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Entry version 130 (23 Feb 2022)
Sequence version 1 (01 Jun 2001)
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Protein

Endosomal/lysosomal potassium channel TMEM175

Gene

TMEM175

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

Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes (PubMed:26317472, PubMed:28723891, PubMed:32267231, PubMed:33505021, PubMed:32228865).

Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion (PubMed:26317472, PubMed:28723891, PubMed:32267231, PubMed:33505021, PubMed:32228865).

Constitutes the major lysosomal potassium channel (PubMed:26317472, PubMed:28723891).

Constitutes the pore-forming subunit of the lysoK(GF) complex, a complex activated by extracellular growth factors (PubMed:33505021).

The lysoK(GF) complex is composed of TMEM175 and AKT (AKT1, AKT2 or AKT3), a major target of growth factor receptors: in the complex, TMEM175 channel is opened by conformational changes by AKT, leading to its activation (PubMed:33505021).

The lysoK(GF) complex is required to protect neurons against stress-induced damage (PubMed:33505021).

5 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

Channel activity is activated following interaction with AKT (AKT1, AKT2 or AKT3): interaction promotes activation from closed to an open state (PubMed:33505021). Activation by AKT is independent of AKT serine/threonine-protein kinase activity (PubMed:33505021).1 Publication

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>Sitei46Hydrophobic filter residue 1-11 Publication1
Sitei50Hydrophobic filter residue 2-1By similarity1
Sitei53Hydrophobic filter residue 3-1By similarity1
Sitei271Hydrophobic filter residue 1-21 Publication1
Sitei275Hydrophobic filter residue 2-2By similarity1
Sitei278Hydrophobic filter residue 3-2By similarity1

<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

GO - Biological processi

<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, Potassium channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q9BSA9

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q9BSA9

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.78.1.1, the k+-selective channel in endosomes and lysosomes (kel) 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:
Endosomal/lysosomal potassium channel TMEM175Curated
Alternative name(s):
Transmembrane protein 1751 Publication
Short name:
hTMEM1753 Publications
<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:TMEM1751 PublicationImported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28709, TMEM175

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616660, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9BSA9

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000127419

<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

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 – 33Cytoplasmic1 PublicationAdd BLAST33
<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>Transmembranei34 – 56Helical; Name=TM1-1Combined sources1 PublicationAdd BLAST23
Topological domaini57 – 77LumenalCuratedAdd BLAST21
Transmembranei78 – 100Helical; Name=TM2-1Combined sources1 PublicationAdd BLAST23
Topological domaini101 – 106CytoplasmicCurated6
Transmembranei107 – 128Helical; Name=TM3-1Combined sources1 PublicationAdd BLAST22
Topological domaini129 – 138LumenalCurated10
Transmembranei139 – 160Helical; Name=TM4-1Combined sources1 PublicationAdd BLAST22
Topological domaini161 – 184CytoplasmicCuratedAdd BLAST24
Transmembranei185 – 205Helical; Name=TM5-1Sequence analysisAdd BLAST21
Topological domaini206 – 210LumenalCurated5
Transmembranei211 – 230Helical; Name=TM6-1Sequence analysisAdd BLAST20
Topological domaini231 – 257CytoplasmicCuratedAdd BLAST27
Transmembranei258 – 282Helical; Name=TM1-2Combined sources1 PublicationAdd BLAST25
Topological domaini283 – 309LumenalCuratedAdd BLAST27
Transmembranei310 – 332Helical; Name=TM2-2Combined sources1 PublicationAdd BLAST23
Topological domaini333 – 338CytoplasmicCurated6
Transmembranei339 – 360Helical; Name=TM3-2Combined sources1 PublicationAdd BLAST22
Topological domaini361 – 375LumenalCuratedAdd BLAST15
Transmembranei376 – 396Helical; Name=TM4-2Combined sources1 PublicationAdd BLAST21
Topological domaini397 – 416CytoplasmicCuratedAdd BLAST20
Transmembranei417 – 440Helical; Name=TM5-2Combined sources1 PublicationAdd BLAST24
Topological domaini441 – 442LumenalCurated2
Transmembranei443 – 469Helical; Name=TM6-2Combined sources1 PublicationAdd BLAST27
Topological domaini470 – 504Cytoplasmic1 PublicationAdd BLAST35

Keywords - Cellular componenti

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Parkinson disease (PARK)4 Publications
Disease susceptibility may be associated with variants affecting the gene represented in this entry. TMEM175 defects result in unstable lysosomal pH, leading to decreased lysosomal catalytic activity, decreased glucocerebrosidase activity, impaired autophagosome clearance by the lysosome and decreased mitochondrial respiration (PubMed:28193887).1 Publication
Disease descriptionA complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features.
Related information in OMIM

