Lmbrd1 LMBR1 domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lmbrd1provided by MGI
Official Full Name: LMBR1 domain containing 1provided by MGI
Primary source: MGI:MGI:1915671
See related: Ensembl:ENSMUSG00000073725 AllianceGenome:MGI:1915671
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: LMBD1; 0910001K20Rik
Summary: Enables AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and insulin receptor binding activity. Involved in clathrin-dependent endocytosis; gastrulation; and insulin receptor internalization. Located in clathrin-coated endocytic vesicle; lysosome; and plasma membrane. Is expressed in several structures, including extraembryonic component; hepatic primordium; liver; neural ectoderm; and primitive streak. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblF. Orthologous to human LMBRD1 (LMBR1 domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in cerebellum adult (RPKM 16.7), cortex adult (RPKM 16.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A5; 1 10.18 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (24716073..24805382)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (24676992..24766301)

Chromosome 1 - NC_000067.7 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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

By studying the heterozygous knockout of Lmbrd1 (Lmbrd1(+/-)), we discovered that lack of Lmbrd1 not only resulted in the increase of cardiac-glucose uptake, pathological consequences were also observed. The results suggested that Lmbrd1 gene not only plays a significant role in mediating the energy homeostasis in cardiac tissue, it may also be a key factor in the regulation of cardiac function in mice.
Title: Single allele Lmbrd1 knockout results in cardiac hypertrophy.
the physiological function of LMBRD1 during embryogenesis, is reported.
Title: Lmbrd1 expression is essential for the initiation of gastrulation.
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.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (5) 1 citation

General gene information

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Markers

G67044 (e-PCR)
- UniSTS:178253

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:234096

AV347960 (e-PCR)
- UniSTS:178364

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables clathrin heavy chain binding	IDA Inferred from Direct Assay more info	PubMed
enables cobalamin binding	IEA Inferred from Electronic Annotation more info
enables insulin receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transporter activity	ISO Inferred from Sequence Orthology more info	PubMed

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

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

General protein information

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Preferred Names: lysosomal cobalamin transport escort protein LMBD1

Names: LMBR1 domain-containing protein 1; probable lysosomal cobalamin transporter; protein N90b

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.

mRNA and Protein(s)

NM_001310483.1 → NP_001297412.1 lysosomal cobalamin transport escort protein LMBD1 isoform 2

See identical proteins and their annotated locations for NP_001297412.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1, which results in translation from a downstream AUG. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC116997, AC153019, AK158982

Consensus CDS

CCDS78556.1

UniProtKB/Swiss-Prot

Q8K0B2

Related

ENSMUSP00000092672.5, ENSMUST00000095062.10

Conserved Domains (1) summary

pfam04791
Location:28 → 328

LMBR1; LMBR1-like membrane protein
NM_026719.2 → NP_080995.2 lysosomal cobalamin transport escort protein LMBD1 isoform 1

See identical proteins and their annotated locations for NP_080995.2

Status: VALIDATED

Description

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

Source sequence(s)

AI504365, AK032560, AK158982, AK167080, BY291845, BY322390

Consensus CDS

CCDS35528.1

UniProtKB/Swiss-Prot

Q3U696, Q8CCL7, Q8K0B2, Q8R3D6, Q8VH50, Q9CW67

Related

ENSMUSP00000140783.2, ENSMUST00000191471.7

Conserved Domains (1) summary

pfam04791
Location:17 → 398

LMBR1; LMBR1-like membrane protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

24716073..24805382

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017322292.3 → XP_017177781.1 lysosomal cobalamin transport escort protein LMBD1 isoform X1

Conserved Domains (1) summary

pfam04791
Location:14 → 397

LMBR1; LMBR1-like membrane protein
XM_030242602.2 → XP_030098462.1 lysosomal cobalamin transport escort protein LMBD1 isoform X2

Conserved Domains (1) summary

pfam04791
Location:28 → 327

LMBR1; LMBR1-like membrane protein