LMBRD1
entrez
55788
canonical
uniprot
Q9NUN5
canonical
ensembl
ENSG00000168216
resolver
ensp
ENSP00000359602
resolver
ensp
ENSP00000497135
resolver
ensp
ENSP00000497302
resolver
ensp
ENSP00000497690
resolver
genesymbol
LMBRD1
resolver
genesymbol_syn
C6orf209
resolver
genesymbol_syn
NESI
resolver
hgnc
HGNC:23038
resolver
uniprot
A8K204
resolver
uniprot
E1P531
resolver
uniprot
Q5VUN6
resolver
uniprot
Q86Y70
resolver
uniprot
Q96FW4
resolver
uniprot
Q9BY56
resolver
uniprot
Q9NZD6
resolver
uniprot_entry
LMBD1_HUMAN
resolver
uniprot_sec
A8K204
resolver
uniprot_sec
E1P531
resolver
uniprot_sec
Q5VUN6
resolver
uniprot_sec
Q86Y70
resolver
uniprot_sec
Q96FW4
resolver
uniprot_sec
Q9BY56
resolver
uniprot_sec
Q9NZD6
resolver
amino_acid_sequence
MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALITSALLPVDIFLVSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVYFYYEEKDDDDTSKCTQIKTALKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSLFEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYERLENTEDIEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGALRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQTVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLIVLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRTYLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA
uniprot
proteins
disease_involvement
DISEASE: Methylmalonic aciduria and homocystinuria, cblF type (MAHCF) [MIM:277380]: An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). It is due to accumulation of free cobalamin in lysosomes, thus hindering its conversion to cofactors. Clinical features include developmental delay, stomatitis, glossitis, seizures and methylmalonic aciduria responsive to vitamin B12. {ECO:0000269|PubMed:19136951}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors (PubMed:19136951). Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome (PubMed:27456980). Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane (PubMed:25535791). Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR) (By similarity). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2 (By similarity). Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis (By similarity). {ECO:0000250|UniProtKB:Q8K0B2, ECO:0000269|PubMed:19136951, ECO:0000269|PubMed:27456980, ECO:0000303|PubMed:25535791}.; FUNCTION: [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV). {ECO:0000269|PubMed:15956556}.
uniprot
proteins
mass_dalton
61389
uniprot
proteins
mutagenesis
MUTAGEN 78; /note="N->Q: Does not affect glycosylation status; when associated with Q-88."; /evidence="ECO:0000269|PubMed:19136951"; MUTAGEN 88; /note="N->Q: Does not affect glycosylation status; when associated with Q-78."; /evidence="ECO:0000269|PubMed:19136951"; MUTAGEN 448; /note="N->Q: Affects glycosylation status; when associated with Q-457."; /evidence="ECO:0000269|PubMed:19136951"; MUTAGEN 457; /note="N->Q: Affects glycosylation status. Affects glycosylation status; when associated with Q-448."; /evidence="ECO:0000269|PubMed:19136951
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:19136951}.
uniprot
proteins
protein_family
LIMR family
uniprot
proteins
protein_family
LMBRD1 subfamily
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15956556
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19136951
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
25535791
uniprot
proteins
pubmed
27456980
uniprot
proteins
pubmed
28572511
uniprot
proteins
pubmed
33845046
uniprot
proteins
sequence_length
540
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:27456980}. Lysosome membrane {ECO:0000269|PubMed:19136951, ECO:0000269|PubMed:27456980, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:33845046}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:Q8K0B2}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:Q8K0B2}.
uniprot
proteins
transmembrane_region
TRANSMEM 11..31; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 51..71; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 101..121; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 145..165; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 189..209; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 306..326; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 365..385; /note="Helical; Name=7"; /evidence="ECO:0000255"; TRANSMEM 409..429; /note="Helical; Name=8"; /evidence="ECO:0000255"; TRANSMEM 487..507; /note="Helical; Name=9"; /evidence="ECO:0000255
uniprot
proteins