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KRT1 keratin 1 [ Homo sapiens (human) ]

Gene ID: 3848, updated on 27-Nov-2024

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
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Genomic context

See KRT1 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene keratin 128, pseudogene Neighboring gene keratin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53068684-53069184 Neighboring gene keratin 77 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29208 Neighboring gene keratin 126, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 

General protein information

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

  1. NG_008364.2 RefSeqGene

    Range
    5001..10672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006121.4NP_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:180492
    Filament; Intermediate filament protein
    pfam16208
    Location:145176
    Keratin_2_head; Keratin type II head
    pfam16210
    Location:493512
    Keratin_2_tail; Keratin type II cytoskeletal 1 tail
    cl01888
    Location:405465
    DUF883; Bacterial protein of unknown function (DUF883)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    52674736..52680407 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    52639281..52644932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)