ENSG00000205420


Homo sapiens

Features
Gene ID: ENSG00000205420
  
Biological name :KRT6A
  
Synonyms : keratin 6A / KRT6A / P02538
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.13
Gene start: 52487174
Gene end: 52493257
  
Corresponding Affymetrix probe sets: 209125_at (Human Genome U133 Plus 2.0 Array)   209126_x_at (Human Genome U133 Plus 2.0 Array)   214580_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000369317
NCBI entrez gene - 3853     See in Manteia.
OMIM - 148041
RefSeq - NM_005554
RefSeq Peptide - NP_005545
swissprot - A0A0S2Z428
swissprot - P02538
Ensembl - ENSG00000205420
  
Related genetic diseases (OMIM): 615726 - Pachyonychia congenita 3, 615726
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 krt4ENSDARG00000017624Danio rerio
 krt5ENSDARG00000058371Danio rerio
 krt8ENSDARG00000058358Danio rerio
 zgc:158846ENSDARG00000058462Danio rerio
 ENSGALG00000043689Gallus gallus
 KRT5ENSGALG00000032672Gallus gallus
 KRT6AENSGALG00000030629Gallus gallus
 KRT75ENSGALG00000035972Gallus gallus
 Gm5414ENSMUSG00000064232Mus musculus
 Gm5478ENSMUSG00000095241Mus musculus
 Krt6aENSMUSG00000058354Mus musculus
 Krt6bENSMUSG00000023041Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT6B / P04259 / keratin 6BENSG0000018547999
KRT6C / P48668 / keratin 6CENSG0000017046598
KRT5 / P13647 / keratin 5ENSG0000018608180
KRT75 / O95678 / keratin 75ENSG0000017045472
KRT3 / P12035 / keratin 3ENSG0000018644266
KRT76 / Q01546 / keratin 76ENSG0000018506965
KRT1 / P04264 / keratin 1ENSG0000016776864
KRT79 / Q5XKE5 / keratin 79ENSG0000018564061
KRT4 / P19013 / keratin 4ENSG0000017047758
KRT71 / Q3SY84 / keratin 71ENSG0000013964855
KRT7 / P08729 / keratin 7ENSG0000013548054
KRT8 / P05787 / keratin 8ENSG0000017042153


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR003054  Keratin, type II
 IPR018039  Intermediate filament protein, conserved site
 IPR032444  Keratin type II head


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001899 negative regulation of cytolysis by symbiont of host cells IDA
 biological_processGO:0002009 morphogenesis of an epithelium ISS
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0008284 positive regulation of cell proliferation NAS
 biological_processGO:0030154 cell differentiation NAS
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0042060 wound healing ISS
 biological_processGO:0050830 defense response to Gram-positive bacterium IMP
 biological_processGO:0051801 cytolysis in other organism involved in symbiotic interaction IMP
 biological_processGO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide IMP
 biological_processGO:0070268 cornification TAS
 biological_processGO:2000536 negative regulation of entry of bacterium into host cell IDA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0045095 keratin filament IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton NAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Keratinization
Formation of the cornified envelope


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000221 Furrowed tongue "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428]
Show

 HP:0000230 Gingivitis 
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000670 Carious teeth 
Show

 HP:0000975 Hyperhidrosis "An abnormally increased perspiration." [HPO:probinson]
Show

 HP:0000982 Palmoplantar keratoderma 
Show

 HP:0001131 Corneal dystrophy 
Show

 HP:0001231 Abnormality of the fingernails "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson]
Show

 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
Show

 HP:0001601 Laryngomalacia 
Show

 HP:0001798 Anonychia "Total absence of nails." [HPO:curators]
Show

 HP:0001805 Thickened nails 
Show

 HP:0002093 Respiratory insufficiency 
Show

 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show

 HP:0002745 Oral leukoplakia 
Show

 HP:0007556 Plantar hyperkeratosis "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson]
Show

 HP:0008064 Ichthyosiform abnormality of the skin 
Show

 HP:0008066 Abnormal blistering of the skin 
Show

 HP:0008401 Onychogryposis of toenails 
Show

 HP:0008404 Nail dystrophy, variable 
Show

 HP:0010765 Palmar hyperkeratosis "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand." [HPO:probinson]
Show

 HP:0040181 Chapped lip "Cracking, fissuring, and peeling of the skin of the lips." []
Show

 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
Show

 HP:0100643 Abnormality of the nail colour 
Show

 HP:0200035 skin plaques "A broad papule, or confluence of papules equal to or greater than 10 mm. Has also been defined as an elevated, plateau-like lesion that is greater in its diameter than in its depth." [HPO:SKOEHLER]
Show

 HP:0200040 Skin cysts "The presence of one or more `cysts` (MPATH:62) of the `skin` (FMA:7163)." [HPO:skoehler]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr