Property Summary

NCBI Gene PubMed Count 11
Grant Count 1
Funding $196,636
PubMed Score 34.88
PubTator Score 14.83

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q9HC07 A8K3P8 B4DHW1 Q9BTN9 Q9NZ34
Symbols FT27
GDT1
CDG2K
TPARL
TMPT27

Gene

 Grant Application (1)

Gene RIF (4)

PMID Text
24720419 Antisense oligonucleotide-mediated pseudoexon skipping used in a Golgi-resident protein, a promising treatment option for a specific TMEM165-congenital disorders of glycosylation.
23575229 Congenital Disorders of Glycosylation disease-causing mutations of TMEM165 changes subcellular localization of the protein.
23569283 Defects in TMEM165 affect both Ca2+ and pH homeostasis.
22683087 we identified TMEM165 (also named TPARL) as a gene involved in congenital disorders of glycosylation (CDG).

AA Sequence

MAAAAPGNGRASAPRLLLLFLVPLLWAPAAVRAGPDEDLSHRNKEPPAPAQQLQPQPVAVQGPEPARVEK      1 - 70
IFTPAAPVHTNKEDPATQTNLGFIHAFVAAISVIIVSELGDKTFFIAAIMAMRYNRLTVLAGAMLALGLM     71 - 140
TCLSVLFGYATTVIPRVYTYYVSTVLFAIFGIRMLREGLKMSPDEGQEELEEVQAELKKKDEEFQRTKLL    141 - 210
NGPGDVETGTSITVPQKKWLHFISPIFVQALTLTFLAEWGDRSQLTTIVLAAREDPYGVAVGGTVGHCLC    211 - 280
TGLAVIGGRMIAQKISVRTVTIIGGIVFLAFAFSALFISPDSGF                              281 - 324
//

Text Mined References (14)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24720419 2015 Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.
23575229 2013 Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
23569283 2013 Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.
23430531 2013 Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
22683087 2012 TMEM165 deficiency causes a congenital disorder of glycosylation.
21269460 2011 Initial characterization of the human central proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
More...