LMBR1L - limb development membrane protein 1 like Gene

Homo sapiens

Also known as LIMR

Gene ID: 55716 | Gene type: protein coding

About LMBR1L

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,097,139-49,110,847 (from NCBI)

This gene has 30 transcripts (splice variants), 215 orthologues and 1 paralogue. Broad expression in testis (RPKM 15.2), endometrium (RPKM 7.0) and 24 other tissues.

Summary

Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

LMBR1L Products(11)

mRNA	Protein	Name
NM_001300750.2	NP_001287679.1	protein LMBR1L isoform 2
NM_001300751.2	NP_001287680.1	protein LMBR1L isoform 3
NM_001352161.2	NP_001339090.1	protein LMBR1L isoform 4
NM_001352162.2	NP_001339091.1	protein LMBR1L isoform 5
NM_001352163.2	NP_001339092.1	protein LMBR1L isoform 6
NM_001352164.2	NP_001339093.1	protein LMBR1L isoform 7
NM_001352165.2	NP_001339094.1	protein LMBR1L isoform 8
NM_001352166.2	NP_001339095.1	protein LMBR1L isoform 8
NM_001352167.2	NP_001339096.1	protein LMBR1L isoform 9
NM_001352168.2	NP_001339097.1	protein LMBR1L isoform 9
NM_018113.4	NP_060583.2	protein LMBR1L isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11287427	GOA
enables transmembrane signaling receptor activity	IDA IDA: Inferred from direct assay	11287427	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	12591932	GOA
involved in signal transduction	IDA IDA: Inferred from direct assay	11287427	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	31073040	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11287427	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

LMBR1L Protein Structure

LMBR1

0
100
200
300
400
489 a.a.

Protein Preferred Names

Protein Names

protein LMBR1L

limb development membrane protein 1 like-protein

Related Diseases

Diseases

Alias

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

Scleral Staphyloma

Scleral Ectasia

Staphyloma Of Sclera

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07707	LMBR1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LMBR1L	RGD	RGD:1309631
Bos taurus	LMBR1L	VGNC	VGNC:30923
Mus musculus	LMBR1L	MGD	MGI:1289247
Canis familiaris	LMBR1L	VGNC	VGNC:42711
Macaca mulatta	LMBR1L	VGNC	VGNC:74310
Felis catus	LMBR1L	VGNC	VGNC:63248

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