TMEM165

GENE INFORMATION

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Gene name

TMEM165 (HGNC Symbol)

Synonyms

GDT1, TMPT27, TPARL

Description

Transmembrane protein 165 (HGNC Symbol)

Entrez gene 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]

Chromosome

4

Cytoband

q12

Chromosome location (bp)

55395957 - 55453397

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134851 (version 78.38)

Entrez gene

55858

UniProt

Q9HC07 (UniProt - Evidence at protein level)

neXtProt

NX_Q9HC07

Antibodypedia

TMEM165 antibodies
 

PROTEIN VIEW

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TMEM165-001
 
TMEM165-006
 
TMEM165-013
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TMEM165-001 ENSP00000370736
ENST00000381334
Q9HC07
Show all »
Show » Show » 324 34.9 Yes 6
TMEM165-006 ENSP00000425449
ENST00000506198
D6RD79
Show all »
Show » Show » 129 13.3 Yes 2
TMEM165-013 ENSP00000476531
ENST00000608091
Show » Show » 158 17.2 No 2