Entity Details

Primary name LMBD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NUN5
EntryNameLMBD1_HUMAN
FullNameLysosomal cobalamin transport escort protein LMBD1
TaxID9606
Evidenceevidence at protein level
Length540
SequenceStatuscomplete
DateCreated2006-11-28
DateModified2021-06-02

Ontological Relatives

GenesLMBRD1

GO terms

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GOName
GO:0005765 lysosomal membrane
GO:0005774 vacuolar membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0007369 gastrulation
GO:0009235 cobalamin metabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016032 viral process
GO:0030136 clathrin-coated vesicle
GO:0031419 cobalamin binding
GO:0032050 clathrin heavy chain binding
GO:0035612 AP-2 adaptor complex binding
GO:0038016 insulin receptor internalization
GO:0043231 intracellular membrane-bounded organelle
GO:0045334 clathrin-coated endocytic vesicle
GO:0061462 protein localization to lysosome
GO:0072583 clathrin-dependent endocytosis
GO:0072665 protein localization to vacuole

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasmic vesicle
Endoplasmic reticulum membrane
Lysosome membrane

Domains

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DomainNameCategoryType
IPR006876 LMBR1-like membrane proteinFamilyFamily

Diseases

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Disease IDSourceNameDescription
277380 OMIMMethylmalonic aciduria and homocystinuria, cblF type (MAHCF)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
LMBD1_HUMANTCP11_HUMANBioGRID, IntAct32296183 details
LMBD1_HUMANABCD4_HUMANIntAct28572511 details