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>Mutagenesisi35R → A: Impaired potassium channel activity. Curated1
Mutagenesisi39F → V: Impaired potassium channel activity. Curated1
Mutagenesisi40S → A: Impaired potassium channel activity. Curated1
Mutagenesisi41D → A, E or N: Impaired potassium channel activity. Curated1
Mutagenesisi45 – 49SIIAT → AIIAA: Decreased selectivity for potassium ion; when associated with A-274. 1 Publication5
Mutagenesisi45S → T: Decreased selectivity for potassium ion. 1 Publication1
Mutagenesisi46I → N: Impaired selectivity; can conduct both K(+) and Na(+); when associated with N-271. 1 Publication1
Mutagenesisi49T → A: Decreased selectivity for potassium ion. 1 Publication1
Mutagenesisi50V → A: Does not affect selectivity; when associated with A-275. 1 Publication1
Mutagenesisi53L → A: Does not affect selectivity; when associated with A-278. 1 Publication1
Mutagenesisi241S → A: Reduced channel activation, probably caused by decreased interaction with AKT1; when associated with A-338. 1 Publication1
Mutagenesisi271I → N: Impaired selectivity; can conduct both K(+) and Na(+); when associated with N-46. 1 Publication1
Mutagenesisi274T → A: Decreased selectivity for potassium ion. Decreased selectivity for potassium ion; when associated with 45-A--A-49. 1 Publication1
Mutagenesisi274T → V: Decreased selectivity for potassium ion. 1 Publication1
Mutagenesisi275L → A: Does not affect selectivity; when associated with A-50. 1 Publication1
Mutagenesisi278L → A: Does not affect selectivity; when associated with A-53. 1 Publication1
Mutagenesisi338T → A: Reduced channel activation, probably caused by decreased interaction with AKT1; when associated with A-241. 1 Publication1
Mutagenesisi393M → I: Does not affect potassium channel activity. 1 Publication1
Mutagenesisi393M → W: Reduced potassium channel activity. 1 Publication1

Keywords - Diseasei

Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNET

More...
DisGeNETi
84286
MIMi168600, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000127419

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162405946

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9BSA9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TMEM175

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74732981

<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_00002825881 – 504Endosomal/lysosomal potassium channel TMEM175Add BLAST504

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei6PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9BSA9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9BSA9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9BSA9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9BSA9

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

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PaxDbi
Q9BSA9

PeptideAtlas

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PeptideAtlasi
Q9BSA9

PRoteomics IDEntifications database

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PRIDEi
Q9BSA9

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78871 [Q9BSA9-1]
78872 [Q9BSA9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9BSA9

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

More...
PhosphoSitePlusi
Q9BSA9

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000127419, Expressed in right hemisphere of cerebellum and 188 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9BSA9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9BSA9, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000127419, Low tissue specificity

<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

Homodimer (Probable) (PubMed:32228865).

Interacts with AKT (AKT1, AKT2 or AKT3); leading to formation of the lysoK(GF) complex, which activates the channel (PubMed:33505021).

1 Publication2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124013, 8 interactors

Protein interaction database and analysis system

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IntActi
Q9BSA9, 5 interactors

Molecular INTeraction database

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MINTi
Q9BSA9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264771

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9BSA9, 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

Secondary structure

1504
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q9BSA9

Database of comparative protein structure models

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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>Regioni1 – 27DisorderedSequence analysisAdd BLAST27
Regioni58 – 63Short helix H1-1By similarity6
Regioni65 – 71Short helix H2-1By similarity7
Regioni288 – 296Short helix H1-2By similarity9
Regioni298 – 304Short helix H2-2By similarity7
Regioni483 – 504DisorderedSequence analysisAdd BLAST22

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>Motifi35 – 41RxxxFSD motif 11 Publication7
Motifi260 – 266RxxxFSD motif 21 Publication7

<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

Composed of two modules of six transmembranes, forming a homodimer with a tetrameric architecture (PubMed:28723891, PubMed:32228865). The six transmembrane regions of each module are tightly packed within each subunit without undergoing domain swapping (PubMed:32228865). Forms a central ion-conduction pore lined by the side chains of the pore-lining helices (PubMed:32228865). Conserved isoleucine residues (Ile-46 in the first module and Ile-271 in the second module) in the center of the pore serve as the gate in the closed conformation (PubMed:32228865). In the widened channel in the open conformation, Ser-45 and Ile-46 in the first module (and Thr-274 and Ile-271 in the second module), establish a constriction essential for potassium selectivity (PubMed:32228865).2 Publications

