UniProtKB - Q86SU0 (ILDR1_HUMAN)
Immunoglobulin-like domain-containing receptor 1
ILDR1
Functioni
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).
By similarity1 PublicationGO - Molecular functioni
- high-density lipoprotein particle receptor activity Source: UniProtKB
- identical protein binding Source: UniProtKB
GO - Biological processi
- cellular response to leukemia inhibitory factor Source: Ensembl
- epithelial structure maintenance Source: UniProtKB
- positive regulation of peptide hormone secretion Source: UniProtKB
- protein localization to tricellular tight junction Source: UniProtKB
- regulation of RNA splicing Source: UniProtKB
- response to fatty acid Source: UniProtKB
- tricellular tight junction assembly Source: UniProtKB
Keywordsi
Molecular function | Receptor |
Enzyme and pathway databases
PathwayCommonsi | Q86SU0 |
SignaLinki | Q86SU0 |
Names & Taxonomyi
Protein namesi | Recommended name: Immunoglobulin-like domain-containing receptor 1CuratedAlternative name(s): Angulin-21 Publication |
Gene namesi | Name:ILDR1Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28741, ILDR1 |
MIMi | 609739, gene |
neXtProti | NX_Q86SU0 |
VEuPathDBi | HostDB:ENSG00000145103 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Other locations
- tight junction 1 Publication
Cytoplasm and Cytosol
- cytosol 1 Publication
Cytosol
- cytosol Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: GO_Central
- protein-containing complex Source: UniProtKB
- tight junction Source: UniProtKB
- tricellular tight junction Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 24 – 167 | ExtracellularSequence analysisAdd BLAST | 144 | |
Transmembranei | 168 – 188 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 189 – 546 | CytoplasmicSequence analysisAdd BLAST | 358 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Membrane, Tight junctionPathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 42 (DFNB42)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065352 | 97 | R → Q in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationCorresponds to variant dbSNP:rs771818841Ensembl. | 1 | |
Natural variantiVAR_085556 | 195 – 546 | Missing in DFNB42; loss of interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST | 352 | |
Natural variantiVAR_085557 | 379 – 546 | Missing in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST | 168 | |
Natural variantiVAR_065353 | 453 | R → Q in DFNB42; uncertain pathological significance; no effect on interaction with MARVELD2; no effect on tight junction location. 1 PublicationCorresponds to variant dbSNP:rs372564314Ensembl. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 286676 |
MalaCardsi | ILDR1 |
MIMi | 609646, phenotype |
OpenTargetsi | ENSG00000145103 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134883110 |
Miscellaneous databases
Pharosi | Q86SU0, Tbio |
Genetic variation databases
BioMutai | ILDR1 |
DMDMi | 110279019 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Sequence analysisAdd BLAST | 23 | |
ChainiPRO_0000245304 | 24 – 546 | Immunoglobulin-like domain-containing receptor 1Add BLAST | 523 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 45 ↔ 145 | By similarity | ||
Modified residuei | 499 | PhosphoserineBy similarity | 1 | |
Modified residuei | 501 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, PhosphoproteinProteomic databases
jPOSTi | Q86SU0 |
MassIVEi | Q86SU0 |
PaxDbi | Q86SU0 |
PeptideAtlasi | Q86SU0 |
PRIDEi | Q86SU0 |
ProteomicsDBi | 69633 [Q86SU0-1] 69634 [Q86SU0-2] 69635 [Q86SU0-3] 69636 [Q86SU0-4] 69637 [Q86SU0-5] 69638 [Q86SU0-6] |
PTM databases
iPTMneti | Q86SU0 |
PhosphoSitePlusi | Q86SU0 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000145103, Expressed in caput epididymis and 113 other tissues |
Genevisiblei | Q86SU0, HS |
Organism-specific databases
HPAi | ENSG00000145103, Tissue enhanced (parathyroid) |
Interactioni
Subunit structurei
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 130413, 10 interactors |
IntActi | Q86SU0, 5 interactors |
STRINGi | 9606.ENSP00000345667 |
Miscellaneous databases
