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

Summary

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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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).
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103359 (e-PCR)
- UniSTS:97689

Lmbr1l (e-PCR), detects polymorphism
- UniSTS:496030

RH93826 (e-PCR)
- UniSTS:89770

MARC_14539-14540:1008957287:5 (e-PCR)
- UniSTS:267699

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)

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
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
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
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
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
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
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
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
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
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
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