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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-Experimental evidence at protein leveli

Functioni

Putative membrane receptor.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Names & Taxonomyi

Protein namesi
Recommended name:
Immunoglobulin-like domain-containing receptor 1
Gene namesi
Name:ILDR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:28741. ILDR1.

Subcellular locationi

Isoform 5 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 167ExtracellularSequence analysisAdd BLAST144
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Topological domaini189 – 546CytoplasmicSequence analysisAdd BLAST358

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

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.
See also OMIM:609646
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06535297R → Q in DFNB42. 1 PublicationCorresponds to variant rs771818841dbSNPEnsembl.1
Natural variantiVAR_065353453R → Q in DFNB42; uncertain pathological significance. 1 PublicationCorresponds to variant rs372564314dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi286676.
MalaCardsiILDR1.
MIMi609646. phenotype.
OpenTargetsiENSG00000145103.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134883110.

Polymorphism and mutation databases

BioMutaiILDR1.
DMDMi110279019.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000024530424 – 546Immunoglobulin-like domain-containing receptor 1Add BLAST523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi45 ↔ 145By similarity
Modified residuei499PhosphoserineBy similarity1
Modified residuei501PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

PaxDbiQ86SU0.
PeptideAtlasiQ86SU0.
PRIDEiQ86SU0.

PTM databases

iPTMnetiQ86SU0.
PhosphoSitePlusiQ86SU0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000145103.
CleanExiHS_ILDR1.
GenevisibleiQ86SU0. HS.

Organism-specific databases

HPAiHPA018207.
HPA029415.

Interactioni

Subunit structurei

Homooligomer.1 Publication

Protein-protein interaction databases

BioGridi130413. 4 interactors.
STRINGi9606.ENSP00000345667.

Structurei

3D structure databases

ProteinModelPortaliQ86SU0.
SMRiQ86SU0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini24 – 162Ig-like V-typeAdd BLAST139

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi188 – 212Cys-richAdd BLAST25
Compositional biasi431 – 466Arg-richAdd BLAST36

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFI2. Eukaryota.
ENOG4110276. LUCA.
GeneTreeiENSGT00430000030906.
HOGENOMiHOG000294105.
HOVERGENiHBG060497.
InParanoidiQ86SU0.
OMAiWPEEKPP.
OrthoDBiEOG091G0875.
PhylomeDBiQ86SU0.
TreeFamiTF330877.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR008664. LISCH7.
[Graphical view]
PfamiPF05624. LSR. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 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 'canonical' 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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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 rs771818841dbSNPEnsembl.1
Natural variantiVAR_065353453R → Q in DFNB42; uncertain pathological significance. 1 PublicationCorresponds to variant rs372564314dbSNPEnsembl.1
Natural variantiVAR_065354463R → C.1 PublicationCorresponds to variant rs778163752dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.98484.

Genome annotation databases

EnsembliENST00000273691; ENSP00000273691; ENSG00000145103. [Q86SU0-2]
ENST00000344209; ENSP00000345667; ENSG00000145103. [Q86SU0-1]
ENST00000393631; ENSP00000377251; ENSG00000145103. [Q86SU0-5]
ENST00000462014; ENSP00000419414; ENSG00000145103. [Q86SU0-6]
GeneIDi286676.
KEGGihsa:286676.
UCSCiuc003eeq.4. human. [Q86SU0-1]

Keywords - Coding sequence diversityi

Alternative splicing

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]
UniGeneiHs.98484.

3D structure databases

ProteinModelPortaliQ86SU0.
SMRiQ86SU0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130413. 4 interactors.
STRINGi9606.ENSP00000345667.

PTM databases

iPTMnetiQ86SU0.
PhosphoSitePlusiQ86SU0.

Polymorphism and mutation databases

BioMutaiILDR1.
DMDMi110279019.

Proteomic databases

PaxDbiQ86SU0.
PeptideAtlasiQ86SU0.
PRIDEiQ86SU0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273691; ENSP00000273691; ENSG00000145103. [Q86SU0-2]
ENST00000344209; ENSP00000345667; ENSG00000145103. [Q86SU0-1]
ENST00000393631; ENSP00000377251; ENSG00000145103. [Q86SU0-5]
ENST00000462014; ENSP00000419414; ENSG00000145103. [Q86SU0-6]
GeneIDi286676.
KEGGihsa:286676.
UCSCiuc003eeq.4. human. [Q86SU0-1]

Organism-specific databases

CTDi286676.
DisGeNETi286676.
GeneCardsiILDR1.
HGNCiHGNC:28741. ILDR1.
HPAiHPA018207.
HPA029415.
MalaCardsiILDR1.
MIMi609646. phenotype.
609739. gene.
neXtProtiNX_Q86SU0.
OpenTargetsiENSG00000145103.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134883110.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFI2. Eukaryota.
ENOG4110276. LUCA.
GeneTreeiENSGT00430000030906.
HOGENOMiHOG000294105.
HOVERGENiHBG060497.
InParanoidiQ86SU0.
OMAiWPEEKPP.
OrthoDBiEOG091G0875.
PhylomeDBiQ86SU0.
TreeFamiTF330877.

Miscellaneous databases

GenomeRNAii286676.
PROiQ86SU0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145103.
CleanExiHS_ILDR1.
GenevisibleiQ86SU0. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR008664. LISCH7.
[Graphical view]
PfamiPF05624. LSR. 1 hit.
[Graphical view]
SMARTiSM00409. IG. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiILDR1_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 119 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.