Ostm1
entrez
14628
canonical
uniprot
Q8BGT0
canonical
ensembl
ENSMUSG00000038280
resolver
ensp
ENSMUSP00000035516
resolver
enst
ENSMUST00000040718
resolver
genesymbol
Ostm1
resolver
genesymbol_syn
Gl
resolver
uniprot_entry
OSTM1_MOUSE
resolver
amino_acid_sequence
MARDAELARSSGWPWRWLPALLLLQLLRWRCALCALPFTSSRHPGFADLLSEQQLLEVQDLTLSLLQGGGLGPLSLLPPDLPDLEPECRELLMDFANSSAELTACMVRSARPVRLCQTCYPLFQQVAIKMDNISRNIGNTSEGPRCGGSLLTADRMQIVLMVSEFFNSTWQEANCANCLTNNGEDLSNNTEDFLSLFNKTLACFEHNLQGHTYSLLPPKNYSEVCRNCKEAYKNLSLLYSQMQKLNGLENKAEPETHLCIDVEDAMNITRKLWSRTFNCSVTCSDTVSVVAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENAT
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Ostm1 are the cause of the spontaneous gray-lethal (gl) mutant, which is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. {ECO:0000269|PubMed:12627228}.
uniprot
proteins
function
FUNCTION: Required for osteoclast and melanocyte maturation and function. {ECO:0000269|PubMed:12627228, ECO:0000269|PubMed:16525474}.
uniprot
proteins
mass_dalton
38000
uniprot
proteins
post_translational_modification
PTM: Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein. {ECO:0000269|PubMed:16525474}.; PTM: Highly N-glycosylated. {ECO:0000269|PubMed:16525474}.
uniprot
proteins
protein_family
OSTM1 family
uniprot
proteins
pubmed
12627228
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
16525474
uniprot
proteins
pubmed
17242355
uniprot
proteins
pubmed
19144319
uniprot
proteins
pubmed
21183079
uniprot
proteins
sequence_length
338
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:12627228, ECO:0000269|PubMed:16525474}; Single-pass type I membrane protein {ECO:0000269|PubMed:12627228, ECO:0000269|PubMed:16525474}. Note=Requires CLCN7 to travel to lysosomes.
uniprot
proteins
transmembrane_region
TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins