LMBRD1 - LMBR1 domain containing 1 Gene

Also Known as NESI; LMBD1; MAHCF; C6orf209

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55788

About LMBRD1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:69,674,010-69,797,010 (from NCBI)

This gene has 37 transcripts (splice variants), 203 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 45.7), kidney (RPKM 42.7) and 25 other tissues.

Summary

This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]

LMBRD1 Products (4)

mRNA	Protein	Name
NM_001363722.2	NP_001350651.1	lysosomal cobalamin transport escort protein LMBD1 isoform 2
NM_001367271.1	NP_001354200.1	lysosomal cobalamin transport escort protein LMBD1 isoform 2
NM_001367272.1	NP_001354201.1	lysosomal cobalamin transport escort protein LMBD1 isoform 2
NM_018368.4	NP_060838.3	lysosomal cobalamin transport escort protein LMBD1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25535791	GOA
enables protein transporter activity	IDA IDA: Inferred from direct assay	27456980	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein localization to lysosome	IDA IDA: Inferred from direct assay	27456980	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	27456980	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	27456980	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMBRD1 Protein Structure

LMBR1

0
100
200
300
400
500
540 a.a.

Protein Preferred Names	Protein Names
lysosomal cobalamin transport escort protein LMBD1	HDAg-L-interacting protein NESI

LMBRD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LMBRD1	Q9NUN5	ABCD4	Homo sapiens	O14678	FRET	28572511

