AutismKB 2.0

Annotation Detail for ITGB1


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Basic Information Top
Gene Symbol:ITGB1 ( CD29,FNRB,GPIIA,MDF2,MSK12,VLA-BETA,VLAB )
Gene Full Name: integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
Band: 10p11.22
Quick LinksEntrez ID:3688; OMIM: 135630; Uniprot ID:ITB1_HUMAN; ENSEMBL ID: ENSG00000150093; HGNC ID: 6153
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
50N-linked (GlcNAc...) (Potential).
94N-linked (GlcNAc...) (Potential).
97N-linked (GlcNAc...) (Potential).
186Phosphoserine (By similarity).
212N-linked (GlcNAc...).
269N-linked (GlcNAc...) (Potential).
363N-linked (GlcNAc...) (Potential).
403N-linked (GlcNAc...).
406N-linked (GlcNAc...).
411N-linked (GlcNAc...).
417N-linked (GlcNAc...) (Potential).
481N-linked (GlcNAc...).
520N-linked (GlcNAc...) (Potential).
584N-linked (GlcNAc...) (Potential).
669N-linked (GlcNAc...).
777Phosphothreonine.
783Phosphotyrosine.
794N6-acetyllysine.
795Phosphotyrosine.
Location(AA) Modifications Resource
50N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
94N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
97N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
212N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
269N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
363N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
406N-linked (GlcNAc...).Swiss-Prot 53.0
417N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
481N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
520N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
584N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
669N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
783Phosphotyrosine (By similarity).Swiss-Prot 53.0
788PhosphothreoninePhospho.ELM 6.0
789PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
50N-linkedHMM predict
94N-linkedHMM predict
97N-linkedHMM predict
146SulfotyrosineHMM predict
177Phosphothreonine(PKA)HMM predict
178Phosphoserine(PKA)HMM predict
212N-linkedHMM predict
269N-linkedHMM predict
316SulfotyrosineHMM predict
363N-linkedHMM predict
366N-linkedHMM predict
406N-linkedHMM predict
411N-linkedHMM predict
481N-linkedHMM predict
520N-linkedHMM predict
584N-linkedHMM predict
593O-linkedHMM predict
669N-linkedHMM predict
783Phosphotyrosine(EGFR)HMM predict
783Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002211
  • Location:chr10 33229326-33287203
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 33287945 33288543 598 1041
H3K4me3 colorectalcancer 33287909 33288920 1011 1211
H3ac HepG2E 33287657 33289182 1525 1216
TAF HelaGSE8489 33287728 33289182 1454 1252
TAF k562GSE8489 33287728 33289107 1379 1214
p130 QuiescentGSE19898 33287277 33287960 683 415
p130 SenescentGSE19898 33287290 33287922 632 403
p130 shRbQuiescentGSE19898 33287278 33287888 610 380
p130 shRbSenescentGSE19898 33287314 33288000 686 454
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb shRbQuiescentGSE19898 33222477 33222707 230 6735
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 33286572 33287813 1241 0
PHF8 HeLaGSE20725 33286227 33288001 1774 0
hScc1 BcellGSE12603 33286794 33287468 674 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 18158990
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 21112327
hsa-miR-124 hsa-mir-124-2 8 21112327
hsa-miR-124 hsa-mir-124-3 20 21112327
hsa-miR-124 hsa-mir-124-1 8 17344415
hsa-miR-124 hsa-mir-124-2 8 17344415
hsa-miR-124 hsa-mir-124-3 20 17344415
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-143 hsa-mir-143 5 18158990
hsa-miR-143* hsa-mir-143 5 18158990
hsa-miR-183 hsa-mir-183 7 19940135
hsa-miR-183* hsa-mir-183 7 19940135
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
379 Unknown MicroArray miR-124 ITGB1 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000150093 G1-to-S transition n_a n_a "squamous cell, epithelium, lymphocyte, muscle cell, lymphoblast" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma, tumour"
Cis-Nats regulation Top

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