembl ].
VAR_023726
Natural varianti428 – 4281A → T in WC-EBS. 1 Publication
Corresponds to variant rs267607458 [ dbSNP | Ensembl ].
VAR_071633
Natural varianti438 – 4381A → D in WC-EBS. 1 Publication
Corresponds to variant rs57845028 [ dbSNP | Ensembl ].
VAR_023727
Epidermolysis bullosa simplex, Koebner type (K-EBS)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:131900
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
Corresponds to variant rs121912475 [ dbSNP | Ensembl ].
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
Corresponds to variant rs121912476 [ dbSNP | Ensembl ].
VAR_026544
Natural varianti463 – 4631L → P in K-EBS. 2 Publications
Corresponds to variant rs57599352 [ dbSNP | Ensembl ].
VAR_003876
Natural varianti517 – 5171G → D in K-EBS. 1 Publication
Corresponds to variant rs58608695 [ dbSNP | Ensembl ].
VAR_031645
Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:131960
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251P → L in MP-EBS. 4 Publications
Corresponds to variant rs57499817 [ dbSNP | Ensembl ].
VAR_010453
Dowling-Degos disease 1 (DDD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:179850

Keywords - Diseasei

Disease mutation, Epidermolysis bullosa

Organism-specific databases

MalaCardsiKRT5.
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.

Polymorphism and mutation databases

BioMutaiKRT5.
DMDMi143811411.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei5 – 51PhosphoserineBy similarity
Modified residuei8 – 81PhosphoserineBy similarity
Modified residuei16 – 161PhosphoserineBy similarity
Modified residuei21 – 211PhosphoserineBy similarity
Modified residuei26 – 261PhosphoserineBy similarity
Modified residuei36 – 361PhosphoserineBy similarity
Modified residuei50 – 501PhosphoserineBy similarity
Modified residuei64 – 641PhosphoserineBy similarity
Modified residuei71 – 711PhosphoserineBy similarity
Modified residuei75 – 751PhosphoserineBy similarity
Modified residuei82 – 821PhosphoserineBy similarity
Cross-linki276 – 276Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP13647.
PaxDbiP13647.
PeptideAtlasiP13647.
PRIDEiP13647.

PTM databases

iPTMnetiP13647.
PhosphoSiteiP13647.
SwissPalmiP13647.

Expressioni

Gene expression databases

BgeeiENSG00000186081.
CleanExiHS_KRT5.
ExpressionAtlasiP13647. baseline and differential.
GenevisibleiP13647. HS.

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
KIFC3Q9BVG83EBI-702187,EBI-2125614
KRT15P190123EBI-702187,EBI-739566
KRT31Q153233EBI-702187,EBI-948001
KRT38O760153EBI-702187,EBI-1047263
KRT40Q6A1623EBI-702187,EBI-10171697
PKP1Q13835-22EBI-702187,EBI-9087684

GO - Molecular functioni

  • scaffold protein binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110050. 60 interactions.
DIPiDIP-39N.
IntActiP13647. 25 interactions.
STRINGi9606.ENSP00000252242.

Structurei

Secondary structure

1
590
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi383 – 47290Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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

