Format

Send to:

Choose Destination

KRT1 keratin 1 [ Homo sapiens (human) ]

Gene ID: 3848, updated on 25-May-2017
Official Symbol
KRT1provided by HGNC
Official Full Name
keratin 1provided by HGNC
Primary source
HGNC:HGNC:6412
See related
Ensembl:ENSG00000167768 MIM:139350; Vega:OTTHUMG00000169749
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]
Orthologs
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
    Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription, organism-specific biosystem
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription
Products Interactant Other Gene Complex Source Pubs Description

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 
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 
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 IEP
Inferred from Expression Pattern
more info
PubMed 
skin epidermis development IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
PubMed 
cornified envelope IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
keratin filament IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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

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_008364.1 RefSeqGene

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

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_006112.3

    Status: REVIEWED

    Source sequence(s)
    AC055716, BC063697, DB112126
    Consensus CDS
    CCDS8836.1
    UniProtKB/Swiss-Prot
    P04264
    Related
    ENSP00000252244.3, OTTHUMP00000241991, ENST00000252244.3, OTTHUMT00000405706
    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 Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    53035321..53040992 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center