LMBR1L - limb development membrane protein 1 like Gene

Also Known as LIMR

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55716

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 References 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 References 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 References 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

LMBR1: LMBR1-like membrane protein (25 - 451)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07707 LMBR1L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21880 Lmbr1l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28397 Lmbr1l Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others LMBR1L NCBI