IFITM5
entrez
387733
canonical
uniprot
A6NNB3
canonical
ensembl
ENSG00000206013
resolver
ensp
ENSP00000372059
resolver
enst
ENST00000382614
resolver
genesymbol
IFITM5
resolver
hgnc
HGNC:16644
resolver
uniprot_entry
IFM5_HUMAN
resolver
amino_acid_sequence
MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFSTLYLNLCCLGFLALAYSIKARDQKVVGDLEAARRFGSKAKCYNILAAMWTLVPPLLLLGLVVTGALHLARLAKDSAAFFSTKFDDADYD
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 5 (OI5) [MIM:610967]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation. {ECO:0000269|PubMed:22863190, ECO:0000269|PubMed:24519609}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for normal bone mineralization. {ECO:0000269|PubMed:24519609}.
uniprot
proteins
mass_dalton
14378
uniprot
proteins
post_translational_modification
PTM: Palmitoylated. {ECO:0000250|UniProtKB:O88728}.
uniprot
proteins
protein_family
CD225/Dispanin family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22363774
uniprot
proteins
pubmed
22863190
uniprot
proteins
pubmed
24058703
uniprot
proteins
pubmed
24519609
uniprot
proteins
sequence_length
132
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24519609}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..57; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 87..107; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins