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    LMBR1L limb development membrane protein 1 like [ Homo sapiens (human) ]

    Gene ID: 55716, updated on 2-Nov-2024

    Summary

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    Official Symbol
    LMBR1Lprovided by HGNC
    Official Full Name
    limb development membrane protein 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:18268
    See related
    Ensembl:ENSG00000139636 MIM:610007; AllianceGenome:HGNC:18268
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LIMR
    Summary
    Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 15.2), endometrium (RPKM 7.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LMBR1L in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49097139..49110847, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49059322..49073030, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (49490922..49504630, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6305 Neighboring gene RHEB like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6306 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6307 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49485416-49485598 Neighboring gene uncharacterized LOC105369759 Neighboring gene GATA motif-containing MPRA enhancer 293 Neighboring gene desert hedgehog signaling molecule Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49503799-49504338 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49505196-49505376 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521461-49521962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49521963-49522462 Neighboring gene Sharpr-MPRA regulatory region 3992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4425 Neighboring gene TUBA1B antisense RNA 1 Neighboring gene tubulin alpha 1b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Expression, characterization and ligand specificity of lipocalin-1 interacting membrane receptor (LIMR). Hesselink RW, et al. Mol Membr Biol, 2013 Aug-Sep. PMID 23964685
    2. LMBR1L regulates the proliferation and migration of endothelial cells through Norrin/β-catenin signaling. Liu W, et al. J Cell Sci, 2022 Mar 15. PMID 35146515
    3. Interaction of uteroglobin with lipocalin-1 receptor suppresses cancer cell motility and invasion. Zhang Z, et al. Gene, 2006 Mar 15. PMID 16423471
    4. Tear lipocalin: structure and function. Dartt DA. Ocul Surf, 2011 Jul. PMID 21791187, Free PMC Article
    5. LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism. Rutsch F, et al. J Inherit Metab Dis, 2011 Feb. PMID 20446115

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LMBR1L regulates the proliferation and migration of endothelial cells through Norrin/beta-catenin signaling.
      Title: LMBR1L regulates the proliferation and migration of endothelial cells through Norrin/β-catenin signaling.
    2. LMBR1L has an essential function during lymphopoiesis and lymphoid activation, acting as a negative regulator of the Wnt/beta-catenin pathway.
      Title: LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling.
    3. LIMR was shown to be highly specific for Lcn1, binding the lipocalin with low micromolar to high nanomolar affinity
      Title: Expression, characterization and ligand specificity of lipocalin-1 interacting membrane receptor (LIMR).
    4. The receptor to which lipocalin binds is termed tear lipocalin-interacting membrane receptor and it appears to work by endocytosis.
      Title: Tear lipocalin: structure and function.
    5. Human LIMR, known to act as an endocytic receptor for lipocalin-1, also binds bovine BLG and mediates its cellular uptake.
      Title: Lipocalin-interacting-membrane-receptor (LIMR) mediates cellular internalization of beta-lactoglobulin.
    6. LIMR mediating internalization of lipocalin-1 (Lcn-1) in NT2 cells, leading to its degradation.
      Title: Antisense down-regulation of lipocalin-interacting membrane receptor expression inhibits cellular internalization of lipocalin-1 in human NT2 cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10494, FLJ36251, KIAA1174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in T cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of canonical Wnt signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in receptor-mediated endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in receptor-mediated endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein LMBR1L
    Names
    limb development membrane protein 1 like-protein
    limb region 1 homolog-like
    limb region 1 protein homolog-like
    limb region 1-like protein -like
    lipocalin-1 interacting membrane receptor
    lipocalin-interacting membrane receptor

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001300750.2 → NP_001287679.1  protein LMBR1L isoform 2

      See identical proteins and their annotated locations for NP_001287679.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant represents translation initiation at an alternate AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the alternate AUG to encode an isoform (2) that has a distinct N-terminus, and is shorter, compared to isoform 1.
      Source sequence(s)
      AC011603, AK001356, AK001651, BC015015
      Conserved Domains (1) summary
      pfam04791
      Location:54 → 445
      LMBR1; LMBR1-like membrane protein

