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UniProtKB - Q8TDD5 (MCLN3_HUMAN)

Entry version 147 (12 Aug 2020)
Sequence version 1 (01 Jun 2002)
Previous versions | rss
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Protein

Mucolipin-3

Gene

MCOLN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Nonselective ligand-gated cation channel probably playing a role in the regulation of membrane trafficking events. Acts as Ca2+-permeable cation channel with inwardly rectifying activity (PubMed:18369318, PubMed:19497048, PubMed:19522758, PubMed:19885840, PubMed:29106414). Mediates release of Ca2+ from endosomes to the cytoplasm, contributes to endosomal acidification and is involved in the regulation of membrane trafficking and fusion in the endosomal pathway (PubMed:21245134). Does not seem to act as mechanosensory transduction channel in inner ear sensory hair cells. Proposed to play a critical role at the cochlear stereocilia ankle-link region during hair-bundle growth (By similarity). Involved in the regulation of autophagy (PubMed:19522758). Through association with GABARAPL2 may be involved in autophagosome formation possibly providing Ca2+ for the fusion process (By similarity). Through a possible and probably tissue-specific heteromerization with MCOLN1 may be at least in part involved in many lysosome-dependent cellular events (PubMed:19885840). Possible heteromeric ion channel assemblies with TRPV5 show pharmacological similarity with TRPML3 (PubMed:23469151).By similarityCurated8 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by lumenal H+ and Na+ (PubMed:18369318, PubMed:29106414). The channel pore shows dynamic behavior and undergoes spontaneous, Ca2+-dependent modulation when conducting Ca2+ (PubMed:20378547).3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel
Biological processIon transport, Transport
LigandLipid-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8TDD5

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-3295583, TRP channels

Protein family/group databases

Transport Classification Database

More...TCDBi		1.A.5.3.4, the polycystin cation channel (pcc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mucolipin-31 Publication
Alternative name(s):
Transient receptor potential channel mucolipin 3
Short name:
TRPML31 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MCOLN3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000055732.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:13358, MCOLN3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607400, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TDD5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 62Cytoplasmic1 PublicationAdd BLAST62
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei63 – 83Helical1 PublicationAdd BLAST21
Topological domaini84 – 283Extracellular1 PublicationAdd BLAST200
Transmembranei284 – 304Helical1 PublicationAdd BLAST21
Topological domaini305 – 341Cytoplasmic1 PublicationAdd BLAST37
Transmembranei342 – 362Helical1 PublicationAdd BLAST21
Topological domaini363 – 371Extracellular1 Publication9
Transmembranei372 – 392Helical1 PublicationAdd BLAST21
Topological domaini393 – 414Cytoplasmic1 PublicationAdd BLAST22
Transmembranei415 – 435Helical1 PublicationAdd BLAST21
Topological domaini436 – 443Extracellular1 Publication8
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei444 – 464Pore-forming1 PublicationAdd BLAST21
Topological domaini465 – 475Extracellular1 PublicationAdd BLAST11
Transmembranei476 – 497Helical1 PublicationAdd BLAST22
Topological domaini498 – 553Cytoplasmic1 PublicationAdd BLAST56

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, Endosome, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi108D → N: Abolishes basal channel activity without affecting channel activation by a synthetic agonist; when associated with N-111 and N-112. 1 Publication1
Mutagenesisi111D → N: Abolishes basal channel activity without affecting channel activation by a synthetic agonist; when associated with N-108 and N-112. 1 Publication1
Mutagenesisi112D → N: Abolishes basal channel activity without affecting channel activation by a synthetic agonist; when associated with N-108 and N-111. 1 Publication1
Mutagenesisi252H → A: Increases inhibition by lumenal H(+). Decreases inhibition by lumenal H(+); when associated with A-283. 1 Publication1
Mutagenesisi273H → A: Increases inhibition by lumenal H(+). Decreases inhibition by lumenal H(+); when associated with A-283. 1 Publication1
Mutagenesisi283H → A: Constitutive active channel; abolishes inhibition by lumenal H(+); retains the Ca(2+)-dependent inactivation of the Ca(2+) current. Decreases inhibition by lumenal H(+); when associated with A-252. Decreases inhibition by lumenal H(+); when associated with A-273. 1 Publication1
Mutagenesisi283H → R: Increases inhibition by lumenal H(+). 1 Publication1
Mutagenesisi419A → P: Constitutive active channel; abolishes inhibition by lumenal H(+); increases the pore diameter. 2 Publications1
Mutagenesisi423Y → A: Nearly abolishes channel activation by a synthetic agonist. 1 Publication1
Mutagenesisi449E → A: Constitutive active channel; greatly impairs inhibition by lumenal Na(+). 1 Publication1
Mutagenesisi449E → K: Abolishes channel activity. 1 Publication1
Mutagenesisi458 – 459DD → KK: Enhances endocytosis. 1 Publication2
Mutagenesisi458D → K: Nearly abolishes channel activity; inhibits starvation-induced autophagy. 1 Publication1
Mutagenesisi459D → A: Decreases in Ca(2+) permeability and selectivity; decreases channel pore dynamic behavior. 1 Publication1
Mutagenesisi497F → A: Nearly abolishes channel activation by a synthetic agonist. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		55283