RNActi | Q86SU0, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q86SU0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 24 – 162 | Ig-like V-typeAdd BLAST | 139 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 399 – 546 | DisorderedSequence analysisAdd BLAST | 148 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 402 – 429 | Polar residuesSequence analysisAdd BLAST | 28 | |
Compositional biasi | 435 – 454 | Basic and acidic residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 480 – 510 | Basic and acidic residuesSequence analysisAdd BLAST | 31 | |
Compositional biasi | 519 – 539 | Basic and acidic residuesSequence analysisAdd BLAST | 21 |
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QS11, Eukaryota |
GeneTreei | ENSGT00950000183058 |
HOGENOMi | CLU_037131_1_0_1 |
InParanoidi | Q86SU0 |
OMAi | REYEHHA |
OrthoDBi | 860055at2759 |
PhylomeDBi | Q86SU0 |
TreeFami | TF330877 |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR003599, Ig_sub IPR008664, LISCH7 |
Pfami | View protein in Pfam PF05624, LSR, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit |
s (6)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAWPKLPAPW LLLCTWLPAG CLSLLVTVQH TERYVTLFAS IILKCDYTTS
60 70 80 90 100
AQLQDVVVTW RFKSFCKDPI FDYYSASYQA ALSLGQDPSN DCNDNQREVR
110 120 130 140 150
IVAQRRGQNE PVLGVDYRQR KITIQNRADL VINEVMWWDH GVYYCTIEAP
160 170 180 190 200
GDTSGDPDKE VKLIVLHWLT VIFIILGALL LLLLIGVCWC QCCPQYCCCY
210 220 230 240 250
IRCPCCPAHC CCPEEALARH RYMKQAQALG PQMMGKPLYW GADRSSQVSS
260 270 280 290 300
YPMHPLLQRD LSLPSSLPQM PMTQTTNQPP IANGVLEYLE KELRNLNLAQ
310 320 330 340 350
PLPPDLKGRF GHPCSMLSSL GSEVVERRII HLPPLIRDLS SSRRTSDSLH
360 370 380 390 400
QQWLTPIPSR PWDLREGRSH HHYPDFHQEL QDRGPKSWAL ERRELDPSWS
410 420 430 440 450
GRHRSSRLNG SPIHWSDRDS LSDVPSSSEA RWRPSHPPFR SRCQERPRRP
460 470 480 490 500
SPRESTQRHG RRRRHRSYSP PLPSGLSSWS SEEDKERQPQ SWRAHRRGSH
510 520 530 540
SPHWPEEKPP SYRSLDITPG KNSRKKGSVE RRSEKDSSHS GRSVVI
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065352 | 97 | R → Q in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationCorresponds to variant dbSNP:rs771818841Ensembl. | 1 | |
Natural variantiVAR_085556 | 195 – 546 | Missing in DFNB42; loss of interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST | 352 | |
Natural variantiVAR_079750 | 357 | I → V1 PublicationCorresponds to variant dbSNP:rs1448131970Ensembl. | 1 | |
Natural variantiVAR_085557 | 379 – 546 | Missing in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST | 168 | |
Natural variantiVAR_065353 | 453 | R → Q in DFNB42; uncertain pathological significance; no effect on interaction with MARVELD2; no effect on tight junction location. 1 PublicationCorresponds to variant dbSNP:rs372564314Ensembl. | 1 | |
Natural variantiVAR_065354 | 463 | R → C1 PublicationCorresponds to variant dbSNP:rs778163752Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019679 | 1 – 19 | MAWPK…TWLPA → MAGNIFCPFALFFLPMSRVG HLQHFLLLLAL in isoform 6. 1 PublicationAdd BLAST | 19 | |
Alternative sequenceiVSP_019680 | 92 – 209 | Missing in isoform 4. 1 PublicationAdd BLAST | 118 | |
Alternative sequenceiVSP_019681 | 127 | R → P in isoform 5. 1 Publication | 1 | |
Alternative sequenceiVSP_019682 | 128 – 216 | Missing in isoform 5. 1 PublicationAdd BLAST | 89 | |
Alternative sequenceiVSP_019683 | 216 – 259 | Missing in isoform 2 and isoform 6. 2 PublicationsAdd BLAST | 44 | |
Alternative sequenceiVSP_019684 | 260 – 265 | DLSLPS → ASRRCQ in isoform 3. 1 Publication | 6 | |
Alternative sequenceiVSP_019685 | 266 – 546 | Missing in isoform 3. 1 PublicationAdd BLAST | 281 | |
Alternative sequenceiVSP_019686 | 324 – 329 | VVERRI → NQIEEF in isoform 4. 1 Publication | 6 | |
Alternative sequenceiVSP_019687 | 330 – 546 | Missing in isoform 4. 1 PublicationAdd BLAST | 217 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY672837 mRNA No translation available. AY672838 mRNA No translation available. AY672839 mRNA No translation available. AY134857 mRNA Translation: AAN10256.1 AK129974 mRNA Translation: BAC85264.1 BC044240 mRNA Translation: AAH44240.1 |
