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Aliases for MCOLN3 Gene

Aliases for MCOLN3 Gene

  • Mucolipin 3 2 3 5
  • Mucolipin-3 3
  • TRP-ML3 3
  • TRPML3 3

External Ids for MCOLN3 Gene

Previous GeneCards Identifiers for MCOLN3 Gene

  • GC01M085879
  • GC01M084622
  • GC01M084772
  • GC01M084907
  • GC01M084906
  • GC01M085195
  • GC01M085483
  • GC01M083593

Summaries for MCOLN3 Gene

Entrez Gene Summary for MCOLN3 Gene

  • This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for MCOLN3 Gene

MCOLN3 (Mucolipin 3) is a Protein Coding gene. Among its related pathways are TRP channels and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. An important paralog of this gene is MCOLN2.

Gene Wiki entry for MCOLN3 Gene

Additional gene information for MCOLN3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCOLN3 Gene

Genomics for MCOLN3 Gene

Regulatory Elements for MCOLN3 Gene

Enhancers for MCOLN3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H084959 0.8 ENCODE 29 +88.5 88489 1.1 PKNOX1 JUN MAX SIN3A CEBPG RFX5 TEAD3 CTBP1 GATA3 RCOR1 MCOLN2 MCOLN3 LPAR3
GH01H085047 1 ENCODE 20 0.0 -47 3.1 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 KLF7 SP3 REST TSHZ1 ZNF610 MCOLN3 ENSG00000271576 MCOLN2 ZNHIT6 WDR63 MIR4423
GH01H084968 0.8 ENCODE 17.2 +79.2 79198 1.8 EBF1 BATF RELA POLR2A EED ATF7 ETV6 RUNX3 IKZF2 CREM MCOLN2 MCOLN3 WDR63 LPAR3
GH01H084994 0.9 ENCODE 11.4 +53.2 53242 3.1 PKNOX1 SIN3A BMI1 BATF GLIS2 ZNF143 ZNF207 ATF7 ETV6 RUNX3 MCOLN2 MCOLN3 LPAR3
GH01H084913 0.8 ENCODE 10.1 +135.1 135105 1 ZBTB21 INSM2 FEZF1 CEBPG ZNF2 ZNF324 HIC1 ZFHX2 CTBP1 ZNF366 LPAR3 MCOLN3 MCOLN2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCOLN3 on UCSC Golden Path with GeneCards custom track

Promoters for MCOLN3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000009174 602 1001 FEZF1 GLI4 ZNF2 ZNF121 GLIS2 KLF7 SP3 REST TSHZ1 ZNF610

Genomic Locations for MCOLN3 Gene

Genomic Locations for MCOLN3 Gene
chr1:85,018,082-85,048,902
(GRCh38/hg38)
Size:
30,821 bases
Orientation:
Minus strand
chr1:85,483,765-85,514,182
(GRCh37/hg19)

Genomic View for MCOLN3 Gene

Genes around MCOLN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCOLN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCOLN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCOLN3 Gene

Proteins for MCOLN3 Gene

  • Protein details for MCOLN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDD5-MCLN3_HUMAN
    Recommended name:
    Mucolipin-3
    Protein Accession:
    Q8TDD5
    Secondary Accessions:
    • Q5T4H5
    • Q5T4H6
    • Q9NV09

    Protein attributes for MCOLN3 Gene

    Size:
    553 amino acids
    Molecular mass:
    64248 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MCOLN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCOLN3 Gene

Post-translational modifications for MCOLN3 Gene

  • Ubiquitination at posLast=536536
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MCOLN3 Gene

Domains & Families for MCOLN3 Gene

Gene Families for MCOLN3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for MCOLN3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MCOLN3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDD5

UniProtKB/Swiss-Prot:

MCLN3_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily.
genes like me logo Genes that share domains with MCOLN3: view

Function for MCOLN3 Gene

Phenotypes From GWAS Catalog for MCOLN3 Gene

Gene Ontology (GO) - Molecular Function for MCOLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity TAS --
genes like me logo Genes that share ontologies with MCOLN3: view
genes like me logo Genes that share phenotypes with MCOLN3: view

Animal Models for MCOLN3 Gene

MGI Knock Outs for MCOLN3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MCOLN3 Gene

Localization for MCOLN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCOLN3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCOLN3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2
lysosome 2
endosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MCOLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000421 autophagosome membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MCOLN3: view

Pathways & Interactions for MCOLN3 Gene

genes like me logo Genes that share pathways with MCOLN3: view

Pathways by source for MCOLN3 Gene

Interacting Proteins for MCOLN3 Gene

Gene Ontology (GO) - Biological Process for MCOLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007626 locomotory behavior IEA --
GO:0042491 auditory receptor cell differentiation IEA --
GO:0070588 calcium ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with MCOLN3: view

