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Protein

Keratin, type II cytoskeletal 75

Gene

KRT75

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

Functioni

Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei400Stutter1

GO - Molecular functioni

  • structural molecule activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170454-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 75
Alternative name(s):
Cytokeratin-75
Short name:
CK-75
Keratin-6 hair follicle
Short name:
hK6hf
Keratin-75
Short name:
K75
Type II keratin-K6hf
Type-II keratin Kb18
Gene namesi
Name:KRT75
Synonyms:K6HF, KB18
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:24431. KRT75.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • intermediate filament Source: CACAO
  • keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Loose anagen hair syndrome (LAHS)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionIn LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage.
See also OMIM:600628
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038104337E → K in LAHS. 1 PublicationCorresponds to variant rs2232398dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9119.
MalaCardsiKRT75.
MIMi600628. phenotype.
612318. phenotype.
OpenTargetsiENSG00000170454.
PharmGKBiPA147357763.

Protein family/group databases

Allergomei415. Hom s 5.

Polymorphism and mutation databases

BioMutaiKRT75.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148871 – 551Keratin, type II cytoskeletal 75Add BLAST551

Proteomic databases

EPDiO95678.
PaxDbiO95678.
PeptideAtlasiO95678.
PRIDEiO95678.

PTM databases

iPTMnetiO95678.
PhosphoSitePlusiO95678.
SwissPalmiO95678.

Expressioni

Tissue specificityi

Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level).4 Publications

Gene expression databases

BgeeiENSG00000170454.
CleanExiHS_KRT75.
GenevisibleiO95678. HS.

Organism-specific databases

HPAiHPA019367.

Interactioni

Subunit structurei

Heterodimer of a type I and a type II keratin. May associate with KRT17.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
WHAMMP3Q1A5X74EBI-2949715,EBI-11956783

Protein-protein interaction databases

BioGridi114567. 19 interactors.
IntActiO95678. 109 interactors.
STRINGi9606.ENSP00000252245.

Structurei

3D structure databases

ProteinModelPortaliO95678.
SMRiO95678.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 148HeadAdd BLAST148
Regioni149 – 458RodAdd BLAST310
Regioni149 – 184Coil 1AAdd BLAST36
Regioni185 – 203Linker 1Add BLAST19
Regioni204 – 296Coil 1BAdd BLAST93
Regioni297 – 319Linker 12Add BLAST23
Regioni320 – 458Coil 2Add BLAST139
Regioni459 – 551TailAdd BLAST93

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi39 – 120Gly-richAdd BLAST82

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IG4R. Eukaryota.
ENOG410YY6B. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiO95678.
KOiK07605.
OMAiRQSTITF.
OrthoDBiEOG091G09KR.
PhylomeDBiO95678.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
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.

O95678-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRQSSITFQ SGSRRGFSTT SAITPAAGRS RFSSVSVARS AAGSGGLGRI
60 70 80 90 100
SSAGASFGSR SLYNLGGAKR VSINGCGSSC RSGFGGRASN RFGVNSGFGY
110 120 130 140 150
GGGVGGGFSG PSFPVCPPGG IQEVTVNQSL LTPLHLQIDP TIQRVRAEER
160 170 180 190 200
EQIKTLNNKF ASFIDKVRFL EQQNKVLETK WALLQEQGSR TVRQNLEPLF
210 220 230 240 250
DSYTSELRRQ LESITTERGR LEAELRNMQD VVEDFKVRYE DEINKRTAAE
260 270 280 290 300
NEFVALKKDV DAAYMNKVEL EAKVKSLPEE INFIHSVFDA ELSQLQTQVG
310 320 330 340 350
DTSVVLSMDN NRNLDLDSII AEVKAQYEDI ANRSRAEAES WYQTKYEELQ
360 370 380 390 400
VTAGRHGDDL RNTKQEISEM NRMIQRLRAE IDSVKKQCSS LQTAIADAEQ
410 420 430 440 450
RGELALKDAR AKLVDLEEAL QKAKQDMARL LREYQELMNI KLALDVEIAT
460 470 480 490 500
YRKLLEGEEC RLSGEGVSPV NISVVTSTLS SGYGSGSSIG GGNLGLGGGS
510 520 530 540 550
GYSFTTSGGH SLGAGLGGSG FSATSNRGLG GSGSSVKFVS TTSSSQKSYT

H
Length:551
Mass (Da):59,560
Last modified:June 16, 2009 - v2
Checksum:i9099CD53A0BAF1EB
GO

Sequence cautioni

The sequence BAG61056 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti284I → S in CAA76730 (PubMed:9856802).Curated1

Polymorphismi

The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIMi:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03809839R → C.Corresponds to variant rs2232384dbSNPEnsembl.1
Natural variantiVAR_03809991R → G.2 PublicationsCorresponds to variant rs298109dbSNPEnsembl.1
Natural variantiVAR_038100117P → A.Corresponds to variant rs2232386dbSNPEnsembl.1
Natural variantiVAR_038101161A → T Common polymorphism; may increase risk to develop PFB; the variant is disruptive at late stages of filament assembly compromising the aggregation of keratin molecules into intermediate filaments. 1 PublicationCorresponds to variant rs2232387dbSNPEnsembl.1
Natural variantiVAR_038102209R → Q.Corresponds to variant rs2232390dbSNPEnsembl.1
Natural variantiVAR_038103242E → G.Corresponds to variant rs2232393dbSNPEnsembl.1
Natural variantiVAR_038104337E → K in LAHS. 1 PublicationCorresponds to variant rs2232398dbSNPEnsembl.1
Natural variantiVAR_038105367I → V.Corresponds to variant rs2232402dbSNPEnsembl.1
Natural variantiVAR_038106427M → T.Corresponds to variant rs2232405dbSNPEnsembl.1
Natural variantiVAR_038107432R → C.Corresponds to variant rs2232406dbSNPEnsembl.1
Natural variantiVAR_038108485S → R.2 PublicationsCorresponds to variant rs298104dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17282 mRNA. Translation: CAA76730.1.
Y19212 Genomic DNA. Translation: CAB76832.1.
AK298960 mRNA. Translation: BAG61056.1. Different initiation.
AC055736 mRNA. No translation available.
CCDSiCCDS8827.1.
RefSeqiNP_004684.2. NM_004693.2.
UniGeneiHs.697046.

Genome annotation databases

EnsembliENST00000252245; ENSP00000252245; ENSG00000170454.
GeneIDi9119.
KEGGihsa:9119.
UCSCiuc001saj.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17282 mRNA. Translation: CAA76730.1.
Y19212 Genomic DNA. Translation: CAB76832.1.
AK298960 mRNA. Translation: BAG61056.1. Different initiation.
AC055736 mRNA. No translation available.
CCDSiCCDS8827.1.
RefSeqiNP_004684.2. NM_004693.2.
UniGeneiHs.697046.

3D structure databases

ProteinModelPortaliO95678.
SMRiO95678.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114567. 19 interactors.
IntActiO95678. 109 interactors.
STRINGi9606.ENSP00000252245.

Protein family/group databases

Allergomei415. Hom s 5.

PTM databases

iPTMnetiO95678.
PhosphoSitePlusiO95678.
SwissPalmiO95678.

Polymorphism and mutation databases

BioMutaiKRT75.

Proteomic databases

EPDiO95678.
PaxDbiO95678.
PeptideAtlasiO95678.
PRIDEiO95678.

Protocols and materials databases

DNASUi9119.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000252245; ENSP00000252245; ENSG00000170454.
GeneIDi9119.
KEGGihsa:9119.
UCSCiuc001saj.3. human.

Organism-specific databases

CTDi9119.
DisGeNETi9119.
GeneCardsiKRT75.
H-InvDBHIX0036863.
HGNCiHGNC:24431. KRT75.
HPAiHPA019367.
MalaCardsiKRT75.
MIMi600628. phenotype.
609025. gene.
612318. phenotype.
neXtProtiNX_O95678.
OpenTargetsiENSG00000170454.
PharmGKBiPA147357763.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG4R. Eukaryota.
ENOG410YY6B. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiO95678.
KOiK07605.
OMAiRQSTITF.
OrthoDBiEOG091G09KR.
PhylomeDBiO95678.
TreeFamiTF317854.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000170454-MONOMER.
ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GenomeRNAii9119.
PROiO95678.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170454.
CleanExiHS_KRT75.
GenevisibleiO95678. HS.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
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 nameiK2C75_HUMAN
AccessioniPrimary (citable) accession number: O95678
Secondary accession number(s): B4DQU4, Q9NSA9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 16, 2009
Last modified: November 30, 2016
This is version 122 of the entry and version 2 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

May be used as a marker of hair differentiation.
There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Keywords - Technical termi

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. 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.