LRPAP1
entrez
4043
canonical
uniprot
P30533
canonical
ensembl
ENSG00000163956
resolver
ensp
ENSP00000497444
resolver
enst
ENST00000650182
resolver
genesymbol
LRPAP1
resolver
genesymbol_syn
A2MRAP
resolver
hgnc
HGNC:6701
resolver
uniprot
D3DVR9
resolver
uniprot
Q2M310
resolver
uniprot
Q53HQ3
resolver
uniprot
Q53HS6
resolver
uniprot_entry
AMRP_HUMAN
resolver
uniprot_sec
D3DVR9
resolver
uniprot_sec
Q2M310
resolver
uniprot_sec
Q53HQ3
resolver
uniprot_sec
Q53HS6
resolver
amino_acid_sequence
MAPRRVRSFLRGLPALLLLLLFLGPWPAASHGGKYSREKNQPKPSPKRESGEEFRMEKLNQLWEKAQRLHLPPVRLAELHADLKIQERDELAWKKLKLDGLDEDGEKEARLIRNLNVILAKYGLDGKKDARQVTSNSLSGTQEDGLDDPRLEKLWHKAKTSGKFSGEELDKLWREFLHHKEKVHEYNVLLETLSRTEEIHENVISPSDLSDIKGSVLHSRHTELKEKLRSINQGLDRLRRVSHQGYSTEAEFEEPRVIDLWDLAQSANLTDKELEAFREELKHFEAKIEKHNHYQKQLEIAHEKLRHAESVGDGERVSRSREKHALLEGRTKELGYTVKKHLQDLSGRISRARHNEL
uniprot
proteins
disease_involvement
DISEASE: Myopia 23, autosomal recessive (MYP23) [MIM:615431]: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. {ECO:0000269|PubMed:23830514}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway. {ECO:0000269|PubMed:32296178, ECO:0000269|PubMed:7774585}.
uniprot
proteins
mass_dalton
41466
uniprot
proteins
mutagenesis
MUTAGEN 283; /note="H->A: Strongly reduced interaction with LRP1; when associated with A-291; A-293; A-302; A-307 and A-341."; /evidence="ECO:0000269|PubMed:16678114"; MUTAGEN 290; /note="K->A: Reduces competition with MAPT for binding to LRP1; when associated with A-304."; /evidence="ECO:0000269|PubMed:32296178"; MUTAGEN 291; /note="H->A: Strongly reduced interaction with LRP1; when associated with A-283; A-293; A-302; A-307 and A-341."; /evidence="ECO:0000269|PubMed:16678114"; MUTAGEN 293; /note="H->A: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-302; A-307 and A-341."; /evidence="ECO:0000269|PubMed:16678114"; MUTAGEN 302; /note="H->A: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-293; A-307 and A-341."; /evidence="ECO:0000269|PubMed:16678114"; MUTAGEN 304; /note="K->A: Reduces competition with MAPT for binding to LRP1; when associated with A-290."; /evidence="ECO:0000269|PubMed:32296178"; MUTAGEN 307; /note="H->A: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-293; A-302 and A-341."; /evidence="ECO:0000269|PubMed:16678114"; MUTAGEN 341; /note="H->A: Strongly reduced interaction with LRP1; when associated with A-283; A-291; A-293; A-302 and A-307."; /evidence="ECO:0000269|PubMed:16678114
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:16678114, ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:7774585}.
uniprot
proteins
protein_family
Alpha-2-MRAP family
uniprot
proteins
pubmed
11294867
uniprot
proteins
pubmed
11384978
uniprot
proteins
pubmed
12530537
uniprot
proteins
pubmed
12766414
uniprot
proteins
pubmed
1400426
uniprot
proteins
pubmed
15053742
uniprot
proteins
pubmed
15364913
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16630895
uniprot
proteins
pubmed
16678114
uniprot
proteins
pubmed
16938309
uniprot
proteins
pubmed
1712782
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23830514
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26858303
uniprot
proteins
pubmed
32296178
uniprot
proteins
pubmed
7774585
uniprot
proteins
pubmed
7789983
uniprot
proteins
pubmed
8940146
uniprot
proteins
pubmed
9207124
uniprot
proteins
pubmed
9782079
uniprot
proteins
sequence_length
357
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Rough endoplasmic reticulum lumen {ECO:0000269|PubMed:7774585}. Endoplasmic reticulum-Golgi intermediate compartment lumen {ECO:0000269|PubMed:7774585}. Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:7774585}. Golgi apparatus lumen {ECO:0000269|PubMed:7774585}. Endosome lumen {ECO:0000269|PubMed:7774585}. Cell surface {ECO:0000269|PubMed:11384978}. Note=May be associated with receptors at the cell surface. {ECO:0000269|PubMed:11384978}.
uniprot
proteins