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    TMEM165 transmembrane protein 165 [ Homo sapiens (human) ]

    Gene ID: 55858, updated on 5-Jul-2021

    Summary

    Official Symbol
    TMEM165provided by HGNC
    Official Full Name
    transmembrane protein 165provided by HGNC
    Primary source
    HGNC:HGNC:30760
    See related
    Ensembl:ENSG00000134851 MIM:614726
    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
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    Genomic context

    See TMEM165 in Genome Data Viewer
    Location:
    4q12
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (55395653..55453397)
    105.20201022 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 FCF1 pseudogene 8 Neighboring gene SRD5A3 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2928 Neighboring gene clock circadian regulator Neighboring gene Sharpr-MPRA regulatory region 12160 Neighboring gene RN7SK pseudogene 30

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables manganese ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metal ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in Golgi calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in Golgi calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    involved_in cellular 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
    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
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    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

    Preferred Names
    transmembrane protein 165
    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_032881.1 RefSeqGene

      Range
      5045..35263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018475.5NP_060945.2  transmembrane protein 165 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
      Q9HC07
      Related
      ENSP00000370736.5, ENST00000381334.10
      Conserved Domains (1) summary
      COG2119
      Location:96317
      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: Homo sapiens Updated Annotation Release 109.20210514

    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
      55395653..55453397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534394.3XP_011532696.1  transmembrane protein 165 isoform X1

      Conserved Domains (2) summary
      COG2119
      Location:96299
      Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]
      pfam01169
      Location:103171
      UPF0016; Uncharacterized protein family UPF0016
    2. XM_017008412.1XP_016863901.1  transmembrane protein 165 isoform X2

      UniProtKB/Swiss-Prot
      Q9HC07
      Conserved Domains (2) summary
      COG2119
      Location:33254
      Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]
      pfam01169
      Location:180249
      UPF0016; Uncharacterized protein family UPF0016

    RNA

    1. XR_001741287.2 RNA Sequence

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