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Protein

Keratin, type II cytoskeletal 74

Gene

KRT74

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

Functioni

Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei391Stutter1

GO - Molecular functioni

  • keratin filament binding Source: UniProtKB
  • structural molecule activity Source: InterPro

GO - Biological processi

  • intermediate filament cytoskeleton organization Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 74
Alternative name(s):
Cytokeratin-74
Short name:
CK-74
Keratin-5c
Short name:
K5C
Keratin-74
Short name:
K74
Type II inner root sheath-specific keratin-K6irs4
Type-II keratin Kb37
Gene namesi
Name:KRT74
Synonyms:K6IRS4, KB37, KRT5C, KRT6IRS4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:28929. KRT74.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Involvement in diseasei

Woolly hair autosomal dominant (ADWH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends.
See also OMIM:194300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063587148N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. 1 PublicationCorresponds to variant rs267607205dbSNPEnsembl.1
Hypotrichosis 3 (HYPT3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.
See also OMIM:613981
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065951482D → N in HYPT3. 1 PublicationCorresponds to variant rs267607477dbSNPEnsembl.1
Ectodermal dysplasia 7, hair/nail type (ECTD7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. Ectodermal dysplasia of the hair/nail type is characterized by hypotrichosis and nail dystrophy without non-ectodermal or other ectodermal manifestations.
See also OMIM:614929
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071383274F → S in ECTD7; autosomal recessive. 1 PublicationCorresponds to variant rs147962513dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia, Hypotrichosis

Organism-specific databases

DisGeNETi121391.
MalaCardsiKRT74.
MIMi194300. phenotype.
613981. phenotype.
614929. phenotype.
OpenTargetsiENSG00000170484.
Orphaneti90368. Hypotrichosis simplex of the scalp.
69084. Pure hair and nail ectodermal dysplasia.
170. Woolly hair.
PharmGKBiPA147357741.

Polymorphism and mutation databases

BioMutaiKRT74.
DMDMi166218812.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148851 – 529Keratin, type II cytoskeletal 74Add BLAST529

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei513PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ7RTS7.
PeptideAtlasiQ7RTS7.
PRIDEiQ7RTS7.

PTM databases

iPTMnetiQ7RTS7.
PhosphoSitePlusiQ7RTS7.
SwissPalmiQ7RTS7.

Expressioni

Tissue specificityi

Highly expressed in hair follicles from scalp. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS Huxley layer, but not in Henle layer or cuticle of the IRS. In the IRS Huxley layer, it is expressed in specialized Huxley cells, termed 'Fluegelzellen, along the area of differentiated Henle cells (at protein level).3 Publications

Gene expression databases

BgeeiENSG00000170484.
CleanExiHS_KRT74.
ExpressionAtlasiQ7RTS7. baseline and differential.
GenevisibleiQ7RTS7. HS.

Organism-specific databases

HPAiHPA048596.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

GO - Molecular functioni

  • keratin filament binding Source: UniProtKB

Protein-protein interaction databases

BioGridi125727. 2 interactors.
IntActiQ7RTS7. 12 interactors.
STRINGi9606.ENSP00000307240.

Structurei

3D structure databases

ProteinModelPortaliQ7RTS7.
SMRiQ7RTS7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 139HeadAdd BLAST139
Regioni140 – 449RodAdd BLAST310
Regioni140 – 175Coil 1AAdd BLAST36
Regioni176 – 194Linker 1Add BLAST19
Regioni195 – 286Coil 1BAdd BLAST92
Regioni287 – 310Linker 12Add BLAST24
Regioni311 – 449Coil 2Add BLAST139
Regioni450 – 529TailAdd BLAST80

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi10 – 111Gly-richAdd BLAST102

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IQKP. Eukaryota.
ENOG4111AD7. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ7RTS7.
KOiK07605.
PhylomeDBiQ7RTS7.
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.

Q7RTS7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSRQLNIKSS GDKGNFSVHS AVVPRKAVGS LASYCAAGRG AGAGFGSRSL
60 70 80 90 100
YSLGGNRRIS FNVAGGGVRA GGYGFRPGSG YGGGRASGFA GSMFGSVALG
110 120 130 140 150
PACLSVCPPG GIHQVTVNKS LLAPLNVELD PEIQKVRAQE REQIKVLNDK
160 170 180 190 200
FASFIDKVRF LEQQNQVLET KWELLQQLDL NNCKKNLEPI LEGYISNLRK
210 220 230 240 250
QLETLSGDRV RLDSELRSMR DLVEDYKKRY EVEINRRTTA ENEFVVLKKD
260 270 280 290 300
ADAAYAVKVE LQAKVDSLDK EIKFLKCLYD AEIAQIQTHA SETSVILSMD
310 320 330 340 350
NNRDLDLDSI IAEVRMHYEE IALKSKAEAE ALYQTKIQEL QLAASRHGDD
360 370 380 390 400
LKHTRSEMVE LNRLIQRIRC EIGNVKKQRA SLETAIADAE QRGDNALKDA
410 420 430 440 450
QAKLDELEGA LHQAKEELAR MLREYQELMS LKLALDMEIA TYRKLLEGEE
460 470 480 490 500
CRMSGENPSS VSISVISSSS YSYHHPSSAG VDLGASAVAG SSGSTQSGQT
510 520
KTTEARGGDL KDTQGKSTPA SIPARKATR
Length:529
Mass (Da):57,865
Last modified:January 15, 2008 - v2
Checksum:iCE81527DD4825CBF
GO

Sequence cautioni

The sequence DAA00404 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063587148N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. 1 PublicationCorresponds to variant rs267607205dbSNPEnsembl.1
Natural variantiVAR_038096165N → K.Corresponds to variant rs11170177dbSNPEnsembl.1
Natural variantiVAR_049806178L → Q.Corresponds to variant rs11170176dbSNPEnsembl.1
Natural variantiVAR_038097271E → D.2 PublicationsCorresponds to variant rs670741dbSNPEnsembl.1
Natural variantiVAR_071383274F → S in ECTD7; autosomal recessive. 1 PublicationCorresponds to variant rs147962513dbSNPEnsembl.1
Natural variantiVAR_061299392R → Q.Corresponds to variant rs57387512dbSNPEnsembl.1
Natural variantiVAR_061300424E → K.Corresponds to variant rs57711382dbSNPEnsembl.1
Natural variantiVAR_065951482D → N in HYPT3. 1 PublicationCorresponds to variant rs267607477dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ508777 mRNA. Translation: CAD48514.1.
AC055715 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW96637.1.
BK000977 Genomic DNA. Translation: DAA00404.1. Sequence problems.
CCDSiCCDS8832.1.
RefSeqiNP_778223.2. NM_175053.3.
UniGeneiHs.660125.

Genome annotation databases

EnsembliENST00000305620; ENSP00000307240; ENSG00000170484.
GeneIDi121391.
KEGGihsa:121391.
UCSCiuc001sap.1. 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
AJ508777 mRNA. Translation: CAD48514.1.
AC055715 Genomic DNA. No translation available.
CH471054 Genomic DNA. Translation: EAW96637.1.
BK000977 Genomic DNA. Translation: DAA00404.1. Sequence problems.
CCDSiCCDS8832.1.
RefSeqiNP_778223.2. NM_175053.3.
UniGeneiHs.660125.

3D structure databases

ProteinModelPortaliQ7RTS7.
SMRiQ7RTS7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125727. 2 interactors.
IntActiQ7RTS7. 12 interactors.
STRINGi9606.ENSP00000307240.

PTM databases

iPTMnetiQ7RTS7.
PhosphoSitePlusiQ7RTS7.
SwissPalmiQ7RTS7.

Polymorphism and mutation databases

BioMutaiKRT74.
DMDMi166218812.

Proteomic databases

PaxDbiQ7RTS7.
PeptideAtlasiQ7RTS7.
PRIDEiQ7RTS7.

Protocols and materials databases

DNASUi121391.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000305620; ENSP00000307240; ENSG00000170484.
GeneIDi121391.
KEGGihsa:121391.
UCSCiuc001sap.1. human.

Organism-specific databases

CTDi121391.
DisGeNETi121391.
GeneCardsiKRT74.
H-InvDBHIX0036697.
HGNCiHGNC:28929. KRT74.
HPAiHPA048596.
MalaCardsiKRT74.
MIMi194300. phenotype.
608248. gene.
613981. phenotype.
614929. phenotype.
neXtProtiNX_Q7RTS7.
OpenTargetsiENSG00000170484.
Orphaneti90368. Hypotrichosis simplex of the scalp.
69084. Pure hair and nail ectodermal dysplasia.
170. Woolly hair.
PharmGKBiPA147357741.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQKP. Eukaryota.
ENOG4111AD7. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ7RTS7.
KOiK07605.
PhylomeDBiQ7RTS7.
TreeFamiTF317854.

Enzyme and pathway databases

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

Miscellaneous databases

GenomeRNAii121391.
PROiQ7RTS7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170484.
CleanExiHS_KRT74.
ExpressionAtlasiQ7RTS7. baseline and differential.
GenevisibleiQ7RTS7. 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 nameiK2C74_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS7
Secondary accession number(s): B5MD61, Q86Y45
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 30, 2016
This is version 109 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

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.