MUCL1 mucin like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUCL1provided by HGNC
Official Full Name: mucin like 1provided by HGNC
Primary source: HGNC:HGNC:30588
See related: Ensembl:ENSG00000172551 MIM:610857; AllianceGenome:HGNC:30588
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SBEM
Summary: Predicted to be located in Golgi lumen and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in salivary gland (RPKM 37.1), skin (RPKM 4.7) and 1 other tissue See more
Orthologs: all
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Genomic context

Location:: 12q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54830681..54858387)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (54821154..54825025)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (55248300..55252171)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miRNA-186-5p inhibits migration, invasion and proliferation of breast cancer cells by targeting SBEM.
Title: miRNA-186-5p inhibits migration, invasion and proliferation of breast cancer cells by targeting SBEM.
The mucin protein MUCL1 regulates melanogenesis and melanoma genes in a manner dependent on threonine content.
Title: The mucin protein MUCL1 regulates melanogenesis and melanoma genes in a manner dependent on threonine content.
Targeting MUCL1 protein inhibits cell proliferation and EMT by deregulating betacatenin and increases irinotecan sensitivity in colorectal cancer.
Title: Targeting MUCL1 protein inhibits cell proliferation and EMT by deregulating β‑catenin and increases irinotecan sensitivity in colorectal cancer.
Small breast epithelial mucin promotes the invasion and metastasis of breast cancer cells via promoting epithelialtomesenchymal transition.
Title: Small breast epithelial mucin promotes the invasion and metastasis of breast cancer cells via promoting epithelial‑to‑mesenchymal transition.
an important role for MUCL1 in the proliferation of breast cancer cells
Title: HER2 drives Mucin-like 1 to control proliferation in breast cancer cells.
SBEM has the potential to be a specific marker for predicting hematogenous micrometastasis and response to neoadjuvant chemotherapy in breast cancer.
Title: Small breast epithelial mucin (SBEM) has the potential to be a marker for predicting hematogenous micrometastasis and response to neoadjuvant chemotherapy in breast cancer.
The SBEM might a suitable marker for molecular detection of ITCs in BM in breast cancer patients. Analysis of prognostic value for SBEM mRNA-based assay should take into account the heterogeneity and different molecular subtypes of breast cancer.
Title: Diagnostic accuracy of small breast epithelial mucin mRNA as a marker for bone marrow micrometastasis in breast cancer: a pilot study.
results demonstrate that SBEM mRNA may be an important marker for targeting breast cancer micrometastasis
Title: In silico and in vitro analysis of small breast epithelial mucin as a marker for bone marrow micrometastasis in breast cancer.
SBEM may identify a unique subset of breast cancers with poor prognosis and have implications for therapeutic management.
Title: Expression of small breast epithelial mucin (SBEM) protein in tissue microarrays (TMAs) of primary invasive breast cancers.
octamer-binding transcription factors participate in the strong expression of SBEM gene in breast tissues
Title: Identification of an octamer-binding site controlling the activity of the small breast epithelial mucin gene promoter.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mucin-like protein 1

Names: small breast epithelial mucin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.