LRRC32
entrez
2615
canonical
uniprot
Q14392
canonical
ensembl
ENSG00000137507
resolver
ensp
ENSP00000260061
resolver
ensp
ENSP00000384126
resolver
ensp
ENSP00000385766
resolver
ensp
ENSP00000528084
resolver
ensp
ENSP00000627968
resolver
ensp
ENSP00000627969
resolver
ensp
ENSP00000627970
resolver
ensp
ENSP00000627971
resolver
ensp
ENSP00000644641
resolver
enst
ENST00000260061
resolver
enst
ENST00000404995
resolver
enst
ENST00000407242
resolver
enst
ENST00000858025
resolver
enst
ENST00000957909
resolver
enst
ENST00000957910
resolver
enst
ENST00000957911
resolver
enst
ENST00000957912
resolver
genesymbol
LRRC32
resolver
genesymbol_syn
D11S833E
resolver
hgnc
HGNC:4161
resolver
uniprot
Q86V06
resolver
uniprot_entry
LRC32_HUMAN
resolver
uniprot_sec
Q86V06
resolver
amino_acid_sequence
MRPQILLLLALLTLGLAAQHQDKVPCKMVDKKVSCQVLGLLQVPSVLPPDTETLDLSGNQLRSILASPLGFYTALRHLDLSTNEISFLQPGAFQALTHLEHLSLAHNRLAMATALSAGGLGPLPRVTSLDLSGNSLYSGLLERLLGEAPSLHTLSLAENSLTRLTRHTFRDMPALEQLDLHSNVLMDIEDGAFEGLPRLTHLNLSRNSLTCISDFSLQQLRVLDLSCNSIEAFQTASQPQAEFQLTWLDLRENKLLHFPDLAALPRLIYLNLSNNLIRLPTGPPQDSKGIHAPSEGWSALPLSAPSGNASGRPLSQLLNLDLSYNEIELIPDSFLEHLTSLCFLNLSRNCLRTFEARRLGSLPCLMLLDLSHNALETLELGARALGSLRTLLLQGNALRDLPPYTFANLASLQRLNLQGNRVSPCGGPDEPGPSGCVAFSGITSLRSLSLVDNEIELLRAGAFLHTPLTELDLSSNPGLEVATGALGGLEASLEVLALQGNGLMVLQVDLPCFICLKRLNLAENRLSHLPAWTQAVSLEVLDLRNNSFSLLPGSAMGGLETSLRRLYLQGNPLSCCGNGWLAAQLHQGRVDVDATQDLICRFSSQEEVSLSHVRPEDCEKGGLKNINLIIILTFILVSAILLTTLAACCCVRRQKFNQQYKA
uniprot
proteins
disease_involvement
DISEASE: Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) [MIM:619074]: An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation. {ECO:0000269|PubMed:30976112}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:19651619, PubMed:19750484, PubMed:22278742). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:22278742). Able to outcompete LTBP1 for binding to LAP regulatory chain of TGF-beta (PubMed:22278742). Controls activation of TGF-beta-1 (TGFB1) on the surface of activated regulatory T-cells (Tregs) (PubMed:19651619, PubMed:19750484). Required for epithelial fusion during palate development by regulating activation of TGF-beta-3 (TGFB3) (By similarity). {ECO:0000250|UniProtKB:G3XA59, ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484, ECO:0000269|PubMed:22278742}.
uniprot
proteins
mass_dalton
71979
uniprot
proteins
mutagenesis
MUTAGEN 211; /note="C->A: Abolishes interaction with Latency-associated peptide (LAP) of TGFB1; when associated with A-350."; /evidence="ECO:0000269|PubMed:22278742"; MUTAGEN 350; /note="C->A: Abolishes interaction with Latency-associated peptide (LAP) of TGFB1; when associated with A-211."; /evidence="ECO:0000269|PubMed:22278742"; MUTAGEN 436; /note="C->A: Abolishes Cell surface localization without affecting interaction with Latency-associated peptide (LAP) of TGFB1."; /evidence="ECO:0000269|PubMed:22278742
uniprot
proteins
protein_family
LRRC32/LRRC33 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18628982
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19651619
uniprot
proteins
pubmed
19750484
uniprot
proteins
pubmed
21615933
uniprot
proteins
pubmed
22278742
uniprot
proteins
pubmed
26126825
uniprot
proteins
pubmed
30976112
uniprot
proteins
pubmed
8180135
uniprot
proteins
sequence_length
662
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484}; Single-pass type I membrane protein {ECO:0000255}. Cell surface {ECO:0000269|PubMed:19651619, ECO:0000269|PubMed:19750484}.
uniprot
proteins
transmembrane_region
TRANSMEM 628..648; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins