Lmbrd1 LMBR1 domain containing 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Lmbrd1provided by RGD
Official Full Name: LMBR1 domain containing 1provided by RGD
Primary source: RGD:708471
See related: EnsemblRapid:ENSRNOG00000012178 AllianceGenome:RGD:708471
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: LMBD1
Summary: Predicted to enable several functions, including AP-2 adaptor complex binding activity; clathrin heavy chain binding activity; and insulin receptor binding activity. Predicted to be involved in gastrulation; protein localization to lysosome; and receptor-mediated endocytosis. Predicted to be located in several cellular components, including clathrin-coated endocytic vesicle; endoplasmic reticulum membrane; and lysosome. Predicted to be active in lysosomal membrane. 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: Biased expression in Brain (RPKM 336.3), Kidney (RPKM 266.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 9q21

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	9	NC_086027.1 (34592723..34674425)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	9	NC_051344.1 (27096387..27178095)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	9	NC_005108.4 (30939555..31038381)

Chromosome 9 - NC_086027.1 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?

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

General gene information

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Markers

RH135387 (e-PCR)
- UniSTS:218664

RH128704 (e-PCR)
- UniSTS:212012

BF409400 (e-PCR)
- UniSTS:248978

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables AP-2 adaptor complex binding	ISO Inferred from Sequence Orthology more info
enables AP-2 adaptor complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables clathrin heavy chain binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables protein transporter activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in clathrin-dependent endocytosis	ISO Inferred from Sequence Orthology more info
involved_in clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in gastrulation	ISO Inferred from Sequence Orthology more info
involved_in gastrulation	ISS Inferred from Sequence or Structural Similarity more info
involved_in insulin receptor internalization	ISO Inferred from Sequence Orthology 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	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	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated endocytic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
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	IEA Inferred from Electronic Annotation 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	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
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: LMBR1 domain-containing protein 1; liver regeneration p-53 related 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.