ENSG00000185499


Homo sapiens

Features
Gene ID: ENSG00000185499
  
Biological name :MUC1
  
Synonyms : MUC1 / mucin 1, cell surface associated / P15941
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: q22
Gene start: 155185824
Gene end: 155192916
  
Corresponding Affymetrix probe sets: 207847_s_at (Human Genome U133 Plus 2.0 Array)   211695_x_at (Human Genome U133 Plus 2.0 Array)   213693_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357381
Ensembl peptide - ENSP00000357383
Ensembl peptide - ENSP00000484824
Ensembl peptide - ENSP00000484730
Ensembl peptide - ENSP00000484006
Ensembl peptide - ENSP00000483581
Ensembl peptide - ENSP00000483482
Ensembl peptide - ENSP00000483473
Ensembl peptide - ENSP00000483128
Ensembl peptide - ENSP00000482988
Ensembl peptide - ENSP00000482688
Ensembl peptide - ENSP00000481231
Ensembl peptide - ENSP00000480335
Ensembl peptide - ENSP00000480333
Ensembl peptide - ENSP00000479471
Ensembl peptide - ENSP00000478068
Ensembl peptide - ENSP00000389098
Ensembl peptide - ENSP00000388172
Ensembl peptide - ENSP00000338983
Ensembl peptide - ENSP00000339690
Ensembl peptide - ENSP00000342814
Ensembl peptide - ENSP00000343482
Ensembl peptide - ENSP00000357374
Ensembl peptide - ENSP00000357375
Ensembl peptide - ENSP00000357377
Ensembl peptide - ENSP00000357378
NCBI entrez gene - 4582     See in Manteia.
OMIM - 158340
RefSeq - NM_001044392
RefSeq - NM_002456
RefSeq - NM_001204297
RefSeq - NM_001204296
RefSeq - NM_001204295
RefSeq - NM_001204294
RefSeq - NM_001204293
RefSeq - NM_001204292
RefSeq - NM_001204291
RefSeq - NM_001204290
RefSeq - NM_001204289
RefSeq - NM_001204288
RefSeq - NM_001204287
RefSeq - NM_001204286
RefSeq - NM_001204285
RefSeq - NM_001044393
RefSeq - NM_001018016
RefSeq - NM_001018017
RefSeq - NM_001044390
RefSeq - NM_001044391
RefSeq Peptide - NP_001191215
RefSeq Peptide - NP_001018017
RefSeq Peptide - NP_001037855
RefSeq Peptide - NP_001037856
RefSeq Peptide - NP_001037857
RefSeq Peptide - NP_001037858
RefSeq Peptide - NP_001191214
RefSeq Peptide - NP_001191216
RefSeq Peptide - NP_001191217
RefSeq Peptide - NP_001191218
RefSeq Peptide - NP_001191219
RefSeq Peptide - NP_001191220
RefSeq Peptide - NP_001191221
RefSeq Peptide - NP_001191222
RefSeq Peptide - NP_001191223
RefSeq Peptide - NP_001191224
RefSeq Peptide - NP_001191225
RefSeq Peptide - NP_001191226
RefSeq Peptide - NP_002447
RefSeq Peptide - NP_001018016
swissprot - A0A087WTR1
swissprot - A0A087WVJ0
swissprot - A0A087WWM1
swissprot - A0A087WWM2
swissprot - A0A087WZI8
swissprot - A0A087WZZ6
swissprot - A0A087X061
swissprot - A0A087X0L2
swissprot - A0A087X2A4
swissprot - A0A0A0MRB3
swissprot - A0A0A0MSH4
swissprot - A0A0C4DGW3
swissprot - A6ZIE3
swissprot - A6ZIE4
swissprot - B1AVQ7
swissprot - Q7Z536
swissprot - B6ECB5
swissprot - P15941
Ensembl - ENSG00000185499
  
Related genetic diseases (OMIM): 174000 - Medullary cystic kidney disease 1, 174000
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Muc1ENSMUSG00000042784Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000082  SEA domain
 IPR036364  SEA domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002223 stimulatory C-type lectin receptor signaling pathway TAS
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IDA
 biological_processGO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA
 biological_processGO:0010944 negative regulation of transcription by competitive promoter binding IDA
 biological_processGO:0016266 O-glycan processing TAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0033629 negative regulation of cell adhesion mediated by integrin IDA
 biological_processGO:0036003 positive regulation of transcription from RNA polymerase II promoter in response to stress IDA
 biological_processGO:0043618 regulation of transcription from RNA polymerase II promoter in response to stress IDA
 biological_processGO:0090240 positive regulation of histone H4 acetylation IDA
 biological_processGO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator IDA
 cellular_componentGO:0000790 nuclear chromatin IDA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005796 Golgi lumen TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0031982 vesicle HDA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0002039 p53 binding IPI
 molecular_functionGO:0003712 transcription coregulator activity IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
Interleukin-4 and Interleukin-13 signaling
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000089 Renal hypoplasia 
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 HP:0000092 Tubular atrophy 
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 HP:0000096 Glomerulosclerosis 
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 HP:0000108 Corticomedullary cysts 
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 HP:0000127 Renal salt wasting 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0001903 Anemia 
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 HP:0001970 Tubulointerstitial nephritis 
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 HP:0001997 Gout 
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 HP:0002048 Renal cortical atrophy 
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 HP:0002120 Cerebral cortical atrophy 
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 HP:0002615 Hypotension 
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 HP:0003259 Increased creatinine 
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 HP:0003581 Onset in adulthood 
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 HP:0003774 End stage renal disease 
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 HP:0004732 impaired renal uric acid clearance 
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 HP:0005576 Tubulointerstitial fibrosis 
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 HP:0005583 Tubular basement membrane disintegration 
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 HP:0012213 Decreased glomerular filtration rate "An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman s capsules per unit of time." [HP:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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