eggNOGiENOG410IG4R. Eukaryota.
ENOG410YY6B. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP13647.
KOiK07605.
OMAiMHTHISD.
OrthoDBiEOG091G09KR.
PhylomeDBiP13647.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 2 hits.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P13647-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRQSSVSFR SGGSRSFSTA SAITPSVSRT SFTSVSRSGG GGGGGFGRVS
60 70 80 90 100
LAGACGVGGY GSRSLYNLGG SKRISISTSG GSFRNRFGAG AGGGYGFGGG
110 120 130 140 150
AGSGFGFGGG AGGGFGLGGG AGFGGGFGGP GFPVCPPGGI QEVTVNQSLL
160 170 180 190 200
TPLNLQIDPS IQRVRTEERE QIKTLNNKFA SFIDKVRFLE QQNKVLDTKW
210 220 230 240 250
TLLQEQGTKT VRQNLEPLFE QYINNLRRQL DSIVGERGRL DSELRNMQDL
260 270 280 290 300
VEDFKNKYED EINKRTTAEN EFVMLKKDVD AAYMNKVELE AKVDALMDEI
310 320 330 340 350
NFMKMFFDAE LSQMQTHVSD TSVVLSMDNN RNLDLDSIIA EVKAQYEEIA
360 370 380 390 400
NRSRTEAESW YQTKYEELQQ TAGRHGDDLR NTKHEISEMN RMIQRLRAEI
410 420 430 440 450
DNVKKQCANL QNAIADAEQR GELALKDARN KLAELEEALQ KAKQDMARLL
460 470 480 490 500
REYQELMNTK LALDVEIATY RKLLEGEECR LSGEGVGPVN ISVVTSSVSS
510 520 530 540 550
GYGSGSGYGG GLGGGLGGGL GGGLAGGSSG SYYSSSSGGV GLGGGLSVGG
560 570 580 590
SGFSASSGRG LGVGFGSGGG SSSSVKFVST TSSSRKSFKS
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. 4 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 varianti165 – 1651R → S in DM-EBS. 1 Publication
Corresponds to variant rs267607456 [ dbSNP | Ensembl ].
VAR_071630
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 → E in WC-EBS. 1 Publication
Corresponds to variant rs267607457 [ dbSNP | Ensembl ].
VAR_071631
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
Corresponds to variant rs121912475 [ dbSNP | Ensembl ].
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. 3 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
Corresponds to variant rs59864957 [ dbSNP | Ensembl ].
VAR_026540
Natural varianti321 – 3211T → P in WC-EBS. 1 Publication
VAR_071632
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
Corresponds to variant rs58072617 [ dbSNP | Ensembl ].
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
Corresponds to variant rs57142010 [ dbSNP | Ensembl ].
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. 2 Publications
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
Corresponds to variant rs61297109 [ dbSNP | Ensembl ].
VAR_003875
Natural varianti331 – 3311R → H in WC-EBS. 1 Publication
Corresponds to variant rs56729325 [ dbSNP | Ensembl ].
VAR_027725
Natural varianti352 – 3521R → S in WC-EBS. 1 Publication
Corresponds to variant rs59112594 [ dbSNP | Ensembl ].
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
Corresponds to variant rs60809982 [ dbSNP | Ensembl ].
VAR_023726
Natural varianti418 – 4181E → K in K-EBS. 1 Publication
Corresponds to variant rs121912476 [ dbSNP | Ensembl ].
VAR_026544
Natural varianti428 – 4281A → T in WC-EBS. 1 Publication
Corresponds to variant rs267607458 [ dbSNP | Ensembl ].
VAR_071633
Natural varianti438 – 4381A → D in WC-EBS. 1 Publication
Corresponds to variant rs57845028 [ dbSNP | Ensembl ].
VAR_023727
Natural varianti463 – 4631L → P in K-EBS. 2 Publications
Corresponds to variant rs57599352 [ dbSNP | Ensembl ].
VAR_003876
Natural varianti467 – 4671I → T in DM-EBS. 1 Publication
Corresponds to variant rs60271599 [ dbSNP | Ensembl ].
VAR_010466
Natural varianti469 – 4691T → P in DM-EBS. 1 Publication
Corresponds to variant rs60596287 [ dbSNP | Ensembl ].
VAR_027726
Natural varianti475 – 4751E → G in DM-EBS. 1 Publication
Corresponds to variant rs61348633 [ dbSNP | Ensembl ].
VAR_003877
Natural varianti475 – 4751E → K in DM-EBS. 2 Publications
Corresponds to variant rs57155193 [ dbSNP | Ensembl ].
VAR_023728
Natural varianti477 – 4771E → K in DM-EBS. 4 Publications
Corresponds to variant rs59190510 [ dbSNP | Ensembl ].
VAR_010467
Natural varianti517 – 5171G → D in K-EBS. 1 Publication
Corresponds to variant rs58608695 [ dbSNP | Ensembl ].
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:
EMBLi
GenBanki
DDBJi
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.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Human Intermediate Filament Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi110050. 60 interactions.
DIPiDIP-39N.
IntActiP13647. 25 interactions.
STRINGi9606.ENSP00000252242.

Protein family/group databases

Allergomei415. Hom s 5.

PTM databases

iPTMnetiP13647.
PhosphoSiteiP13647.
SwissPalmiP13647.

Polymorphism and mutation databases

BioMutaiKRT5.
DMDMi143811411.

Proteomic databases

MaxQBiP13647.
PaxDbiP13647.
PeptideAtlasiP13647.
PRIDEiP13647.

Protocols and materials databases

DNASUi3852.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252242; ENSP00000252242; ENSG00000186081.
GeneIDi3852.
KEGGihsa:3852.
UCSCiuc001san.4. human.

Organism-specific databases

CTDi3852.
GeneCardsiKRT5.
GeneReviewsiKRT5.
H-InvDBHIX0010655.
HGNCiHGNC:6442. KRT5.
HPAiCAB000027.
CAB000129.
HPA059479.
MalaCardsiKRT5.
MIMi131760. phenotype.
131800. phenotype.
131900. phenotype.
131960. phenotype.
148040. gene.
179850. phenotype.
609352. phenotype.
neXtProtiNX_P13647.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG4R. Eukaryota.
ENOG410YY6B. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiP13647.
KOiK07605.
OMAiMHTHISD.
OrthoDBiEOG091G09KR.
PhylomeDBiP13647.
TreeFamiTF317854.

Enzyme and pathway databases

ReactomeiR-HSA-446107. Type I hemidesmosome assembly.

Miscellaneous databases

ChiTaRSiKRT5. human.
GeneWikiiKeratin_5.
GenomeRNAii3852.
PROiP13647.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000186081.
CleanExiHS_KRT5.
ExpressionAtlasiP13647. baseline and differential.
GenevisibleiP13647. HS.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 2 hits.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 7, 2016
This is version 193 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.