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Entry version 147 (07 Oct 2020)
Sequence version 2 (16 Jun 2009)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

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).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei400Stutter1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
O95678

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6805567, Keratinization
R-HSA-6809371, Formation of the cornified envelope

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KRT75
Synonyms:K6HF, KB18
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000170454.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24431, KRT75

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609025, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95678

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Intermediate filament, Keratin

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_038104337E → K in LAHS. 1 PublicationCorresponds to variant dbSNP:rs2232398Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9119

MalaCards human disease database

More...
MalaCardsi
KRT75
MIMi600628, phenotype
612318, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000170454

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA147357763

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
O95678, Tbio

Protein family/group databases

Allergome; a platform for allergen knowledge

More...
Allergomei
415, Hom s 5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KRT75

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003148871 – 551Keratin, type II cytoskeletal 75Add BLAST551

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95678

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95678

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95678

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95678

PeptideAtlas

More...
PeptideAtlasi
O95678

PRoteomics IDEntifications database

More...
PRIDEi
O95678

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
50995

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95678

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O95678

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O95678

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000170454, Expressed in hair follicle and 49 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95678, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000170454, Group enriched (skin, tongue)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

O95678
With#Exp.IntAct
ABI2 - isoform 2 [Q9NYB9-2]3EBI-2949715,EBI-11096309
AMOT [A2BDD9]3EBI-2949715,EBI-17286414
ANKS1A [Q49AR9]3EBI-2949715,EBI-11954519
ARMC7 [Q9H6L4]3EBI-2949715,EBI-742909
ASB15 [Q8WXK1]3EBI-2949715,EBI-12809012
BCAS2 [O75934]3EBI-2949715,EBI-1050106
BEX2 [Q9BXY8]3EBI-2949715,EBI-745073
C19orf25 [Q9UFG5]3EBI-2949715,EBI-741214
C1orf109 [Q9NX04]3EBI-2949715,EBI-8643161
C1orf216 [Q8TAB5]3EBI-2949715,EBI-747505
C2CD6 [Q53TS8]3EBI-2949715,EBI-739879
CAMK2A [Q9UQM7]3EBI-2949715,EBI-1383687
CARD10 [Q9BWT7]3EBI-2949715,EBI-3866279
CARD9 - isoform 2 [Q9H257-2]3EBI-2949715,EBI-11530605
CCDC102B [Q68D86]3EBI-2949715,EBI-10171570
CCDC197 [Q8NCU1]3EBI-2949715,EBI-750686
CCHCR1 - isoform 3 [Q8TD31-3]3EBI-2949715,EBI-10175300
CDC37 [Q16543]3EBI-2949715,EBI-295634
CDK18 [Q07002]3EBI-2949715,EBI-746238
CDKN2D [P55273]3EBI-2949715,EBI-745859
CEP57 - isoform 3 [Q86XR8-3]3EBI-2949715,EBI-11752486
CFAP206 [Q8IYR0]3EBI-2949715,EBI-749051
CPNE7 - isoform 2 [Q9UBL6-2]3EBI-2949715,EBI-12012272
CRACR2A [Q9BSW2]3EBI-2949715,EBI-739773
DES [P17661]3EBI-2949715,EBI-1055572
DHX15 [O43143]3EBI-2949715,EBI-1237044
DMAP1 [Q9NPF5]3EBI-2949715,EBI-399105
DTNBP1 [Q96EV8]3EBI-2949715,EBI-465804
DYDC1 [Q8WWB3]3EBI-2949715,EBI-740680
