TMEM165
entrez
55858
canonical
uniprot
Q9HC07
canonical
ensembl
ENSG00000134851
resolver
ensp
ENSP00000370736
resolver
ensp
ENSP00000793918
resolver
genesymbol
TMEM165
resolver
genesymbol_syn
TPARL
resolver
hgnc
HGNC:30760
resolver
uniprot
A8K3P8
resolver
uniprot
B4DHW1
resolver
uniprot
Q9BTN9
resolver
uniprot
Q9NZ34
resolver
uniprot_entry
TM165_HUMAN
resolver
uniprot_sec
A8K3P8
resolver
uniprot_sec
B4DHW1
resolver
uniprot_sec
Q9BTN9
resolver
uniprot_sec
Q9NZ34
resolver
amino_acid_sequence
MAAAAPGNGRASAPRLLLLFLVPLLWAPAAVRAGPDEDLSHRNKEPPAPAQQLQPQPVAVQGPEPARVEKIFTPAAPVHTNKEDPATQTNLGFIHAFVAAISVIIVSELGDKTFFIAAIMAMRYNRLTVLAGAMLALGLMTCLSVLFGYATTVIPRVYTYYVSTVLFAIFGIRMLREGLKMSPDEGQEELEEVQAELKKKDEEFQRTKLLNGPGDVETGTSITVPQKKWLHFISPIFVQALTLTFLAEWGDRSQLTTIVLAAREDPYGVAVGGTVGHCLCTGLAVIGGRMIAQKISVRTVTIIGGIVFLAFAFSALFISPDSGF
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:23575229, ECO:0000269|PubMed:32047108}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Putative divalent cation:proton antiporter that exchanges calcium or manganese ions for protons across the Golgi membrane. Mediates the reversible transport of calcium or manganese to the Golgi lumen driven by the proton gradient and possibly the membrane potential generated by V-ATPase. Provides calcium or manganese cofactors to resident Golgi enzymes and contributes to the maintenance of an acidic luminal Golgi pH required for proper functioning of the secretory pathway (By similarity) (PubMed:22683087, PubMed:23569283, PubMed:27008884, PubMed:32047108). Promotes Ca(2+) storage within the Golgi lumen of the mammary epithelial cells to be then secreted into milk (By similarity). The transport mechanism and stoichiometry remains to be elucidated. {ECO:0000250|UniProtKB:P38301, ECO:0000250|UniProtKB:P52875, ECO:0000269|PubMed:22683087, ECO:0000269|PubMed:23569283, ECO:0000269|PubMed:27008884, ECO:0000269|PubMed:32047108}.
uniprot
proteins
mass_dalton
34906
uniprot
proteins
mutagenesis
MUTAGEN 124; /note="Y->S: Alters subcellular location."; /evidence="ECO:0000269|PubMed:23575229"; MUTAGEN 127; /note="L->G: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:23575229"; MUTAGEN 209..210; /note="LL->GG: No effect on subcellular location."; /evidence="ECO:0000269|PubMed:23575229
uniprot
proteins
protein_family
GDT1 family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22683087
uniprot
proteins
pubmed
23430531
uniprot
proteins
pubmed
23569283
uniprot
proteins
pubmed
23575229
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27008884
uniprot
proteins
pubmed
32047108
uniprot
proteins
sequence_length
324
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:P52875}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 90..110; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 127..147; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 152..172; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 229..249; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 268..288; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 300..320; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins