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MCOLN3 mucolipin 3 [ Homo sapiens (human) ]

Gene ID: 55283, updated on 12-Aug-2018

Summary

Official Symbol
MCOLN3provided by HGNC
Official Full Name
mucolipin 3provided by HGNC
Primary source
HGNC:HGNC:13358
See related
Ensembl:ENSG00000055732 MIM:607400; Vega:OTTHUMG00000009955
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
TRPML3; TRP-ML3
Summary
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]
Expression
Biased expression in adrenal (RPKM 27.0), skin (RPKM 3.3) and 5 other tissues See more
Orthologs

Genomic context

See MCOLN3 in Genome Data Viewer
Location:
1p22.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (85018082..85048902, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85483765..85514585, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lysophosphatidic acid receptor 3 Neighboring gene mucolipin 2 Neighboring gene WD repeat domain 63 Neighboring gene protein GVQW1-like Neighboring gene microRNA 4423

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • TRP channels, organism-specific biosystem (from REACTOME)
    TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11006, FLJ36629, MGC71509

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAADP-sensitive calcium-release channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium channel activity TAS
Traceable Author Statement
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
autophagosome membrane IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
mucolipin-3
Names
transient receptor potential channel mucolipin 3

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001253693.1NP_001240622.1  mucolipin-3 isoform 2

    See identical proteins and their annotated locations for NP_001240622.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AK001868, BP358726, BQ006750, BU634119, BX483450, CB159774, W03483
    Consensus CDS
    CCDS58009.1
    UniProtKB/Swiss-Prot
    Q8TDD5
    Related
    ENSP00000342698.3, OTTHUMP00000011617, ENST00000341115.8, OTTHUMT00000027570
    Conserved Domains (1) summary
    pfam08016
    Location:319452
    PKD_channel; Polycystin cation channel
  2. NM_018298.10NP_060768.8  mucolipin-3 isoform 1

    See identical proteins and their annotated locations for NP_060768.8

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AF475085, BP358726, BQ006750, BU634119, BX647497, CB159774, W03483
    Consensus CDS
    CCDS701.1
    UniProtKB/Swiss-Prot
    Q8TDD5
    Related
    ENSP00000359621.1, OTTHUMP00000011616, ENST00000370589.6, OTTHUMT00000027569
    Conserved Domains (1) summary
    pfam08016
    Location:375508
    PKD_channel; Polycystin cation channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    85018082..85048902 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271003.1XP_005271060.1  mucolipin-3 isoform X2

    See identical proteins and their annotated locations for XP_005271060.1

    UniProtKB/Swiss-Prot
    Q8TDD5
    Conserved Domains (1) summary
    pfam08016
    Location:375508
    PKD_channel; Polycystin cation channel
  2. XM_011541742.1XP_011540044.1  mucolipin-3 isoform X5

    Conserved Domains (1) summary
    pfam08016
    Location:220353
    PKD_channel; Polycystin cation channel
  3. XM_006710750.1XP_006710813.1  mucolipin-3 isoform X2

    See identical proteins and their annotated locations for XP_006710813.1

    UniProtKB/Swiss-Prot
    Q8TDD5
    Conserved Domains (1) summary
    pfam08016
    Location:375508
    PKD_channel; Polycystin cation channel
  4. XM_011541740.2XP_011540042.1  mucolipin-3 isoform X3

    Conserved Domains (1) summary
    pfam08016
    Location:343476
    PKD_channel; Polycystin cation channel
  5. XM_011541739.2XP_011540041.2  mucolipin-3 isoform X1

  6. XM_011541741.2XP_011540043.1  mucolipin-3 isoform X4

RNA

  1. XR_946699.2 RNA Sequence

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