Aliases for LMBR1L Gene

Aliases for LMBR1L Gene

  • Limb Development Membrane Protein 1 Like 2 3 5
  • Limb Region 1 Protein Homolog-Like 3 4
  • Protein LMBR1L 3 4
  • KIAA1174 2 4
  • LIMR 3 4
  • Lipocalin-1 Interacting Membrane Receptor 3
  • Lipocalin-1-Interacting Membrane Receptor 4
  • Limb Development Membrane Protein 1-Like 2
  • Lipocalin-Interacting Membrane Receptor 3
  • Limb Region 1 Homolog (Mouse)-Like 2
  • Limb Region 1-Like Protein -Like 3
  • Limb Region 1 Homolog-Like 3
  • FLJ10494 2
  • LMBR1L 5

External Ids for LMBR1L Gene

Previous GeneCards Identifiers for LMBR1L Gene

  • GC12M047778
  • GC12M049490
  • GC12M046523

Summaries for LMBR1L Gene

GeneCards Summary for LMBR1L Gene

LMBR1L (Limb Development Membrane Protein 1 Like) is a Protein Coding gene. Diseases associated with LMBR1L include Immune System Organ Benign Neoplasm and Thymus Lipoma. An important paralog of this gene is LMBR1.

UniProtKB/Swiss-Prot Summary for LMBR1L Gene

  • Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (By similarity). LMBR1L stabilizes the beta-catenin destruction complex that is required for regulating CTNNB1 levels (By similarity). Acts as a LCN1 receptor and can mediate its endocytosis (PubMed:11287427, PubMed:12591932, PubMed:23964685).

Gene Wiki entry for LMBR1L Gene

Additional gene information for LMBR1L Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMBR1L Gene

Genomics for LMBR1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LMBR1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMBR1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMBR1L

Top Transcription factor binding sites by QIAGEN in the LMBR1L gene promoter:
  • C/EBPbeta
  • COUP-TF
  • COUP-TF1
  • HNF-1
  • HNF-1A
  • p53
  • Roaz
  • SEF-1 (1)
  • TBP
  • Zic1

Genomic Locations for LMBR1L Gene

Genomic Locations for LMBR1L Gene
chr12:49,096,551-49,110,900
(GRCh38/hg38)
Size:
14,350 bases
Orientation:
Minus strand
chr12:49,490,919-49,504,683
(GRCh37/hg19)
Size:
13,765 bases
Orientation:
Minus strand

Genomic View for LMBR1L Gene

Genes around LMBR1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMBR1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMBR1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMBR1L Gene

Proteins for LMBR1L Gene

  • Protein details for LMBR1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UX01-LMBRL_HUMAN
    Recommended name:
    Protein LMBR1L
    Protein Accession:
    Q6UX01
    Secondary Accessions:
    • Q969J4
    • Q96BY8
    • Q96HN8
    • Q9NT09
    • Q9NVE1
    • Q9NVU9
    • Q9ULP6

    Protein attributes for LMBR1L Gene

    Size:
    489 amino acids
    Molecular mass:
    55209 Da
    Quaternary structure:
    • Dimer (PubMed:23964685). Can also form higher oligomers (PubMed:23964685). Interacts with LCN1; this interaction mediates the endocytosis of LCN1 (PubMed:11287427, PubMed:12591932, PubMed:23964685). Interacts with UBAC2, FAF2, VCP, AMFR, ZNRF3, CTNNB1, LRP6, GSK3A and GSK3B (PubMed:31073040). Interacts with DVL2 and RNF43 (By similarity). Interaction with SCGB1A1 has been observed in PubMed:16423471, but not in PubMed:23964685 (PubMed:16423471, PubMed:23964685). Interaction with LGB which mediates the endocytosis of LGB has been observed in PubMed:17991420, but not in PubMed:23964685 (PubMed:17991420, PubMed:23964685).
    SequenceCaution:
    • Sequence=BAA86488.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LMBR1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMBR1L Gene

Post-translational modifications for LMBR1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LMBR1L Gene

Domains & Families for LMBR1L Gene

Gene Families for LMBR1L Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LMBR1L Gene

InterPro:
Blocks:
  • Lipocalin-1 interacting membrane receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for LMBR1L Gene

GenScript: Design optimal peptide antigens:
  • Lipocalin-1-interacting membrane receptor (LMBRL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UX01

UniProtKB/Swiss-Prot:

LMBRL_HUMAN :
  • Belongs to the LIMR family.
Family:
  • Belongs to the LIMR family.
genes like me logo Genes that share domains with LMBR1L: view

Function for LMBR1L Gene

Molecular function for LMBR1L Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in lymphocyte development by negatively regulating the canonical Wnt signaling pathway (By similarity). In association with UBAC2 and E3 ubiquitin-protein ligase AMFR, promotes the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (By similarity). LMBR1L stabilizes the beta-catenin destruction complex that is required for regulating CTNNB1 levels (By similarity). Acts as a LCN1 receptor and can mediate its endocytosis (PubMed:11287427, PubMed:12591932, PubMed:23964685).

