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    TMEM165 transmembrane protein 165 [ Homo sapiens (human) ]

    Gene ID: 55858, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM165provided by HGNC
    Official Full Name
    transmembrane protein 165provided by HGNC
    Primary source
    HGNC:HGNC:30760
    See related
    Ensembl:ENSG00000134851 MIM:614726; AllianceGenome:HGNC:30760
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FT27; GDT1; CDG2K; TPARL; TMPT27; SLC64A1
    Summary
    This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this gene's expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 19.0), gall bladder (RPKM 17.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM165 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (55395957..55453397)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (58884101..58941541)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56262124..56292342)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene steroid 5 alpha-reductase 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56230743-56231431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:56231432-56232119 Neighboring gene FCF1 pseudogene 8 Neighboring gene SRD5A3 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2928 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21574 Neighboring gene clock circadian regulator Neighboring gene Sharpr-MPRA regulatory region 15506 Neighboring gene Sharpr-MPRA regulatory region 12160 Neighboring gene uncharacterized LOC124900704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15442 Neighboring gene RN7SK pseudogene 30

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells. Stribny J, et al. J Biol Chem, 2020 Mar 20. PMID 32047108, Free PMC Article
    2. Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells. Vicogne D, et al. J Inherit Metab Dis, 2020 Mar. PMID 31415112, Free PMC Article
    3. Dissection of TMEM165 function in Golgi glycosylation and its Mn(2+) sensitivity. Lebredonchel E, et al. Biochimie, 2019 Oct. PMID 31351090, Free PMC Article
    4. TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis. Dulary E, et al. Tissue Cell, 2017 Apr. PMID 27401145
    5. Manganese-induced turnover of TMEM165. Potelle S, et al. Biochem J, 2017 Apr 19. PMID 28270545, Free PMC Article

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Insights into the regulation of cellular Mn[2+] homeostasis via TMEM165.
      Title: Insights into the regulation of cellular Mn(2+) homeostasis via TMEM165.
    2. Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
      Title: Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
    3. Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.
      Title: Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.
    4. The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells.
      Title: The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells.
    5. TMEM165 was constitutively degraded in lysosomes in the absence of SPCA1.
      Title: Investigating the functional link between TMEM165 and SPCA1.
    6. The results show the crucial importance of two conserved motifs of TMEM165 (E-x-G-D-K-[TF] and E-x-G-D-R-[SQ]) and underline the contribution of some specific amino acids in both Golgi glycosylation and Mn(2+) sensitivity.
      Title: Dissection of TMEM165 function in Golgi glycosylation and its Mn(2+) sensitivity.
    7. High TMEM165 expression is associated with hepatocellular carcinoma.
      Title: TMEM165, a Golgi transmembrane protein, is a novel marker for hepatocellular carcinoma and its depletion impairs invasion activity.
    8. The finding of numerous splice variants could lead to a family of TMEM165 isoforms.
      Title: Evidence for splice transcript variants of TMEM165, a gene involved in CDG.
    9. Data indicate the Golgi protein transmembrane protein 165 (TMEM165) as a manganese-sensitive protein in mammalian cells.
      Title: Manganese-induced turnover of TMEM165.
    10. This manuscript is a review of the current state of knowledge on TMEM165 deficiencies in Congenital Disorders of Glycosylation as well as new data on function of TMEM165 and some speculative models on TMEM165/Golgi functions are discussed.
      Title: TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables antiporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables manganese ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi calcium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in intracellular calcium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in manganese ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in manganese ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of lysosomal lumen pH IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cis-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    putative divalent cation/proton antiporter TMEM165
    Names
    TPA regulated locus
    transmembrane protein PT27
    transmembrane protein TPARL

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_032881.2 RefSeqGene

      Range
      5002..35220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018475.5 → NP_060945.2  putative divalent cation/proton antiporter TMEM165 precursor

      See identical proteins and their annotated locations for NP_060945.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AF183409, BC107582, HY089602
      Consensus CDS
      CCDS3499.1
      UniProtKB/Swiss-Prot
      A8K3P8, B4DHW1, Q9BTN9, Q9HC07, Q9NZ34
      Related
      ENSP00000370736.5, ENST00000381334.10
      Conserved Domains (1) summary
      COG2119
      Location:96 → 317
      Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]

    RNA

    1. NR_073070.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF183409, AK295289, BC107582, HY089602
      Related
      ENST00000508404.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      55395957..55453397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534394.4 → XP_011532696.1  putative divalent cation/proton antiporter TMEM165 isoform X1

      Conserved Domains (2) summary
      COG2119
      Location:96 → 299
      Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]
      pfam01169
      Location:103 → 171
      UPF0016; Uncharacterized protein family UPF0016

    2. XM_017008412.2 → XP_016863901.1  putative divalent cation/proton antiporter TMEM165 isoform X2

      UniProtKB/Swiss-Prot
      Q9HC07
      Conserved Domains (2) summary
      COG2119
      Location:33 → 254
      Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]
      pfam01169
      Location:180 → 249
      UPF0016; Uncharacterized protein family UPF0016

    3. XM_047415962.1 → XP_047271918.1  putative divalent cation/proton antiporter TMEM165 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      58884101..58941541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350501.1 → XP_054206476.1  putative divalent cation/proton antiporter TMEM165 isoform X1

    2. XM_054350503.1 → XP_054206478.1  putative divalent cation/proton antiporter TMEM165 isoform X2

    3. XM_054350502.1 → XP_054206477.1  putative divalent cation/proton antiporter TMEM165 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HC07.1 GenPept UniProtKB/Swiss-Prot:Q9HC07

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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