AutismKB 2.0

Annotation Details for KRT1


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Basic Information Top
Gene Symbol:KRT1 ( CK1,EHK,EHK1,EPPK,K1,KRT1A,NEPPK )
Gene Full Name: keratin 1
Band: 12q13.13
Quick LinksEntrez ID:3848; OMIM: 139350; Uniprot ID:K2C1_HUMAN; ENSEMBL ID: ENSG00000167768; HGNC ID: 6412
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001533IDA-cornified envelope7543090
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space22664934
GO:0005634IDA-nucleus21630459
GO:0005829TAS-cytosol-
GO:0005856TAS-cytoskeleton1381288
GO:0016020IDA-membrane11290596
GO:0031012IDA-extracellular matrix23658023
GO:0045095IEA-keratin filament-
GO:0070062IDA-extracellular exosome11487543
GO:0072562IDA-blood microparticle22516433
GO:1904813TAS-ficolin-1-rich granule lumen-
GO ID Evidence Qualifier GO_term References
GO:0004872NAS-receptor activity11290596
GO:0005515IPI-protein binding11290596
GO:0030246IPI-carbohydrate binding11549596
GO:0030280IDA-structural constituent of epidermis7543090
GO ID Evidence Qualifier GO_term References
GO:0001867IPI-complement activation, lectin pathway11549596
GO:0001895IEP-retina homeostasis23580065
GO:0006979NAS-response to oxidative stress11549596
GO:0018149IDA-peptide cross-linking7543090
GO:0031424TAS-keratinization-
GO:0042730NAS-fibrinolysis11290596
GO:0043312TAS-neutrophil degranulation-
GO:0045765NAS-regulation of angiogenesis11290596
GO:0050728IEA-negative regulation of inflammatory response-
GO:0061436IEA-establishment of skin barrier-
GO:0070268TAS-cornification-
GO:0098773IC-skin epidermis development7543090
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KRT1CSTA1100468999895 Reconstituted Complex
KRT1CSTA1078578999895 Reconstituted Complex
KRT1DSP1081669261168 Reconstituted Complex; Two-hybrid
KRT1DSP1100469261168 Reconstituted Complex; Two-hybrid
KRT1FANCA10847214499622 Two-hybrid
KRT1FANCA11004614499622 Two-hybrid
KRT1FANCC11004614499622 Two-hybrid
KRT1FANCC10847314499622 Two-hybrid
KRT1IVL1099178999895 Reconstituted Complex
KRT1IVL1100468999895 Reconstituted Complex
KRT1KNG111002610066772 Reconstituted Complex
KRT1KNG111004610066772 Reconstituted Complex
LORKRT11101988999895 Reconstituted Complex
LORKRT11100468999895 Reconstituted Complex
PI3KRT11100468999895 Reconstituted Complex
PI3KRT11112848999895 Reconstituted Complex
MBL2KRT111032311549596 Affinity Capture-Western
MBL2KRT111004611549596 Affinity Capture-Western
PRKCEKRT111004611897493 Affinity Capture-MS; Affinity Capture-Western
PRKCEKRT111156711897493 Affinity Capture-MS; Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96698
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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