<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 TMEM175 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QR5C, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000015667

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9BSA9

Identification of Orthologs from Complete Genome Data

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OMAi
FFFPVSY

Database of Orthologous Groups

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OrthoDBi
894975at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9BSA9

TreeFam database of animal gene trees

More...
TreeFami
TF328838

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR010617, TMEM175

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06736, TMEM175, 2 hits

<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.<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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BSA9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MSQPRTPEQA LDTPGDCPPG RRDEDAGEGI QCSQRMLSFS DALLSIIATV
60 70 80 90 100
MILPVTHTEI SPEQQFDRSV QRLLATRIAV YLMTFLIVTV AWAAHTRLFQ
110 120 130 140 150
VVGKTDDTLA LLNLACMMTI TFLPYTFSLM VTFPDVPLGI FLFCVCVIAI
160 170 180 190 200
GVVQALIVGY AFHFPHLLSP QIQRSAHRAL YRRHVLGIVL QGPALCFAAA
210 220 230 240 250
IFSLFFVPLS YLLMVTVILL PYVSKVTGWC RDRLLGHREP SAHPVEVFSF
260 270 280 290 300
DLHEPLSKER VEAFSDGVYA IVATLLILDI CEDNVPDPKD VKERFSGSLV
310 320 330 340 350
AALSATGPRF LAYFGSFATV GLLWFAHHSL FLHVRKATRA MGLLNTLSLA
360 370 380 390 400
FVGGLPLAYQ QTSAFARQPR DELERVRVSC TIIFLASIFQ LAMWTTALLH
410 420 430 440 450
QAETLQPSVW FGGREHVLMF AKLALYPCAS LLAFASTCLL SRFSVGIFHL
460 470 480 490 500
MQIAVPCAFL LLRLLVGLAL ATLRVLRGLA RPEHPPPAPT GQDDPQSQLL

PAPC
Length:504
Mass (Da):55,615
Last modified:June 1, 2001 - 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:i7FEE4C22CA248094
GO
Isoform 2 (identifier: Q9BSA9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.

Show »
Length:388
Mass (Da):42,847
Checksum:i179ED37576BCB367
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6UWG6F6UWG6_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175 MGC4618, hCG_34455
422Annotation score:

Annotation score:2 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>
D6RIZ2D6RIZ2_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
133Annotation score:

Annotation score:2 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>
D6RDY8D6RDY8_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
179Annotation score:

Annotation score:2 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>
D6RAU7D6RAU7_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
113Annotation score:

Annotation score:2 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>
D6RBE5D6RBE5_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
284Annotation score:

Annotation score:2 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>
E7ETE6E7ETE6_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
212Annotation score:

Annotation score:2 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>
D6RAJ5D6RAJ5_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
162Annotation score:

Annotation score:2 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>
D6RHV8D6RHV8_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
77Annotation 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>
D6RCD9D6RCD9_HUMAN
Endosomal/lysosomal potassium chann...
TMEM175
72Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05387365Q → P Associated with decreased risk for Parkinson disease; gain-of-function variant; does not affect lysosomal localization. 2 PublicationsCorresponds to variant dbSNP:rs34884217Ensembl.1
Natural variantiVAR_053874393M → T Associated with increased risk for Parkinson disease; reduced potassium channel activity; does not affect lysosomal localization. 3 PublicationsCorresponds to variant dbSNP:rs34311866Ensembl.1

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_0242131 – 116Missing in isoform 2. 1 PublicationAdd BLAST116

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
AL834199 mRNA Translation: CAD38888.1
CH471131 Genomic DNA Translation: EAW82633.1
CH471131 Genomic DNA Translation: EAW82638.1
BC005158 mRNA Translation: AAH05158.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3341.1 [Q9BSA9-1]
CCDS75088.1 [Q9BSA9-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001284355.1, NM_001297426.1 [Q9BSA9-2]
NP_001284356.1, NM_001297427.1 [Q9BSA9-2]
NP_001284357.1, NM_001297428.1 [Q9BSA9-2]
NP_115702.1, NM_032326.3 [Q9BSA9-1]
XP_005272361.1, XM_005272304.1 [Q9BSA9-2]
XP_016864190.1, XM_017008701.1 [Q9BSA9-1]
XP_016864194.1, XM_017008705.1 [Q9BSA9-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264771; ENSP00000264771; ENSG00000127419
ENST00000515740; ENSP00000427039; ENSG00000127419 [Q9BSA9-2]
ENST00000622959; ENSP00000485461; ENSG00000127419 [Q9BSA9-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84286

