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UniProtKB - Q86SU0 (ILDR1_HUMAN)

Entry version 156 (25 May 2022)
Sequence version 2 (11 Jul 2006)
Previous versions | rss
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Protein

Immunoglobulin-like domain-containing receptor 1

Gene

ILDR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionReceptor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86SU0

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q86SU0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Immunoglobulin-like domain-containing receptor 1Curated
Alternative name(s):
Angulin-21 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ILDR1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:28741, ILDR1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609739, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86SU0

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000145103

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini24 – 167ExtracellularSequence analysisAdd BLAST144
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Topological domaini189 – 546CytoplasmicSequence analysisAdd BLAST358

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Tight junction

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 42 (DFNB42)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06535297R → Q in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationCorresponds to variant dbSNP:rs771818841Ensembl.1
Natural variantiVAR_085556195 – 546Missing in DFNB42; loss of interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST352
Natural variantiVAR_085557379 – 546Missing in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST168
Natural variantiVAR_065353453R → 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 deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		286676

MalaCards human disease database

More...MalaCardsi		ILDR1
MIMi609646, phenotype

Open Targets

More...OpenTargetsi		ENSG00000145103

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134883110

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86SU0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ILDR1

Domain mapping of disease mutations (DMDM)

More...DMDMi		110279019

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Sequence analysisAdd BLAST23
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000024530424 – 546Immunoglobulin-like domain-containing receptor 1Add BLAST523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi45 ↔ 145By similarity
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei499PhosphoserineBy similarity1
Modified residuei501PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86SU0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86SU0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q86SU0

PeptideAtlas

More...PeptideAtlasi		Q86SU0

PRoteomics IDEntifications database

More...PRIDEi		Q86SU0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		69633 [Q86SU0-1]
69634 [Q86SU0-2]
69635 [Q86SU0-3]
69636 [Q86SU0-4]
69637 [Q86SU0-5]
69638 [Q86SU0-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86SU0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q86SU0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000145103, Expressed in caput epididymis and 113 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86SU0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000145103, Tissue enhanced (parathyroid)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homooligomer (PubMed:15381095).

Interacts with MARVELD2 and OCLN; the interaction is required to recruit MARVELD2 to tricellular contacts (PubMed:23239027).

Interacts (via C-terminus) with TRA2A, TRA2B and SRSF1 (By similarity).

By similarity2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		130413, 10 interactors

Protein interaction database and analysis system

More...IntActi		Q86SU0, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000345667

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86SU0, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q86SU0

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini24 – 162Ig-like V-typeAdd BLAST139

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni399 – 546DisorderedSequence analysisAdd BLAST148

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi402 – 429Polar residuesSequence analysisAdd BLAST28
Compositional biasi435 – 454Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi480 – 510Basic and acidic residuesSequence analysisAdd BLAST31
Compositional biasi519 – 539Basic and acidic residuesSequence analysisAdd BLAST21

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the immunoglobulin superfamily. LISCH7 family.Curated

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QS11, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183058

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_037131_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86SU0

Identification of Orthologs from Complete Genome Data

More...OMAi		REYEHHA

Database of Orthologous Groups

More...OrthoDBi		860055at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86SU0

TreeFam database of animal gene trees

More...TreeFami		TF330877

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR003599, Ig_sub
IPR008664, LISCH7

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05624, LSR, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409, IG, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726, SSF48726, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q86SU0-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:546
Mass (Da):62,815
Last modified:July 11, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE2FDF8AD9032B5D7
GO
Isoform 2 (identifier: Q86SU0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-259: Missing.

Show »
Length:502
Mass (Da):57,775
Checksum:iD686BE1DF8FEF449
GO
Isoform 3 (identifier: Q86SU0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     260-265: DLSLPS → ASRRCQ
     266-546: Missing.

Show »
Length:265
Mass (Da):30,292
Checksum:i21A71B9E2447538A
GO
Isoform 4 (identifier: Q86SU0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     92-209: Missing.
     324-329: VVERRI → NQIEEF
     330-546: Missing.

Show »
Length:211
Mass (Da):23,744
Checksum:i9249AB2357177750
GO
Isoform 5 (identifier: Q86SU0-5) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     127-127: R → P
     128-216: Missing.

Show »
Length:457
Mass (Da):52,763
Checksum:iB7C346C9B9F90235
GO
Isoform 6 (identifier: Q86SU0-6) [UniParc]FASTAAdd to basket
Also known as: Alpha'

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: MAWPKLPAPWLLLCTWLPA → MAGNIFCPFALFFLPMSRVGHLQHFLLLLAL
     216-259: Missing.

