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Aliases for MCOLN3 Gene

Aliases for MCOLN3 Gene

  • Mucolipin 3 2 3 5
  • 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 Ion channel transport and TRP channels. An important paralog of this gene is MCOLN2.

Gene Wiki entry for MCOLN3 Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around MCOLN3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCOLN3 Gene

Chromosome:
1
Start:
85,018,082 bp from pter
End:
85,048,902 bp from pter
Size:
30,821 bases
Orientation:
Minus strand

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

Proteomics data for MCOLN3 Gene at MOPED

Post-translational modifications for MCOLN3 Gene

  • Ubiquitination at Lys 536
  • Modification sites at PhosphoSitePlus

Other Protein References for MCOLN3 Gene

Antibody Products

No data available for DME Specific Peptides for MCOLN3 Gene

Domains & Families for MCOLN3 Gene

Gene Families for MCOLN3 Gene

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

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

Animal Models for MCOLN3 Gene

MGI Knock Outs for MCOLN3:

Animal Model Products

  • Taconic Biosciences Mouse Models for MCOLN3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MCOLN3 Gene COMPARTMENTS Subcellular localization image for MCOLN3 gene
Compartment Confidence
plasma membrane 5
cytosol 2
endosome 2
lysosome 2
nucleus 2
vacuole 2

Gene Ontology (GO) - Cellular Components for MCOLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm 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

Selected Interacting proteins: Q8TDD5-MCLN3_HUMAN for MCOLN3 Gene via I2D

Symbol External ID(s) Details
DENR
TNF

Gene Ontology (GO) - Biological Process for MCOLN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034220 ion transmembrane transport TAS --
GO:0042491 auditory receptor cell differentiation IEA --
GO:0055085 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

(5) 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

(4) Additional Compounds for MCOLN3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Gadolinium chloride
10138-52-0
MK6-83
1062271-24-2
ML SA1
332382-54-4
SN 2
823218-99-1

(4) Tocris Compounds for MCOLN3 Gene

Compound Action Cas Number
Gadolinium chloride Stretch-activated calcium channel blocker; calcium-sensing receptor agonist 10138-52-0
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:

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 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



SOURCE GeneReport for Unigene cluster for MCOLN3 Gene Hs.535239

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

Protein tissue co-expression partners for MCOLN3 Gene

- Elite partner

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MCOLN3 35
  • 90.42 (n)
  • 92.77 (a)
MCOLN3 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCOLN3 35
  • 91.74 (n)
  • 93.67 (a)
MCOLN3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcoln3 35
  • 84.87 (n)
  • 91.14 (a)
Mcoln3 16
Mcoln3 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MCOLN3 35
  • 99.76 (n)
  • 99.82 (a)
MCOLN3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcoln3 35
  • 84.33 (n)
  • 91.68 (a)
oppossum
(Monodelphis domestica)
Mammalia MCOLN3 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 79 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
chicken
(Gallus gallus)
Aves MCOLN3 35
  • 76.23 (n)
  • 81.85 (a)
MCOLN3 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCOLN3 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcoln3 35
  • 72.25 (n)
  • 74.86 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100001113 35
  • 62.24 (n)
  • 61.42 (a)
MCOLN3 (1 of 2) 36
  • 58 (a)
OneToMany
mcoln3a 36
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8743 37
  • 41 (a)
trpml 35
  • 50.42 (n)
  • 44.03 (a)
CG42638 36
  • 35 (a)
ManyToMany
trpml 36
  • 35 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007710 35
  • 50.33 (n)
  • 42.49 (a)
worm
(Caenorhabditis elegans)
Secernentea cup-5 37
  • 36 (a)
cup-5 35
  • 48.74 (n)
  • 37.31 (a)
cup-5 36
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10964 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
Species with no ortholog for MCOLN3:
  • 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
rs817986 -- 85,036,469(-) gctca(C/T)gcctg intron-variant
rs893618 -- 85,048,087(-) GCCAG(A/G)GCTCA intron-variant, upstream-variant-2KB
rs898037 -- 85,041,193(+) AAAAA(A/G)GAAAA intron-variant
rs1129722 -- 85,018,368(-) GTAAC(A/T)CAATG nc-transcript-variant, utr-variant-3-prime
rs1458401 -- 85,042,171(+) TTCCT(A/C)ATACA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830448 CNV Loss 17160897
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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 67
  2. Functional multimerization of mucolipin channel proteins. (PMID: 19885840) Curcio-Morelli C. … Slaugenhaupt S.A. (J. Cell. Physiol. 2010) 3 23
  3. The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway. (PMID: 19497048) Martina J.A. … Puertollano R. (Traffic 2009) 3 23
  4. International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PMID: 16382100) Clapham D.E. … Schultz G. (Pharmacol. Rev. 2005) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MCOLN3 Gene

Sources for MCOLN3 Gene

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