AutismKB 2.0

Annotation Detail for NAGLU


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Basic Information Top
Gene Symbol:NAGLU ( MPS-IIIB,MPS3B,NAG,UFHSD )
Gene Full Name: N-acetylglucosaminidase, alpha
Band: 17q21.2
Quick LinksEntrez ID:4669; OMIM: 609701; Uniprot ID:ANAG_HUMAN; ENSEMBL ID: ENSG00000108784; HGNC ID: 7632
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
261N-linked (GlcNAc...) (Potential).
272N-linked (GlcNAc...) (Potential).
435N-linked (GlcNAc...) (Potential).
503N-linked (GlcNAc...) (Potential).
526N-linked (GlcNAc...) (Potential).
532N-linked (GlcNAc...).
Location(AA) Modifications Resource
261N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
272N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
503N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
526N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
532N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
80Phosphoserine(PKG)HMM predict
261N-linkedHMM predict
272N-linkedHMM predict
335Phosphotyrosine(SRC)HMM predict
396Phosphoserine(CAMK2)HMM predict
435N-linkedHMM predict
455Phosphotyrosine(SRC)HMM predict
503N-linkedHMM predict
526N-linkedHMM predict
532N-linkedHMM predict
546O-linkedHMM predict
549O-linkedHMM predict
549O-linkedHMM predict
552O-linkedHMM predict
553Phosphoserine(CDC2)HMM predict
553Phosphoserine(CDK)HMM predict
553PhosphoserineHMM predict
717Phosphoserine(ATM)HMM predict
717PhosphoserineHMM predict
730IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000263
  • Location:chr17 37941476-37949989
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 37936459 37936613 154 4941
H3ac HepG2E 37938679 37939729 1050 2273
TAF k562GSE8489 37941077 37941530 453 173
TFAP2C MCF7GSE21234 37937024 37937386 362 4272
USF1 HepG2E 37938893 37939729 836 2166
USF1 HepG2E 37941077 37941753 676 62
USF2 HepG2E 37938994 37939559 565 2200
USF2 HepG2E 37941077 37941611 534 133
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 37952300 37952693 393 2507
LIN9 SGSE7516 37953111 37953546 435 3339
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 37941170 37942052 882 0
Myc hESGSE17917 37942015 37942212 197 0
STAT1 HeLaGSE12783 37946169 37947829 1660 0
USF1 HepG2E 37946266 37946596 330 0
hScc1 BcellGSE12603 37941530 37942212 682 0
hScc1 CdLSGSE12603 37941793 37942583 790 0
p130 shRbSenescentGSE19898 37941602 37941811 209 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-133a hsa-mir-133a-1 18 18644447
hsa-miR-133a hsa-mir-133a-2 20 18644447
hsa-miR-133b hsa-mir-133b 6 18644447
No data
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