Show »
Length:514
Mass (Da):59,085
Checksum:i3E41406859C8F23E
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06535297R → Q in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationCorresponds to variant dbSNP:rs771818841Ensembl.1
Natural variantiVAR_085556195 – 546Missing in DFNB42; loss of interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST352
Natural variantiVAR_079750357I → V1 PublicationCorresponds to variant dbSNP:rs1448131970Ensembl.1
Natural variantiVAR_085557379 – 546Missing in DFNB42; no effect on interaction with MARVELD2; loss of tight junction location. 1 PublicationAdd BLAST168
Natural variantiVAR_065353453R → 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_065354463R → C1 PublicationCorresponds to variant dbSNP:rs778163752Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0196791 – 19MAWPK…TWLPA → MAGNIFCPFALFFLPMSRVG HLQHFLLLLAL in isoform 6. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_01968092 – 209Missing in isoform 4. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_019681127R → P in isoform 5. 1 Publication1
Alternative sequenceiVSP_019682128 – 216Missing in isoform 5. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_019683216 – 259Missing in isoform 2 and isoform 6. 2 PublicationsAdd BLAST44
Alternative sequenceiVSP_019684260 – 265DLSLPS → ASRRCQ in isoform 3. 1 Publication6
Alternative sequenceiVSP_019685266 – 546Missing in isoform 3. 1 PublicationAdd BLAST281
Alternative sequenceiVSP_019686324 – 329VVERRI → NQIEEF in isoform 4. 1 Publication6
Alternative sequenceiVSP_019687330 – 546Missing in isoform 4. 1 PublicationAdd BLAST217

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3008.1 [Q86SU0-2]
CCDS56270.1 [Q86SU0-5]
CCDS56271.1 [Q86SU0-1]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		286676

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:286676

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000344209.10; ENSP00000345667.5; NM_001199799.2; NP_001186728.1

UCSC genome browser

More...UCSCi		uc003eeq.4, human [Q86SU0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS3008.1 [Q86SU0-2]
CCDS56270.1 [Q86SU0-5]
CCDS56271.1 [Q86SU0-1]
RefSeqiNP_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

AlphaFoldDBiQ86SU0
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi130413, 10 interactors
IntActiQ86SU0, 5 interactors
STRINGi9606.ENSP00000345667

PTM databases

iPTMnetiQ86SU0
PhosphoSitePlusiQ86SU0

Genetic variation databases

BioMutaiILDR1
DMDMi110279019

Proteomic databases

jPOSTiQ86SU0
MassIVEiQ86SU0
PaxDbiQ86SU0
PeptideAtlasiQ86SU0
PRIDEiQ86SU0
ProteomicsDBi69633 [Q86SU0-1]
69634 [Q86SU0-2]
69635 [Q86SU0-3]
69636 [Q86SU0-4]
69637 [Q86SU0-5]
69638 [Q86SU0-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3021, 72 antibodies from 14 providers

The DNASU plasmid repository

More...DNASUi		286676

Genome annotation databases

EnsembliENST00000273691.7; 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]
GeneIDi286676
KEGGihsa:286676
MANE-SelectiENST00000344209.10; ENSP00000345667.5; NM_001199799.2; NP_001186728.1
UCSCiuc003eeq.4, human [Q86SU0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		286676
DisGeNETi286676

GeneCards: human genes, protein and diseases

More...GeneCardsi		ILDR1
HGNCiHGNC:28741, ILDR1
HPAiENSG00000145103, Tissue enhanced (parathyroid)
MalaCardsiILDR1
MIMi609646, phenotype
609739, gene
neXtProtiNX_Q86SU0
OpenTargetsiENSG00000145103
Orphaneti90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134883110
VEuPathDBiHostDB:ENSG00000145103

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QS11, Eukaryota
GeneTreeiENSGT00950000183058
HOGENOMiCLU_037131_1_0_1
InParanoidiQ86SU0
OMAiREYEHHA
OrthoDBi860055at2759
PhylomeDBiQ86SU0
TreeFamiTF330877

Enzyme and pathway databases

PathwayCommonsiQ86SU0
SignaLinkiQ86SU0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		286676, 16 hits in 1064 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		286676
PharosiQ86SU0, Tbio

Protein Ontology

More...PROi		PR:Q86SU0
RNActiQ86SU0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000145103, Expressed in caput epididymis and 113 other tissues
GenevisibleiQ86SU0, HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR003599, Ig_sub
IPR008664, LISCH7
PfamiView protein in Pfam
PF05624, LSR, 1 hit
SMARTiView protein in SMART
SM00409, IG, 1 hit
SUPFAMiSSF48726, SSF48726, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiILDR1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86SU0
Secondary accession number(s): Q6ZP61, Q7Z578
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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