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84286

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...
MANE-Selecti
ENST00000264771.9; ENSP00000264771.4; NM_032326.4; NP_115702.1

UCSC genome browser

More...
UCSCi
uc003gbq.4, human [Q9BSA9-1]

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
AL834199 mRNA Translation: CAD38888.1
CH471131 Genomic DNA Translation: EAW82633.1
CH471131 Genomic DNA Translation: EAW82638.1
BC005158 mRNA Translation: AAH05158.1
CCDSiCCDS3341.1 [Q9BSA9-1]
CCDS75088.1 [Q9BSA9-2]
RefSeqiNP_001284355.1, NM_001297426.1 [Q9BSA9-2]
NP_001284356.1, NM_001297427.1 [Q9BSA9-2]
NP_001284357.1, NM_001297428.1 [Q9BSA9-2]
NP_115702.1, NM_032326.3 [Q9BSA9-1]
XP_005272361.1, XM_005272304.1 [Q9BSA9-2]
XP_016864190.1, XM_017008701.1 [Q9BSA9-1]
XP_016864194.1, XM_017008705.1 [Q9BSA9-2]

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
6W8Nelectron microscopy3.20A/B1-504[»]
6W8Oelectron microscopy3.40A/B1-504[»]
6W8Pelectron microscopy3.60A/B1-504[»]
6WC9electron microscopy2.64A/B1-504[»]
6WCAelectron microscopy3.03A/B1-504[»]
6WCBelectron microscopy3.17A/B1-504[»]
6WCCelectron microscopy3.24A/B1-504[»]
SMRiQ9BSA9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi124013, 8 interactors
IntActiQ9BSA9, 5 interactors
MINTiQ9BSA9
STRINGi9606.ENSP00000264771

Protein family/group databases

TCDBi1.A.78.1.1, the k+-selective channel in endosomes and lysosomes (kel) family

PTM databases

iPTMnetiQ9BSA9
PhosphoSitePlusiQ9BSA9

Genetic variation databases

BioMutaiTMEM175
DMDMi74732981

Proteomic databases

EPDiQ9BSA9
jPOSTiQ9BSA9
MassIVEiQ9BSA9
MaxQBiQ9BSA9
PaxDbiQ9BSA9
PeptideAtlasiQ9BSA9
PRIDEiQ9BSA9
ProteomicsDBi78871 [Q9BSA9-1]
78872 [Q9BSA9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
8167, 62 antibodies from 21 providers

The DNASU plasmid repository

More...
DNASUi
84286

Genome annotation databases

EnsembliENST00000264771; ENSP00000264771; ENSG00000127419
ENST00000515740; ENSP00000427039; ENSG00000127419 [Q9BSA9-2]
ENST00000622959; ENSP00000485461; ENSG00000127419 [Q9BSA9-2]
GeneIDi84286
KEGGihsa:84286
MANE-SelectiENST00000264771.9; ENSP00000264771.4; NM_032326.4; NP_115702.1
UCSCiuc003gbq.4, human [Q9BSA9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84286
DisGeNETi84286

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TMEM175
HGNCiHGNC:28709, TMEM175
HPAiENSG00000127419, Low tissue specificity
MIMi168600, phenotype
616660, gene
neXtProtiNX_Q9BSA9
OpenTargetsiENSG00000127419
PharmGKBiPA162405946
VEuPathDBiHostDB:ENSG00000127419

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QR5C, Eukaryota
GeneTreeiENSGT00390000015667
InParanoidiQ9BSA9
OMAiFFFPVSY
OrthoDBi894975at2759
PhylomeDBiQ9BSA9
TreeFamiTF328838

Enzyme and pathway databases

PathwayCommonsiQ9BSA9
SignaLinkiQ9BSA9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
84286, 7 hits in 1043 CRISPR screens

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

More...
ChiTaRSi
TMEM175, human

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

More...
GenomeRNAii
84286
PharosiQ9BSA9, Tbio

Protein Ontology

More...
PROi
PR:Q9BSA9
RNActiQ9BSA9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127419, Expressed in right hemisphere of cerebellum and 188 other tissues
ExpressionAtlasiQ9BSA9, baseline and differential
GenevisibleiQ9BSA9, HS

Family and domain databases

InterProiView protein in InterPro
IPR010617, TMEM175
PfamiView protein in Pfam
PF06736, TMEM175, 2 hits

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 nameiTM175_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: Q9BSA9
Secondary accession number(s): D3DVN4, Q8ND13
<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: April 3, 2007
Last sequence update: June 1, 2001
Last modified: February 23, 2022
This is version 130 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. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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