Seroatlas · Human Serome Atlas

TMEM165

Putative divalent cation/proton antiporter TMEM165

Also known as: GDT1, SLC64A1, TM165_HUMAN, TMPT27, TPARL

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9HC07
Gene
TMEM165
Ensembl
ENSG00000134851
Chromosome
4
Canonical length
324 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

324 residues, UniProt reviewed canonical sequence.

>Q9HC07|TMEM165
     1  MAAAAPGNGR ASAPRLLLLF LVPLLWAPAA VRAGPDEDLS HRNKEPPAPA QQLQPQPVAV
    61  QGPEPARVEK IFTPAAPVHT NKEDPATQTN LGFIHAFVAA ISVIIVSELG DKTFFIAAIM
   121  AMRYNRLTVL AGAMLALGLM TCLSVLFGYA TTVIPRVYTY YVSTVLFAIF GIRMLREGLK
   181  MSPDEGQEEL EEVQAELKKK DEEFQRTKLL NGPGDVETGT SITVPQKKWL HFISPIFVQA
   241  LTLTFLAEWG DRSQLTTIVL AAREDPYGVA VGGTVGHCLC TGLAVIGGRM IAQKISVRTV
   301  TIIGGIVFLA FAFSALFISP DSGF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM165 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.41
Highest tissue expression
85 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 85 nTPM
  • urinary bladder: 74 nTPM
  • adrenal gland: 58 nTPM
  • placenta: 57 nTPM
  • midbrain: 56 nTPM
  • esophagus: 53 nTPM

Single-cell type

  • oligodendrocytes: 1,125 nCPM
  • neutrophils: 921 nCPM
  • urothelial cells: 546 nCPM
  • endometrial glandular cells: 540 nCPM
  • prostatic club cells: 504 nCPM
  • suprabasal keratinocytes: 473 nCPM

Immune cell

  • classical monocyte: 40 nTPM
  • myeloid DC: 37 nTPM
  • non-classical monocyte: 36 nTPM
  • intermediate monocyte: 36 nTPM
  • total PBMC: 30 nTPM
  • neutrophil: 29 nTPM

Brain region

  • white matter: 210 nTPM
  • medulla oblongata: 152 nTPM
  • pons: 137 nTPM
  • basal ganglia: 129 nTPM
  • midbrain: 124 nTPM
  • thalamus: 110 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM165.

Disease | AllUniProt

Conditions TMEM165 is implicated in, by any mechanism.

  • Congenital disorder of glycosylation 2K (CDG2K) MIM:614727

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 210 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • TMEM165-congenital disorder of glycosylation

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.63
gnomAD pLI
0.28
gnomAD missense Z
1.37
DepMap mean gene effect
-0.21
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • GDT1-like
  • GDT1-like, conserved site
  • Divalent cation/proton antiporter GDT1

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM165 as an antibody target. Whether an autoantibody or antibody against TMEM165 could matter depends on whether native TMEM165 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM165 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TMEM165 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM165. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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