LRRC32
Transforming growth factor beta activator LRRC32
Also known as: D11S833E, GARP, LRC32_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14392
- Gene
- LRRC32
- Ensembl
- ENSG00000137507
- Chromosome
- 11
- Canonical length
- 662 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
662 residues, UniProt reviewed canonical sequence.
>Q14392|LRRC32
1 MRPQILLLLA LLTLGLAAQH QDKVPCKMVD KKVSCQVLGL LQVPSVLPPD TETLDLSGNQ
61 LRSILASPLG FYTALRHLDL STNEISFLQP GAFQALTHLE HLSLAHNRLA MATALSAGGL
121 GPLPRVTSLD LSGNSLYSGL LERLLGEAPS LHTLSLAENS LTRLTRHTFR DMPALEQLDL
181 HSNVLMDIED GAFEGLPRLT HLNLSRNSLT CISDFSLQQL RVLDLSCNSI EAFQTASQPQ
241 AEFQLTWLDL RENKLLHFPD LAALPRLIYL NLSNNLIRLP TGPPQDSKGI HAPSEGWSAL
301 PLSAPSGNAS GRPLSQLLNL DLSYNEIELI PDSFLEHLTS LCFLNLSRNC LRTFEARRLG
361 SLPCLMLLDL SHNALETLEL GARALGSLRT LLLQGNALRD LPPYTFANLA SLQRLNLQGN
421 RVSPCGGPDE PGPSGCVAFS GITSLRSLSL VDNEIELLRA GAFLHTPLTE LDLSSNPGLE
481 VATGALGGLE ASLEVLALQG NGLMVLQVDL PCFICLKRLN LAENRLSHLP AWTQAVSLEV
541 LDLRNNSFSL LPGSAMGGLE TSLRRLYLQG NPLSCCGNGW LAAQLHQGRV DVDATQDLIC
601 RFSSQEEVSL SHVRPEDCEK GGLKNINLII ILTFILVSAI LLTTLAACCC VRRQKFNQQY
661 KALocalizationUniProt · AlphaFold · HPA
Whether an antibody against LRRC32 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 102 nTPM
Expression across tissuesHPA
Tissue
- lung: 102 nTPM
- adipose tissue: 100 nTPM
- blood vessel: 92 nTPM
- breast: 62 nTPM
- kidney: 60 nTPM
- heart muscle: 54 nTPM
Single-cell type
- extravillous trophoblasts: 244 nCPM
- vascular endothelial cells: 174 nCPM
- hepatic stellate cells: 65 nCPM
- vascular smooth muscle cells: 61 nCPM
- pericytes: 50 nCPM
- lymphatic endothelial cells: 27 nCPM
Immune cell
- total PBMC: 4.3 nTPM
- T-reg: 2.2 nTPM
- neutrophil: 0.6 nTPM
- memory B-cell: 0.2 nTPM
- basophil: 0.1 nTPM
- classical monocyte: 0 nTPM
Brain region
- thalamus: 24 nTPM
- midbrain: 21 nTPM
- pons: 19 nTPM
- amygdala: 18 nTPM
- basal ganglia: 18 nTPM
- medulla oblongata: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LRRC32.
Disease | AllUniProt
Conditions LRRC32 is implicated in, by any mechanism.
- Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) MIM:619074
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 159 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cleft palate, proliferative retinopathy, and developmental delay
- Global developmental delay
- Cleft palate
- Vitreoretinopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.92
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.09
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- establishment of protein localization to extracellular region
- negative regulation of activated T cell proliferation
- negative regulation of cytokine production
- negative regulation of transforming growth factor beta receptor signaling pathway
- positive regulation of gene expression
- secondary palate development
- transforming growth factor beta receptor signaling pathway
Molecular functions
- receptor ligand inhibitor activity
- signaling receptor activity
- transforming growth factor beta binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LRRC32 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LRRC32 as an antibody target. Whether an autoantibody or antibody against LRRC32 could matter depends on whether native LRRC32 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LRRC32 is annotated at the cell surface, where native LRRC32 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label LRRC32 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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