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MUC1 (mucin 1, cell surface associated)

Identity

Other namesADMCKD
ADMCKD1
CA 15-3
CD227
EMA
H23AG
KL-6
MAM6
MCD
MCKD
MCKD1
MUC-1
MUC-1/SEC
MUC-1/X
MUC1/ZD
PEM
PEMT
PUM
HGNC (Hugo) MUC1
LocusID (NCBI) 4582
Location 1q22
Location_base_pair Starts at 155158300 and ends at 155162706 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029

External links

Nomenclature
HGNC (Hugo)MUC1   7508
Cards
Entrez_Gene (NCBI)MUC1  4582  mucin 1, cell surface associated
GeneCards (Weizmann)MUC1
Ensembl hg19 (Hinxton)ENSG00000185499 [Gene_View]  chr1:155158300-155162706 [Contig_View]  MUC1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000185499 [Gene_View]  chr1:155158300-155162706 [Contig_View]  MUC1 [Vega]
ICGC DataPortalENSG00000185499
cBioPortalMUC1
AceView (NCBI)MUC1
Genatlas (Paris)MUC1
WikiGenes4582
SOURCE (Princeton)MUC1
Genomic and cartography
GoldenPath hg19 (UCSC)MUC1  -     chr1:155158300-155162706 -  1q22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MUC1  -     1q22   [Description]    (hg38-Dec_2013)
EnsemblMUC1 - 1q22 [CytoView hg19]  MUC1 - 1q22 [CytoView hg38]
Mapping of homologs : NCBIMUC1 [Mapview hg19]  MUC1 [Mapview hg38]
OMIM158340   174000   
Gene and transcription
Genbank (Entrez)AA425062 AF125525 AF348143 AK301575 AY327582
RefSeq transcript (Entrez)NM_001018016 NM_001018017 NM_001018021 NM_001044390 NM_001044391 NM_001044392 NM_001044393 NM_001204285 NM_001204286 NM_001204287 NM_001204288 NM_001204289 NM_001204290 NM_001204291 NM_001204292 NM_001204293 NM_001204294 NM_001204295 NM_001204296 NM_001204297 NM_002456 NM_182741
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_029383 NT_004487 NW_001838531 NW_004929293
Consensus coding sequences : CCDS (NCBI)MUC1
Cluster EST : UnigeneHs.89603 [ NCBI ]
CGAP (NCI)Hs.89603
Alternative Splicing : Fast-db (Paris)GSHG0002571
Alternative Splicing GalleryENSG00000185499
Gene ExpressionMUC1 [ NCBI-GEO ]     MUC1 [ SEEK ]   MUC1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15941 (Uniprot)
NextProtP15941  [Medical]
With graphics : InterProP15941
Splice isoforms : SwissVarP15941 (Swissvar)
Domaine pattern : Prosite (Expaxy)SEA (PS50024)   
Domains : Interpro (EBI)Mucin-1    SEA_dom   
Related proteins : CluSTrP15941
Domain families : Pfam (Sanger)SEA (PF01390)   
Domain families : Pfam (NCBI)pfam01390   
Domain families : Smart (EMBL)SEA (SM00200)  
DMDM Disease mutations4582
Blocks (Seattle)P15941
PDB (SRS)1SM3    2ACM    2FO4   
PDB (PDBSum)1SM3    2ACM    2FO4   
PDB (IMB)1SM3    2ACM    2FO4   
PDB (RSDB)1SM3    2ACM    2FO4   
Human Protein AtlasENSG00000185499
Peptide AtlasP15941
HPRD01152
IPIIPI00013955   IPI00902840   IPI00218163   IPI00218164   IPI00218165   IPI00218166   IPI00218168   IPI00218169   IPI00607673   IPI00385165   IPI01016012   IPI00855927   IPI01025299   IPI00385161   IPI01020759   IPI00876878   IPI00844244   IPI00975472   IPI00916285   IPI00982300   IPI00852677   IPI00984154   IPI00984788   IPI00982802   IPI00385178   IPI00978078   IPI00889553   IPI00607569   IPI00385172   IPI00641632   IPI00646925   
Protein Interaction databases
DIP (DOE-UCLA)P15941
IntAct (EBI)P15941
FunCoupENSG00000185499
BioGRIDMUC1
IntegromeDBMUC1
STRING (EMBL)MUC1
Ontologies - Pathways
QuickGOP15941
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  p53 binding  transcription cofactor activity  protein binding  extracellular space  cytoplasm  Golgi lumen  integral component of plasma membrane  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  cell surface  negative regulation of transcription by competitive promoter binding  O-glycan processing  apical plasma membrane  positive regulation of transcription from RNA polymerase II promoter in response to stress  regulation of transcription from RNA polymerase II promoter in response to stress  post-translational protein modification  cellular protein metabolic process  extracellular vesicular exosome  positive regulation of histone H4 acetylation  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  p53 binding  transcription cofactor activity  protein binding  extracellular space  cytoplasm  Golgi lumen  integral component of plasma membrane  DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  cell surface  negative regulation of transcription by competitive promoter binding  O-glycan processing  apical plasma membrane  positive regulation of transcription from RNA polymerase II promoter in response to stress  regulation of transcription from RNA polymerase II promoter in response to stress  post-translational protein modification  cellular protein metabolic process  extracellular vesicular exosome  positive regulation of histone H4 acetylation  negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  
Protein Interaction DatabaseMUC1
DoCM (Curated mutations)MUC1
Wikipedia pathwaysMUC1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMUC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MUC1
dbVarMUC1
ClinVarMUC1
1000_GenomesMUC1 
Exome Variant ServerMUC1
SNP (GeneSNP Utah)MUC1
SNP : HGBaseMUC1
Genetic variants : HAPMAPMUC1
Genomic VariantsMUC1  MUC1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000185499 
Cancer Gene: CensusMUC1 
Somatic Mutations in Cancer : COSMICMUC1 
CONAN: Copy Number AnalysisMUC1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:155158300-155162706
Mutations and Diseases : HGMDMUC1
OMIM158340    174000   
MedgenMUC1
NextProtP15941 [Medical]
GENETestsMUC1
Disease Genetic AssociationMUC1
Huge Navigator MUC1 [HugePedia]  MUC1 [HugeCancerGEM]
snp3D : Map Gene to Disease4582
DGIdb (Drug Gene Interaction db)MUC1
General knowledge
Homologs : HomoloGeneMUC1
Homology/Alignments : Family Browser (UCSC)MUC1
Phylogenetic Trees/Animal Genes : TreeFamMUC1
Chemical/Protein Interactions : CTD4582
Chemical/Pharm GKB GenePA31309
Clinical trialMUC1
Cancer Resource (Charite)ENSG00000185499
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineMUC1
GoPubMedMUC1
iHOPMUC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:21:12 CET 2014

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