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

Gene ID: 2615, updated on 19-Jun-2021

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
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
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Genomic context

See LRRC32 in Genome Data Viewer
Location:
11q13.5
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (76657524..76670747, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76368568..76381791, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9860 Neighboring gene EMSY transcriptional repressor, BRCA2 interacting Neighboring gene long intergenic non-protein coding RNA 2757 Neighboring gene Sharpr-MPRA regulatory region 5087 Neighboring gene uncharacterized LOC107984360 Neighboring gene guanylate cyclase 2E, pseudogene Neighboring gene uncharacterized LOC105369397

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.
GeneReviews: Not available
A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
GeneReviews: Not available
Cleft palate, proliferative retinopathy, and developmental delay
MedGen: C5436739 OMIM: 619074 GeneReviews: Not available
not available
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
GeneReviews: Not available
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
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
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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)

  1. NM_001128922.2NP_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
    UniProtKB/TrEMBL
    A0A024R5J7
    Related
    ENSP00000260061.5, ENST00000260061.9
    Conserved Domains (5) summary
    PLN03150
    Location:496654
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:49574
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    cd00116
    Location:19277
    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:563575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:5174
    LRR_RI; leucine-rich repeat [structural motif]
  2. NM_001370187.1NP_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
    Related
    ENSP00000385766.1, ENST00000404995.5
    Conserved Domains (5) summary
    PLN03150
    Location:496654
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:49574
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    cd00116
    Location:19277
    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:563575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:5174
    LRR_RI; leucine-rich repeat [structural motif]
  3. NM_001370188.1NP_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
    Conserved Domains (5) summary
    PLN03150
    Location:496654
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:49574
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    cd00116
    Location:19277
    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:563575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:5174
    LRR_RI; leucine-rich repeat [structural motif]
  4. NM_001370189.1NP_001357118.1  transforming growth factor beta activator LRRC32 isoform b

    Status: REVIEWED

    Source sequence(s)
    AP001189, KF455417
    Conserved Domains (5) summary
    PLN03150
    Location:474632
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:27552
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00031
    Location:541553
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:2952
    LRR_RI; leucine-rich repeat [structural motif]
    cl29113
    Location:7255
    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 ...
  5. NM_001370190.1NP_001357119.1  transforming growth factor beta activator LRRC32 isoform c

    Status: REVIEWED

    Source sequence(s)
    AP001189, KF455417
    Conserved Domains (4) summary
    PLN03150
    Location:386544
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:15464
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    sd00033
    Location:4164
    LRR_RI; leucine-rich repeat [structural motif]
    cl29113
    Location:1167
    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 ...
  6. NM_001370191.1NP_001357120.1  transforming growth factor beta activator LRRC32 isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AP001189
  7. NM_005512.3NP_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
    UniProtKB/TrEMBL
    A0A024R5J7
    Related
    ENSP00000384126.2, ENST00000407242.6
    Conserved Domains (5) summary
    PLN03150
    Location:496654
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:49574
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    cd00116
    Location:19277
    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:563575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:5174
    LRR_RI; leucine-rich repeat [structural motif]

RNA

  1. NR_163259.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AP001189, KF455417

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    76657524..76670747 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544935.3XP_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
    UniProtKB/TrEMBL
    A0A024R5J7
    Conserved Domains (5) summary
    PLN03150
    Location:496654
    PLN03150; hypothetical protein; Provisional
    PLN00113
    Location:49574
    PLN00113; leucine-rich repeat receptor-like protein kinase; Provisional
    cd00116
    Location:19277
    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:563575
    LRR_1; leucine-rich repeat [structural motif]
    sd00033
    Location:5174
    LRR_RI; leucine-rich repeat [structural motif]
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