Open Targets

More...OpenTargetsi		ENSG00000055732

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134947324

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8TDD5, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1293243

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		503

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MCOLN3

Domain mapping of disease mutations (DMDM)

More...DMDMi		50401084

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002153671 – 553Mucolipin-3Add BLAST553

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi138N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi159 ↔ 185By similarity
Glycosylationi172N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi205N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi238 ↔ 269By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8TDD5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8TDD5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TDD5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8TDD5

PeptideAtlas

More...PeptideAtlasi		Q8TDD5

PRoteomics IDEntifications database

More...PRIDEi		Q8TDD5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74270 [Q8TDD5-1]
74271 [Q8TDD5-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1522, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q8TDD5, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TDD5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8TDD5

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q8TDD5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000055732, Expressed in left adrenal gland and 175 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TDD5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TDD5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000055732, Tissue enhanced (adrenal gland, pituitary gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotetramer (PubMed:29106414). Can heterooligomerize with MCOLN1; heteromeric assemblies have different channel properties as compared to the respective homooligomers and may be tissue-specific (PubMed:19885840). May heterooligomerize with TRPV5 to form a functional distinct ion channel (PubMed:23469151).

Interacts with GABARAPL2 (By similarity).

By similarity1 Publication2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei305Interaction with phosphoinositidesBy similarity1

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120571, 62 interactors

Protein interaction database and analysis system

More...IntActi		Q8TDD5, 40 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359621

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q8TDD5

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8TDD5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8TDD5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni52 – 62Interaction with phosphoinositidesBy similarityAdd BLAST11
Regioni104 – 118Extracellular/lumenal pore loopBy similarityAdd BLAST15

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi456 – 459Selectivity filter1 Publication4

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca2+ and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen.By similarity

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN3 sub-subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3733, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183036

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_020945_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TDD5

KEGG Orthology (KO)

More...KOi		K04994

Identification of Orthologs from Complete Genome Data

More...OMAi		RYMVVDQ

Database of Orthologous Groups

More...OrthoDBi		1379516at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TDD5

TreeFam database of animal gene trees

More...TreeFami		TF317783

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039031, Mucolipin
IPR013122, PKD1_2_channel

The PANTHER Classification System

More...PANTHERi		PTHR12127, PTHR12127, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08016, PKD_channel, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8TDD5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC 
        60         70         80         90        100
EKFWARGRKP WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH 
       110        120        130        140        150
LFLKGYMDRM DDTYAVYTQS DVYDQLIFAV NQYLQLYNVS VGNHAYENKG 
       160        170        180        190        200
TKQSAMAICQ HFYKRGNIYP GNDTFDIDPE IETECFFVEP DEPFHIGTPA 
       210        220        230        240        250
ENKLNLTLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD FTLTITFDNK 
       260        270        280        290        300
AHSGRIKISL DNDISIRECK DWHVSGSIQK NTHYMMIFDA FVILTCLVSL 
       310        320        330        340        350
ILCIRSVIRG LQLQQEFVNF FLLHYKKEVS VSDQMEFVNG WYIMIIISDI 
       360        370        380        390        400
LTIIGSILKM EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL 
       410        420        430        440        450
LILTLQAALP NVIRFCCCAA MIYLGYCFCG WIVLGPYHDK FRSLNMVSEC 
       460        470        480        490        500
LFSLINGDDM FATFAKMQQK SYLVWLFSRI YLYSFISLFI YMILSLFIAL 
       510        520        530        540        550
ITDTYETIKQ YQQDGFPETE LRTFISECKD LPNSGKYRLE DDPPVSLFCC 

CKK
Length:553
Mass (Da):64,248
Last modified:June 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2E63DA196379F9E3
GO
Isoform 2 (identifier: Q8TDD5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-132: Missing.

