TMEM163
entrez
81615
canonical
uniprot
Q8TC26
canonical
ensembl
ENSG00000152128
resolver
ensp
ENSP00000281924
resolver
genesymbol
TMEM163
resolver
hgnc
HGNC:25380
resolver
uniprot
Q53QM3
resolver
uniprot
Q53SV7
resolver
uniprot
Q69YH3
resolver
uniprot
Q9UFG3
resolver
uniprot_entry
TM163_HUMAN
resolver
uniprot_sec
Q53QM3
resolver
uniprot_sec
Q53SV7
resolver
uniprot_sec
Q69YH3
resolver
uniprot_sec
Q9UFG3
resolver
amino_acid_sequence
MEPAAGIQRRSSQGPTVPPPPRGHAPPAAAPGPAPLSSPVREPPQLEEERQVRISESGQFSDGLEDRGLLESSTRLKPHEAQNYRKKALWVSWFSIIVTLALAVAAFTVSVMRYSASAFGFAFDAILDVLSSAIVLWRYSNAAAVHSAHREYIACVILGVIFLLSSICIVVKAIHDLSTRLLPEVDDFLFSVSILSGILCSILAVLKFMLGKVLTSRALITDGFNSLVGGVMGFSILLSAEVFKHDSAVWYLDGSIGVLIGLTIFAYGVKLLIDMVPRVRQTRHYEMFE
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 25 (HLD25) [MIM:620243]: A form of hypomyelinating leukodystrophy, a group of heterogeneous disorders characterized by persistent deficit of myelin observed on brain imaging. HLD25 is an autosomal dominant form with onset in early infancy and characterized by nystagmus, hypotonia, and delayed global development. Most patients show gradual clinical improvement over time with resolution of the nystagmus in early childhood. Many achieve developmental milestones and may have normal cognition, although some affected individuals may have persistent neurologic deficits. Brain imaging shows hypomyelination that may also improve with time. {ECO:0000269|PubMed:35455965, ECO:0000269|PubMed:35953447}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Zinc ion transporter that mediates zinc efflux and plays a crucial role in intracellular zinc homeostasis (PubMed:25130899, PubMed:31697912, PubMed:36204728). Binds the divalent cations Zn(2+), Ni(2+), and to a minor extent Cu(2+) (By similarity). Is a functional modulator of P2X purinoceptors, including P2RX1, P2RX3, P2RX4 and P2RX7 (PubMed:32492420). Plays a role in central nervous system development and is required for myelination, and survival and proliferation of oligodendrocytes (PubMed:35455965). {ECO:0000250|UniProtKB:A9CMA6, ECO:0000269|PubMed:25130899, ECO:0000269|PubMed:31697912, ECO:0000269|PubMed:32492420, ECO:0000269|PubMed:35455965, ECO:0000269|PubMed:36204728}.
uniprot
proteins
mass_dalton
31469
uniprot
proteins
mutagenesis
MUTAGEN 1..72; /note="Missing: Loss of interaction with MCOLN1."; /evidence="ECO:0000269|PubMed:25130899"; MUTAGEN 1..42; /note="Missing: Reduced interaction with MCOLN1."; /evidence="ECO:0000269|PubMed:25130899"; MUTAGEN 124; /note="D->A: Severely reduced zinc efflux; when associated with A-128."; /evidence="ECO:0000269|PubMed:31697912"; MUTAGEN 128; /note="D->A: Severely reduced zinc efflux; when associated with A-124."; /evidence="ECO:0000269|PubMed:31697912
uniprot
proteins
protein_family
TMEM163 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
25130899
uniprot
proteins
pubmed
31697912
uniprot
proteins
pubmed
32492420
uniprot
proteins
pubmed
35455965
uniprot
proteins
pubmed
35953447
uniprot
proteins
pubmed
36204728
uniprot
proteins
sequence_length
289
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q8C996}; Multi-pass membrane protein {ECO:0000255}. Early endosome membrane {ECO:0000250|UniProtKB:A9CMA6}; Multi-pass membrane protein {ECO:0000255}. Late endosome membrane {ECO:0000269|PubMed:25130899}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:25130899}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:25130899}; Multi-pass membrane protein {ECO:0000255}. Note=Glutamatergic synaptic vesicles. {ECO:0000250|UniProtKB:A9CMA6}.
uniprot
proteins
transmembrane_region
TRANSMEM 89..109; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 117..137; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 151..171; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 188..208; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 218..238; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 256..276; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins