Format

Send to:

Choose Destination

KRT1 keratin 1 [ Homo sapiens (human) ]

Gene ID: 3848, updated on 9-Feb-2020

Summary

Official Symbol
KRT1provided by HGNC
Official Full Name
keratin 1provided by HGNC
Primary source
HGNC:HGNC:6412
See related
Ensembl:ENSG00000167768 MIM:139350
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; 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

Genomic context

See KRT1 in Genome Data Viewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (52674736..52680407, complement)
105 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 keratin 77 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
carbohydrate binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
structural constituent of epidermis IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
complement activation, lectin pathway IPI
Inferred from Physical Interaction
more info
PubMed 
cornification TAS
Traceable Author Statement
more info
 
establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
 
fibrinolysis NAS
Non-traceable Author Statement
more info
PubMed 
keratinization TAS
Traceable Author Statement
more info
 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
peptide cross-linking IDA
Inferred from Direct Assay
more info
PubMed 
protein heterotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of angiogenesis NAS
Non-traceable Author Statement
more info
PubMed 
response to oxidative stress NAS
Non-traceable Author Statement
more info
PubMed 
retina homeostasis HEP 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)

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
    P04264
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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