    2. NM_001300751.2 → NP_001287680.1  protein LMBR1L isoform 3

      See identical proteins and their annotated locations for NP_001287680.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC011603, AK001651, BC015015
      Consensus CDS
      CCDS73466.1
      UniProtKB/TrEMBL
      A0A0S2Z6E3
      Related
      ENSP00000447329.1, ENST00000547382.5
      Conserved Domains (1) summary
      pfam04791
      Location:21 → 432
      LMBR1; LMBR1-like membrane protein

    3. NM_001352161.2 → NP_001339090.1  protein LMBR1L isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:21 → 459
      LMBR1; LMBR1-like membrane protein

    4. NM_001352162.2 → NP_001339091.1  protein LMBR1L isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:47 → 397
      LMBR1; LMBR1-like membrane protein

    5. NM_001352163.2 → NP_001339092.1  protein LMBR1L isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:1 → 335
      LMBR1; LMBR1-like membrane protein

    6. NM_001352164.2 → NP_001339093.1  protein LMBR1L isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:1 → 268
      LMBR1; LMBR1-like membrane protein

    7. NM_001352165.2 → NP_001339094.1  protein LMBR1L isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variant 9, encodes isoform 8.
      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:1 → 328
      LMBR1; LMBR1-like membrane protein

    8. NM_001352166.2 → NP_001339095.1  protein LMBR1L isoform 8

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 8, encodes isoform 8.
      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:1 → 328
      LMBR1; LMBR1-like membrane protein

    9. NM_001352167.2 → NP_001339096.1  protein LMBR1L isoform 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variant 11, encodes isoform 9.
      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:61 → 247
      LMBR1; LMBR1-like membrane protein

    10. NM_001352168.2 → NP_001339097.1  protein LMBR1L isoform 9

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variant 10, encodes isoform 9.
      Source sequence(s)
      AC011603
      Conserved Domains (1) summary
      pfam04791
      Location:61 → 247
      LMBR1; LMBR1-like membrane protein

    11. NM_018113.4 → NP_060583.2  protein LMBR1L isoform 1

      See identical proteins and their annotated locations for NP_060583.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC011603, AK001651, BC015015
      Consensus CDS
      CCDS8780.2
      UniProtKB/Swiss-Prot
      Q6UX01, Q969J4, Q96BY8, Q96HN8, Q9NT09, Q9NVE1, Q9NVU9, Q9ULP6
      UniProtKB/TrEMBL
      A0A024R0Y9
      Related
      ENSP00000267102.8, ENST00000267102.13
      Conserved Domains (1) summary
      pfam04791
      Location:21 → 455
      LMBR1; LMBR1-like membrane protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      49097139..49110847 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449053.2 → XP_024304821.1  protein LMBR1L isoform X3

      UniProtKB/TrEMBL
      A0A0S2Z5S6
      Conserved Domains (1) summary
      pfam04791
      Location:21 → 395
      LMBR1; LMBR1-like membrane protein

    2. XM_047429140.1 → XP_047285096.1  protein LMBR1L isoform X2

    3. XM_047429142.1 → XP_047285098.1  protein LMBR1L isoform X5

    4. XM_047429139.1 → XP_047285095.1  protein LMBR1L isoform X1

    5. XM_047429143.1 → XP_047285099.1  protein LMBR1L isoform X6

      Related
      ENST00000552577.5

    6. XM_047429141.1 → XP_047285097.1  protein LMBR1L isoform X4

    RNA

    1. XR_245944.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      49059322..49073030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372532.1 → XP_054228507.1  protein LMBR1L isoform X3

    2. XM_054372531.1 → XP_054228506.1  protein LMBR1L isoform X2

    3. XM_054372534.1 → XP_054228509.1  protein LMBR1L isoform X5

    4. XM_054372530.1 → XP_054228505.1  protein LMBR1L isoform X1

    5. XM_054372535.1 → XP_054228510.1  protein LMBR1L isoform X6

    6. XM_054372533.1 → XP_054228508.1  protein LMBR1L isoform X4

    RNA

    1. XR_008488640.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UX01.2 GenPept UniProtKB/Swiss-Prot:Q6UX01

    Gene LinkOut

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