AutismKB 2.0

Annotation Detail for TUBA1A


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Basic Information Top
Gene Symbol:TUBA1A ( B-ALPHA-1,FLJ25113,LIS3,TUBA3 )
Gene Full Name: tubulin, alpha 1a
Band: 12q13.12
Quick LinksEntrez ID:7846; OMIM: 602529; Uniprot ID:TBA1A_HUMAN; ENSEMBL ID: ENSG00000167552; HGNC ID: 20766
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
6Phosphoserine (By similarity).
40N6-acetyllysine (By similarity).
48Phosphoserine.
272Phosphotyrosine (By similarity).
439Phosphoserine.
Location(AA) Modifications Resource
439Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
38Phosphoserine(ATM)HMM predict
82Phosphothreonine(PKC)HMM predict
94Phosphothreonine(CK2)HMM predict
165Phosphoserine(PKG)HMM predict
178O-linkedHMM predict
179O-linkedHMM predict
179O-linkedHMM predict
224Phosphotyrosine(INSR)HMM predict
277O-linkedHMM predict
380N-linkedHMM predict
432Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006009
  • Location:chr12 47864851-47869127
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAFII hESGSE17917 47868897 47869405 508 24
p130 QuiescentGSE19898 47869316 47869755 439 408
p130 SenescentGSE19898 47868990 47869758 768 247
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47853045 47853221 176 11719
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47865221 47865652 431 0
CTCF G2GSE9613 47866587 47866723 136 0
CTCF G2GSE9613 47868214 47869168 954 0
ER MCF7GSE19013 47867830 47868768 938 0
FOXA1 MCF7GSE15244 47868483 47869168 685 0
Pol2 GM12878GSE19551 47868372 47869505 1133 0
RARA MCF7GSE15244 47866448 47866828 380 0
RARG MCF7GSE15244 47866448 47866828 380 0
Rb QuiescentGSE19898 47868373 47868899 526 0
hScc1 BcellGSE12603 47868323 47868822 499 0
hScc1 CdLSGSE12603 47868566 47869329 763 0
p130 QuiescentGSE19898 47868980 47869222 242 0
p130 SenescentGSE19898 47867828 47868698 870 0
p130 shRbSenescentGSE19898 47868743 47869304 561 0
Validated miRNA targets Top
No data
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
602 mRNA repression TRUE miR-30a-3p tuba3 n_a 16239240
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000167552 n_a n_a n_a "epithelium, squamous cell, lymphocyte, leukocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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