Show »
Length:497
Mass (Da):57,723
Checksum:iB014DF953C034761
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1ANB7B1ANB7_HUMAN
Mucolipin 3, isoform CRA_d
MCOLN3 hCG_1775160
321Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R386S4R386_HUMAN
Mucolipin-3
MCOLN3
141Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti9S → C in BAA91951 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_01082377 – 132Missing in isoform 2. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF475085 mRNA Translation: AAL84622.1
AK001868 mRNA Translation: BAA91951.1
AL358789 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS58009.1 [Q8TDD5-2]
CCDS701.1 [Q8TDD5-1]

NCBI Reference Sequences

More...RefSeqi		NP_001240622.1, NM_001253693.1 [Q8TDD5-2]
NP_060768.8, NM_018298.10 [Q8TDD5-1]
XP_005271060.1, XM_005271003.1 [Q8TDD5-1]
XP_006710813.1, XM_006710750.1 [Q8TDD5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000341115; ENSP00000342698; ENSG00000055732 [Q8TDD5-2]
ENST00000370589; ENSP00000359621; ENSG00000055732 [Q8TDD5-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55283

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55283

UCSC genome browser

More...UCSCi		uc001dkp.4, human [Q8TDD5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF475085 mRNA Translation: AAL84622.1
AK001868 mRNA Translation: BAA91951.1
AL358789 Genomic DNA No translation available.
CCDSiCCDS58009.1 [Q8TDD5-2]
CCDS701.1 [Q8TDD5-1]
RefSeqiNP_001240622.1, NM_001253693.1 [Q8TDD5-2]
NP_060768.8, NM_018298.10 [Q8TDD5-1]
XP_005271060.1, XM_005271003.1 [Q8TDD5-1]
XP_006710813.1, XM_006710750.1 [Q8TDD5-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6AYEelectron microscopy4.06A/B/C/D1-553[»]
6AYFelectron microscopy3.62A/B/C/D1-553[»]
6AYGelectron microscopy4.65A/B/C/D1-553[»]
SMRiQ8TDD5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120571, 62 interactors
IntActiQ8TDD5, 40 interactors
STRINGi9606.ENSP00000359621

Chemistry databases

BindingDBiQ8TDD5
ChEMBLiCHEMBL1293243
GuidetoPHARMACOLOGYi503

Protein family/group databases

TCDBi1.A.5.3.4, the polycystin cation channel (pcc) family

PTM databases

GlyConnecti1522, 2 N-Linked glycans (1 site)
GlyGeniQ8TDD5, 4 sites
iPTMnetiQ8TDD5
PhosphoSitePlusiQ8TDD5
SwissPalmiQ8TDD5

Polymorphism and mutation databases

BioMutaiMCOLN3
DMDMi50401084

Proteomic databases

jPOSTiQ8TDD5
MassIVEiQ8TDD5
MaxQBiQ8TDD5
PaxDbiQ8TDD5
PeptideAtlasiQ8TDD5
PRIDEiQ8TDD5
ProteomicsDBi74270 [Q8TDD5-1]
74271 [Q8TDD5-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q8TDD5, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		19787, 136 antibodies

Genome annotation databases

EnsembliENST00000341115; ENSP00000342698; ENSG00000055732 [Q8TDD5-2]
ENST00000370589; ENSP00000359621; ENSG00000055732 [Q8TDD5-1]
GeneIDi55283
KEGGihsa:55283
UCSCiuc001dkp.4, human [Q8TDD5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55283
DisGeNETi55283
EuPathDBiHostDB:ENSG00000055732.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		MCOLN3
HGNCiHGNC:13358, MCOLN3
HPAiENSG00000055732, Tissue enhanced (adrenal gland, pituitary gland)
MIMi607400, gene
neXtProtiNX_Q8TDD5
OpenTargetsiENSG00000055732
PharmGKBiPA134947324

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3733, Eukaryota
GeneTreeiENSGT00950000183036
HOGENOMiCLU_020945_1_1_1
InParanoidiQ8TDD5
KOiK04994
OMAiRYMVVDQ
OrthoDBi1379516at2759
PhylomeDBiQ8TDD5
TreeFamiTF317783

Enzyme and pathway databases

PathwayCommonsiQ8TDD5
ReactomeiR-HSA-3295583, TRP channels

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55283, 6 hits in 871 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MCOLN3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MCOLN3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55283
PharosiQ8TDD5, Tchem

Protein Ontology

More...PROi		PR:Q8TDD5
RNActiQ8TDD5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000055732, Expressed in left adrenal gland and 175 other tissues
ExpressionAtlasiQ8TDD5, baseline and differential
GenevisibleiQ8TDD5, HS

Family and domain databases

InterProiView protein in InterPro
IPR039031, Mucolipin
IPR013122, PKD1_2_channel
PANTHERiPTHR12127, PTHR12127, 1 hit
PfamiView protein in Pfam
PF08016, PKD_channel, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMCLN3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TDD5
Secondary accession number(s): Q5T4H5, Q5T4H6, Q9NV09
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: June 1, 2002
Last modified: August 12, 2020
This is version 147 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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