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Protein

Keratin, type II cytoskeletal 5

Gene

KRT5

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

Functioni

Miscellaneous

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei419Stutter1

GO - Molecular functioni

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

GO - Biological processi

  • cornification Source: Reactome
  • epidermis development Source: ProtInc
  • hemidesmosome assembly Source: Reactome
  • keratinization Source: Reactome

Enzyme and pathway databases

ReactomeiR-HSA-446107 Type I hemidesmosome assembly
R-HSA-6805567 Keratinization
R-HSA-6809371 Formation of the cornified envelope
SIGNORiP13647

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

EuPathDBiHostDB:ENSG00000186081.11
HGNCiHGNC:6442 KRT5
MIMi148040 gene
neXtProtiNX_P13647

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet.
See also OMIM:601001
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026537170E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs59115483EnsemblClinVar.1
Natural variantiVAR_026544418E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs121912476EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_071630165R → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607456EnsemblClinVar.1
Natural variantiVAR_027722168E → K in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs58619430EnsemblClinVar.1
Natural variantiVAR_027723169R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60720877EnsemblClinVar.1
Natural variantiVAR_010456175L → F in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57890479EnsemblClinVar.1
Natural variantiVAR_010457176N → S in DM-EBS. 3 PublicationsCorresponds to variant dbSNP:rs59092197EnsemblClinVar.1
Natural variantiVAR_010458179F → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57781042EnsemblClinVar.1
Natural variantiVAR_010459181S → P in DM-EBS; with laryngeal involvement. 1 PublicationCorresponds to variant dbSNP:rs60715293EnsemblClinVar.1
Natural variantiVAR_010466467I → T in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60271599EnsemblClinVar.1
Natural variantiVAR_027726469T → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60596287EnsemblClinVar.1
Natural variantiVAR_003877475E → G in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs61348633EnsemblClinVar.1
Natural variantiVAR_023728475E → K in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57155193EnsemblClinVar.1
Natural variantiVAR_010467477E → K in DM-EBS. 4 PublicationsCorresponds to variant dbSNP:rs59190510EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_010454152P → L in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60617604EnsemblClinVar.1
Natural variantiVAR_031641158D → V in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61222761EnsemblClinVar.1
Natural variantiVAR_003872161I → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58058996EnsemblClinVar.1
Natural variantiVAR_026536167E → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57378129EnsemblClinVar.1
Natural variantiVAR_026538177N → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61495052EnsemblClinVar.1
Natural variantiVAR_071631186V → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607457EnsemblClinVar.1
Natural variantiVAR_027724190E → K in WC-EBS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs58976397EnsemblClinVar.1
Natural variantiVAR_026539199K → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58766676EnsemblClinVar.1
Natural variantiVAR_026540311L → P in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59864957Ensembl.1
Natural variantiVAR_071632321T → P in WC-EBS. 1 Publication1
Natural variantiVAR_026541324V → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59335325EnsemblClinVar.1
Natural variantiVAR_010462327M → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58072617EnsemblClinVar.1
Natural variantiVAR_003874327M → T in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs58072617EnsemblClinVar.1
Natural variantiVAR_026542328D → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59464425EnsemblClinVar.1
Natural variantiVAR_026543328D → G in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57142010EnsemblClinVar.1
Natural variantiVAR_010463328D → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56790237EnsemblClinVar.1
Natural variantiVAR_010464328D → V in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57142010EnsemblClinVar.1
Natural variantiVAR_010465329N → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59730172EnsemblClinVar.1
Natural variantiVAR_003875331R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61297109EnsemblClinVar.1
Natural variantiVAR_027725331R → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56729325EnsemblClinVar.1
Natural variantiVAR_031644352R → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59112594EnsemblClinVar.1
Natural variantiVAR_023726404K → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60809982EnsemblClinVar.1
Natural variantiVAR_071633428A → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607458EnsemblClinVar.1
Natural variantiVAR_023727438A → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57845028EnsemblClinVar.1
Epidermolysis bullosa simplex, Koebner type (K-EBS)7 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)DescriptionActionsGraphical viewLength
Natural variantiVAR_031640143V → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59851104EnsemblClinVar.1
Natural variantiVAR_010455173K → N in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58163069EnsemblClinVar.1
Natural variantiVAR_013829186V → L in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs121912475EnsemblClinVar.1
Natural variantiVAR_031642186V → M in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs121912475EnsemblClinVar.1
Natural variantiVAR_031643191Q → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs57751134EnsemblClinVar.1
Natural variantiVAR_010460323V → A in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59840738EnsemblClinVar.1
Natural variantiVAR_010461325L → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58107458EnsemblClinVar.1
Natural variantiVAR_003876463L → P in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57599352EnsemblClinVar.1
Natural variantiVAR_031645517G → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58608695EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_01045325P → L in MP-EBS. 4 PublicationsCorresponds to variant dbSNP:rs57499817EnsemblClinVar.1
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