EFHC1 [Q5JVL4]3EBI-2949715,EBI-743105
EPM2AIP1 [Q7L775]3EBI-2949715,EBI-6255981
FBXO17 [Q96EF6]3EBI-2949715,EBI-2510157
FKBP6 [O75344]3EBI-2949715,EBI-744771
GLYCTK [Q8IVS8]3EBI-2949715,EBI-748515
GMCL1 [Q96IK5]3EBI-2949715,EBI-2548508
GOLGA2 [Q08379]3EBI-2949715,EBI-618309
GOLGA6L9 [A6NEM1]3EBI-2949715,EBI-5916454
GPANK1 [O95872]3EBI-2949715,EBI-751540
hCG_1987119 [A0A024R8L2]3EBI-2949715,EBI-14103818
HGS [O14964]3EBI-2949715,EBI-740220
HNRNPF [P52597]3EBI-2949715,EBI-352986
INCA1 [Q0VD86]3EBI-2949715,EBI-6509505
IQUB [Q8NA54]3EBI-2949715,EBI-10220600
KANK2 [Q63ZY3]3EBI-2949715,EBI-2556193
KCTD7 - isoform 2 [Q96MP8-2]3EBI-2949715,EBI-11954971
KIF9 [Q9HAQ2]3EBI-2949715,EBI-8472129
KIFC3 - isoform 4 [Q9BVG8-5]3EBI-2949715,EBI-14069005
KRT13 [P13646]3EBI-2949715,EBI-1223876
KRT15 [P19012]3EBI-2949715,EBI-739566
KRT19 [P08727]3EBI-2949715,EBI-742756
KRT20 [P35900]3EBI-2949715,EBI-742094
KRT24 [Q2M2I5]3EBI-2949715,EBI-2952736
KRT25 [Q7Z3Z0]3EBI-2949715,EBI-11980019
KRT26 [Q7Z3Y9]3EBI-2949715,EBI-12084444
KRT27 [Q7Z3Y8]3EBI-2949715,EBI-3044087
KRT3 [P12035]3EBI-2949715,EBI-2430095
KRT31 [Q15323]3EBI-2949715,EBI-948001
KRT33B [Q14525]3EBI-2949715,EBI-1049638
KRT34 [O76011]4EBI-2949715,EBI-1047093
KRT35 [Q92764]3EBI-2949715,EBI-1058674
KRT36 - isoform 2 [O76013-2]5EBI-2949715,EBI-11958506
KRT37 [O76014]3EBI-2949715,EBI-1045716
KRT38 [O76015]3EBI-2949715,EBI-1047263
KRT40 [Q6A162]3EBI-2949715,EBI-10171697
KRT76 [Q01546]3EBI-2949715,EBI-2952745
LCA5L [O95447]3EBI-2949715,EBI-8473670
LMO1 [P25800]3EBI-2949715,EBI-8639312
LMO2 - isoform 3 [P25791-3]3EBI-2949715,EBI-11959475
LMO4 [P61968]3EBI-2949715,EBI-2798728
LONRF1 [Q17RB8]3EBI-2949715,EBI-2341787
MAGOHB [Q96A72]3EBI-2949715,EBI-746778
MID2 - isoform 2 [Q9UJV3-2]3EBI-2949715,EBI-10172526
MKRN3 [Q13064]3EBI-2949715,EBI-2340269
MNS1 [Q8NEH6]3EBI-2949715,EBI-743811
MTUS2 - isoform 2 [Q5JR59-3]3EBI-2949715,EBI-11522433
MYOZ3 [Q8TDC0]3EBI-2949715,EBI-5662487
NCDN [Q9UBB6]3EBI-2949715,EBI-1053490
NDC80 [O14777]3EBI-2949715,EBI-715849
NEK6 - isoform 4 [Q9HC98-4]3EBI-2949715,EBI-11750983
NFKBID [Q8NI38]6EBI-2949715,EBI-10271199
NME7 [Q9Y5B8]3EBI-2949715,EBI-744782
NUDT21 [O43809]3EBI-2949715,EBI-355720
NUP62 [P37198]5EBI-2949715,EBI-347978
OIP5 [O43482]5EBI-2949715,EBI-536879
OSGIN1 [Q9UJX0]3EBI-2949715,EBI-9057006
PLEKHG4 [Q58EX7]3EBI-2949715,EBI-949255
PM20D2 [Q8IYS1]3EBI-2949715,EBI-11339910
POLR1C [O15160]3EBI-2949715,EBI-1055079
POLR3C [Q9BUI4]3EBI-2949715,EBI-5452779
PRPH [P41219]3EBI-2949715,EBI-752074
RCOR3 - isoform 2 [Q9P2K3-2]3EBI-2949715,EBI-1504830
RSPH14 [Q9UHP6]4EBI-2949715,EBI-748350
SCNM1 [Q9BWG6]3EBI-2949715,EBI-748391
SMARCD1 [Q96GM5]3EBI-2949715,EBI-358489
SPAG5 [Q96R06]3EBI-2949715,EBI-413317
SPTA1 [P02549]3EBI-2949715,EBI-375617
STX11 [O75558]3EBI-2949715,EBI-714135
SUFU [Q9UMX1]3EBI-2949715,EBI-740595
TBC1D1 [Q86TI0]3EBI-2949715,EBI-1644036
TCHP [Q9BT92]3EBI-2949715,EBI-740781
TEKT1 [Q969V4]3EBI-2949715,EBI-10180409
TEKT4 [Q8WW24]3EBI-2949715,EBI-750487
TJAP1 [Q5JTD0]3EBI-2949715,EBI-2814077
TNPO2 - isoform 2 [O14787-2]3EBI-2949715,EBI-12076664
TNPO3 [Q9Y5L0]3EBI-2949715,EBI-1042571
TRAF1 [Q13077]3EBI-2949715,EBI-359224
TRIM23 [P36406]3EBI-2949715,EBI-740098
TRIM27 [P14373]3EBI-2949715,EBI-719493
TRIM54 [Q9BYV2]3EBI-2949715,EBI-2130429
TRIML2 [Q8N7C3]3EBI-2949715,EBI-11059915
TSG101 [Q99816]3EBI-2949715,EBI-346882
TSSK3 [Q96PN8]3EBI-2949715,EBI-3918381
TXLNA [P40222]3EBI-2949715,EBI-359793
TXLNB [Q8N3L3]3EBI-2949715,EBI-6116822
U2AF1L5 [P0DN76]3EBI-2949715,EBI-14082807
USHBP1 [Q8N6Y0]3EBI-2949715,EBI-739895
VIM [P08670]3EBI-2949715,EBI-353844
WASHC3 [Q9Y3C0]3EBI-2949715,EBI-712969
WWOX - isoform 5 [Q9NZC7-5]3EBI-2949715,EBI-12040603
XPOT [O43592]3EBI-2949715,EBI-286683
ZNF76 [P36508]3EBI-2949715,EBI-7254550
ZWINT [O95229]3EBI-2949715,EBI-1001132

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
114567, 146 interactors

Protein interaction database and analysis system

More...
IntActi
O95678, 144 interactors

Molecular INTeraction database

More...
MINTi
O95678

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000252245

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
O95678, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O95678

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini149 – 462IF rodPROSITE-ProRule annotationAdd BLAST314

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 148HeadAdd BLAST148
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
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi39 – 120Gly-richAdd BLAST82

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502RTYA, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155862

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012560_6_1_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O95678

KEGG Orthology (KO)

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KOi
K07605

Identification of Orthologs from Complete Genome Data

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OMAi
GCGSNFR

Database of Orthologous Groups

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OrthoDBi
824246at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O95678

TreeFam database of animal gene trees

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TreeFami
TF317854

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR018039, IF_conserved
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
IPR032444, Keratin_2_head
IPR003054, Keratin_II

Pfam protein domain database

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Pfami
View protein in Pfam
PF00038, Filament, 1 hit
PF16208, Keratin_2_head, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01276, TYPE2KERATIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01391, Filament, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00226, IF_ROD_1, 1 hit
PS51842, IF_ROD_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9099CD53A0BAF1EB
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti284I → S in CAA76730 (PubMed:9856802).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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 dbSNP:rs2232384Ensembl.1
Natural variantiVAR_03809991R → G2 PublicationsCorresponds to variant dbSNP:rs298109Ensembl.1
Natural variantiVAR_038100117P → A. Corresponds to variant dbSNP:rs2232386Ensembl.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 dbSNP:rs2232387EnsemblClinVar.1
Natural variantiVAR_038102209R → Q. Corresponds to variant dbSNP:rs2232390Ensembl.1
Natural variantiVAR_038103242E → G. Corresponds to variant dbSNP:rs2232393Ensembl.1
Natural variantiVAR_038104337E → K in LAHS. 1 PublicationCorresponds to variant dbSNP:rs2232398Ensembl.1
Natural variantiVAR_038105367I → V. Corresponds to variant dbSNP:rs2232402EnsemblClinVar.1
Natural variantiVAR_038106427M → T. Corresponds to variant dbSNP:rs2232405Ensembl.1
Natural variantiVAR_038107432R → C. Corresponds to variant dbSNP:rs2232406Ensembl.1
Natural variantiVAR_038108485S → R2 PublicationsCorresponds to variant dbSNP:rs298104Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS8827.1

NCBI Reference Sequences

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RefSeqi
NP_004684.2, NM_004693.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000252245; ENSP00000252245; ENSG00000170454

Database of genes from NCBI RefSeq genomes

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GeneIDi
9119

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9119

UCSC genome browser

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UCSCi
uc001saj.3, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

SMRiO95678
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114567, 146 interactors
IntActiO95678, 144 interactors
MINTiO95678
STRINGi9606.ENSP00000252245

Protein family/group databases

Allergomei415, Hom s 5

PTM databases

iPTMnetiO95678
PhosphoSitePlusiO95678
SwissPalmiO95678

Polymorphism and mutation databases

BioMutaiKRT75

Proteomic databases

EPDiO95678
jPOSTiO95678
MassIVEiO95678
PaxDbiO95678
PeptideAtlasiO95678
PRIDEiO95678
ProteomicsDBi50995

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
14610, 157 antibodies

The DNASU plasmid repository

More...
DNASUi
9119

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9119
DisGeNETi9119
EuPathDBiHostDB:ENSG00000170454.5

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KRT75
HGNCiHGNC:24431, KRT75
HPAiENSG00000170454, Group enriched (skin, tongue)
MalaCardsiKRT75
MIMi600628, phenotype
609025, gene
612318, phenotype
neXtProtiNX_O95678
OpenTargetsiENSG00000170454
PharmGKBiPA147357763

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502RTYA, Eukaryota
GeneTreeiENSGT00940000155862
HOGENOMiCLU_012560_6_1_1
InParanoidiO95678
KOiK07605
OMAiGCGSNFR
OrthoDBi824246at2759
PhylomeDBiO95678
TreeFamiTF317854

Enzyme and pathway databases

PathwayCommonsiO95678
ReactomeiR-HSA-6805567, Keratinization
R-HSA-6809371, Formation of the cornified envelope

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
9119, 5 hits in 862 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KRT75, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9119
PharosiO95678, Tbio

Protein Ontology

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PROi
PR:O95678
RNActiO95678, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000170454, Expressed in hair follicle and 49 other tissues
GenevisibleiO95678, HS

Family and domain databases

Gene3Di1.20.5.1160, 1 hit
InterProiView protein in InterPro
IPR018039, IF_conserved
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
IPR032444, Keratin_2_head
IPR003054, Keratin_II
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiK2C75_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95678
Secondary accession number(s): B4DQU4, Q9NSA9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: June 16, 2009
Last modified: October 7, 2020
This is version 147 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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