LRP12
entrez
29967
canonical
uniprot
Q9Y561
canonical
ensembl
ENSG00000147650
resolver
ensp
ENSP00000276654
resolver
ensp
ENSP00000399148
resolver
genesymbol
LRP12
resolver
genesymbol_syn
ST7
resolver
hgnc
HGNC:31708
resolver
uniprot
A8K137
resolver
uniprot
B4DRQ2
resolver
uniprot
Q59H02
resolver
uniprot_entry
LRP12_HUMAN
resolver
uniprot_entry
Q59H02_HUMAN
resolver
uniprot_sec
A8K137
resolver
uniprot_sec
B4DRQ2
resolver
amino_acid_sequence
MACRWSTKESPRWRSALLLLFLAGVYGNGALAEHSENVHISGVSTACGETPEQIRAPSGIITSPGWPSEYPAKINCSWFIRANPGEIITISFQDFDIQGSRRCNLDWLTIETYKNIESYRACGSTIPPPYISSQDHIWIRFHSDDNISRKGFRLAYFSGKSEEPNCACDQFRCGNGKCIPEAWKCNNMDECGDSSDEEICAKEANPPTAAAFQPCAYNQFQCLSRFTKVYTCLPESLKCDGNIDCLDLGDEIDCDVPTCGQWLKYFYGTFNSPNYPDFYPPGSNCTWLIDTGDHRKVILRFTDFKLDGTGYGDYVKIYDGLEENPHKLLRVLTAFDSHAPLTVVSSSGQIRVHFCADKVNAARGFNATYQVDGFCLPWEIPCGGNWGCYTEQQRCDGYWHCPNGRDETNCTMCQKEEFPCSRNGVCYPRSDRCNYQNHCPNGSDEKNCFFCQPGNFHCKNNRCVFESWVCDSQDDCGDGSDEENCPVIVPTRVITAAVIGSLICGLLLVIALGCTCKLYSLRMFERRSFETQLSRVEAELLRREAPPSYGQLIAQGLIPPVEDFPVCSPNQASVLENLRLAVRSQLGFTSVRLPMAGRSSNIWNRIFNFARSRHSGSLALVSADGDEVVPSQSTSREPERNHTHRSLFSVESDDTDTENERRDMAGASGGVAAPLPQKVPPTTAVEATVGACASSSTQSTRGGHADNGRDVTSVEPPSVSPARHQLTSALSRMTQGLRWVRFTLGRSSSLSQNQSPLRQLDNGVSGREDDDDVEMLIPISDGSSDFDVNDCSRPLLDLASDQGQGLRQPYNATNPGVRPSNRDGPCERCGIVHTAQIPDTCLEVTLKNETSDDEALLLC
uniprot
proteins
disease_involvement
DISEASE: Oculopharyngodistal myopathy 1 (OPDM1) [MIM:164310]: A form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant. {ECO:0000269|PubMed:31332380}. Note=The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene (PubMed:31332380, PubMed:37339631). The number of repeats in OPDM1 patients is usually greater than 100 (PubMed:37339631). {ECO:0000269|PubMed:31332380, ECO:0000269|PubMed:37339631}.; DISEASE: Amyotrophic lateral sclerosis 28 (ALS28) [MIM:620452]: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency. {ECO:0000269|PubMed:37339631}. Note=The disease is caused by variants affecting the gene represented in this entry. The causative mutation is a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the gene. The number of repeats in ALS28 patients is between 61 and 100. {ECO:0000269|PubMed:37339631}.
uniprot
proteins
function
FUNCTION: Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor. {ECO:0000269|PubMed:12809483}.
uniprot
proteins
mass_dalton
94984
uniprot
proteins
protein_family
LDLR family
uniprot
proteins
pubmed
12809483
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
31332380
uniprot
proteins
pubmed
37339631
uniprot
proteins
pubmed
9927190
uniprot
proteins
sequence_length
859
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12809483}; Single-pass type I membrane protein {ECO:0000269|PubMed:12809483}. Membrane, coated pit {ECO:0000269|PubMed:12809483}.
uniprot
proteins
transmembrane_region
TRANSMEM 493..513; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins