LMBRD1 LMBR1 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LMBRD1provided by HGNC
Official Full Name: LMBR1 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:23038
See related: Ensembl:ENSG00000168216 MIM:612625; AllianceGenome:HGNC:23038
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NESI; LMBD1; MAHCF; C6orf209
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]
Expression: Ubiquitous expression in adrenal (RPKM 45.7), kidney (RPKM 42.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (69674010..69797010, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (70854076..70977089, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (70383902..70506902, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1
Title: Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1.
Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4)
Title: Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B(12)-trafficking proteins ABCD4 and LMBD1.
Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC.
Title: Purification and interaction analyses of two human lysosomal vitamin B12 transporters: LMBD1 and ABCD4.
LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR.
Title: LMBD1 protein serves as a specific adaptor for insulin receptor internalization.
These data indicate that by forming complexes with lamin A/C and nucleoporins, NESI facilitates the CRM1-independent nuclear export of large hepatitis delta antigen.
Title: Nuclear export signal-interacting protein forms complexes with lamin A/C-Nups to mediate the CRM1-independent nuclear export of large hepatitis delta antigen.
novel mutations in LMBRD1 in three patients
Title: Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
LMBRD1: the gene for the cblF defect of vitamin B metabolism.
Title: LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.
a LMBRD1 mutation causes the cblF defect of vitamin B(12) metabolism in a Turkish patient [case report]
Title: A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin.
Title: Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Methylmalonic aciduria and homocystinuria type cblF MedGen: C1848578 OMIM: 277380 GeneReviews: Disorders of Intracellular Cobalamin Metabolism	Compare labs

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

1030 (e-PCR)
- UniSTS:4352

1062 (e-PCR)
- UniSTS:49939

REN55157 (e-PCR)
- UniSTS:379957

D6S343E (e-PCR)
- UniSTS:10316

WI-13678 (e-PCR)
- UniSTS:63437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables clathrin heavy chain binding	ISS Inferred from Sequence or Structural Similarity more info
enables cobalamin binding	IEA Inferred from Electronic Annotation more info
enables insulin receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in insulin receptor internalization	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to lysosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to lysosome	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in clathrin-coated endocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: lysosomal cobalamin transport escort protein LMBD1

Names: HDAg-L-interacting protein NESI; hepatitis delta antigen-L interacting protein; liver regeneration p-53 related protein; nuclear export signal-interacting protein; probable lysosomal cobalamin transporter

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016012.2 RefSeqGene

Range

74607..197607

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1310

mRNA and Protein(s)

NM_001363722.2 → NP_001350651.1 lysosomal cobalamin transport escort protein LMBD1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AL358133, AL583831, AL590702

Consensus CDS

CCDS87415.1

UniProtKB/TrEMBL

A0A3B3IT31

Related

ENSP00000497302.1, ENST00000648394.1

Conserved Domains (1) summary

pfam04791
Location:28 → 328

LMBR1; LMBR1-like membrane protein
NM_001367271.1 → NP_001354200.1 lysosomal cobalamin transport escort protein LMBD1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AL358133, AL583831, AL590702

Consensus CDS

CCDS87415.1

UniProtKB/TrEMBL

A0A3B3IT31

Related

ENSP00000497387.1, ENST00000649679.1

Conserved Domains (1) summary

pfam04791
Location:28 → 328

LMBR1; LMBR1-like membrane protein
NM_001367272.1 → NP_001354201.1 lysosomal cobalamin transport escort protein LMBD1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' structure, resulting in the use of a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 3 and 4 encode the same isoform.

Source sequence(s)

AK290069, AL358133, AL590702

Consensus CDS

CCDS87415.1

UniProtKB/TrEMBL

A0A3B3IT31

Related

ENSP00000359602.1, ENST00000370570.6

Conserved Domains (1) summary

pfam04791
Location:28 → 328

LMBR1; LMBR1-like membrane protein
NM_018368.4 → NP_060838.3 lysosomal cobalamin transport escort protein LMBD1 isoform 1

See identical proteins and their annotated locations for NP_060838.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL358133, AL583831, BC047073, BJ995961, DA028310

Consensus CDS

CCDS4969.1

UniProtKB/Swiss-Prot

A8K204, E1P531, Q5VUN6, Q86Y70, Q96FW4, Q9BY56, Q9NUN5, Q9NZD6

UniProtKB/TrEMBL

A0A3B3IT31

Related

ENSP00000497690.1, ENST00000649934.3

Conserved Domains (1) summary

pfam04791
Location:17 → 401

LMBR1; LMBR1-like membrane protein