NRROS
entrez
375387
canonical
uniprot
Q86YC3
canonical
ensembl
ENSG00000174004
resolver
ensp
ENSP00000328625
resolver
ensp
ENSP00000578042
resolver
enst
ENST00000328557
resolver
enst
ENST00000907983
resolver
genesymbol
NRROS
resolver
genesymbol_syn
LRRC33
resolver
hgnc
HGNC:24613
resolver
uniprot_entry
LRC33_HUMAN
resolver
amino_acid_sequence
MELLPLWLCLGFHFLTVGWRNRSGTATAASQGVCKLVGGAADCRGQSLASVPSSLPPHARMLTLDANPLKTLWNHSLQPYPLLESLSLHSCHLERISRGAFQEQGHLRSLVLGDNCLSENYEETAAALHALPGLRRLDLSGNALTEDMAALMLQNLSSLRSVSLAGNTIMRLDDSVFEGLERLRELDLQRNYIFEIEGGAFDGLAELRHLNLAFNNLPCIVDFGLTRLRVLNVSYNVLEWFLATGGEAAFELETLDLSHNQLLFFPLLPQYSKLRTLLLRDNNMGFYRDLYNTSSPREMVAQFLLVDGNVTNITTVSLWEEFSSSDLADLRFLDMSQNQFQYLPDGFLRKMPSLSHLNLHQNCLMTLHIREHEPPGALTELDLSHNQLSELHLAPGLASCLGSLRLFNLSSNQLLGVPPGLFANARNITTLDMSHNQISLCPLPAASDRVGPPSCVDFRNMASLRSLSLEGCGLGALPDCPFQGTSLTYLDLSSNWGVLNGSLAPLQDVAPMLQVLSLRNMGLHSSFMALDFSGFGNLRDLDLSGNCLTTFPRFGGSLALETLDLRRNSLTALPQKAVSEQLSRGLRTIYLSQNPYDCCGVDGWGALQHGQTVADWAMVTCNLSSKIIRVTELPGGVPRDCKWERLDLGLLYLVLILPSCLTLLVACTVIVLTFKKPLLQVIKSRCHWSSVY
uniprot
proteins
disease_involvement
DISEASE: Seizures, early-onset, with neurodegeneration and brain calcification (SENEBAC) [MIM:618875]: An autosomal recessive neurodegenerative disorder clinically characterized by refractory seizures apparent in the first year of life, mild early developmental delay, and developmental regression after seizure onset. Other features include hypotonia, hyperreflexia, peripheral spasticity, poor eye contact, absent speech, poor head control, and inability to walk. Brain imaging shows reduced white matter volume with delayed myelination, and punctate calcifications. {ECO:0000269|PubMed:32100099, ECO:0000269|PubMed:32197075}. Note=The protein represented in this entry is involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF-beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated from one microglial cell to neighboring microglia, suggesting the existence of localized and selective activation of TGF-beta-1 by LRRC33/NRROS (By similarity). Indirectly plays a role in Toll-like receptor (TLR) signaling: ability to inhibit TLR-mediated NF-kappa-B activation and cytokine production is probably a consequence of its role in TGF-beta-1 signaling (PubMed:23545260). {ECO:0000250|UniProtKB:Q8BMT4, ECO:0000269|PubMed:23545260}.
uniprot
proteins
mass_dalton
76366
uniprot
proteins
protein_family
LRRC32/LRRC33 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
23545260
uniprot
proteins
pubmed
29909984
uniprot
proteins
pubmed
32100099
uniprot
proteins
pubmed
32197075
uniprot
proteins
sequence_length
692
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23545260, ECO:0000269|PubMed:29909984}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:32197075}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 651..671; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins