Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55788
Gene name Gene Name - the full gene name approved by the HGNC.	LMBR1 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LMBRD1
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf209, LMBD1, MAHCF, NESI
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MAHCF
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200639044	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs749272546	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs779151199	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1562112641	G>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(47)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019020	hsa-miR-335-5p	Microarray	18185580
MIRT1111476	hsa-miR-1305	CLIP-seq
MIRT1111477	hsa-miR-3609	CLIP-seq
MIRT1111478	hsa-miR-3613-3p	CLIP-seq
MIRT1111479	hsa-miR-4307	CLIP-seq
MIRT1111480	hsa-miR-4504	CLIP-seq
MIRT1111481	hsa-miR-4795-3p	CLIP-seq
MIRT1111482	hsa-miR-548ah	CLIP-seq
MIRT1111483	hsa-miR-548t	CLIP-seq
MIRT1111484	hsa-miR-607	CLIP-seq
MIRT2031128	hsa-miR-376c	CLIP-seq
MIRT2031129	hsa-miR-584	CLIP-seq
MIRT2561781	hsa-miR-200b	CLIP-seq
MIRT2561782	hsa-miR-200c	CLIP-seq
MIRT2561783	hsa-miR-3163	CLIP-seq
MIRT2561784	hsa-miR-3651	CLIP-seq
MIRT2561785	hsa-miR-3682-5p	CLIP-seq
MIRT2561786	hsa-miR-369-3p	CLIP-seq
MIRT2561787	hsa-miR-374a	CLIP-seq
MIRT2561788	hsa-miR-374b	CLIP-seq
MIRT2561789	hsa-miR-374c	CLIP-seq
MIRT2561790	hsa-miR-409-3p	CLIP-seq
MIRT2561791	hsa-miR-429	CLIP-seq
MIRT2561792	hsa-miR-4666-3p	CLIP-seq
MIRT2561793	hsa-miR-4766-3p	CLIP-seq
MIRT2561794	hsa-miR-511	CLIP-seq
MIRT2561795	hsa-miR-548c-3p	CLIP-seq
MIRT2561796	hsa-miR-548p	CLIP-seq
MIRT2561797	hsa-miR-570	CLIP-seq
MIRT2561798	hsa-miR-655	CLIP-seq
MIRT2561781	hsa-miR-200b	CLIP-seq
MIRT2561782	hsa-miR-200c	CLIP-seq
MIRT2561783	hsa-miR-3163	CLIP-seq
MIRT2561784	hsa-miR-3651	CLIP-seq
MIRT2561785	hsa-miR-3682-5p	CLIP-seq
MIRT2561786	hsa-miR-369-3p	CLIP-seq
MIRT2561787	hsa-miR-374a	CLIP-seq
MIRT2561788	hsa-miR-374b	CLIP-seq
MIRT2561789	hsa-miR-374c	CLIP-seq
MIRT2561790	hsa-miR-409-3p	CLIP-seq
MIRT2561791	hsa-miR-429	CLIP-seq
MIRT2561792	hsa-miR-4666-3p	CLIP-seq
MIRT2561793	hsa-miR-4766-3p	CLIP-seq
MIRT2561794	hsa-miR-511	CLIP-seq
MIRT2561796	hsa-miR-548p	CLIP-seq
MIRT2561797	hsa-miR-570	CLIP-seq
MIRT2561798	hsa-miR-655	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25535791
GO:0005765	Component	Lysosomal membrane	IBA	21873635
GO:0005765	Component	Lysosomal membrane	IDA	27456980
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005774	Component	Vacuolar membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	27456980
GO:0009235	Process	Cobalamin metabolic process	TAS
GO:0015420	Function	ABC-type vitamin B12 transporter activity	TAS
GO:0015889	Process	Cobalamin transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016032	Process	Viral process	IEA
GO:0031419	Function	Cobalamin binding	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0061462	Process	Protein localization to lysosome	IBA	21873635
GO:0061462	Process	Protein localization to lysosome	IDA	27456980
GO:0072665	Process	Protein localization to vacuole	IBA	21873635

MIM	HGNC	e!Ensembl
612625	23038	ENSG00000168216

Protein

UniProt ID

Q9NUN5

Protein name

Lysosomal cobalamin transport escort protein LMBD1 (LMBD1) (HDAg-L-interacting protein NESI) (LMBR1 domain-containing protein 1) (Nuclear export signal-interacting protein)

Protein 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:27

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04791	LMBR1	14 → 428	LMBR1-like membrane protein	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 3 is expressed in liver. {ECO:0000269|PubMed:15956556}.

Sequence

MATSGAASAELVIGWCIFGLLLLAILAFCWIYVRKYQSRRESEVVSTITAIFSLAIALIT
SALLPVDIFLVSYMKNQNGTFKDWANANVSRQIEDTVLYGYYTLYSVILFCVFFWIPFVY
FYYEEKDDDDTSKCTQIKTALKYTLGFVVICALLLLVGAFVPLNVPNNKNSTEWEKVKSL
FEELGSSHGLAALSFSISSLTLIGMLAAITYTAYGMSALPLNLIKGTRSAAYERLENTED
IEEVEQHIQTIKSKSKDGRPLPARDKRALKQFEERLRTLKKRERHLEFIENSWWTKFCGA
LRPLKIVWGIFFILVALLFVISLFLSNLDKALHSAGIDSGFIIFGANLSNPLNMLLPLLQ
TVFPLDYILITIIIMYFIFTSMAGIRNIGIWFFWIRLYKIRRGRTRPQALLFLCMILLLI
VLHTSYMIYSLAPQYVMYGSQNYLIETNITSDNHKGNSTLSVPKRCDADAPEDQCTVTRT
YLFLHKFWFFSAAYYFGNWAFLGVFLIGLIVSCCKGKKSVIEGVDEDSDISDDEPSVYSA

Sequence length

540

Interactions

View interactions

	KEGG		Reactome
	Vitamin digestion and absorption Cobalamin transport and metabolism		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Megaloblastic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Homocystinuria	Homocystinuria	rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs121434294, rs121434295, rs267606887 View all (134 more)
Methylmalonic acidemia with homocystinuria	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder), Methylmalonic acidemia with homocystinuria type cblF	rs779151199, rs1562112641, rs118204044, rs118204046, rs397509361, rs118204047, rs397509362, rs118204048, rs397509363, rs397509364, rs398124292, rs387907315, rs2080853826, rs398122908, rs318240758 View all (20 more)	24664876, 21303734, 19136951, 26997947, 27604308
Neutropenia	Neutropenia	rs879253882
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Metabolic Syndrome	Metabolic Syndrome	GWAS
Oligodendroglioma	Oligodendroglioma	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Laterality Defects Autosomal Dominant	Associate	35474353
Methylmalonic acidemia	Associate	35361390
Methylmalonic acidemia with homocystinuria	Associate	34655177
Methylmalonic Aciduria and Homocystinuria CblF Type	Associate	22922874

LMBRD1 (LMBR1 domain containing 1)