Gene Gene information from NCBI Gene database.
Entrez ID 118430
Gene name Mucin like 1
Gene symbol MUCL1
Synonyms (NCBI Gene)
SBEM
Chromosome 12
Chromosome location 12q13.2
miRNA miRNA information provided by mirtarbase database.
20
miRTarBase ID miRNA Experiments Reference
MIRT1166420 hsa-miR-488 CLIP-seq
MIRT2276861 hsa-miR-1244 CLIP-seq
MIRT2276862 hsa-miR-1255a CLIP-seq
MIRT2276863 hsa-miR-1255b CLIP-seq
MIRT2276864 hsa-miR-1303 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005796 Component Golgi lumen TAS
GO:0005886 Component Plasma membrane TAS
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610857 30588 ENSG00000172551
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DR8
Protein name Mucin-like protein 1 (Protein BS106) (Small breast epithelial mucin)
Protein function May play a role as marker for the diagnosis of metastatic breast cancer.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in mammary, salivary glands and prostate. Also detected in lung. Mainly expressed in cancer cell lines of breast origin. Highly expressed in lymph node-positive compared with node-negative tumors. Detected in all lymph node c
Sequence
MKFLAVLVLLGVSIFLVSAQNPTTAAPADTYPATGPADDEAPDAETTAAATTATTAAPTT
ATTAASTTARKDIPVLPKWVGDLPNGRVCP
Sequence length 90
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    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
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLOOD COAGULATION DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 15788668
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15096563, 16720387, 18253069, 18497056, 19221791, 20364301, 20560667, 26364839, 26725324
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15096563, 18253069, 18269587, 19221791, 26725324, 32627029, 35059735, 37477531 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 31568004 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35059735 Associate
★☆☆☆☆
Found in Text Mining only
Ductal Carcinoma Ductal Carcinoma BEFREE 12019145, 15785316
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 26725324 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 15096563, 16720387, 18253069, 18269587, 18497056, 19221791, 20364301, 20560667, 26364839, 26725324
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 18497056
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 12019145, 15684711, 16720387, 26725324
★☆☆☆☆
Found in Text Mining only