DisGeNETi3852
GeneReviewsiKRT5
MalaCardsiKRT5
MIMi131760 phenotype
131800 phenotype
131900 phenotype
131960 phenotype
179850 phenotype
601001 phenotype
609352 phenotype
OpenTargetsiENSG00000186081
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)DescriptionActionsGraphical viewLength
ChainiPRO_00000637271 – 590Keratin, type II cytoskeletal 5Add BLAST590

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei5PhosphoserineBy similarity1
Modified residuei8PhosphoserineBy similarity1
Modified residuei16PhosphoserineBy similarity1
Modified residuei21PhosphoserineBy similarity1
Modified residuei26PhosphoserineBy similarity1
Modified residuei36PhosphoserineBy similarity1
Modified residuei50PhosphoserineBy similarity1
Modified residuei64PhosphoserineBy similarity1
Modified residuei71PhosphoserineBy similarity1
Modified residuei75PhosphoserineBy similarity1
Modified residuei82PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiP13647
PeptideAtlasiP13647
PRIDEiP13647
ProteomicsDBi52954

PTM databases

iPTMnetiP13647
PhosphoSitePlusiP13647
SwissPalmiP13647

Expressioni

Gene expression databases

BgeeiENSG00000186081
CleanExiHS_KRT5
ExpressionAtlasiP13647 baseline and differential
GenevisibleiP13647 HS

Organism-specific databases

HPAiCAB000027
CAB000129
HPA059479

Interactioni

Subunit structurei

Heterodimer of a type I and a type II keratin. Heterodimer with type I keratin KRT25 leading to the formation of keratin intermediate filament (KIF) network (PubMed:28899683). Heterodimer with KRT14 (PubMed:22705788). Interacts with TCHP (PubMed:15731013). Interacts with EPPK1 (By similarity).By similarity3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • scaffold protein binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110050, 66 interactors
DIPiDIP-39N
IntActiP13647, 33 interactors
STRINGi9606.ENSP00000252242

Structurei

Secondary structure

1590
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi383 – 472Combined sources90

3D structure databases

ProteinModelPortaliP13647
SMRiP13647
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini168 – 481IF rodPROSITE-ProRule annotationAdd BLAST314

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 167HeadAdd BLAST167
Regioni168 – 203Coil 1AAdd BLAST36
Regioni204 – 222Linker 1Add BLAST19
Regioni223 – 315Coil 1BAdd BLAST93
Regioni316 – 338Linker 12Add BLAST23
Regioni339 – 477Coil 2Add BLAST139
Regioni478 – 590TailAdd BLAST113

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi39 – 139Gly-richAdd BLAST101
Compositional biasi528 – 590Ser-richAdd BLAST63

Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR001664 IF
IPR018039 IF_conserved
IPR039008 IF_rod_dom
IPR032444 Keratin_2_head
IPR003054 Keratin_II
PANTHERiPTHR23239 PTHR23239, 1 hit
PfamiView protein in Pfam
PF00038 Filament, 1 hit
PF16208 Keratin_2_head, 1 hit
PRINTSiPR01276 TYPE2KERATIN
SMARTiView protein in SMART
SM01391 Filament, 1 hit
PROSITEiView protein in PROSITE
PS00226 IF_ROD_1, 1 hit
PS51842 IF_ROD_2, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti9 – 11FRS → SGA (PubMed:2476664).Curated3
Sequence conflicti261E → Q in AAA36145 (PubMed:2447486).Curated1
Sequence conflicti271E → H in AAA36145 (PubMed:2447486).Curated1
Sequence conflicti375H → E (PubMed:2455002).Curated1
Sequence conflicti558G → S (PubMed:2476664).Curated1
Sequence conflicti558G → S in AAA36145 (PubMed:2447486).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01045325P → L in MP-EBS. 4 PublicationsCorresponds to variant dbSNP:rs57499817EnsemblClinVar.1
Natural variantiVAR_02876379S → R2 PublicationsCorresponds to variant dbSNP:rs1065115EnsemblClinVar.1
Natural variantiVAR_003871138G → E1 PublicationCorresponds to variant dbSNP:rs11170164EnsemblClinVar.1
Natural variantiVAR_031640143V → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59851104EnsemblClinVar.1
Natural variantiVAR_010454152P → L in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60617604EnsemblClinVar.1
Natural variantiVAR_031641158D → V in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61222761EnsemblClinVar.1
Natural variantiVAR_003872161I → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58058996EnsemblClinVar.1
Natural variantiVAR_071630165R → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607456EnsemblClinVar.1
Natural variantiVAR_026536167E → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57378129EnsemblClinVar.1
Natural variantiVAR_027722168E → K in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs58619430EnsemblClinVar.1
Natural variantiVAR_027723169R → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60720877EnsemblClinVar.1
Natural variantiVAR_026537170E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs59115483EnsemblClinVar.1
Natural variantiVAR_010455173K → N in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58163069EnsemblClinVar.1
Natural variantiVAR_010456175L → F in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57890479EnsemblClinVar.1
Natural variantiVAR_010457176N → S in DM-EBS. 3 PublicationsCorresponds to variant dbSNP:rs59092197EnsemblClinVar.1
Natural variantiVAR_026538177N → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61495052EnsemblClinVar.1
Natural variantiVAR_010458179F → S in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs57781042EnsemblClinVar.1
Natural variantiVAR_010459181S → P in DM-EBS; with laryngeal involvement. 1 PublicationCorresponds to variant dbSNP:rs60715293EnsemblClinVar.1
Natural variantiVAR_071631186V → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607457EnsemblClinVar.1
Natural variantiVAR_013829186V → L in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs121912475EnsemblClinVar.1
Natural variantiVAR_031642186V → M in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs121912475EnsemblClinVar.1
Natural variantiVAR_027724190E → K in WC-EBS; requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs58976397EnsemblClinVar.1
Natural variantiVAR_031643191Q → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs57751134EnsemblClinVar.1
Natural variantiVAR_003873193N → K in DM-EBS and WC-EBS. 3 PublicationsCorresponds to variant dbSNP:rs60586163EnsemblClinVar.1
Natural variantiVAR_028764197D → E2 PublicationsCorresponds to variant dbSNP:rs641615EnsemblClinVar.1
Natural variantiVAR_026539199K → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58766676EnsemblClinVar.1
Natural variantiVAR_028765232S → N. Corresponds to variant dbSNP:rs200333163Ensembl.1
Natural variantiVAR_026540311L → P in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59864957Ensembl.1
Natural variantiVAR_071632321T → P in WC-EBS. 1 Publication1
Natural variantiVAR_010460323V → A in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs59840738EnsemblClinVar.1
Natural variantiVAR_026541324V → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59335325EnsemblClinVar.1
Natural variantiVAR_010461325L → P in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58107458EnsemblClinVar.1
Natural variantiVAR_010462327M → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs58072617EnsemblClinVar.1
Natural variantiVAR_003874327M → T in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs58072617EnsemblClinVar.1
Natural variantiVAR_026542328D → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59464425EnsemblClinVar.1
Natural variantiVAR_026543328D → G in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57142010EnsemblClinVar.1
Natural variantiVAR_010463328D → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56790237EnsemblClinVar.1
Natural variantiVAR_010464328D → V in WC-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57142010EnsemblClinVar.1
Natural variantiVAR_010465329N → K in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59730172EnsemblClinVar.1
Natural variantiVAR_003875331R → C in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs61297109EnsemblClinVar.1
Natural variantiVAR_027725331R → H in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs56729325EnsemblClinVar.1
Natural variantiVAR_031644352R → S in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs59112594EnsemblClinVar.1
Natural variantiVAR_028766387S → T2 PublicationsCorresponds to variant dbSNP:rs2669875EnsemblClinVar.1
Natural variantiVAR_023726404K → E in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs60809982EnsemblClinVar.1
Natural variantiVAR_026544418E → K in EBSB1. 1 PublicationCorresponds to variant dbSNP:rs121912476EnsemblClinVar.1
Natural variantiVAR_071633428A → T in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs267607458EnsemblClinVar.1
Natural variantiVAR_023727438A → D in WC-EBS. 1 PublicationCorresponds to variant dbSNP:rs57845028EnsemblClinVar.1
Natural variantiVAR_003876463L → P in K-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57599352EnsemblClinVar.1
Natural variantiVAR_010466467I → T in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60271599EnsemblClinVar.1
Natural variantiVAR_027726469T → P in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs60596287EnsemblClinVar.1
Natural variantiVAR_003877475E → G in DM-EBS. 1 PublicationCorresponds to variant dbSNP:rs61348633EnsemblClinVar.1
Natural variantiVAR_023728475E → K in DM-EBS. 2 PublicationsCorresponds to variant dbSNP:rs57155193EnsemblClinVar.1
Natural variantiVAR_010467477E → K in DM-EBS. 4 PublicationsCorresponds to variant dbSNP:rs59190510EnsemblClinVar.1
Natural variantiVAR_031645517G → D in K-EBS. 1 PublicationCorresponds to variant dbSNP:rs58608695EnsemblClinVar.1
Natural variantiVAR_028767528S → G1 PublicationCorresponds to variant dbSNP:rs11549950EnsemblClinVar.1
Natural variantiVAR_028768543G → S2 PublicationsCorresponds to variant dbSNP:rs11549949EnsemblClinVar.1

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

Similar proteinsi

Entry informationi

Entry nameiK2C5_HUMAN
AccessioniPrimary (citable) accession number: P13647
Secondary accession number(s): Q6PI71, Q6UBJ0, Q8TA91
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: April 3, 2007
Last modified: July 18, 2018
This is version 212 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, 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

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