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Aliases for TMEM175 Gene

Aliases for TMEM175 Gene

  • Transmembrane Protein 175 2 3 4 5
  • HTMEM175 3 4
  • Endosomal/Lysomomal Potassium Channel TMEM175 3
  • Endosomal/Lysosomal Potassium Channel TMEM175 3

External Ids for TMEM175 Gene

Summaries for TMEM175 Gene

GeneCards Summary for TMEM175 Gene

TMEM175 (Transmembrane Protein 175) is a Protein Coding gene.

UniProtKB/Swiss-Prot for TMEM175 Gene

  • Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel.

Additional gene information for TMEM175 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM175 Gene

Genomics for TMEM175 Gene

GeneHancer (GH) Regulatory Elements for TMEM175 Gene

Promoters and enhancers for TMEM175 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I000929 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -0.8 -758 3.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 POLR2B E2F8 ZNF207 ZNF143 SP3 GAK TMEM175 DGKQ CRIPAK PCGF3 MAEA PIGG ENSG00000281016 ENSG00000254094 ENSG00000273179
GH04I000934 Enhancer 0.2 Ensembl 550.8 +1.9 1914 0.6 TMEM175 GAK DGKQ GC04M000939 GC04M000940
GH04I000991 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 6.8 +60.7 60676 2.7 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 POLR2B SP5 SLC26A1 GC04P000992 DGKQ TMEM175 ENSG00000251639 RNF212 ENSG00000250321 IDUA
GH04I000905 Enhancer 0.5 FANTOM5 12.1 -26.8 -26778 0.3 SMARCC1 ZBTB6 ZNF600 ZBTB33 KLF8 GAK TMEM175 DGKQ FGFRL1 PCGF3 GC04M000897 PIR46095
GH04I000995 Enhancer 1.1 FANTOM5 Ensembl 4.7 +64.6 64563 3.4 HDGF ATF7 GTF2B ZNF592 MBD2 GMEB1 SMARCA4 MYNN GLIS1 CTCF PIGG GAK PCGF3 CRIPAK MAEA SLC26A1 DGKQ ENSG00000250321 CPLX1 TMEM175
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM175 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM175 gene promoter:

Genomic Locations for TMEM175 Gene

Genomic Locations for TMEM175 Gene
chr4:932,387-958,656
(GRCh38/hg38)
Size:
26,270 bases
Orientation:
Plus strand
chr4:926,175-952,444
(GRCh37/hg19)

Genomic View for TMEM175 Gene

Genes around TMEM175 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM175 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM175 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM175 Gene

Proteins for TMEM175 Gene

  • Protein details for TMEM175 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSA9-TM175_HUMAN
    Recommended name:
    Endosomal/lysosomal potassium channel TMEM175
    Protein Accession:
    Q9BSA9
    Secondary Accessions:
    • D3DVN4
    • Q8ND13

    Protein attributes for TMEM175 Gene

    Size:
    504 amino acids
    Molecular mass:
    55615 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for TMEM175 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM175 Gene

Post-translational modifications for TMEM175 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TMEM175 Gene

Domains & Families for TMEM175 Gene

Gene Families for TMEM175 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM175 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM175 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BSA9

UniProtKB/Swiss-Prot:

