Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
KRT1 keratin 1	K1 , CK1 , EHK , AEI2 , EHK1 , EPPK , KRT1A , NEPPK	Homo sapiens	9	protein-coding	KRT8 , KRT6C , KRT6B , KRT6A , KRT80 , KRT74 , KRT71 , KRT72 , KRT73 , KRT77 , KRT78 , KRT4 , KRT79 , KRT76 , KRT3 , KRT2 , KRT75 , KRT5 , KRT85 , KRT86 , KRT81 , KRT83 , KRT84 , KRT82 , KRT7		139350

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]

GeneOntology

Function (1)

Go ID	Value	Evidence
0030246	enables carbohydrate binding	IPI

Component (15)

Go ID	Value	Evidence
0072562	located_in blood microparticle	HDA
0062023	located_in collagen-containing extracellular matrix	HDA
0001533	located_in cornified envelope	IDA
0005737	located_in cytoplasm	IDA
0005856	located_in cytoskeleton	TAS
0005829	located_in cytosol	TAS
0070062	located_in extracellular exosome	HDA
0005576	located_in extracellular region	TAS
0005615	located_in extracellular space	HDA
1904813	located_in ficolin-1-rich granule lumen	TAS
0045095	is_active_in keratin filament	IBA
0045095	located_in keratin filament	IPI
0016020	located_in membrane	HDA
0016020	located_in membrane	IDA
0005634	located_in nucleus	HDA

Process (10)

Go ID	Value	Evidence
0001867	involved_in complement activation, lectin pathway	IPI
0061436	involved_in establishment of skin barrier	IEA
0042730	involved_in fibrinolysis	NAS
0045109	involved_in intermediate filament organization	IBA
0031424	involved_in keratinization	IBA
0050728	involved_in negative regulation of inflammatory response	IEA
0018149	involved_in peptide cross-linking	IDA
0051290	involved_in protein heterotetramerization	IDA
0045765	involved_in regulation of angiogenesis	NAS
0006979	involved_in response to oxidative stress	NAS

Gene Loss events - KRT1 (6 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_BZ4O6B	Lipotes vexillifer	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_F409HB	Neophocaena asiaeorientalis asiaeorientalis	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_FINHUJ	Physeter catodon	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_NVIJBZ	Orcinus orca	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_QH4XR2	Balaena mysticetus	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x
GL_VNNMH0	Balaenoptera acutorostrata	Artiodactyla	Gene deletion	Full	No	10.1186/s12983-017-0225-x