LMBRD1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0072583Biological processclathrin-dependent endocytosis
GO_0061462Biological processprotein localization to lysosome
GO_0038016Biological processinsulin receptor internalization
GO_0007369Biological processgastrulation
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0030136Cellular componentclathrin-coated vesicle
GO_0005886Cellular componentplasma membrane
GO_0005765Cellular componentlysosomal membrane
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0045334Cellular componentclathrin-coated endocytic vesicle
GO_0032050Molecular functionclathrin heavy chain binding
GO_0031419Molecular functioncobalamin binding
GO_0005158Molecular functioninsulin receptor binding
GO_0035612Molecular functionAP-2 adaptor complex binding
GO_0005515Molecular functionprotein binding
GO_0140318Molecular functionprotein transporter activity

IV. Literature review

[source]
Gene nameLMBRD1
Protein nameLysosomal cobalamin transport escort protein LMBD1 (LMBD1) (HDAg-L-interacting protein NESI) (LMBR1 domain-containing protein 1) (Nuclear export signal-interacting protein)
Lysosomal cobalamin transport escort protein LMBD1 (LMBR1 domain-containing protein 1)
LMBR1 domain containing 1
SynonymsCD001
MSTP044
C6orf209
BM-021
NESI
DescriptionFUNCTION: Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors . Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome . Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane . 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). .; FUNCTION: [Isoform 3]: (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV). .

AccessionsA0A3B3ITR7
A0A3B3IU68
ENST00000648303.1
A0A3B3IRL1
ENST00000649054.1
ENST00000649918.1 [Q9NUN5-3]
A0A494C126
ENST00000649970.1
ENST00000650473.1
ENST00000648635.1
A0A3F2YP66
ENST00000649028.1 [Q9NUN5-3]
A0A3B3IU99
A0A3B3IS10
ENST00000649934.3 [Q9NUN5-1]
ENST00000649795.1
ENST00000650124.1
A0A3B3IRS7
ENST00000472827.2
A0A3B3ITM4
ENST00000649679.1 [Q9NUN5-3]
ENST00000370570.6 [Q9NUN5-3]
ENST00000648743.1 [Q9NUN5-3]
ENST00000649166.1
ENST00000647964.1 [Q9NUN5-3]
A0A3B3IRN0
ENST00000649673.1
A0A3B3ITP2
ENST00000647650.1
ENST00000647669.1
A0A3B3IS99
ENST00000649057.1
ENST00000651675.1
A0A3B3IU91
ENST00000649011.1
ENST00000648394.1 [Q9NUN5-3]
ENST00000648168.1 [Q9NUN5-3]
ENST00000650035.1 [Q9NUN5-3]
ENST00000650107.1 [Q9NUN5-3]
A0A3B3IT65
ENST00000649958.1
A0A3B3IT31
Q9NUN5