TMEM165 transmembrane protein 165 [Homo sapiens (human)] - Gene

Summary

Go to the top of the page Help

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
NEW: Try the new Gene table
Try the new Transcript table

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (55395957..55453397)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (58884101..58941541)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (56262124..56292342)

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Insights into the regulation of cellular Mn[2+] homeostasis via TMEM165.
Title: Insights into the regulation of cellular Mn(2+) homeostasis via TMEM165.
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Title: Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
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.
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.
TMEM165 was constitutively degraded in lysosomes in the absence of SPCA1.
Title: Investigating the functional link between TMEM165 and SPCA1.
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.
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.
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.
Data indicate the Golgi protein transmembrane protein 165 (TMEM165) as a manganese-sensitive protein in mammalian cells.
Title: Manganese-induced turnover of TMEM165.
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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital disorder of glycosylation MedGen: C0282577 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs
TMEM165-congenital disorder of glycosylation MedGen: C3553571 OMIM: 614727 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH98838 (e-PCR)
- UniSTS:86375

G16820 (e-PCR)
- UniSTS:43636

STS-N32858 (e-PCR)
- UniSTS:70058

NoName (e-PCR)
- UniSTS:488117

SHGC-50745 (e-PCR)
- UniSTS:51443

STS-N25870 (e-PCR)
- UniSTS:52987

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

Go to the top of the page Help

Preferred Names: putative divalent cation/proton antiporter TMEM165; transmembrane protein 165

Names: TPA regulated locus; transmembrane protein PT27; transmembrane protein TPARL

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_032881.2 RefSeqGene

Range

5002..35220

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

55395957..55453397

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534394.4 → XP_011532696.1 transmembrane protein 165 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
XM_017008412.2 → XP_016863901.1 transmembrane protein 165 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
XM_047415962.1 → XP_047271918.1 transmembrane protein 165 isoform X3