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic Aciduria And Homocystinuria Type Cblf MAHCF Methylmalonic Aciduria Due To Vitamin B12-Release Defect Vitamin B12 Lysosomal Release Defect Cobalamin F Disease Cblf Methylmalonic Acidemia And Homocystinuria, Cblf Type Cobalamin, Defect In Lysosomal Release Of Vitamin B12 Storage Disease Cobalamin F Deficiency Methylmalonic Acidemia With Homocystinuria Type Cblf Cblf Defect Cobalamin F Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf Lysosomal Membrane Cobalamin Transporter Deficiency Methylmalonic Aciduria With Homocystinuria, Type Cblf Methylcobalamin Deficiency Tape F Methylmalonic Acidemia And Homocystinuria Cblf Type Vitamin B12 Storage Defect Aciduria, Methylmalonic, And Homocystinuria, Cblf Type
Hepatitis	Chronic Hepatitis Chronic Persistent Hepatitis Acute Hepatitis Hepatitis, Chronic Acute And Subacute Liver Necrosis Acute/Subac. Necrosis Of Liver Animal Hepatitis Hepatitis Chronic Hepatitis A Hepatitis, Animal Hepatitis Due To Toxoplasmosis Hepatitis In Toxoplasmosis Toxoplasmal Hepatitis Chronic Hepatitis, Unspecified Chronic Active Hepatitis Nec Other Specified Chronic Hepatitis Chronic Persistent Hepatitis Nec Chronic Lobular Hepatitis Nec
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Glossitis	Inflammation Of Tongue Tongue Inflammation Glazed Tongue
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Combined Oxidative Phosphorylation Deficiency 32	COXPD32
Arthrogryposis Multiplex Congenita-3
Transcobalamin Ii Deficiency	TCN2 DEFICIENCY Tc Ii Deficiency Transcobalamin Deficiency Tc Deficiency Inherited Deficiency Of Transcobalamin
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Cbld Type, Variant 1 Methylmalonic Aciduria And Homocystinuria Type Cbld Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2 MAHCD Methylmalonic Acidemia And Homocystinuria, Cbld Type Methylmalonic Aciduria, Cblh Type, Formerly Methylmalonic Acidemia, Cblh Type, Formerly Methylmalonic Aciduria, Cbld Type, Variant 2 Cobalamin D Deficiency Methylcobalamin Deficiency Type Cbldv1 Functional Methionine Synthase Deficiency Type Cbldv1 Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2 Methylmalonic Acidemia With Homocystinuria, Type Cbld Cbld Defect Cobalamin D Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld Methylmalonic Aciduria With Homocystinuria, Type Cbld Homocystinuria Cbld Variant 1 Methylmalonic Acidemia And Homocystinuria Cbld Type Methylmalonic Aciduria And Homocystinuria Cbld-Combined Methylmalonic Aciduria And Homocystinuria Cbld Original Methylmalonic Aciduria Cbld Variant 2 Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
Methylmalonic Aciduria, Cbla Type	Methylmalonic Acidemia Cbla Type Methylmalonic Aciduria Cbla Type Methylmalonic Acidemia, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla Methylmalonic Aciduria Type Cbla MMAA Methylmalonic Aciduria Type A Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A Aciduria, Methylmalonic, Cbla Type Methylmalonic Aciduria Cbla Type
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Gallbladder Papillomatosis
Gaucher Disease, Type Iii	Gaucher Disease, Subacute Neuronopathic Type Gd Iii Gaucher Disease, Chronic Neuronopathic Type Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease Type 3 GD3 Gaucher'S Disease Type Iii Gaucher Disease Type Iii Gd 3 Cerebral Juvenile And Adult Form Of Gaucher Disease Chronic Neuronopathic Gaucher Disease Gaucher Disease 3 Cerebral, Juvenile And Adult, Gaucher Disease Gaucher Disease Chronic Neuronopathic Type Gaucher Disease Type Ii Subacute Neuronopathic Gaucher Disease Type 3 Gaucher Disease Gaucher Disease, Type 3 Gaucher Disease, Type 2
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Gm1-Gangliosidosis, Type Iii	Gm1 Gangliosidosis Type 3 GM1G3 Gangliosidosis, Generalized Gm1, Type 3 Adult-Onset Gm1 Gangliosidosis Gangliosidosis Gm1 Type 3 Gangliosidosis Generalized Gm1 Chronic Type Gangliosidosis, Generalized Gm1, Adult Type Gangliosidosis, Generalized Gm1, Chronic Type Gangliosidosis, Generalized Gm1, Type Iii Adult Gm1 Gangliosidosis Beta-Galactosidase Deficiency Type 3 Gm1-Gangliosidosis 3 Gangliosidosis Generalized Gm1 Type 3 Gm1-Gangliosidosis Generalized Adult Type Gangliosidosis, Gm1 Type Iii
Vitamin Metabolic Disorder
Combined Malonic And Methylmalonic Aciduria	CMAMMA Combined Malonic And Methylmalonic Acidemia Aciduria, Combined Malonic And Methylmalonic
Methylmalonic Aciduria, Cblb Type	Methylmalonic Aciduria Cblb Type Methylmalonic Acidemia Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type Methylmalonic Acidemia, Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb Methylmalonic Aciduria Type Cblb MMAB Methylmalonic Aciduria Type B Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B Aciduria, Methylmalonic, Cblb Type Methylmalonic Acidemia Methylmalonic Aciduria
Spondylometaphyseal Dysplasia, Corner Fracture Type	SMDCF Spondylometaphyseal Dysplasia, Sutcliffe Type Spondylometaphyseal Dysplasia Corner Fracture Type Spondylometaphyseal Dysplasia, 'Corner Fracture' Type Spondylometaphyseal Dysplasia Sutcliffe Type Sutcliffe Type Of Spondylometaphyseal Dysplasia Spondylometaphyseal Dysplasia - Sutcliffe Type Smd, Corner Fractures Type Smd, Sutcliffe Type Sutcliffe Smd Dysplasia, Spondylometaphyseal, Corner Fracture Type
Propionic Acidemia	Ketotic Hyperglycinemia Propionyl-Coa Carboxylase Deficiency Pcc Deficiency Propionicacidemia Glycinemia, Ketotic Hyperglycinemia With Ketoacidosis And Leukopenia Ketotic Glycinemia Propionic Aciduria Prop Acidemia, Propionic PA-1 Ketotic Ii Glycinemia Hyperglycinemia, Ketotic Propionic Acidemia Type I Propionic Acidemia Type Ii PA-2 Propionicaciduria
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	EDMD4 Emery-Dreifuss Muscular Dystrophy 4 With Variable Features Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 Emd4 Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
Glutamate Formiminotransferase Deficiency	Formiminoglutamic Aciduria Formiminotransferase Deficiency FIGLU-URIA Arakawa Syndrome 1 Formiminoglutamic Acidemia Formiminotransferase Cyclodeaminase Deficiency Formiminotransferase Deficiency Syndrome Ftcd Deficiency Formiminoglutamicaciduria Figluria
Biotinidase Deficiency	Late-Onset Multiple Carboxylase Deficiency BTD DEFICIENCY Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency, Juvenile-Onset Juvenile-Onset Multiple Carboxylase Deficiency Biotin Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiency Of Biotinidase Biot Carboxylase Deficiency, Multiple, Late-Onset Late-Onset Mcd Mcd Juvenile Form Biotin Deficiency Disease
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07708	LMBRD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LMBRD1	MGD	MGI:1915671
Macaca mulatta	LMBRD1	VGNC	VGNC:74335
Rattus norvegicus	LMBRD1	RGD	RGD:708471
Bos taurus	LMBRD1	VGNC	VGNC:30924
Canis familiaris	LMBRD1	VGNC	VGNC:42712
Felis catus	LMBRD1	VGNC	VGNC:63249
Others	LMBRD1	NCBI