OSTM1
entrez
28962
canonical
uniprot
Q86WC4
canonical
ensembl
ENSG00000081087
resolver
ensp
ENSP00000193322
resolver
ensp
ENSP00000514443
resolver
ensp
ENSP00000514450
resolver
ensp
ENSP00000514451
resolver
ensp
ENSP00000514453
resolver
enst
ENST00000193322
resolver
enst
ENST00000492130
resolver
enst
ENST00000699569
resolver
enst
ENST00000699577
resolver
enst
ENST00000699578
resolver
genesymbol
OSTM1
resolver
genesymbol_syn
GL
resolver
hgnc
HGNC:21652
resolver
uniprot
A0A8V8TNX7
resolver
uniprot
A0A8V8TPT7
resolver
uniprot
E1P5E3
resolver
uniprot
Q5R391
resolver
uniprot
Q6PCA7
resolver
uniprot
Q7RTW6
resolver
uniprot
Q8NC29
resolver
uniprot
Q8TC82
resolver
uniprot
Q9Y2S9
resolver
uniprot_entry
A0A8V8TNX7_HUMAN
resolver
uniprot_entry
A0A8V8TPT7_HUMAN
resolver
uniprot_entry
OSTM1_HUMAN
resolver
uniprot_sec
E1P5E3
resolver
uniprot_sec
Q5R391
resolver
uniprot_sec
Q6PCA7
resolver
uniprot_sec
Q7RTW6
resolver
uniprot_sec
Q8NC29
resolver
uniprot_sec
Q8TC82
resolver
uniprot_sec
Q9Y2S9
resolver
amino_acid_sequence
MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFHDLLSEQQLLEVEDLSLSLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCLVRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSEFFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYSEVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCSVPCSDTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN
uniprot
proteins
disease_involvement
DISEASE: Osteopetrosis, autosomal recessive 5 (OPTB5) [MIM:259720]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis 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. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. {ECO:0000269|PubMed:12627228, ECO:0000269|PubMed:16813530}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for osteoclast and melanocyte maturation and function. {ECO:0000250, ECO:0000269|PubMed:21527911}.
uniprot
proteins
mass_dalton
37257
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:0000250}.; PTM: Highly N-glycosylated.
uniprot
proteins
protein_family
OSTM1 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12079282
uniprot
proteins
pubmed
12627228
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16813530
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21527911
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
sequence_length
334
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:21527911}; Single-pass type I membrane protein {ECO:0000269|PubMed:21527911}. Note=Requires CLCN7 to travel to lysosomes.
uniprot
proteins
transmembrane_region
TRANSMEM 285..305; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins