UniProtKB - Q7RTS7 (K2C74_HUMAN)
Protein
Keratin, type II cytoskeletal 74
Gene
KRT74
Organism
Homo sapiens (Human)
Status
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
Miscellaneous
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 391 | Stutter | 1 |
GO - Molecular functioni
- keratin filament binding Source: UniProtKB
GO - Biological processi
- cornification Source: Reactome
- intermediate filament cytoskeleton organization Source: UniProtKB
- keratinization Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q7RTS7 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Names & Taxonomyi
Protein namesi | Recommended name: Keratin, type II cytoskeletal 74Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28929, KRT74 |
MIMi | 608248, gene |
neXtProti | NX_Q7RTS7 |
VEuPathDBi | HostDB:ENSG00000170484.9 |
Subcellular locationi
Cytoskeleton
- keratin filament Source: InterPro
Cytosol
- cytosol Source: Reactome
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Intermediate filament, KeratinPathology & Biotechi
Involvement in diseasei
Woolly hair autosomal dominant (ADWH)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063587 | 148 | N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. 1 PublicationCorresponds to variant dbSNP:rs267607205EnsemblClinVar. | 1 |
Hypotrichosis 3 (HYPT3)1 Publication
The disease is caused by variants 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. HYPT3 inheritance is autosomal dominant.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065951 | 482 | D → N in HYPT3. 1 PublicationCorresponds to variant dbSNP:rs267607477EnsemblClinVar. | 1 |
Ectodermal dysplasia 7, hair/nail type (ECTD7)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071383 | 274 | F → S in ECTD7; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs147962513EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Ectodermal dysplasia, HypotrichosisOrganism-specific databases
DisGeNETi | 121391 |
MalaCardsi | KRT74 |
MIMi | 194300, phenotype 613981, phenotype 614929, phenotype |
OpenTargetsi | ENSG00000170484 |
Orphaneti | 90368, Hypotrichosis simplex of the scalp 69084, Pure hair and nail ectodermal dysplasia 170, Woolly hair |
PharmGKBi | PA147357741 |
Miscellaneous databases
Pharosi | Q7RTS7, Tbio |
Genetic variation databases
BioMutai | KRT74 |
DMDMi | 166218812 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000314885 | 1 – 529 | Keratin, type II cytoskeletal 74Add BLAST | 529 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 513 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q7RTS7 |
MassIVEi | Q7RTS7 |
PaxDbi | Q7RTS7 |
PeptideAtlasi | Q7RTS7 |
PRIDEi | Q7RTS7 |
ProteomicsDBi | 68895 |
PTM databases
iPTMneti | Q7RTS7 |
PhosphoSitePlusi | Q7RTS7 |
SwissPalmi | Q7RTS7 |
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
Bgeei | ENSG00000170484, Expressed in upper arm skin and 39 other tissues |
ExpressionAtlasi | Q7RTS7, baseline and differential |
Genevisiblei | Q7RTS7, HS |
Organism-specific databases
HPAi | ENSG00000170484, Group enriched (epididymis, skin) |
Interactioni
Subunit structurei
Heterotetramer of two type I and two type II keratins.
Binary interactionsi
Hide detailsQ7RTS7
Protein-protein interaction databases
BioGRIDi | 125727, 17 interactors |
IntActi | Q7RTS7, 15 interactors |
STRINGi | 9606.ENSP00000307240 |
Miscellaneous databases
RNActi | Q7RTS7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 140 – 453 | IF rodPROSITE-ProRule annotationAdd BLAST | 314 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 139 | HeadAdd BLAST | 139 | |
Regioni | 140 – 175 | Coil 1AAdd BLAST | 36 | |
Regioni | 176 – 194 | Linker 1Add BLAST | 19 | |
Regioni | 195 – 286 | Coil 1BAdd BLAST | 92 | |
Regioni | 287 – 310 | Linker 12Add BLAST | 24 | |
Regioni | 311 – 449 | Coil 2Add BLAST | 139 | |
Regioni | 450 – 529 | TailAdd BLAST | 80 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 10 – 111 | Gly-richAdd BLAST | 102 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502RNQG, Eukaryota |
GeneTreei | ENSGT00940000162774 |
InParanoidi | Q7RTS7 |
OrthoDBi | 671547at2759 |
PhylomeDBi | Q7RTS7 |
TreeFami | TF317854 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR032444, Keratin_2_head IPR003054, Keratin_II |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF16208, Keratin_2_head, 1 hit |
PRINTSi | PR01276, TYPE2KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q7RTS7-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketF8W1S1 | F8W1S1_HUMAN | Keratin, type II cytoskeletal 74 | KRT74 | 543 | Annotation score: |
Sequence cautioni
The sequence DAA00404 differs from that shown. Reason: Erroneous gene model prediction.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063587 | 148 | N → K in ADWH; results in disruption of keratin intermediate filament formation in cultured cells. 1 PublicationCorresponds to variant dbSNP:rs267607205EnsemblClinVar. | 1 | |
Natural variantiVAR_038096 | 165 | N → K. Corresponds to variant dbSNP:rs11170177Ensembl. | 1 | |
Natural variantiVAR_049806 | 178 | L → Q. Corresponds to variant dbSNP:rs11170176Ensembl. | 1 | |
Natural variantiVAR_038097 | 271 | E → D2 PublicationsCorresponds to variant dbSNP:rs670741Ensembl. | 1 | |
Natural variantiVAR_071383 | 274 | F → S in ECTD7; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs147962513EnsemblClinVar. | 1 | |
Natural variantiVAR_061299 | 392 | R → Q. Corresponds to variant dbSNP:rs57387512EnsemblClinVar. | 1 | |
Natural variantiVAR_061300 | 424 | E → K. Corresponds to variant dbSNP:rs57711382EnsemblClinVar. | 1 | |
Natural variantiVAR_065951 | 482 | D → N in HYPT3. 1 PublicationCorresponds to variant dbSNP:rs267607477EnsemblClinVar. | 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. |
CCDSi | CCDS8832.1 |
RefSeqi | NP_778223.2, NM_175053.3 |
Genome annotation databases
Ensembli | ENST00000305620; ENSP00000307240; ENSG00000170484 |
GeneIDi | 121391 |
KEGGi | hsa:121391 |
UCSCi | uc001sap.1, human |
Similar proteinsi
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. |
CCDSi | CCDS8832.1 |
RefSeqi | NP_778223.2, NM_175053.3 |
3D structure databases
SMRi | Q7RTS7 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 125727, 17 interactors |
IntActi | Q7RTS7, 15 interactors |
STRINGi | 9606.ENSP00000307240 |
PTM databases
iPTMneti | Q7RTS7 |
PhosphoSitePlusi | Q7RTS7 |
SwissPalmi | Q7RTS7 |
Genetic variation databases
BioMutai | KRT74 |
DMDMi | 166218812 |
Proteomic databases
jPOSTi | Q7RTS7 |
MassIVEi | Q7RTS7 |
PaxDbi | Q7RTS7 |
PeptideAtlasi | Q7RTS7 |
PRIDEi | Q7RTS7 |
ProteomicsDBi | 68895 |
Protocols and materials databases
Antibodypediai | 56742, 49 antibodies |
DNASUi | 121391 |
Genome annotation databases
Ensembli | ENST00000305620; ENSP00000307240; ENSG00000170484 |
GeneIDi | 121391 |
KEGGi | hsa:121391 |
UCSCi | uc001sap.1, human |
Organism-specific databases
CTDi | 121391 |
DisGeNETi | 121391 |
GeneCardsi | KRT74 |
HGNCi | HGNC:28929, KRT74 |
HPAi | ENSG00000170484, Group enriched (epididymis, skin) |
MalaCardsi | KRT74 |
MIMi | 194300, phenotype 608248, gene 613981, phenotype 614929, phenotype |
neXtProti | NX_Q7RTS7 |
OpenTargetsi | ENSG00000170484 |
Orphaneti | 90368, Hypotrichosis simplex of the scalp 69084, Pure hair and nail ectodermal dysplasia 170, Woolly hair |
PharmGKBi | PA147357741 |
VEuPathDBi | HostDB:ENSG00000170484.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RNQG, Eukaryota |
GeneTreei | ENSGT00940000162774 |
InParanoidi | Q7RTS7 |
OrthoDBi | 671547at2759 |
PhylomeDBi | Q7RTS7 |
TreeFami | TF317854 |
Enzyme and pathway databases
PathwayCommonsi | Q7RTS7 |
Reactomei | R-HSA-6805567, Keratinization R-HSA-6809371, Formation of the cornified envelope |
Miscellaneous databases
BioGRID-ORCSi | 121391, 5 hits in 865 CRISPR screens |
GenomeRNAii | 121391 |
Pharosi | Q7RTS7, Tbio |
PROi | PR:Q7RTS7 |
RNActi | Q7RTS7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170484, Expressed in upper arm skin and 39 other tissues |
ExpressionAtlasi | Q7RTS7, baseline and differential |
Genevisiblei | Q7RTS7, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR032444, Keratin_2_head IPR003054, Keratin_II |
Pfami | View protein in Pfam PF00038, Filament, 1 hit PF16208, Keratin_2_head, 1 hit |
PRINTSi | PR01276, TYPE2KERATIN |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | K2C74_HUMAN | |
Accessioni | Q7RTS7Primary (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: | February 10, 2021 | |
This is version 132 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families