AutismKB 2.0

Annotation Details for CELA1


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Basic Information Top
Gene Symbol:CELA1 ( ELA1 )
Gene Full Name: chymotrypsin-like elastase family, member 1
Band: 12q13.13
Quick LinksEntrez ID:1990; OMIM: 130120; Uniprot ID:CELA1_HUMAN; ENSEMBL ID: ENSG00000139610; HGNC ID: 3308
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005615IBA-extracellular space-
GO ID Evidence Qualifier GO_term References
GO:0004252IBA-serine-type endopeptidase activity-
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0006508IEA-proteolysis-
GO:0006954IEA-inflammatory response-
GO:0009791IEA-post-embryonic development-
GO:0016055IEA-Wnt signaling pathway-
GO:0031017IEA-exocrine pancreas development-
GO:0035264IEA-multicellular organism growth-
GO:0042127IEA-regulation of cell proliferation-
GO:0045595IEA-regulation of cell differentiation-
GO:0045766IEA-positive regulation of angiogenesis-
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0048771IEA-tissue remodeling-
GO:0060309IEA-elastin catabolic process-
GO:0061113IEA-pancreas morphogenesis-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95314
  • 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