• Gene id: 9094

Gene Summary

• Gene Symbol: UNC119   Gene   UCSC   Ensembl
• Aliases: HRG4, IMD13, POC7, POC7A
• Gene name: unc-119 lipid binding chaperone
• Alternate names: protein unc-119 homolog A, POC7 centriolar protein homolog A, retinal protein 4, unc-119 homolog,
• Gene location: 17q11.2 (28552632: 28546706)     Exons: 5     NC_000017.11
• Gene summary(Entrez): This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photorec
• OMIM: 604011

Protein Summary

• Protein general information: Q13432  
  • Name: Protein unc 119 homolog A (Retinal protein 4) (hRG4)
  • Length: 240  
  • Mass: 26962
  • Tissue specificity: Abundantly expressed in retina, in photoreceptor synapses and inner segments. Expressed in a much lesser extent in several other tissues. {ECO
• Sequence:

  MKVKKGGGGAGTATESAPGPSGQSVAPIPQPPAESESGSESEPDAGPGPRPGPLQRKQPIGPEDVLGLQRITGDY
  LCSPEENIYKIDFVRFKIRDMDSGTVLFEIKKPPVSERLPINRRDLDPNAGRFVRYQFTPAFLRLRQVGATVEFT
  VGDKPVNNFRMIERHYFRNQLLKSFDFHFGFCIPSSKNTCEHIYDFPPLSEELISEMIRHPYETQSDSFYFVDDR
  LVMHNKADYSYSGTP

• Structural information:
  • Interpro: IPR014756  IPR008015  IPR037036  IPR032977  
  • PDB: 3GQQ 3RBQ 4GOJ 4GOK 5L7K 6H6A
  • PDBsum: 3GQQ 3RBQ 4GOJ 4GOK 5L7K 6H6A
  • DIP: 42697
  • STRING: ENSP00000337040
• Other Databases: GeneCards:  UNC119  Malacards:  UNC119

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900186	negative regulation of clathrin-dependent endocytosis	IBA	biological process
GO:0042953	lipoprotein transport	IBA	biological process
GO:0008289	lipid binding	IBA	molecular function
GO:0007601	visual perception	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:2001287	negative regulation of caveolin-mediated endocytosis	IBA	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IBA	biological process
GO:0051233	spindle midzone	IBA	cellular component
GO:0045171	intercellular bridge	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0000922	spindle pole	IBA	cellular component
GO:0000281	mitotic cytokinesis	IBA	biological process
GO:0042953	lipoprotein transport	IDA	biological process
GO:0042953	lipoprotein transport	IDA	biological process
GO:0008289	lipid binding	IDA	molecular function
GO:0008289	lipid binding	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0051233	spindle midzone	IDA	cellular component
GO:0045171	intercellular bridge	IDA	cellular component
GO:0000922	spindle pole	IDA	cellular component
GO:1900186	negative regulation of clathrin-dependent endocytosis	ISS	biological process
GO:2001287	negative regulation of caveolin-mediated endocytosis	ISS	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IMP	biological process
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007602	phototransduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881