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KRT1 keratin 1 [ Homo sapiens (human) ]

Gene ID: 3848, updated on 7-Aug-2014
Official Symbol
KRT1provided by HGNC
Official Full Name
keratin 1provided by HGNC
Primary source
HGNC:6412
See related
Ensembl:ENSG00000167768; HPRD:00763; 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]
See KRT1 in Epigenomics, MapViewer
Location:
12q13.13
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 KRT73 antisense RNA 1 Neighboring gene keratin 73 Neighboring gene keratin 2 Neighboring gene keratin 77 Neighboring gene keratin 126 pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 molecule activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
complement activation, lectin pathway IPI
Inferred from Physical Interaction
more info
PubMed 
fibrinolysis NAS
Non-traceable Author Statement
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
 
Component Evidence Code Pubs
blood microparticle IDA
Inferred from Direct Assay
more info
 
cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
keratin, type II cytoskeletal 1
Names
keratin, type II cytoskeletal 1
CK-1
cytokeratin 1
cytokeratin-1
67 kDa cytokeratin
hair alpha protein
type-II keratin Kb1
epidermolytic hyperkeratosis 1

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 

    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 proteins identical to NP_006112.3

    Status: REVIEWED

    Source sequence(s)
    AC055716, BC063697, DB112126
    Consensus CDS
    CCDS8836.1
    UniProtKB/Swiss-Prot
    P04264
    Related
    ENSP00000252244, OTTHUMP00000241991, ENST00000252244, OTTHUMT00000405706
    Conserved Domains (2) summary
    pfam00038
    Location:180492
    Blast Score: 931
    Filament; Intermediate filament protein
    cl19113
    Location:310466
    Blast Score: 106
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    50112373..50118022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

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