TM175_HUMAN :
  • Composed of two modules of six transmembranes, forming a homodimer with a tetrameric architecture (PubMed:28723891). The six transmembrane regions of each module are tightly packed within each subunit without undergoing domain swapping (By similarity). Transmembranes TM1-TM3 of each module are positioned on the inner circle of the channel tetramer and participate in inter-subunit interactions that are central to the assembly of the ion conduction pore (By similarity). The RxxxFSD motifs within transmembranes TM1 coordinate a network of specific inter- and intra-subunit interactions with other conserved residues on TM2 and TM3 and play a key role in the tetrameric assembly of the channel (By similarity). Transmembranes TM4-TM6 are positioned on the periphery of the channel and do not contribute contacts with neighboring subunits (By similarity). Transmembranes TM1 and TM2 are linked by an extended strand-like tail and two short helices (H1 and H2) which protrude outwards from the main body of the transmembrane domain and enclose the external open entrance of the ion conduction pore in the channel tetramer (By similarity). Transmembranes TM1 form the pore-lining inner helix at the center of the channel, creating an hourglass-shaped ion permeation pathway in the channel tetramer (By similarity). Three hydrophobic residues on the C-terminal half of the TM1 helices form a bottleneck along the ion conduction pathway and serve as the selectivity filter of the channel (By similarity). Ile-46 (and Ile-271) are probably responsible for channel selectivity (PubMed:28723891).
  • Belongs to the TMEM175 family.
Domain:
  • Composed of two modules of six transmembranes, forming a homodimer with a tetrameric architecture (PubMed:28723891). The six transmembrane regions of each module are tightly packed within each subunit without undergoing domain swapping (By similarity). Transmembranes TM1-TM3 of each module are positioned on the inner circle of the channel tetramer and participate in inter-subunit interactions that are central to the assembly of the ion conduction pore (By similarity). The RxxxFSD motifs within transmembranes TM1 coordinate a network of specific inter- and intra-subunit interactions with other conserved residues on TM2 and TM3 and play a key role in the tetrameric assembly of the channel (By similarity). Transmembranes TM4-TM6 are positioned on the periphery of the channel and do not contribute contacts with neighboring subunits (By similarity). Transmembranes TM1 and TM2 are linked by an extended strand-like tail and two short helices (H1 and H2) which protrude outwards from the main body of the transmembrane domain and enclose the external open entrance of the ion conduction pore in the channel tetramer (By similarity). Transmembranes TM1 form the pore-lining inner helix at the center of the channel, creating an hourglass-shaped ion permeation pathway in the channel tetramer (By similarity). Three hydrophobic residues on the C-terminal half of the TM1 helices form a bottleneck along the ion conduction pathway and serve as the selectivity filter of the channel (By similarity). Ile-46 (and Ile-271) are probably responsible for channel selectivity (PubMed:28723891).
Family:
  • Belongs to the TMEM175 family.
genes like me logo Genes that share domains with TMEM175: view

Function for TMEM175 Gene

Molecular function for TMEM175 Gene

UniProtKB/Swiss-Prot Function:
Organelle-specific potassium channel specifically responsible for potassium conductance in endosomes and lysosomes. Forms a potassium-permeable leak-like channel, which regulates lumenal pH stability and is required for autophagosome-lysosome fusion. Constitutes the major lysosomal potassium channel.

Phenotypes From GWAS Catalog for TMEM175 Gene

Gene Ontology (GO) - Molecular Function for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005267 potassium channel activity IDA 28723891
GO:0022841 potassium ion leak channel activity IDA 26317472
genes like me logo Genes that share ontologies with TMEM175: view
genes like me logo Genes that share phenotypes with TMEM175: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM175 Gene

Localization for TMEM175 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM175 Gene

Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM175 gene
Compartment Confidence
lysosome 5
endosome 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 26317472
GO:0005765 lysosomal membrane IEA,HDA 17897319
GO:0005768 endosome IEA,IDA 26317472
GO:0010008 endosome membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMEM175: view

Pathways & Interactions for TMEM175 Gene

SuperPathways for TMEM175 Gene

No Data Available

Interacting Proteins for TMEM175 Gene

Selected Interacting proteins: Q9BSA9-TM175_HUMAN for TMEM175 Gene via IID

Symbol External ID(s) Details
APP

Gene Ontology (GO) - Biological Process for TMEM175 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0035751 regulation of lysosomal lumen pH IEA --
GO:0071805 potassium ion transmembrane transport IEA,IDA 26317472
genes like me logo Genes that share ontologies with TMEM175: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM175 Gene

Drugs & Compounds for TMEM175 Gene

No Compound Related Data Available

Transcripts for TMEM175 Gene

Unigene Clusters for TMEM175 Gene

Transmembrane protein 175:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM175 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - - -
SP8:
SP9: - - - - -
SP10: - - - - - - -
SP11: - - - -
SP12: - - - - - - -
SP13: -
SP14: -
SP15: - - - - -
SP16:
SP17: -

Relevant External Links for TMEM175 Gene

GeneLoc Exon Structure for
TMEM175
ECgene alternative splicing isoforms for
TMEM175

Expression for TMEM175 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM175 Gene

Protein differential expression in normal tissues from HIPED for TMEM175 Gene

This gene is overexpressed in Adrenal (30.8), Blymphocyte (11.7), and Peripheral blood mononuclear cells (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM175 Gene



Protein tissue co-expression partners for TMEM175 Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM175 Gene:

TMEM175

SOURCE GeneReport for Unigene cluster for TMEM175 Gene:

Hs.478936

mRNA Expression by UniProt/SwissProt for TMEM175 Gene:

Q9BSA9-TM175_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for TMEM175 Gene

  • Nervous system(4.7)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with TMEM175: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM175 Gene

Orthologs for TMEM175 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM175 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM175 33
  • 98.2 (n)
dog
(Canis familiaris)
Mammalia TMEM175 33 34
  • 83.73 (n)
cow
(Bos Taurus)
Mammalia TMEM175 33 34
  • 82.53 (n)
rat
(Rattus norvegicus)
Mammalia Tmem175 33
  • 80.29 (n)
mouse
(Mus musculus)
Mammalia Tmem175 33 16 34
  • 80.09 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM175 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM175 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM175 33 34
  • 62.96 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM175 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem175 33 34
  • 63.41 (n)
Species where no ortholog for TMEM175 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM175 Gene

ENSEMBL:
Gene Tree for TMEM175 (if available)
TreeFam:
Gene Tree for TMEM175 (if available)

Paralogs for TMEM175 Gene

(1) SIMAP similar genes for TMEM175 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with TMEM175: view

No data available for Paralogs for TMEM175 Gene

Variants for TMEM175 Gene

Sequence variations from dbSNP and Humsavar for TMEM175 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000020000 -- 949,751(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000128699 -- 954,283(+) A/G intron_variant
rs1000154536 -- 942,005(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000189512 -- 953,941(+) C/T intron_variant
rs1000191417 -- 958,273(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM175 Gene

Variant ID Type Subtype PubMed ID
dgv5079n100 CNV gain 25217958
esv2726739 CNV deletion 23290073
esv2759217 CNV loss 17122850
esv29984 CNV loss 17803354
esv3563227 CNV deletion 23714750
nsv1003219 CNV gain 25217958
nsv1008352 CNV gain 25217958
nsv469998 CNV loss 18288195
nsv593226 CNV loss 21841781
nsv822425 CNV loss 20364138
nsv950327 CNV deletion 24416366

Variation tolerance for TMEM175 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.43; 71.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM175 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM175

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM175 Gene

Disorders for TMEM175 Gene

UniProtKB/Swiss-Prot

TM175_HUMAN
  • Parkinson disease (PARK) [MIM:168600]: A 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. {ECO:0000269 PubMed:28193887}. Note=Disease susceptibility may be associated with variations 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). {ECO:0000269 PubMed:28193887}.

Additional Disease Information for TMEM175

No disorders were found for TMEM175 Gene.

No data available for MalaCards and Genatlas for TMEM175 Gene

Publications for TMEM175 Gene

  1. TMEM175 Is an Organelle K(+) Channel Regulating Lysosomal Function. (PMID: 26317472) Cang C … Ren D (Cell 2015) 2 3 4 58
  2. The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture. (PMID: 28723891) Lee C … Jiang Y (Nature 2017) 3 4 58
  3. TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation. (PMID: 28193887) Jinn S … Stone DJ (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4 58
  4. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 44 58
  5. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do CB … Eriksson N (PLoS genetics 2011) 3 44 58

Products for TMEM175 Gene

Sources for TMEM175 Gene

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