AutismKB 2.0

Annotation Details for MUC1


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Basic Information Top
Gene Symbol:MUC1 ( CD227,EMA,H23AG,KL-6,MAM6,PEM,PEMT,PUM )
Gene Full Name: mucin 1, cell surface associated
Band: 1q22
Quick LinksEntrez ID:4582; OMIM: 158340; Uniprot ID:MUC1_HUMAN; ENSEMBL ID: ENSG00000185499; HGNC ID: 7508
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000790IDA-nuclear chromatin15710329
GO:0005615IDA-extracellular space16502470
GO:0005796TAS-Golgi lumen-
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral component of plasma membrane1697589
GO:0016324IEA-apical plasma membrane-
GO:0031982IDA-vesicle19190083
GO:0070062IDA-extracellular exosome15326289
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding15710329
GO:0002039IPI-p53 binding15710329
GO:0003712IDA-transcription cofactor activity15710329
GO:0005515IPI-protein binding16888623
GO ID Evidence Qualifier GO_term References
GO:0002223TAS-stimulatory C-type lectin receptor signaling pathway-
GO:0006977IDA-DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest15710329
GO:0006978IDA-DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator15710329
GO:0010944IDA-negative regulation of transcription by competitive promoter binding15710329
GO:0016266TAS-O-glycan processing-
GO:0033629IDA-negative regulation of cell adhesion mediated by integrin7698991
GO:0036003IDA-positive regulation of transcription from RNA polymerase II promoter in response to stress15710329
GO:0043618IDA-regulation of transcription from RNA polymerase II promoter in response to stress15710329
GO:0090240IDA-positive regulation of histone H4 acetylation15710329
GO:1902166IDA-negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator15710329
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MUC1APC10682115020226 Affinity Capture-Western
MUC1APC11066915020226 Affinity Capture-Western
MUC1CTNNB11078809139698 9819408 11152665 11483589 11877440 12618757 12750561 Affinity Capture-Western; Reconstituted Complex
MUC1CTNNB11106699139698 9819408 11152665 11483589 11877440 12618757 12750561 Affinity Capture-Western; Reconstituted Complex
MUC1CTNND110788111181067 Affinity Capture-Western; Co-localization; Reconstituted Complex
MUC1CTNND111066911181067 Affinity Capture-Western; Co-localization; Reconstituted Complex
MUC1EGFR11066911278868 11483589 16983337 Affinity Capture-Western; Biochemical Activity
MUC1EGFR10827611278868 11483589 16983337 Affinity Capture-Western; Biochemical Activity
MUC1ERBB210837611278868 12939402 Affinity Capture-Western; Co-localization
MUC1ERBB211066911278868 12939402 Affinity Capture-Western; Co-localization
MUC1ERBB311066911278868 Affinity Capture-Western
MUC1ERBB310837711278868 Affinity Capture-Western
MUC1ERBB411066911278868 Affinity Capture-Western
MUC1ERBB410837811278868 Affinity Capture-Western
MUC1ESR110840316427018 Affinity Capture-Western; Reconstituted Complex
MUC1ESR111066916427018 Affinity Capture-Western; Reconstituted Complex
MUC1GRB21091427664271 20936779 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MUC1GRB21106697664271 20936779 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
MUC1GSK3B1091879819408 11152665 Affinity Capture-Western; Reconstituted Complex
MUC1GSK3B1106699819408 11152665 Affinity Capture-Western; Reconstituted Complex
MUC1JUP10993112939402 Affinity Capture-Western; Co-localization
MUC1JUP11066912939402 Affinity Capture-Western; Co-localization
MUC1LYN11024512750561 Affinity Capture-Western; Reconstituted Complex
MUC1LYN11066912750561 Affinity Capture-Western; Reconstituted Complex
SOS1MUC11125377664271 11278868 Affinity Capture-Western
SOS1MUC11106697664271 11278868 Affinity Capture-Western
SRCMUC111259211152665 11483589 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
SRCMUC111066911152665 11483589 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
PRKCDMUC111156611877440 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
PRKCDMUC111066911877440 Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
GALNT12MUC112281612135769 Biochemical Activity
GALNT12MUC111066912135769 Biochemical Activity
GALNT4MUC111424012754287 Biochemical Activity
GALNT4MUC111066912754287 Biochemical Activity
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97231
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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