ROGDI
entrez
79641
canonical
uniprot
Q9GZN7
canonical
ensembl
ENSG00000067836
resolver
ensp
ENSP00000322832
resolver
ensp
ENSP00000577870
resolver
ensp
ENSP00000582130
resolver
enst
ENST00000322048
resolver
genesymbol
ROGDI
resolver
hgnc
HGNC:29478
resolver
uniprot
Q6IA00
resolver
uniprot_entry
ROGDI_HUMAN
resolver
uniprot_sec
Q6IA00
resolver
amino_acid_sequence
MATVMAATAAERAVLEEEFRWLLHDEVHAVLKQLQDILKEASLRFTLPGSGTEGPAKQENFILGSCGTDQVKGVLTLQGDALSQADVNLKMPRNNQLLHFAFREDKQWKLQQIQDARNHVSQAIYLLTSRDQSYQFKTGAEVLKLMDAVMLQLTRARNRLTTPATLTLPEIAASGLTRMFAPALPSDLLVNVYINLNKLCLTVYQLHALQPNSTKNFRPAGGAVLHSPGAMFEWGSQRLEVSHVHKVECVIPWLNDALVYFTVSLQLCQQLKDKISVFSSYWSYRPF
uniprot
proteins
disease_involvement
DISEASE: Kohlschuetter-Toenz syndrome (KTZS) [MIM:226750]: An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound intellectual disability, never acquire speech, and become bedridden early in life. {ECO:0000269|PubMed:22424600, ECO:0000269|PubMed:22482807, ECO:0000269|PubMed:25565929, ECO:0000269|PubMed:29153277, ECO:0000269|PubMed:41153423}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Probably involved in the regulation of intracellular pH (PubMed:40049412). As part of the RAVE complex it may control the assembly of the proton-pumping V-ATPase complex and therefore regulate organelle acidification (Probable). {ECO:0000269|PubMed:40049412, ECO:0000305|PubMed:40049412}.
uniprot
proteins
mass_dalton
32254
uniprot
proteins
mutagenesis
MUTAGEN 261; /note="F->A: Decreased protein stability."; /evidence="ECO:0000269|PubMed:28638151"; MUTAGEN 271; /note="L->A: Decreased protein stability."; /evidence="ECO:0000269|PubMed:28638151
uniprot
proteins
protein_family
Rogdi family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22424600
uniprot
proteins
pubmed
22482807
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
25565929
uniprot
proteins
pubmed
28638151
uniprot
proteins
pubmed
29153277
uniprot
proteins
pubmed
40049412
uniprot
proteins
pubmed
41153423
uniprot
proteins
sequence_length
287
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus envelope {ECO:0000269|PubMed:22482807}. Presynapse {ECO:0000250|UniProtKB:Q4V7D2}. Cell projection, axon {ECO:0000250|UniProtKB:Q4V7D2}. Perikaryon {ECO:0000250|UniProtKB:Q4V7D2}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q4V7D2}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000250|UniProtKB:Q4V7D2}. Cytoplasm {ECO:0000250|UniProtKB:Q3TDK6}. Lysosome {ECO:0000250|UniProtKB:Q3TDK6}. Note=Detected primarily at presynaptic sites on axons, and to a lesser degree in soma and dendrites. Not detected at post-synaptic sites. {ECO:0000250|UniProtKB:Q4V7D2}.
uniprot
proteins