LRRC32 leucine rich repeat containing 32 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC32provided by HGNC
Official Full Name: leucine rich repeat containing 32provided by HGNC
Primary source: HGNC:HGNC:4161
See related: Ensembl:ENSG00000137507 MIM:137207; AllianceGenome:HGNC:4161
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GARP; CPPRDD; D11S833E
Summary: This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 24.7), lung (RPKM 19.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (76657524..76670747, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (76588003..76601225, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (76368568..76381791, complement)

Chromosome 11 - NC_000011.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GARP on hepatic stellate cells is essential for the development of liver fibrosis.
Title: GARP on hepatic stellate cells is essential for the development of liver fibrosis.
Suppression of lysosome metabolism-meditated GARP/TGF-beta1 complexes specifically depletes regulatory T cells to inhibit breast cancer metastasis.
Title: Suppression of lysosome metabolism-meditated GARP/TGF-β1 complexes specifically depletes regulatory T cells to inhibit breast cancer metastasis.
Analysis of LAP[+] and GARP[+] Treg subsets in peripheral blood of patients with neuromyelitis optica spectrum disorders.
Title: Analysis of LAP(+) and GARP(+) Treg subsets in peripheral blood of patients with neuromyelitis optica spectrum disorders.
New insight into GARP striking role in cancer progression: application for cancer therapy.
Title: New insight into GARP striking role in cancer progression: application for cancer therapy.
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Title: Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Novel anti-GARP antibody DS-1055a augments anti-tumor immunity by depleting highly suppressive GARP+ regulatory T cells.
Title: Novel anti-GARP antibody DS-1055a augments anti-tumor immunity by depleting highly suppressive GARP+ regulatory T cells.
Expression of Leucine-rich Repeat-containing Protein 32 Following Lymphocyte Stimulation in Patients with Non-IgE-mediated Gastrointestinal Food Allergies.
Title: Expression of Leucine-rich Repeat-containing Protein 32 Following Lymphocyte Stimulation in Patients with Non-IgE-mediated Gastrointestinal Food Allergies.
GARP Correlates With Tumor-Infiltrating T-Cells and Predicts the Outcome of Gastric Cancer.
Title: GARP Correlates With Tumor-Infiltrating T-Cells and Predicts the Outcome of Gastric Cancer.
The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.
Title: The Parkinson's Disease Protein LRRK2 Interacts with the GARP Complex to Promote Retrograde Transport to the trans-Golgi Network.
GARP promotes the proliferation and therapeutic resistance of bone sarcoma cancer cells through the activation of TGF-beta.
Title: GARP promotes the proliferation and therapeutic resistance of bone sarcoma cancer cells through the activation of TGF-β.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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

Associated conditions

Description	Tests
Cleft palate, proliferative retinopathy, and developmental delay MedGen: C5436739 OMIM: 619074 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

GARP (e-PCR)
- UniSTS:9499

D11S4584 (e-PCR)
- UniSTS:45596

WI-19833 (e-PCR)
- UniSTS:69917

D11S356 (e-PCR)
- UniSTS:84786

SGC30829 (e-PCR)
- UniSTS:47174

D11S787 (e-PCR)
- UniSTS:148194

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta binding	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in establishment of protein localization to extracellular region	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of protein localization to extracellular region	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of activated T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cytokine production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in secondary palate development	ISS Inferred from Sequence or Structural Similarity more info
involved_in transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transforming growth factor beta activator LRRC32

Names: garpin; glycoprotein A repetitions predominant; leucine-rich repeat-containing protein 32

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_001128922.2 → NP_001122394.1 transforming growth factor beta activator LRRC32 isoform a precursor

See identical proteins and their annotated locations for NP_001122394.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-4 all encode the same isoform (a).

Source sequence(s)

AP001189, BC052210, BC070079, BI010671, DA591993

Consensus CDS

CCDS8245.1

UniProtKB/Swiss-Prot

Q14392, Q86V06

Related

ENSP00000260061.5, ENST00000260061.9

Conserved Domains (5) summary

PLN03150
Location:496 → 654

PLN03150; hypothetical protein; Provisional

cd00116
Location:19 → 277

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:563 → 575

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:51 → 74

LRR_RI; leucine-rich repeat [structural motif]

cd21340
Location:198 → 423

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001370187.1 → NP_001357116.1 transforming growth factor beta activator LRRC32 isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3), as well as variants 1, 2, and 4, encodes isoform a.

