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Aliases for LMBR1L Gene

Aliases for LMBR1L Gene

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

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 Cblf. An important paralog of this gene is LMBR1.

UniProtKB/Swiss-Prot for LMBR1L Gene

  • Probable LCN1 receptor. May mediate LCN1 endocytosis.

Gene Wiki entry for LMBR1L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMBR1L Gene

Genomics for LMBR1L Gene

Regulatory Elements for LMBR1L Gene

Enhancers for LMBR1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G049212 1.3 Ensembl ENCODE dbSUPER 16.8 -103.4 -103387 3.0 PKNOX1 MXI1 ZSCAN4 RAD21 ZFHX2 ZNF366 ZSCAN5C ZNF600 PRDM10 FOS LMBR1L TUBA1A TUBA1C C1QL4 DHH LOC105369760 OR5BK1P ENSG00000274017 ENSG00000258101
GH12G049090 1.3 Ensembl ENCODE 13 +17.8 17798 4.3 HDGF CREB3L1 ARNT AGO1 ARID4B ZNF766 ZNF143 FOS JUNB REST LMBR1L OR5BK1P DHH LOC105369759
GH12G049160 1 Ensembl ENCODE 16 -50.0 -50039 1.7 CTCF TBP TAL1 CDC5L POLR2A KDM5B BCLAF1 DEK MIXL1 SMAD5 LOC105369760 LMBR1L TUBA1C TUBA1A DHH ENSG00000200309 GC12M049133
GH12G049253 0.6 FANTOM5 11.1 -142.3 -142261 0.1 SIN3A MNT GATA3 CTBP1 KLF9 ZNF600 MAFK PRDM1 LMBR1L DHH ENSG00000258101 ENSG00000274017
GH12G049208 0.4 dbSUPER 10.8 -97.9 -97891 1.4 ZNF664 ZSCAN5C LOC105369760 TUBA1C LMBR1L DHH C1QL4 ENSG00000274017 ENSG00000258101
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LMBR1L on UCSC Golden Path with GeneCards custom track

Promoters for LMBR1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051576 300 1601 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 FOS DEK ZNF263

Genomic Location for LMBR1L Gene

Chromosome:
12
Start:
49,096,551 bp from pter
End:
49,110,900 bp from pter
Size:
14,350 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:
    No Data Available
    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

Protein Domains for LMBR1L Gene

Suggested Antigen Peptide Sequences for LMBR1L Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for LMBR1L Gene

Function for LMBR1L Gene

Molecular function for LMBR1L Gene

UniProtKB/Swiss-Prot Function:
Probable LCN1 receptor. May mediate LCN1 endocytosis.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.

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

Gene Ontology (GO) - Cellular Components for LMBR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LMBR1L: view

Pathways & Interactions for LMBR1L Gene

SuperPathways for LMBR1L Gene

No Data Available

Interacting Proteins for LMBR1L Gene

Gene Ontology (GO) - Biological Process for LMBR1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
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

Unigene Clusters for LMBR1L Gene

Limb region 1 homolog (mouse)-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
LMBR1L

Expression for LMBR1L Gene

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

NURSA nuclear receptor signaling pathways regulating expression of LMBR1L Gene:

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(4.2)
genes like me logo Genes that share expression patterns with LMBR1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 98.5 (n)
cow
(Bos Taurus)
Mammalia LMBR1L 34 35
  • 93.05 (n)
dog
(Canis familiaris)
Mammalia LMBR1L 34 35
  • 91.82 (n)
oppossum
(Monodelphis domestica)
Mammalia LMBR1L 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmbr1l 34 16 35
  • 89.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia LMBR1L 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMBR1L 35
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMBR1L 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmbr1l 34
  • 69.94 (n)
Str.6325 34
African clawed frog
(Xenopus laevis)
Amphibia limr-pending-prov 34
zebrafish
(Danio rerio)
Actinopterygii lmbr1l 34 35
  • 68.29 (n)
sbcb582 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006880 34
  • 56.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5807 34 35
  • 55.48 (n)
worm
(Caenorhabditis elegans)
Secernentea R05D3.2 34 35
  • 45.27 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5928 35
  • 33 (a)
OneToMany
Species where no ortholog for LMBR1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for LMBR1L Gene

Paralogs for LMBR1L Gene

genes like me logo Genes that share paralogs with LMBR1L: view

Variants for LMBR1L Gene

Sequence variations from dbSNP and Humsavar for LMBR1L Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000146181 -- 49,098,649(+) AATCA(A/G)AAAAC intron-variant
rs1000322578 -- 49,111,531(+) CCAAA(A/G)TACTG upstream-variant-2KB, utr-variant-5-prime
rs1000760827 -- 49,097,402(+) AGGCA(C/G)ATTGA nc-transcript-variant, utr-variant-3-prime
rs1000815726 -- 49,109,990(+) TTCTT(C/T)CAAAG intron-variant, upstream-variant-2KB
rs1000866048 -- 49,099,823(+) TGATC(C/T)GCCCG intron-variant

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)

Relevant External Links for LMBR1L Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMBR1L Gene

Disorders for LMBR1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for LMBR1L Gene - From: GeneCards

Disorder Aliases PubMed IDs
cblf
  • methylmalonic aciduria and homocystinuria, cblf type
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for LMBR1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMBR1L
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. (J. Biol. Chem. 2001) 2 3 4 22 64
  2. 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. (J. Biol. Chem. 2003) 3 4 22 64
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3 4 64
  4. Lipocalin-interacting-membrane-receptor (LIMR) mediates cellular internalization of beta-lactoglobulin. (PMID: 17991420) Fluckinger M. … Redl B. (Biochim. Biophys. Acta 2008) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for LMBR1L Gene

Sources for LMBR1L Gene

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