KRT1 keratin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KRT1provided by HGNC
Official Full Name: keratin 1provided by HGNC
Primary source: HGNC:HGNC:6412
See related: Ensembl:ENSG00000167768 MIM:139350; AllianceGenome:HGNC:6412
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: K1; CK1; EHK; AEI2; EHK1; EPPK; KRT1A; NEPPK
Summary: The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward skin (RPKM 6502.3) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (52674736..52680407, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (52639281..52644932, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53068520..53074191, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells.
Title: Human cytokeratin 1 plays a role in the interaction of Pteropine orthoreovirus with Hek293 cells but not HeLa cells.
Associations of serum keratin 1 with thyroid function and immunity in Graves' disease.
Title: Associations of serum keratin 1 with thyroid function and immunity in Graves' disease.
Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
Title: Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1.
Title: The Adhesion G-Protein-Coupled Receptor GPR115/ADGRF4 Regulates Epidermal Differentiation and Associates with Cytoskeletal KRT1.
Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
Title: Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
Title: Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
Keratin 1 as a cell-surface receptor in cancer.
Title: Keratin 1 as a cell-surface receptor in cancer.
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.
Keratin 1 maintains the intestinal barrier in ulcerative colitis.
Title: Keratin 1 maintains the intestinal barrier in ulcerative colitis.
Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.
Title: Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.

Submit: New GeneRIF Correction See all GeneRIFs (57)

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
Diffuse nonepidermolytic palmoplantar keratoderma MedGen: C1833030 OMIM: 600962 GeneReviews: Not available	not available
Epidermolytic hyperkeratosis 1 MedGen: C5781874 OMIM: 113800 GeneReviews: Not available	not available
Ichthyosis hystrix of Curth-Macklin MedGen: C1840296 OMIM: 146590 GeneReviews: Not available	not available
Ichthyosis, annular epidermolytic, 2 MedGen: C5774264 OMIM: 620148 GeneReviews: Not available	not available
Keratosis palmoplantaris striata 3 MedGen: C2931123 OMIM: 607654 GeneReviews: Not available	not available
Palmoplantar keratoderma, epidermolytic, 2 MedGen: C2936837 OMIM: 620411 GeneReviews: Not available	not available

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

WI-17855 (e-PCR)
- UniSTS:71461

RH17765 (e-PCR)
- UniSTS:68444

D12S757 (e-PCR)
- UniSTS:148906

GDB:190621 (e-PCR)
- UniSTS:155622

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables carbohydrate binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor activity	NAS Non-traceable Author Statement 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

Process	Evidence Code	Pubs
involved_in complement activation, lectin pathway	IPI Inferred from Physical Interaction more info	PubMed
involved_in establishment of skin barrier	IEA Inferred from Electronic Annotation more info
involved_in fibrinolysis	NAS Non-traceable Author Statement more info	PubMed
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in keratinization	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in peptide cross-linking	IDA Inferred from Direct Assay more info	PubMed
involved_in protein heterotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of angiogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to oxidative stress	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
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 membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: keratin, type II cytoskeletal 1

Names: 67 kDa cytokeratin; CK-1; cytokeratin 1; epidermolytic hyperkeratosis 1; hair alpha protein; keratin 1, type II; type-II keratin Kb1

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_008364.2 RefSeqGene

Range

5001..10672

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006121.4 → NP_006112.3 keratin, type II cytoskeletal 1

See identical proteins and their annotated locations for NP_006112.3

Status: REVIEWED

Source sequence(s)

AC055716

Consensus CDS

CCDS8836.1

UniProtKB/Swiss-Prot

B2RA01, P04264, P85925, P86104, Q14720, Q6GSJ0, Q9H298

UniProtKB/TrEMBL

H6VRF8, H6VRG1, H6VRG2, H6VRG3

Related

ENSP00000252244.3, ENST00000252244.3

Conserved Domains (4) summary

pfam00038
Location:180 → 492

Filament; Intermediate filament protein

pfam16208
Location:145 → 176

Keratin_2_head; Keratin type II head

pfam16210
Location:493 → 512

Keratin_2_tail; Keratin type II cytoskeletal 1 tail

cl01888
Location:405 → 465

DUF883; Bacterial protein of unknown function (DUF883)