Source sequence(s)

AP001189, KF455417

Consensus CDS

CCDS8245.1

UniProtKB/Swiss-Prot

Q14392, Q86V06

Related

ENSP00000385766.1, ENST00000404995.5

Conserved Domains (5) summary

PLN03150
Location:496 → 654

PLN03150; hypothetical protein; Provisional

cd00116
Location:19 → 277

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:563 → 575

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:51 → 74

LRR_RI; leucine-rich repeat [structural motif]

cd21340
Location:198 → 423

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001370188.1 → NP_001357117.1 transforming growth factor beta activator LRRC32 isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 1, 2, and 3, encodes isoform a.

Source sequence(s)

AP001189, KF455417

Consensus CDS

CCDS8245.1

UniProtKB/Swiss-Prot

Q14392, Q86V06

Conserved Domains (5) summary

PLN03150
Location:496 → 654

PLN03150; hypothetical protein; Provisional

cd00116
Location:19 → 277

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:563 → 575

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:51 → 74

LRR_RI; leucine-rich repeat [structural motif]

cd21340
Location:198 → 423

PPP1R42; protein phosphatase 1 regulatory subunit 42
NM_001370189.1 → NP_001357118.1 transforming growth factor beta activator LRRC32 isoform b

Status: REVIEWED

Source sequence(s)

AP001189, KF455417

Conserved Domains (5) summary

PLN03150
Location:474 → 632

PLN03150; hypothetical protein; Provisional

PLN00113
Location:27 → 552

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

sd00031
Location:541 → 553

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:29 → 52

LRR_RI; leucine-rich repeat [structural motif]

cl29113
Location:7 → 255

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_001370190.1 → NP_001357119.1 transforming growth factor beta activator LRRC32 isoform c

Status: REVIEWED

Source sequence(s)

AP001189, KF455417

Conserved Domains (4) summary

PLN03150
Location:386 → 544

PLN03150; hypothetical protein; Provisional

PLN00113
Location:15 → 464

PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional

sd00033
Location:41 → 64

LRR_RI; leucine-rich repeat [structural motif]

cl29113
Location:1 → 167

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
NM_001370191.1 → NP_001357120.1 transforming growth factor beta activator LRRC32 isoform d precursor

Status: REVIEWED

Source sequence(s)

AP001189
NM_005512.3 → NP_005503.1 transforming growth factor beta activator LRRC32 isoform a precursor

See identical proteins and their annotated locations for NP_005503.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-4 all encode the same isoform (a).

Source sequence(s)

AK314971, AP001189, BC052210, BC070079, BI010671, DA591993

Consensus CDS

CCDS8245.1

UniProtKB/Swiss-Prot

Q14392, Q86V06

Related

ENSP00000384126.2, ENST00000407242.6

Conserved Domains (5) summary

PLN03150
Location:496 → 654

PLN03150; hypothetical protein; Provisional

cd00116
Location:19 → 277

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:563 → 575

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:51 → 74

LRR_RI; leucine-rich repeat [structural motif]

cd21340
Location:198 → 423

PPP1R42; protein phosphatase 1 regulatory subunit 42

RNA

NR_163259.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AP001189, KF455417

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

76657524..76670747 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426743.1 → XP_047282699.1 transforming growth factor beta activator LRRC32 isoform X2
XM_011544935.4 → XP_011543237.1 transforming growth factor beta activator LRRC32 isoform X1

See identical proteins and their annotated locations for XP_011543237.1

UniProtKB/Swiss-Prot

Q14392, Q86V06

Conserved Domains (5) summary

PLN03150
Location:496 → 654

PLN03150; hypothetical protein; Provisional

cd00116
Location:19 → 277

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00031
Location:563 → 575

LRR_1; leucine-rich repeat [structural motif]

sd00033
Location:51 → 74

LRR_RI; leucine-rich repeat [structural motif]

cd21340
Location:198 → 423

PPP1R42; protein phosphatase 1 regulatory subunit 42

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

76588003..76601225 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054368381.1 → XP_054224356.1 transforming growth factor beta activator LRRC32 isoform X2
XM_054368380.1 → XP_054224355.1 transforming growth factor beta activator LRRC32 isoform X1

UniProtKB/Swiss-Prot

Q14392, Q86V06