OXR1
entrez
55074
canonical
uniprot
Q8N573
canonical
ensembl
ENSG00000164830
resolver
ensp
ENSP00000297447
resolver
ensp
ENSP00000311026
resolver
ensp
ENSP00000405424
resolver
ensp
ENSP00000408659
resolver
ensp
ENSP00000429205
resolver
ensp
ENSP00000430701
resolver
ensp
ENSP00000431966
resolver
genesymbol
OXR1
resolver
hgnc
HGNC:15822
resolver
uniprot
A6NK11
resolver
uniprot
A8KA34
resolver
uniprot
B3KXL1
resolver
uniprot
B7Z402
resolver
uniprot
B7Z8N5
resolver
uniprot
D3HIS6
resolver
uniprot
Q3LIB5
resolver
uniprot
Q6ZVK9
resolver
uniprot
Q8N8V0
resolver
uniprot
Q9H266
resolver
uniprot
Q9NWC7
resolver
uniprot_entry
OXR1_HUMAN
resolver
uniprot_sec
A6NK11
resolver
uniprot_sec
A8KA34
resolver
uniprot_sec
B3KXL1
resolver
uniprot_sec
B7Z402
resolver
uniprot_sec
B7Z8N5
resolver
uniprot_sec
D3HIS6
resolver
uniprot_sec
Q3LIB5
resolver
uniprot_sec
Q6ZVK9
resolver
uniprot_sec
Q8N8V0
resolver
uniprot_sec
Q9H266
resolver
uniprot_sec
Q9NWC7
resolver
amino_acid_sequence
MTKDKNSPGLKKKSQSVDINAPGFNPLAGAGKQTPQASKPPAPKTPIIEEEQNNAANTQKHPSRRSELKRFYTIDTGQKKTLDKKDGRRMSFQKPKGTIEYTVESRDSLNSIALKFDTTPNELVQLNKLFSRAVVTGQVLYVPDPEYVSSVESSPSLSPVSPLSPTSSEAEFDKTTNPDVHPTEATPSSTFTGIRPARVVSSTSEEEEAFTEKFLKINCKYITSGKGTVSGVLLVTPNNIMFDPHKNDPLVQENGCEEYGIMCPMEEVMSAAMYKEILDSKIKESLPIDIDQLSGRDFCHSKKMTGSNTEEIDSRIRDAGNDSASTAPRSTEESLSEDVFTESELSPIREELVSSDELRQDKSSGASSESVQTVNQAEVESLTVKSESTGTPGHLRSDTEHSTNEVGTLCHKTDLNNLEMAIKEDQIADNFQGISGPKEDSTSIKGNSDQDSFLHENSLHQEESQKENMPCGETAEFKQKQSVNKGKQGKEQNQDSQTEAEELRKLWKTHTMQQTKQQRENIQQVSQKEAKHKITSADGHIESSALLKEKQRHRLHKFLCLRVGKPMRKTFVSQASATMQQYAQRDKKHEYWFAVPQERTDHLYAFFIQWSPEIYAEDTGEYTREPGFIVVKKIEESETIEDSSNQAAAREWEVVSVAEYHRRIDALNTEELRTLCRRLQITTREDINSKQVATVKADLESESFRPNLSDPSELLLPDQIEKLTKHLPPRTIGYPWTLVYGTGKHGTSLKTLYRTMTGLDTPVLMVIKDSDGQVFGALASEPLKVSDGFYGTGETFVFTFCPEFEVFKWTGDNMFFIKGDMDSLAFGGGGGEFALWLDGDLYHGRSHSCKTFGNRTLSKKEDFFIQDIEIWAFE
uniprot
proteins
disease_involvement
DISEASE: Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay (CHEGDD) [MIM:213000]: An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy. {ECO:0000269|PubMed:31785787}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Inhibits the activity of the vacuolar-type ATPase (V-ATPase) by inducing disassembly of the V-ATPase complex (PubMed:38593795). Protects the Golgi apparatus lumen from excess acidification by inhibiting V-ATPase ATP hydrolytic activity through interaction with V-ATPase catalytic subunit ATP6V1A, maintaining optimal conditions for glycosylation enzymes (By similarity). Involved in protection from oxidative damage (PubMed:11114193, PubMed:15060142). Protects neuronal cells from oxidative stress (By similarity). {ECO:0000250|UniProtKB:Q4KMM3, ECO:0000269|PubMed:11114193, ECO:0000269|PubMed:15060142, ECO:0000269|PubMed:38593795}.
uniprot
proteins
mass_dalton
97970
uniprot
proteins
post_translational_modification
PTM: Undergoes oxidation following oxidative stress induced by hydrogen peroxide. {ECO:0000250|UniProtKB:Q4KMM3}.
uniprot
proteins
protein_family
OXR1 family
uniprot
proteins
pubmed
11114193
uniprot
proteins
pubmed
12880961
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15060142
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22873401
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
31785787
uniprot
proteins
pubmed
36130215
uniprot
proteins
pubmed
38593795
uniprot
proteins
sequence_length
874
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15060142}. Nucleus, nucleolus {ECO:0000250|UniProtKB:Q4KMM3}. Golgi apparatus, cis-Golgi network membrane {ECO:0000250|UniProtKB:Q4KMM3}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q4KMM3}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:Q4KMM3}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q4KMM3}. Note=Detected in mitochondria in neuronal cells. Has also been detected in the nucleolus in fibroblasts and myoblasts. Recruited to the cis-Golgi network and trans-Golgi network membranes in a Rab-dependent manner. {ECO:0000250|UniProtKB:Q4KMM3}.
uniprot
proteins