AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
60S-linked (Hex...).
184Phagocytosis uptake signal (Potential).
285N-linked (GlcNAc...) (complex).
402Phosphothreonine.
407Phosphothreonine.
504Phosphotyrosine.
588N-linked (GlcNAc...) (complex).
653O-linked (GalNAc...).
672Aspartate 1-(chondroitin 4-sulfate)-
750N-linked (GlcNAc...).
Location(AA) Modifications Resource
60S-linked (Hex...).Swiss-Prot 53.0
285N-linked (GlcNAc...) (complex)./FTId=CAR
588N-linked (GlcNAc...) (complex)./FTId=CAR
653O-linked (GalNAc...)./FTId=CAR
Location(AA) Modification Resource
129Phosphoserine(PKG)HMM predict
220Phosphothreonine(PKC)HMM predict
239Phosphoserine(ATM)HMM predict
243Phosphoserine(IKK)HMM predict
243O-linkedHMM predict
285N-linkedHMM predict
288N-linkedHMM predict
290N-linkedHMM predict
311Phosphothreonine(PKC)HMM predict
339Phosphoserine(CAMK2)HMM predict
459Phosphotyrosine(Syk)HMM predict
504Phosphotyrosine(EGFR)HMM predict
588N-linkedHMM predict
655O-linkedHMM predict
750N-linkedHMM predict
754N-linkedHMM predict
866Phosphothreonine(PKC)HMM predict
905Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002215
  • Location:chr3 52786647-52801116
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 52784092 52784648 556 2278
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 52801942 52802297 355 1003
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 52787619 52788503 884 0
CTCF G2GSE9613 52792903 52793303 400 0
CTCF G2GSE9613 52794097 52794713 616 0
CTCF G2GSE9613 52796305 52796984 679 0
CTCF G2GSE9613 52797285 52797541 256 0
CTCF G2GSE9613 52798565 52799023 458 0
CTCF G2GSE9613 52800541 52800814 273 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
18161 mRNA ITIH1 chr3 52786647 52801117 1749 HTC chr3 52792278 52801118Sense/Antisense (SA) pairs

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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