MUC1 (mucin 1, cell surface associated)

2003-02-01  

Identity

HGNC
MUC1
LOCATION
1q22
LOCUSID
4582
ALIAS
ADMCKD,ADMCKD1,ADTKD2,CA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4582
MIM: 158340
HGNC: 7508
Ensembl: ENSG00000185499

Variants:

dbSNP: 4582
ClinVar: 4582
TCGA: ENSG00000185499
COSMIC: MUC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185499ENST00000337604P15941
ENSG00000185499ENST00000338684A0A0A0MRB3
ENSG00000185499ENST00000342482P15941
ENSG00000185499ENST00000343256P15941
ENSG00000185499ENST00000368389P15941
ENSG00000185499ENST00000368390P15941
ENSG00000185499ENST00000368392P15941
ENSG00000185499ENST00000368393P15941
ENSG00000185499ENST00000368396P15941
ENSG00000185499ENST00000368396A0A384NPK6
ENSG00000185499ENST00000368398P15941
ENSG00000185499ENST00000438413B1AVQ7
ENSG00000185499ENST00000457295A0A0A0MSH4
ENSG00000185499ENST00000462215A0A087WWM2
ENSG00000185499ENST00000462317A0A087WVJ0
ENSG00000185499ENST00000467134B6ECB5
ENSG00000185499ENST00000471283Q7Z536
ENSG00000185499ENST00000485118A0A087WTR1
ENSG00000185499ENST00000498431A0A087X061
ENSG00000185499ENST00000610359A0A087X0L2
ENSG00000185499ENST00000610468A0A087WZI8
ENSG00000185499ENST00000611571A0A087WWM1
ENSG00000185499ENST00000611577A6ZIE3
ENSG00000185499ENST00000612778A0A087X2A4
ENSG00000185499ENST00000614519A0A087WZZ6
ENSG00000185499ENST00000615517A6ZIE4
ENSG00000185499ENST00000620103A0A0C4DGW3

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709
Termination of O-glycan biosynthesisREACTOMER-HSA-977068
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
C-type lectin receptors (CLRs)REACTOMER-HSA-5621481
Dectin-2 familyREACTOMER-HSA-5621480
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)REACTOMER-HSA-5083632
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)REACTOMER-HSA-5083625
Defective GALNT12 causes colorectal cancer 1 (CRCS1)REACTOMER-HSA-5083636
Interleukin-4 and 13 signalingREACTOMER-HSA-6785807

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
375845472024MUC1 promotes lymph node metastasis in esophageal squamous cell carcinoma by downregulating DNAJB6 expression.0
379443812024Disease progression and changes in KL-6 in patients with limited cutaneous systemic sclerosis-associated interstitial lung disease.0
383553872024Eliminating the concept of unknown chronic kidney disease: 2 cases of autosomal dominant tubulointerstitial nephropathy with pathogenic variant MUC-1.0
385476902024Mucin 1 and venous thrombosis in tumor-bearing mice and patients with cancer.1
386192872024Identification of MUC1-C as a Target for Suppressing Progression of Head and Neck Squamous Cell Carcinomas.1
387169422024Evaluation of mucin-1, nuclear factor κB, and hemoglobin A1c levels in obese and non-obese individuals.0
387408272024XIST and MUC1-C form an auto-regulatory pathway in driving cancer progression.1
387640102024NSUN2 affects diabetic retinopathy progression by regulating MUC1 expression through RNA m(5)C methylation.0
375845472024MUC1 promotes lymph node metastasis in esophageal squamous cell carcinoma by downregulating DNAJB6 expression.0
379443812024Disease progression and changes in KL-6 in patients with limited cutaneous systemic sclerosis-associated interstitial lung disease.0
383553872024Eliminating the concept of unknown chronic kidney disease: 2 cases of autosomal dominant tubulointerstitial nephropathy with pathogenic variant MUC-1.0
385476902024Mucin 1 and venous thrombosis in tumor-bearing mice and patients with cancer.1
386192872024Identification of MUC1-C as a Target for Suppressing Progression of Head and Neck Squamous Cell Carcinomas.1
387169422024Evaluation of mucin-1, nuclear factor κB, and hemoglobin A1c levels in obese and non-obese individuals.0
387408272024XIST and MUC1-C form an auto-regulatory pathway in driving cancer progression.1

Citation

Dessen P

MUC1 (mucin 1, cell surface associated)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41453/teaching-explorer/gene-fusions-explorer/css/template-nav.css