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Entry version 148 (17 Jun 2020)
Sequence version 2 (11 Jul 2006)
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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

Putative membrane receptor.

<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

GO - Biological processi

<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

<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 1
<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:ILDR1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000145103.12

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

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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 membrane, Cytoplasm, Membrane

<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)1 Publication
The disease is caused by mutations 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. 1 PublicationCorresponds to variant dbSNP:rs771818841Ensembl.1
Natural variantiVAR_065353453R → Q in DFNB42; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs372564314Ensembl.1

Keywords - Diseasei

Deafness, Disease mutation, 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

Polymorphism and mutation 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

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jPOSTi
Q86SU0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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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 93 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q86SU0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000145103 Tissue enhanced (ductus deferens, seminal vesicle)

<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.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
130413, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q86SU0, 4 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 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

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi188 – 212Cys-richAdd BLAST25
Compositional biasi431 – 466Arg-richAdd BLAST36

<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

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFI2 Eukaryota
ENOG4110276 LUCA

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
DCNDSQR

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

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036179 Ig-like_dom_sf
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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 <div> <p><b>What is the canonical sequence?</b><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. 1 PublicationCorresponds to variant dbSNP:rs771818841Ensembl.1
Natural variantiVAR_079750357I → V1 PublicationCorresponds to variant dbSNP:rs1448131970Ensembl.1
Natural variantiVAR_065353453R → Q in DFNB42; uncertain pathological significance. 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

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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

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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; ENSP00000273691; ENSG00000145103 [Q86SU0-2]
ENST00000344209; ENSP00000345667; ENSG00000145103 [Q86SU0-1]
ENST00000393631; ENSP00000377251; ENSG00000145103 [Q86SU0-5]
ENST00000642615; ENSP00000495499; ENSG00000145103 [Q86SU0-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
286676

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:286676

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

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi130413, 5 interactors
IntActiQ86SU0, 4 interactors
STRINGi9606.ENSP00000345667

PTM databases

iPTMnetiQ86SU0
PhosphoSitePlusiQ86SU0

Polymorphism and mutation 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

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Antibodypediai
3021 68 antibodies

Genome annotation databases

EnsembliENST00000273691; ENSP00000273691; ENSG00000145103 [Q86SU0-2]
ENST00000344209; ENSP00000345667; ENSG00000145103 [Q86SU0-1]
ENST00000393631; ENSP00000377251; ENSG00000145103 [Q86SU0-5]
ENST00000642615; ENSP00000495499; ENSG00000145103 [Q86SU0-3]
GeneIDi286676
KEGGihsa:286676
UCSCiuc003eeq.4 human [Q86SU0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
286676
DisGeNETi286676
EuPathDBiHostDB:ENSG00000145103.12

GeneCards: human genes, protein and diseases

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GeneCardsi
ILDR1
HGNCiHGNC:28741 ILDR1
HPAiENSG00000145103 Tissue enhanced (ductus deferens, seminal vesicle)
MalaCardsiILDR1
MIMi609646 phenotype
609739 gene
neXtProtiNX_Q86SU0
OpenTargetsiENSG00000145103
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA134883110

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFI2 Eukaryota
ENOG4110276 LUCA
GeneTreeiENSGT00950000183058
HOGENOMiCLU_037131_1_0_1
InParanoidiQ86SU0
OMAiDCNDSQR
OrthoDBi860055at2759
PhylomeDBiQ86SU0
TreeFamiTF330877

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
286676 2 hits in 780 CRISPR screens

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

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GenomeRNAii
286676
PharosiQ86SU0 Tbio

Protein Ontology

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PROi
PR:Q86SU0
RNActiQ86SU0 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145103 Expressed in caput epididymis and 93 other tissues
GenevisibleiQ86SU0 HS

Family and domain databases

InterProiView protein in InterPro
IPR036179 Ig-like_dom_sf
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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: June 17, 2020
This is version 148 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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