ENSG00000171401


Homo sapiens

Features
Gene ID: ENSG00000171401
  
Biological name :KRT13
  
Synonyms : keratin 13 / KRT13 / P13646
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: -1
Band: q21.2
Gene start: 41500981
Gene end: 41505705
  
Corresponding Affymetrix probe sets: 207935_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000466465
Ensembl peptide - ENSP00000466525
Ensembl peptide - ENSP00000467833
Ensembl peptide - ENSP00000468221
Ensembl peptide - ENSP00000246635
Ensembl peptide - ENSP00000336604
NCBI entrez gene - 3860     See in Manteia.
OMIM - 148065
RefSeq - NM_153490
RefSeq - NM_002274
RefSeq Peptide - NP_002265
RefSeq Peptide - NP_705694
swissprot - P13646
swissprot - K7EMD9
swissprot - K7EMJ2
swissprot - K7EQH6
swissprot - K7ERE3
Ensembl - ENSG00000171401
  
Related genetic diseases (OMIM): 615785 - White sponge nevus 2, 615785
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
 cyt1ENSDARG00000092947Danio rerio
 cyt1lENSDARG00000036832Danio rerio
 krt1-19dENSDARG00000023082Danio rerio
 krt15ENSDARG00000036840Danio rerio
 krt17ENSDARG00000094041Danio rerio
 krt91ENSDARG00000036830Danio rerio
 krt92ENSDARG00000036834Danio rerio
 krt93ENSDARG00000044976Danio rerio
 krt94ENSDARG00000044975Danio rerio
 krt95ENSDARG00000014356Danio rerio
 krt96ENSDARG00000095147Danio rerio
 krt97ENSDARG00000000212Danio rerio
 krtt1c19eENSDARG00000090268Danio rerio
 si:ch211-156l18.7ENSDARG00000022334Danio rerio
 KRT15ENSGALG00000019718Gallus gallus
 Krt13ENSMUSG00000044041Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KRT15 / P19012 / keratin 15ENSG0000017134673
KRT16 / P08779 / keratin 16ENSG0000018683263
KRT14 / P02533 / keratin 14ENSG0000018684762
KRT10 / P13645 / keratin 10ENSG0000018639557
KRT17 / Q04695 / keratin 17ENSG0000012842256
KRT19 / P08727 / keratin 19ENSG0000017134555
KRT24 / Q2M2I5 / keratin 24ENSG0000016791654
KRT12 / Q99456 / keratin 12ENSG0000018724253
KRT27 / Q7Z3Y8 / keratin 27ENSG0000017144649
KRT28 / Q7Z3Y7 / keratin 28ENSG0000017390848
KRT25 / Q7Z3Z0 / keratin 25ENSG0000020489747
KRT26 / Q7Z3Y9 / keratin 26ENSG0000018639345


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein
 IPR002957  Keratin, type I
 IPR018039  Intermediate filament protein, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007010 cytoskeleton organization IDA
 biological_processGO:0009314 response to radiation IEA
 biological_processGO:0031424 keratinization TAS
 biological_processGO:0043587 tongue morphogenesis IEA
 biological_processGO:0070268 cornification TAS
 biological_processGO:0071300 cellular response to retinoic acid IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005882 intermediate filament IEA
 cellular_componentGO:0045095 keratin filament IDA
 cellular_componentGO:0045111 intermediate filament cytoskeleton IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005198 structural molecule activity IEA
 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:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0025092 Epidermal acanthosis "Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin)." []
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 HP:0040009 Hyperparakeratosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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