CCDSi | CCDS3008.1 [Q86SU0-2] CCDS56270.1 [Q86SU0-5] CCDS56271.1 [Q86SU0-1] |
RefSeqi | NP_001186728.1, NM_001199799.1 [Q86SU0-1] NP_001186729.1, NM_001199800.1 [Q86SU0-5] NP_787120.1, NM_175924.3 [Q86SU0-2] XP_005247446.1, XM_005247389.4 [Q86SU0-6] |
Genome annotation databases
Ensembli | ENST00000273691.7; ENSP00000273691.3; ENSG00000145103.15 [Q86SU0-2] ENST00000344209.10; ENSP00000345667.5; ENSG00000145103.15 ENST00000393631.5; ENSP00000377251.1; ENSG00000145103.15 [Q86SU0-5] ENST00000642615.1; ENSP00000495499.1; ENSG00000145103.15 [Q86SU0-3] |
GeneIDi | 286676 |
KEGGi | hsa:286676 |
MANE-Selecti | ENST00000344209.10; ENSP00000345667.5; NM_001199799.2; NP_001186728.1 |
UCSCi | uc003eeq.4, human [Q86SU0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY672837 mRNA No translation available. AY672838 mRNA No translation available. AY672839 mRNA No translation available. AY134857 mRNA Translation: AAN10256.1 AK129974 mRNA Translation: BAC85264.1 BC044240 mRNA Translation: AAH44240.1 |
CCDSi | CCDS3008.1 [Q86SU0-2] CCDS56270.1 [Q86SU0-5] CCDS56271.1 [Q86SU0-1] |
RefSeqi | NP_001186728.1, NM_001199799.1 [Q86SU0-1] NP_001186729.1, NM_001199800.1 [Q86SU0-5] NP_787120.1, NM_175924.3 [Q86SU0-2] XP_005247446.1, XM_005247389.4 [Q86SU0-6] |
3D structure databases
AlphaFoldDBi | Q86SU0 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 130413, 10 interactors |
IntActi | Q86SU0, 5 interactors |
STRINGi | 9606.ENSP00000345667 |
PTM databases
iPTMneti | Q86SU0 |
PhosphoSitePlusi | Q86SU0 |
Genetic variation databases
BioMutai | ILDR1 |
DMDMi | 110279019 |
Proteomic databases
jPOSTi | Q86SU0 |
MassIVEi | Q86SU0 |
PaxDbi | Q86SU0 |
PeptideAtlasi | Q86SU0 |
PRIDEi | Q86SU0 |
ProteomicsDBi | 69633 [Q86SU0-1] 69634 [Q86SU0-2] 69635 [Q86SU0-3] 69636 [Q86SU0-4] 69637 [Q86SU0-5] 69638 [Q86SU0-6] |
Protocols and materials databases
Antibodypediai | 3021, 72 antibodies from 14 providers |
DNASUi | 286676 |
Genome annotation databases
Ensembli | ENST00000273691.7; ENSP00000273691.3; ENSG00000145103.15 [Q86SU0-2] ENST00000344209.10; ENSP00000345667.5; ENSG00000145103.15 ENST00000393631.5; ENSP00000377251.1; ENSG00000145103.15 [Q86SU0-5] ENST00000642615.1; ENSP00000495499.1; ENSG00000145103.15 [Q86SU0-3] |
GeneIDi | 286676 |
KEGGi | hsa:286676 |
MANE-Selecti | ENST00000344209.10; ENSP00000345667.5; NM_001199799.2; NP_001186728.1 |
UCSCi | uc003eeq.4, human [Q86SU0-1] |
Organism-specific databases
CTDi | 286676 |
DisGeNETi | 286676 |
GeneCardsi | ILDR1 |
HGNCi | HGNC:28741, ILDR1 |
HPAi | ENSG00000145103, Tissue enhanced (parathyroid) |
MalaCardsi | ILDR1 |
MIMi | 609646, phenotype 609739, gene |
neXtProti | NX_Q86SU0 |
OpenTargetsi | ENSG00000145103 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134883110 |
VEuPathDBi | HostDB:ENSG00000145103 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QS11, Eukaryota |
GeneTreei | ENSGT00950000183058 |
HOGENOMi | CLU_037131_1_0_1 |
InParanoidi | Q86SU0 |
OMAi | REYEHHA |
OrthoDBi | 860055at2759 |
PhylomeDBi | Q86SU0 |
TreeFami | TF330877 |
Enzyme and pathway databases
PathwayCommonsi | Q86SU0 |
SignaLinki | Q86SU0 |
Miscellaneous databases
BioGRID-ORCSi | 286676, 16 hits in 1064 CRISPR screens |
GenomeRNAii | 286676 |
Pharosi | Q86SU0, Tbio |
PROi | PR:Q86SU0 |
RNActi | Q86SU0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000145103, Expressed in caput epididymis and 113 other tissues |
Genevisiblei | Q86SU0, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 1 hit |
InterProi | View protein in InterPro IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR003599, Ig_sub IPR008664, LISCH7 |
Pfami | View protein in Pfam PF05624, LSR, 1 hit |
SMARTi | View protein in SMART SM00409, IG, 1 hit |
SUPFAMi | SSF48726, SSF48726, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ILDR1_HUMAN | |
Accessioni | Q86SU0Primary (citable) accession number: Q86SU0 Secondary accession number(s): Q6ZP61, Q7Z578 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2006 |
Last sequence update: | July 11, 2006 | |
Last modified: | May 25, 2022 | |
This is version 156 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families