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TMEM165 transmembrane protein 165 [ Homo sapiens (human) ]

Gene ID: 55858, updated on 7-Oct-2018

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; Vega:OTTHUMG00000128735
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
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

Genomic context

See TMEM165 in Genome Data Viewer
Location:
4q12
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (55395653..55453397)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (56262080..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 uncharacterized LOC105377659 Neighboring gene clock circadian regulator Neighboring gene RNA, 7SK small nuclear pseudogene 30 Neighboring gene phosducin like 2

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Golgi calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
protein N-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lysosomal lumen pH IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    5001..35263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018475.4NP_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, OTTHUMP00000158929, ENST00000381334.9, OTTHUMT00000250646
    Conserved Domains (1) summary
    COG2119
    Location:96317
    Gdt1; Putative Ca2+/H+ antiporter, TMEM165/GDT1 family [General function prediction only]

RNA

  1. NR_073070.1 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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 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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