Phenotypes From GWAS Catalog for LMBR1L Gene

Gene Ontology (GO) - Molecular Function for LMBR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity IDA 11287427
GO:0005515 protein binding IPI 11287427
genes like me logo Genes that share ontologies with LMBR1L: view
genes like me logo Genes that share phenotypes with LMBR1L: view

Animal Models for LMBR1L Gene

MGI Knock Outs for LMBR1L:

Animal Model Products

CRISPR Products

miRNA for LMBR1L Gene

miRTarBase miRNAs that target LMBR1L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMBR1L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LMBR1L Gene

Localization for LMBR1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMBR1L Gene

Cell membrane. Multi-pass membrane protein. Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMBR1L gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 1
cytoskeleton 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for LMBR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 31073040
GO:0005886 plasma membrane IEA,IDA 11287427
GO:0005887 integral component of plasma membrane IBA,IDA 11287427
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with LMBR1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMBR1L Gene

Pathways & Interactions for LMBR1L Gene

PathCards logo

SuperPathways for LMBR1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for LMBR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0006898 receptor-mediated endocytosis IMP 12591932
GO:0007165 signal transduction IBA,IDA 11287427
GO:0016055 Wnt signaling pathway IEA --
GO:0030217 T cell differentiation ISS --
genes like me logo Genes that share ontologies with LMBR1L: view

No data available for Pathways by source and SIGNOR curated interactions for LMBR1L Gene

Drugs & Compounds for LMBR1L Gene

No Compound Related Data Available

Transcripts for LMBR1L Gene

mRNA/cDNA for LMBR1L Gene

11 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMBR1L

Alternative Splicing Database (ASD) splice patterns (SP) for LMBR1L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9a · 9b ·
SP1: - - - - - - - -
SP2: - - - - - - - - - - - -
SP3:
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - - - - -
SP6:
SP7: - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - -
SP12:
SP13: - - - - - - - - -
SP14: - - - - -
SP15:
SP16: - - - - - -
SP17: - - -
SP18: - - - - -
SP19: - - - - - - - - - - - - - -
SP20:
SP21: - - - -
SP22:

ExUns: 9c · 9d ^ 10a · 10b · 10c · 10d · 10e ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b · 21c
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4:
SP5: - - - - - - - - -
SP6:
SP7: - - -
SP8: - - - - - - - -
SP9: -
SP10:
SP11:
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: -
SP21:
SP22:

Relevant External Links for LMBR1L Gene

GeneLoc Exon Structure for
LMBR1L

Expression for LMBR1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMBR1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)
  • Thymus (Hematopoietic System)

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMBR1L

SOURCE GeneReport for Unigene cluster for LMBR1L Gene:

Hs.272838

mRNA Expression by UniProt/SwissProt for LMBR1L Gene:

Q6UX01-LMBRL_HUMAN
Tissue specificity: Expressed in testis, pituitary gland, adrenal gland, trachea, placenta, thymus, cerebellum, stomach, mammary gland, spinal cord. A weaker expression is detected in colon, pancreas, and prostate.

Evidence on tissue expression from TISSUES for LMBR1L Gene

  • Nervous system(4.9)
  • Kidney(4.3)
  • Skin(2.3)
  • Spleen(2)
genes like me logo Genes that share expression patterns with LMBR1L: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LMBR1L Gene

Orthologs for LMBR1L Gene

This gene was present in the common ancestor of animals.

Orthologs for LMBR1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LMBR1L 30 31
  • 98.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LMBR1L 30 31
  • 93.05 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LMBR1L 30 31
  • 91.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LMBR1L 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Lmbr1l 30 17 31
  • 89.71 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LMBR1L 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LMBR1L 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LMBR1L 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lmbr1l 30
  • 69.94 (n)
Str.6325 30
African clawed frog
(Xenopus laevis)
Amphibia limr-pending-prov 30
Zebrafish
(Danio rerio)
Actinopterygii lmbr1l 30 31
  • 68.29 (n)
OneToOne
sbcb582 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006880 30
  • 56.01 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5807 30 31
  • 55.48 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea R05D3.2 30 31
  • 45.27 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5928 31
  • 33 (a)
OneToMany
Species where no ortholog for LMBR1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LMBR1L Gene

ENSEMBL:
Gene Tree for LMBR1L (if available)
TreeFam:
Gene Tree for LMBR1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMBR1L: view image

Paralogs for LMBR1L Gene

Paralogs for LMBR1L Gene

(3) SIMAP similar genes for LMBR1L Gene using alignment to 13 proteins:

  • LMBRL_HUMAN
  • E7ESX7_HUMAN
  • F8VPB1_HUMAN
  • F8VVE2_HUMAN
  • F8VYZ9_HUMAN
  • F8VZU8_HUMAN
  • F8W054_HUMAN
  • F8W0N6_HUMAN
  • F8WE63_HUMAN
  • H0YHY8_HUMAN
  • H0YHZ2_HUMAN
  • H0YI83_HUMAN
  • H0YIX2_HUMAN
genes like me logo Genes that share paralogs with LMBR1L: view

Variants for LMBR1L Gene

Additional dbSNP identifiers (rs#s) for LMBR1L Gene

Structural Variations from Database of Genomic Variants (DGV) for LMBR1L Gene

Variant ID Type Subtype PubMed ID
esv3629447 CNV loss 21293372

Variation tolerance for LMBR1L Gene

Residual Variation Intolerance Score: 44.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMBR1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMBR1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LMBR1L Gene

Disorders for LMBR1L Gene

MalaCards: The human disease database

(5) MalaCards diseases for LMBR1L Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LMBR1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LMBR1L Gene

Publications for LMBR1L Gene

  1. Molecular cloning of a novel lipocalin-1 interacting human cell membrane receptor using phage display. (PMID: 11287427) Wojnar P … Redl B (The Journal of biological chemistry 2001) 2 3 4 23
  2. Lipocalin-interacting-membrane-receptor (LIMR) mediates cellular internalization of beta-lactoglobulin. (PMID: 17991420) Fluckinger M … Redl B (Biochimica et biophysica acta 2008) 3 4 23
  3. Antisense down-regulation of lipocalin-interacting membrane receptor expression inhibits cellular internalization of lipocalin-1 in human NT2 cells. (PMID: 12591932) Wojnar P … Redl B (The Journal of biological chemistry 2003) 3 4 23
  4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3 4

Products for LMBR1L Gene

Sources for LMBR1L Gene