No data available for SIGNOR curated interactions for MCOLN3 Gene

Drugs & Compounds for MCOLN3 Gene

(7) Drugs for MCOLN3 Gene - From: DGIdb and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
SF-11 Pharma 0
SF-21 Pharma 0
SN-1 Pharma 0
SN-2 Pharma 0
Gd<sup>3+</sup> Pharma Channel blocker 0

(1) Additional Compounds for MCOLN3 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for MCOLN3 Gene

Compound Action Cas Number
MK6-83 TRPML channel activator 1062271-24-2
ML SA1 Activator of TRPML channels 332382-54-4
SN 2 Selective TRPML3 channel activator 823218-99-1
genes like me logo Genes that share compounds with MCOLN3: view

Transcripts for MCOLN3 Gene

Unigene Clusters for MCOLN3 Gene

Mucolipin 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MCOLN3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1:
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for MCOLN3 Gene

GeneLoc Exon Structure for
MCOLN3
ECgene alternative splicing isoforms for
MCOLN3

Expression for MCOLN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCOLN3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MCOLN3 Gene

This gene is overexpressed in Adrenal Gland (x10.6) and Pituitary (x6.0).

Protein differential expression in normal tissues from HIPED for MCOLN3 Gene

This gene is overexpressed in Plasma (67.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MCOLN3 Gene



Protein tissue co-expression partners for MCOLN3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MCOLN3 Gene:

MCOLN3

SOURCE GeneReport for Unigene cluster for MCOLN3 Gene:

Hs.535239
genes like me logo Genes that share expression patterns with MCOLN3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MCOLN3 Gene

Orthologs for MCOLN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCOLN3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCOLN3 33 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia MCOLN3 33 34
  • 91.74 (n)
cow
(Bos Taurus)
Mammalia MCOLN3 33 34
  • 90.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 85 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mcoln3 33 16 34
  • 84.87 (n)
rat
(Rattus norvegicus)
Mammalia Mcoln3 33
  • 84.33 (n)
oppossum
(Monodelphis domestica)
Mammalia MCOLN3 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCOLN3 33 34
  • 76.23 (n)
lizard
(Anolis carolinensis)
Reptilia MCOLN3 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln3 33
  • 72.25 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100001113 33
  • 62.24 (n)
MCOLN3 (1 of 2) 34
  • 58 (a)
OneToMany
mcoln3a 34
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta trpml 33 34
  • 50.42 (n)
CG8743 35
  • 41 (a)
CG42638 34
  • 35 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007710 33
  • 50.33 (n)
worm
(Caenorhabditis elegans)
Secernentea cup-5 35 33 34
  • 48.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10964 33
Species where no ortholog for MCOLN3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCOLN3 Gene

ENSEMBL:
Gene Tree for MCOLN3 (if available)
TreeFam:
Gene Tree for MCOLN3 (if available)

Paralogs for MCOLN3 Gene

Paralogs for MCOLN3 Gene

(2) SIMAP similar genes for MCOLN3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MCOLN3: view

Variants for MCOLN3 Gene

Sequence variations from dbSNP and Humsavar for MCOLN3 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000164194 -- 85,025,385(+) TTTGT(-/G)GGGAC intron-variant, nc-transcript-variant
rs1000225711 -- 85,035,321(+) AGTCC(C/T)ATATT intron-variant
rs1000271034 -- 85,017,618(+) TATAT(A/G)TGTGT downstream-variant-500B
rs1000460804 -- 85,042,687(+) TGCTG(C/T)AATTC intron-variant
rs1000572675 -- 85,036,953(+) TATCA(A/G)TTCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MCOLN3 Gene

Variant ID Type Subtype PubMed ID
nsv947434 CNV duplication 23825009
nsv830448 CNV loss 17160897
nsv546700 CNV gain 21841781
nsv470724 CNV gain 18288195
nsv462383 CNV gain 19166990

Variation tolerance for MCOLN3 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCOLN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCOLN3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCOLN3 Gene

Disorders for MCOLN3 Gene

Relevant External Links for MCOLN3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCOLN3

No disorders were found for MCOLN3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MCOLN3 Gene

Publications for MCOLN3 Gene

  1. Functional multimerization of mucolipin channel proteins. (PMID: 19885840) Curcio-Morelli C … Slaugenhaupt SA (Journal of cellular physiology 2010) 3 22 60
  2. The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway. (PMID: 19497048) Martina JA … Puertollano R (Traffic (Copenhagen, Denmark) 2009) 3 22 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham DE … Schultz G (Pharmacological reviews 2005) 2 3 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for MCOLN3 Gene

Sources for MCOLN3 Gene

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