ILDR1
entrez
286676
canonical
uniprot
Q86SU0
canonical
ensembl
ENSG00000145103
resolver
ensp
ENSP00000273691
resolver
ensp
ENSP00000345667
resolver
ensp
ENSP00000377251
resolver
ensp
ENSP00000655012
resolver
ensp
ENSP00000681091
resolver
genesymbol
ILDR1
resolver
hgnc
HGNC:28741
resolver
uniprot
Q6ZP61
resolver
uniprot
Q7Z578
resolver
uniprot_entry
ILDR1_HUMAN
resolver
uniprot_sec
Q6ZP61
resolver
uniprot_sec
Q7Z578
resolver
amino_acid_sequence
MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILKCDYTTSAQLQDVVVTWRFKSFCKDPIFDYYSASYQAALSLGQDPSNDCNDNQREVRIVAQRRGQNEPVLGVDYRQRKITIQNRADLVINEVMWWDHGVYYCTIEAPGDTSGDPDKEVKLIVLHWLTVIFIILGALLLLLLIGVCWCQCCPQYCCCYIRCPCCPAHCCCPEEALARHRYMKQAQALGPQMMGKPLYWGADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTTNQPPIANGVLEYLEKELRNLNLAQPLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPPLIRDLSSSRRTSDSLHQQWLTPIPSRPWDLREGRSHHHYPDFHQELQDRGPKSWALERRELDPSWSGRHRSSRLNGSPIHWSDRDSLSDVPSSSEARWRPSHPPFRSRCQERPRRPSPRESTQRHGRRRRHRSYSPPLPSGLSSWSSEEDKERQPQSWRAHRRGSHSPHWPEEKPPSYRSLDITPGKNSRKKGSVERRSEKDSSHSGRSVVI
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]: A prelingual, non-progressive form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:21255762, ECO:0000269|PubMed:23239027}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Maintains epithelial barrier function by recruiting MARVELD2/tricellulin to tricellular tight junctions (tTJs) (PubMed:23239027). Crucial for normal hearing by maintaining the structural and functional integrity of tTJs, which are critical for the survival of auditory neurosensory HCs. Mediates fatty acids and lipoproteins-stimulated CCK/cholecystokinin secretion in the small intestine. In the inner ear, may regulate alternative pre-mRNA splicing via binding to TRA2A, TRA2B and SRSF1 (By similarity). {ECO:0000250|UniProtKB:Q8CBR1, ECO:0000269|PubMed:23239027}.; FUNCTION: (Microbial infection) Promotes influenza virus infection by inhibiting viral nucleoprotein NP binding to PLSCR1 and thereby PLSCR1-mediated antiviral activity. {ECO:0000269|PubMed:35595813}.
uniprot
proteins
mass_dalton
62815
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
LISCH7 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15381095
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21255762
uniprot
proteins
pubmed
23239027
uniprot
proteins
pubmed
28887846
uniprot
proteins
pubmed
35595813
uniprot
proteins
sequence_length
546
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15381095}; Single-pass type I membrane protein {ECO:0000269|PubMed:15381095}. Cell junction, tight junction {ECO:0000269|PubMed:23239027}. Cytoplasm {ECO:0000269|PubMed:35595813}.; SUBCELLULAR LOCATION: [Isoform 5]: Cytoplasm, cytosol {ECO:0000269|PubMed:15381095}.
uniprot
proteins
transmembrane_region
TRANSMEM 168..188; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins