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Aliases for TMEM165 Gene

Aliases for TMEM165 Gene

  • Transmembrane Protein 165 2 3
  • Transmembrane Protein TPARL 3 4
  • Transmembrane Protein PT27 3 4
  • TPA Regulated Locus 2 3
  • CDG2K 3 6
  • TPARL 3 4
  • FT27 3 6
  • TMPT27 3
  • GDT1 3

External Ids for TMEM165 Gene

Summaries for TMEM165 Gene

Entrez Gene Summary for TMEM165 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]

GeneCards Summary for TMEM165 Gene

TMEM165 (Transmembrane Protein 165) is a Protein Coding gene. Diseases associated with TMEM165 include congenital disorder of glycosylation, type iik and camurati-engelmann disease.

UniProtKB/Swiss-Prot for TMEM165 Gene

  • May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM165 Gene

Genomics for TMEM165 Gene

Genomic Location for TMEM165 Gene

Start:
55,395,913 bp from pter
End:
55,453,397 bp from pter
Size:
57,485 bases
Orientation:
Plus strand

Genomic View for TMEM165 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM165 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM165 Gene

Regulatory Elements for TMEM165 Gene

Proteins for TMEM165 Gene

  • Protein details for TMEM165 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC07-TM165_HUMAN
    Recommended name:
    Transmembrane protein 165
    Protein Accession:
    Q9HC07
    Secondary Accessions:
    • A8K3P8
    • B4DHW1
    • Q9BTN9
    • Q9NZ34

    Protein attributes for TMEM165 Gene

    Size:
    324 amino acids
    Molecular mass:
    34906 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF67653.1; Type=Frameshift; Positions=2, 7; Evidence={ECO:0000305};

    Alternative splice isoforms for TMEM165 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM165 Gene

Proteomics data for TMEM165 Gene at MOPED

Post-translational modifications for TMEM165 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys208
  • Glycosylation at Thr73 and Thr80

Other Protein References for TMEM165 Gene

No data available for DME Specific Peptides for TMEM165 Gene

Domains for TMEM165 Gene

Protein Domains for TMEM165 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

TM165_HUMAN
Family:
  • Belongs to the GDT1 family.:
    • Q9HC07
genes like me logo Genes that share domains with TMEM165: view

No data available for Gene Families for TMEM165 Gene

Function for TMEM165 Gene

Molecular function for TMEM165 Gene

UniProtKB/Swiss-Prot Function: May function as a calcium/proton transporter involved in calcium and in lysosomal pH homeostasis. Therefore, it may play an indirect role in protein glycosylation.

Phenotypes for TMEM165 Gene

genes like me logo Genes that share phenotypes with TMEM165: view

miRNA for TMEM165 Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for TMEM165 Gene

Localization for TMEM165 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM165 Gene

Golgi apparatus membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane. Lysosome membrane. Early endosome membrane. Late endosome membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMEM165 Gene COMPARTMENTS Subcellular localization image for TMEM165 gene
Compartment Confidence
golgi apparatus 3
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TMEM165 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 23575229
GO:0005794 Golgi apparatus IDA --
GO:0010008 endosome membrane IDA 23575229
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM165: view

Pathways for TMEM165 Gene

SuperPathways for TMEM165 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM165 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006487 protein N-linked glycosylation IMP 22683087
GO:0006874 cellular calcium ion homeostasis IGI 23569283
GO:0032472 Golgi calcium ion transport IDA 23569283
GO:0035751 regulation of lysosomal lumen pH IMP 23569283
genes like me logo Genes that share ontologies with TMEM165: view

No data available for Pathways by source for TMEM165 Gene

Transcripts for TMEM165 Gene

Unigene Clusters for TMEM165 Gene

Transmembrane protein 165:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM165 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c · 11d
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:
SP6: - - - - - - - - - - - - - - - -
SP7: - - - - -
SP8:
SP9: - -
SP10:

Relevant External Links for TMEM165 Gene

GeneLoc Exon Structure for
TMEM165
ECgene alternative splicing isoforms for
TMEM165

Expression for TMEM165 Gene

mRNA expression in normal human tissues for TMEM165 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM165 Gene

SOURCE GeneReport for Unigene cluster for TMEM165 Gene Hs.479766

mRNA Expression by UniProt/SwissProt for TMEM165 Gene

Q9HC07-TM165_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expressions with TMEM165: view

Orthologs for TMEM165 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TMEM165 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM165 36
  • 100 (n)
  • 100 (a)
TMEM165 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TMEM165 36
  • 92.53 (n)
  • 96.99 (a)
TMEM165 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM165 36
  • 89.67 (n)
  • 94.61 (a)
TMEM165 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem165 36
  • 86.79 (n)
  • 91.95 (a)
Tmem165 16
Tmem165 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM165 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM165 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem165 36
  • 86.58 (n)
  • 92.26 (a)
chicken
(Gallus gallus)
Aves TMEM165 36
  • 80.49 (n)
  • 91.47 (a)
TMEM165 37
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMEM165 37
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem165 36
  • 76.88 (n)
  • 89.11 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.2671 36
tmem165 36
  • 68.27 (n)
  • 79.7 (a)
tmem165 37
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011962 36
  • 57.96 (n)
  • 64.41 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42542 36
  • 59.41 (n)
  • 60.67 (a)
CG42542 37
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54F10AL.1 36
  • 58.27 (n)
  • 56.2 (a)
Y54F10AL.1 37
  • 48 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL257W 36
  • 50.96 (n)
  • 43.27 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GDT1 36
  • 50.83 (n)
  • 40 (a)
GDT1 37
  • 34 (a)
OneToOne
GDT1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23761g 36
  • 50.21 (n)
  • 42.26 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G36290 36
  • 49.48 (n)
  • 40.31 (a)
rice
(Oryza sativa)
Liliopsida Os.9476 36
Os11g0472500 36
  • 53.17 (n)
  • 49.05 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01990 36
  • 50.61 (n)
  • 45.87 (a)
Species with no ortholog for TMEM165:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM165 Gene

ENSEMBL:
Gene Tree for TMEM165 (if available)
TreeFam:
Gene Tree for TMEM165 (if available)

Paralogs for TMEM165 Gene

No data available for Paralogs for TMEM165 Gene

Variants for TMEM165 Gene

Sequence variations from dbSNP and Humsavar for TMEM165 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs6802 -- 55,425,934(-) TCTTT(A/T)TTTAA utr-variant-3-prime, nc-transcript-variant
rs13890 -- 55,425,843(-) ATTCT(C/T)TCCCC utr-variant-3-prime, nc-transcript-variant
rs471546 -- 55,420,446(-) TGATT(A/T)TACAG intron-variant
rs473005 -- 55,421,958(-) AGAGT(G/T)GGATT intron-variant
rs480479 -- 55,408,163(-) GTATC(A/G)GGGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM165 Gene

Variant ID Type Subtype PubMed ID
esv2660719 CNV Deletion 23128226
esv23054 CNV Loss 19812545
esv2667161 CNV Deletion 23128226

Relevant External Links for TMEM165 Gene

HapMap Linkage Disequilibrium report
TMEM165
Human Gene Mutation Database (HGMD)
TMEM165

Disorders for TMEM165 Gene

(1) OMIM Diseases for TMEM165 Gene (614726)

UniProtKB/Swiss-Prot

TM165_HUMAN
  • Congenital disorder of glycosylation 2K (CDG2K) [MIM:614727]: An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:22683087, ECO:0000269 PubMed:23430531}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TMEM165 Gene

genes like me logo Genes that share disorders with TMEM165: view

Publications for TMEM165 Gene

  1. TMEM165 deficiency causes a congenital disorder of glycosylation. (PMID: 22683087) Foulquier F. … Matthijs G. (Am. J. Hum. Genet. 2012) 2 3 4
  2. Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. (PMID: 23575229) Rosnoblet C. … Foulquier F. (Hum. Mol. Genet. 2013) 2 3 4
  3. Messenger RNA expressed in mouse teratocarcinoma stem cells and down-regulated by a tumor-promoting phorbol ester codes for a novel transmembrane protein. (PMID: 3202867) Akagi J. … Akagi M. (Biochem. Biophys. Res. Commun. 1988) 2 3
  4. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PMID: 10931946) Hu R.-M. … Chen J.-L. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for TMEM165 Gene

Sources for TMEM165 Gene

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