AutismKB 2.0

Annotation Details for MBD1


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Basic Information Top
Gene Symbol:MBD1 ( CXXC3,PCM1,RFT )
Gene Full Name: methyl-CpG binding domain protein 1
Band: 18q21.1
Quick LinksEntrez ID:4152; OMIM: 156535; Uniprot ID:MBD1_HUMAN; ENSEMBL ID: ENSG00000141644; HGNC ID: 6916
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000790IEA-nuclear chromatin-
GO:0005634NAS-nucleus10454587
GO:0005737IEA-cytoplasm-
GO:0016363ISS-nuclear matrix-
GO:0016607ISS-nuclear speck-
GO ID Evidence Qualifier GO_term References
GO:0003677TAS-DNA binding9774669
GO:0003682IEA-chromatin binding-
GO:0005515IPI-protein binding12665582
GO:0008270IEA-zinc ion binding-
GO:0008327IDA-methyl-CpG binding25284789
GO:0008327NAS-methyl-CpG binding10454587
GO:0010385IDA-double-stranded methylated DNA binding11371345
GO ID Evidence Qualifier GO_term References
GO:0006366TAS-transcription from RNA polymerase II promoter9774669
GO:0007507IEA-heart development-
GO:0007568IEA-aging-
GO:0030182IEA-neuron differentiation-
GO:0031667IEA-response to nutrient levels-
GO:0032355IEA-response to estradiol-
GO:0042220IEA-response to cocaine-
GO:0042493IEA-response to drug-
GO:0044030IEA-regulation of DNA methylation-
GO:0045892NAS-negative regulation of transcription, DNA-templated10454587
GO:0048712IEA-negative regulation of astrocyte differentiation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
ATF7IPMBD112084912665582 15691849 16757475 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ATF7IPMBD111032212665582 15691849 16757475 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CBX5MBD111703012697822 12711603 Affinity Capture-Western; Co-localization; Reconstituted Complex
CBX5MBD111032212697822 12711603 Affinity Capture-Western; Co-localization; Reconstituted Complex
CHAF1AMBD111032212697822 15327775 17066076 Affinity Capture-Western; Two-hybrid
CHAF1AMBD111534912697822 15327775 17066076 Affinity Capture-Western; Two-hybrid
SUV39H1MBD111032212711603 Affinity Capture-Western; Co-localization; Reconstituted Complex
SUV39H1MBD111270612711603 Affinity Capture-Western; Co-localization; Reconstituted Complex
PCNAMBD111032215327775 Affinity Capture-Western
PCNAMBD111114215327775 Affinity Capture-Western
HIST1H3AMBD111032215327775 Affinity Capture-Western
HIST1H3AMBD111394615327775 Affinity Capture-Western
SETDB1MBD111520215327775 17066076 Affinity Capture-Western; Two-hybrid
SETDB1MBD111032215327775 17066076 Affinity Capture-Western; Two-hybrid
ATF7IP2MBD111032215691849 Reconstituted Complex
ATF7IP2MBD112309715691849 Reconstituted Complex
PRAM1MBD111032216432238 Affinity Capture-Western
PRAM1MBD112389416432238 Affinity Capture-Western
HDAC3MBD111032216432238 Affinity Capture-Western
HDAC3MBD111436816432238 Affinity Capture-Western
PIAS1MBD111032217066076 19074829 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PIAS1MBD111412417066076 19074829 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PIAS2MBD111032217066076 Reconstituted Complex; Two-hybrid
PIAS2MBD111452317066076 Reconstituted Complex; Two-hybrid
RNF2MBD111032217428788 Affinity Capture-Western; Reconstituted Complex
RNF2MBD111197217428788 Affinity Capture-Western; Reconstituted Complex
CBX4MBD111032217428788 Affinity Capture-Western; Reconstituted Complex
CBX4MBD111410517428788 Affinity Capture-Western; Reconstituted Complex
STAT1MBD111032219074829 Affinity Capture-Western
STAT1MBD111264919074829 Affinity Capture-Western
ZNF512BMBD111032220211142 Two-hybrid
ZNF512BMBD112154320211142 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1333811
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (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