• Gene id: 753

Gene Summary

• Gene Symbol: LDLRAD4   Gene   UCSC   Ensembl
• Aliases: C18orf1
• Gene name: low density lipoprotein receptor class A domain containing 4
• Alternate names: low-density lipoprotein receptor class A domain-containing protein 4, clone 22,
• Gene location: 18p11.21 (13217605: 13652753)     Exons: 33     NC_000018.10
• OMIM: 613698

Protein Summary

• Protein general information: O15165  
  • Name: Low density lipoprotein receptor class A domain containing protein 4
  • Length: 306  
  • Mass: 33900
  • Tissue specificity: Expressed in lymphocytes. {ECO
• Sequence:

  MPEAGFQATNAFTECKFTCTSGKCLYLGSLVCNQQNDCGDNSDEENCLLVTEHPPPGIFNSELEFAQIIIIVVVV
  TVMVVVIVCLLNHYKVSTRSFINRPNQSRRREDGLPQEGCLWPSDSAAPRLGASEIMHAPRSRDRFTAPSFIQRD
  RFSRFQPTYPYVQHEIDLPPTISLSDGEEPPPYQGPCTLQLRDPEQQMELNRESVRAPPNRTIFDSDLIDIAMYS
  GGPCPPSSNSGISASTCSSNGRMEGPPPTYSEVMGHHPGASFLHHQRSNAHRGSRLQFQQNNAESTIVPIKGKDR
  KPGNLV

• Structural information:
  • Protein Domains: (16..4-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124"-)
  • Interpro: IPR036055  IPR023415  IPR002172  
  • Prosite: PS01209 PS50068
  • CDD: cd00112
  • STRING: ENSP00000352420
• Other Databases: GeneCards:  LDLRAD4  Malacards:  LDLRAD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IBA	biological process
GO:0031901	early endosome membrane	IBA	cellular component
GO:0000139	Golgi membrane	IBA	cellular component
GO:0070412	R-SMAD binding	IBA	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0010991	negative regulation of SMAD protein complex assembly	IBA	biological process
GO:0010991	negative regulation of SMAD protein complex assembly	IDA	biological process
GO:0010719	negative regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0060394	negative regulation of pathway-restricted SMAD protein phosphorylation	IMP	biological process
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0070412	R-SMAD binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0009968	negative regulation of signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0031901	early endosome membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq