KRT10 keratin 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT10provided by HGNC
Official Full Name: keratin 10provided by HGNC
Primary source: HGNC:HGNC:6413
See related: Ensembl:ENSG00000186395 MIM:148080; AllianceGenome:HGNC:6413
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BIE; EHK; IHL; K10; KPP; BCIE; CK10; EHK2; EHK2A; EHK2B
Summary: This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward skin (RPKM 7171.9) See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (40818117..40822614, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (41682437..41686934, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (38974369..38978866, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
Title: Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
KRT10 plays an important role in the release of viral genome from endosomes during H9N2 subtype AIV replication in HeLa cells.
Title: KRT10 plays an important role in the release of viral genome from endosomes during H9N2 subtype AIV replication in HeLa cells.
Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
Title: Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10.
Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
Title: Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
Recurrent KRT10 Variant in Ichthyosis with Confetti.
Title: Recurrent KRT10 Variant in Ichthyosis with Confetti.
Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.
Title: Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.
Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
Title: Ozone therapy promotes the differentiation of basal keratinocytes via increasing Tp63-mediated transcription of KRT10 to improve psoriasis.
Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.
Title: Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.
Mutations in KRT10 in epidermolytic acanthoma.
Title: Mutations in KRT10 in epidermolytic acanthoma.
Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.
Title: Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital reticular ichthyosiform erythroderma MedGen: C3665704 OMIM: 609165 GeneReviews: Not available	Compare labs
Epidermolytic hyperkeratosis 2A, autosomal dominant MedGen: C5882671 OMIM: 620150 GeneReviews: Not available	Compare labs
Epidermolytic hyperkeratosis 2B, autosomal recessive MedGen: C5882753 OMIM: 620707 GeneReviews: Not available	not available
Ichthyosis hystrix gravior MedGen: C0432311 OMIM: 146600 GeneReviews: Not available	not available
Ichthyosis, annular epidermolytic 1 MedGen: CN324065 OMIM: 607602 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X14487 (e-PCR)
- UniSTS:76288

GDB:196997 (e-PCR)
- UniSTS:155911

RH75831 (e-PCR)
- UniSTS:88383

GDB:196333 (e-PCR)
- UniSTS:155827

DXS8276 (e-PCR)
- UniSTS:18109

STS-M77663 (e-PCR)
- UniSTS:42948

GDB:190618 (e-PCR)
- UniSTS:155621

GDB:196685 (e-PCR)
- UniSTS:155886

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of skin epidermis	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of skin epidermis	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of skin epidermis	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in epidermis development	IBA Inferred from Biological aspect of Ancestor more info
involved_in epithelial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinocyte differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epidermis development	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein heterotetramerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in intermediate filament	NAS Non-traceable Author Statement more info	PubMed
is_active_in keratin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in keratin filament	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type I cytoskeletal 10

Names: CK-10; cytokeratin 10; keratin 10, type I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008405.2 RefSeqGene

Range

5000..9497

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000421.5 → NP_000412.4 keratin, type I cytoskeletal 10 isoform 1

Status: REVIEWED

Source sequence(s)

AC090283

Consensus CDS

CCDS11377.1

UniProtKB/Swiss-Prot

P13645, Q14664, Q8N175

Related

ENSP00000269576.5, ENST00000269576.6

Conserved Domains (1) summary

pfam00038
Location:145 → 454

Filament; Intermediate filament protein
NM_001379366.1 → NP_001366295.1 keratin, type I cytoskeletal 10 isoform 2

Status: REVIEWED

Source sequence(s)

AC090283

Consensus CDS

CCDS92302.1

UniProtKB/TrEMBL

A0A1B0GVI3

Related

ENSP00000490524.2, ENST00000635956.2

Conserved Domains (1) summary

pfam00038
Location:145 → 454

Filament; Intermediate filament protein