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TMEM175 transmembrane protein 175 [ Homo sapiens (human) ]

Gene ID: 84286, updated on 15-Jun-2019

Summary

Official Symbol
TMEM175provided by HGNC
Official Full Name
transmembrane protein 175provided by HGNC
Primary source
HGNC:HGNC:28709
See related
Ensembl:ENSG00000127419 MIM:616660
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hTMEM175
Expression
Ubiquitous expression in spleen (RPKM 10.8), brain (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See TMEM175 in Genome Data Viewer
Location:
4p16.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (932387..958656)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (926175..952444)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374340 Neighboring gene cyclin G associated kinase Neighboring gene uncharacterized LOC105374341 Neighboring gene diacylglycerol kinase theta Neighboring gene solute carrier family 26 member 1 Neighboring gene iduronidase alpha-L-

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
NHGRI GWA Catalog
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4618

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium ion leak channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion leak channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
phagosome-lysosome fusion IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lysosomal lumen pH IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane HDA PubMed 
lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endosomal/lysosomal potassium channel TMEM175
Names
endosomal/lysomomal potassium channel TMEM175

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001297423.2NP_001284352.1  endosomal/lysosomal potassium channel TMEM175 isoform 2

    See identical proteins and their annotated locations for NP_001284352.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform.
    Source sequence(s)
    BC047738, DA168151
    Consensus CDS
    CCDS75087.1
    UniProtKB/TrEMBL
    D3DVN5
    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  2. NM_001297424.2NP_001284353.1  endosomal/lysosomal potassium channel TMEM175 isoform 2

    See identical proteins and their annotated locations for NP_001284353.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform.
    Source sequence(s)
    BC047738, BI819231
    Consensus CDS
    CCDS75087.1
    UniProtKB/TrEMBL
    D3DVN5
    Related
    ENSP00000423669.1, ENST00000508204.5
    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  3. NM_001297425.2NP_001284354.1  endosomal/lysosomal potassium channel TMEM175 isoform 2

    See identical proteins and their annotated locations for NP_001284354.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 encode the same isoform.
    Source sequence(s)
    BC047738, CB992640
    Consensus CDS
    CCDS75087.1
    UniProtKB/TrEMBL
    D3DVN5
    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  4. NM_001297426.1NP_001284355.1  endosomal/lysosomal potassium channel TMEM175 isoform 3

    See identical proteins and their annotated locations for NP_001284355.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same isoform.
    Source sequence(s)
    AL834199, BC047738, DA168151
    Consensus CDS
    CCDS75088.1
    UniProtKB/Swiss-Prot
    Q9BSA9
    Related
    ENSP00000485461.1, ENST00000622959.3
    Conserved Domains (1) summary
    pfam06736
    Location:144240
    DUF1211; Protein of unknown function (DUF1211)
  5. NM_001297427.2NP_001284356.1  endosomal/lysosomal potassium channel TMEM175 isoform 3

    See identical proteins and their annotated locations for NP_001284356.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same isoform.
    Source sequence(s)
    BC047738, BC063488, DA168151
    Consensus CDS
    CCDS75088.1
    UniProtKB/Swiss-Prot
    Q9BSA9
    Conserved Domains (1) summary
    pfam06736
    Location:144240
    DUF1211; Protein of unknown function (DUF1211)
  6. NM_001297428.2NP_001284357.1  endosomal/lysosomal potassium channel TMEM175 isoform 3

    See identical proteins and their annotated locations for NP_001284357.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same isoform.
    Source sequence(s)
    BC047738, CF242841, DA168151
    Consensus CDS
    CCDS75088.1
    UniProtKB/Swiss-Prot
    Q9BSA9
    Related
    ENSP00000427039.1, ENST00000515740.5
    Conserved Domains (1) summary
    pfam06736
    Location:144240
    DUF1211; Protein of unknown function (DUF1211)
  7. NM_032326.4NP_115702.1  endosomal/lysosomal potassium channel TMEM175 isoform 1

    See identical proteins and their annotated locations for NP_115702.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC005158, BC047738, DA168151
    Consensus CDS
    CCDS3341.1
    UniProtKB/Swiss-Prot
    Q9BSA9
    Related
    ENSP00000264771.4, ENST00000264771.9
    Conserved Domains (1) summary
    pfam06736
    Location:260356
    DUF1211; Protein of unknown function (DUF1211)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    932387..958656
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005272301.2XP_005272358.1  endosomal/lysosomal potassium channel TMEM175 isoform X2

    Conserved Domains (1) summary
    pfam06736
    Location:232328
    DUF1211; Protein of unknown function (DUF1211)
  2. XM_005272303.4XP_005272360.1  endosomal/lysosomal potassium channel TMEM175 isoform X3

    See identical proteins and their annotated locations for XP_005272360.1

    UniProtKB/TrEMBL
    D3DVN5
    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  3. XM_024454255.1XP_024310023.1  endosomal/lysosomal potassium channel TMEM175 isoform X6

    Conserved Domains (1) summary
    pfam06736
    Location:116212
    DUF1211; Protein of unknown function (DUF1211)
  4. XM_024454254.1XP_024310022.1  endosomal/lysosomal potassium channel TMEM175 isoform X5

    Conserved Domains (1) summary
    pfam06736
    Location:144240
    DUF1211; Protein of unknown function (DUF1211)
  5. XM_017008701.1XP_016864190.1  endosomal/lysosomal potassium channel TMEM175 isoform X1

    UniProtKB/Swiss-Prot
    Q9BSA9
    Conserved Domains (1) summary
    pfam06736
    Location:260356
    DUF1211; Protein of unknown function (DUF1211)
  6. XM_024454253.1XP_024310021.1  endosomal/lysosomal potassium channel TMEM175 isoform X3

    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  7. XM_017008703.1XP_016864192.1  endosomal/lysosomal potassium channel TMEM175 isoform X3

    UniProtKB/TrEMBL
    D3DVN5
    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  8. XM_005272304.1XP_005272361.1  endosomal/lysosomal potassium channel TMEM175 isoform X5

    See identical proteins and their annotated locations for XP_005272361.1

    UniProtKB/Swiss-Prot
    Q9BSA9
    Conserved Domains (1) summary
    pfam06736
    Location:144240
    DUF1211; Protein of unknown function (DUF1211)
  9. XM_024454252.1XP_024310020.1  endosomal/lysosomal potassium channel TMEM175 isoform X3

    Conserved Domains (1) summary
    pfam06736
    Location:178274
    DUF1211; Protein of unknown function (DUF1211)
  10. XM_017008704.2XP_016864193.1  endosomal/lysosomal potassium channel TMEM175 isoform X4

  11. XM_005272307.5XP_005272364.1  endosomal/lysosomal potassium channel TMEM175 isoform X7

    Conserved Domains (2) summary
    pfam06736
    Location:35124
    DUF1211; Protein of unknown function (DUF1211)
    cl01421
    Location:260280
    DUF1211; Protein of unknown function (DUF1211)
  12. XM_017008705.1XP_016864194.1  endosomal/lysosomal potassium channel TMEM175 isoform X5

    UniProtKB/Swiss-Prot
    Q9BSA9
    Conserved Domains (1) summary
    pfam06736
    Location:144240
    DUF1211; Protein of unknown function (DUF1211)
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