AutismKB 2.0

Annotation Details for ITIH1


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Basic Information Top
Gene Symbol:ITIH1 ( H1P,IATIH,IGHEP1,ITIH,MGC126415,SHAP )
Gene Full Name: inter-alpha (globulin) inhibitor H1
Band: 3p21.1
Quick LinksEntrez ID:3697; OMIM: 147270; Uniprot ID:ITIH1_HUMAN; ENSEMBL ID: ENSG00000055957; HGNC ID: 6166
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576NAS-extracellular region14718574
GO:0070062IDA-extracellular exosome23376485
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0004867IEA-serine-type endopeptidase inhibitor activity-
GO:0005509TAS-calcium ion binding2446322
GO ID Evidence Qualifier GO_term References
GO:0010951IEA-negative regulation of endopeptidase activity-
GO:0030212IEA-hyaluronan metabolic process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:96618
  • 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