• Gene id: 286676

Gene Summary

• Gene Symbol: ILDR1   Gene   UCSC   Ensembl
• Aliases: DFNB42, ILDR1alpha, ILDR1alpha', ILDR1beta
• Gene name: immunoglobulin like domain containing receptor 1
• Alternate names: immunoglobulin-like domain-containing receptor 1, immunoglobulin-like domain-containing receptor 1 alpha, immunoglobulin-like domain-containing receptor 1 beta,
• Gene location: 3q13.33 (122060553: 121987322)     Exons: 9     NC_000003.12
• Gene summary(Entrez): This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced tr
• OMIM: 609739

Protein Summary

• Protein general information: Q86SU0  
  • Name: Immunoglobulin like domain containing receptor 1
  • Length: 546  
  • Mass: 62815
  • Tissue specificity: Mainly expressed in prostate and to a lower extent in testis, pancreas, kidney, heart and liver. {ECO
• Sequence:

  MAWPKLPAPWLLLCTWLPAGCLSLLVTVQHTERYVTLFASIILKCDYTTSAQLQDVVVTWRFKSFCKDPIFDYYS
  ASYQAALSLGQDPSNDCNDNQREVRIVAQRRGQNEPVLGVDYRQRKITIQNRADLVINEVMWWDHGVYYCTIEAP
  GDTSGDPDKEVKLIVLHWLTVIFIILGALLLLLLIGVCWCQCCPQYCCCYIRCPCCPAHCCCPEEALARHRYMKQ
  AQALGPQMMGKPLYWGADRSSQVSSYPMHPLLQRDLSLPSSLPQMPMTQTTNQPPIANGVLEYLEKELRNLNLAQ
  PLPPDLKGRFGHPCSMLSSLGSEVVERRIIHLPPLIRDLSSSRRTSDSLHQQWLTPIPSRPWDLREGRSHHHYPD
  FHQELQDRGPKSWALERRELDPSWSGRHRSSRLNGSPIHWSDRDSLSDVPSSSEARWRPSHPPFRSRCQERPRRP
  SPRESTQRHGRRRRHRSYSPPLPSGLSSWSSEEDKERQPQSWRAHRRGSHSPHWPEEKPPSYRSLDITPGKNSRK
  KGSVERRSEKDSSHSGRSVVI

• Structural information:
  • Protein Domains: (24..16-)
    (/note="Ig-like-V-type")
  • Interpro: IPR036179  IPR003599  IPR008664  
  • STRING: ENSP00000345667
• Other Databases: GeneCards:  ILDR1  Malacards:  ILDR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0070506	high-density lipoprotein particle receptor activity	IEA	molecular function
GO:0061689	tricellular tight junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0090277	positive regulation of peptide hormone secretion	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq