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

Gene ID: 55716, updated on 11-Apr-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. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 15.2), endometrium (RPKM 7.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
12q13.12
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49097139..49110847, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49059322..49073030, complement)
105.20220307 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
  • 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. Tear lipocalin: structure and function. Dartt DA. Ocul Surf, 2011 Jul. PMID 21791187, Free PMC Article
  4. Interaction of uteroglobin with lipocalin-1 receptor suppresses cancer cell motility and invasion. Zhang Z, et al. Gene, 2006 Mar 15. PMID 16423471
  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 (23) 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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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_2023_10

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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