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UniProtKB - Q7RTS7 (K2C74_HUMAN)

Entry version 132 (10 Feb 2021)
Sequence version 2 (15 Jan 2008)
Previous versions | rss
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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

<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

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 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>Sitei391Stutter1

<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

  • keratin filament binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7RTS7

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 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
<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:KRT74
Synonyms:K6IRS4, KB37, KRT5C, KRT6IRS4
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:28929, KRT74

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608248, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7RTS7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000170484.9

<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

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 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_063587148N → 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065951482D → 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071383274F → S in ECTD7; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs147962513EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Ectodermal dysplasia, Hypotrichosis

Organism-specific databases

DisGeNET

More...DisGeNETi		121391

MalaCards human disease database

More...MalaCardsi		KRT74
MIMi194300, phenotype
613981, phenotype
614929, phenotype

Open Targets

More...OpenTargetsi		ENSG00000170484

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90368, Hypotrichosis simplex of the scalp
69084, Pure hair and nail ectodermal dysplasia
170, Woolly hair

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA147357741

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7RTS7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KRT74

Domain mapping of disease mutations (DMDM)

More...DMDMi		166218812

<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_00003148851 – 529Keratin, type II cytoskeletal 74Add BLAST529

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei513PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7RTS7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7RTS7

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

More...PaxDbi		Q7RTS7

PeptideAtlas

More...PeptideAtlasi		Q7RTS7

PRoteomics IDEntifications database

More...PRIDEi		Q7RTS7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68895

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7RTS7

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

More...PhosphoSitePlusi		Q7RTS7

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q7RTS7

<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. 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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000170484, Expressed in upper arm skin and 39 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7RTS7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7RTS7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000170484, Group enriched (epididymis, skin)

<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

Heterotetramer of two type I and two type II keratins.

<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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125727, 17 interactors

Protein interaction database and analysis system

More...IntActi		Q7RTS7, 15 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000307240

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7RTS7, 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		Q7RTS7

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>Domaini140 – 453IF 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 – 139HeadAdd BLAST139
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
<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 biasi10 – 111Gly-richAdd BLAST102

<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		ENOG502RNQG, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000162774

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7RTS7

Database of Orthologous Groups

More...OrthoDBi		671547at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7RTS7

TreeFam database of animal gene trees

More...TreeFami		TF317854

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.5.1160, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

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

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01276, TYPE2KERATIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01391, Filament, 1 hit

PROSITE; a protein domain and family database

More...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>Sequence (1+)i

<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.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<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:iCE81527DD4825CBF
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W1S1F8W1S1_HUMAN
Keratin, type II cytoskeletal 74
KRT74
543Annotation score:

Annotation score:1 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>

<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 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 dbSNP:rs267607205EnsemblClinVar.1
Natural variantiVAR_038096165N → K. Corresponds to variant dbSNP:rs11170177Ensembl.1
Natural variantiVAR_049806178L → Q. Corresponds to variant dbSNP:rs11170176Ensembl.1
Natural variantiVAR_038097271E → D2 PublicationsCorresponds to variant dbSNP:rs670741Ensembl.1
Natural variantiVAR_071383274F → S in ECTD7; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs147962513EnsemblClinVar.1
Natural variantiVAR_061299392R → Q. Corresponds to variant dbSNP:rs57387512EnsemblClinVar.1
Natural variantiVAR_061300424E → K. Corresponds to variant dbSNP:rs57711382EnsemblClinVar.1
Natural variantiVAR_065951482D → N in HYPT3. 1 PublicationCorresponds to variant dbSNP:rs267607477EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS8832.1

NCBI Reference Sequences

More...RefSeqi		NP_778223.2, NM_175053.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000305620; ENSP00000307240; ENSG00000170484

Database of genes from NCBI RefSeq genomes

More...GeneIDi		121391

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:121391

UCSC genome browser

More...UCSCi		uc001sap.1, human

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

SMRiQ7RTS7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125727, 17 interactors
IntActiQ7RTS7, 15 interactors
STRINGi9606.ENSP00000307240

PTM databases

iPTMnetiQ7RTS7
PhosphoSitePlusiQ7RTS7
SwissPalmiQ7RTS7

Genetic variation databases

BioMutaiKRT74
DMDMi166218812

Proteomic databases

jPOSTiQ7RTS7
MassIVEiQ7RTS7
PaxDbiQ7RTS7
PeptideAtlasiQ7RTS7
PRIDEiQ7RTS7
ProteomicsDBi68895

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		56742, 49 antibodies

The DNASU plasmid repository

More...DNASUi		121391

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		121391
DisGeNETi121391

GeneCards: human genes, protein and diseases

More...GeneCardsi		KRT74
HGNCiHGNC:28929, KRT74
HPAiENSG00000170484, Group enriched (epididymis, skin)
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
VEuPathDBiHostDB:ENSG00000170484.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502RNQG, Eukaryota
GeneTreeiENSGT00940000162774
InParanoidiQ7RTS7
OrthoDBi671547at2759
PhylomeDBiQ7RTS7
TreeFamiTF317854

Enzyme and pathway databases

PathwayCommonsiQ7RTS7
ReactomeiR-HSA-6805567, Keratinization
R-HSA-6809371, Formation of the cornified envelope

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		121391, 5 hits in 865 CRISPR screens

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

More...GenomeRNAii		121391
PharosiQ7RTS7, Tbio

Protein Ontology

More...PROi		PR:Q7RTS7
RNActiQ7RTS7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000170484, Expressed in upper arm skin and 39 other tissues
ExpressionAtlasiQ7RTS7, baseline and differential
GenevisibleiQ7RTS7, 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 nameiK2C74_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: Q7RTS7
Secondary accession number(s): B5MD61, Q86Y45
<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: January 15, 2008
Last modified: February 10, 2021
This is version 132 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 entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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