UNC119 - unc-119 lipid binding chaperone Gene

Also Known as HRG4; POC7; IMD13; POC7A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9094

About UNC119

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:28,546,707-28,552,628 (from NCBI)

This gene has 8 transcripts (splice variants), 268 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 17.1), bone marrow (RPKM 16.7) and 25 other tissues.

Summary

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 photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

UNC119 Products (3)

mRNA	Protein	Name
NM_001330166.2	NP_001317095.1	protein unc-119 homolog A isoform c
NM_005148.4	NP_005139.1	protein unc-119 homolog A isoform a
NM_054035.2	NP_473376.1	protein unc-119 homolog A isoform b

UNC119 Protein Structure

GMP_PDE_delta

0
100
200
240 a.a.

Protein Preferred Names	Protein Names
protein unc-119 homolog A	POC7 centriolar protein homolog A

UNC119 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	UNC119	Q13432	Arl2	Mus musculus	Q9D0J4	X-Ray Diffraction	22960633
Intra	UNC119	Q13432	KRTAP9-3	Homo sapiens	Q9BYQ3	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	KRTAP9-3	Homo sapiens	Q9BYQ3	Y2H Array	32296183
Intra	UNC119	Q13432	KRTAP9-3	Homo sapiens	Q9BYQ3	Validated Y2H	32296183
Intra	UNC119	Q13432	TMEM200A	Homo sapiens	Q86VY9	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	TMEM200A	Homo sapiens	Q86VY9	Validated Y2H	32296183
Intra	UNC119	Q13432	TMEM200A	Homo sapiens	Q86VY9	Y2H Array	32296183
Intra	UNC119	Q13432	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	UNC119	Q13432	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	KRTAP9-8	Homo sapiens	Q9BYQ0	Validated Y2H	32296183
Intra	UNC119	Q13432	KRTAP9-8	Homo sapiens	Q9BYQ0	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	KRTAP9-8	Homo sapiens	Q9BYQ0	Y2H Array	32296183
Intra	UNC119	Q13432	PPP3CA	Homo sapiens	Q08209-2	Y2H Array	32296183
Intra	UNC119	Q13432	PPP3CA	Homo sapiens	Q08209-2	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	RBPMS2	Homo sapiens	Q6ZRY4	Validated Y2H	32296183
Intra	UNC119	Q13432	RBPMS2	Homo sapiens	Q6ZRY4	Y2H Array	32296183
Intra	UNC119	Q13432	RBPMS2	Homo sapiens	Q6ZRY4	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	AMOT	Homo sapiens	A2BDD9	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	AMOT	Homo sapiens	A2BDD9	Y2H Array	32296183
Intra	UNC119	Q13432	NPHP3	Homo sapiens	Q7Z494	TAP	27173435
Intra	UNC119	Q13432	NPHP3	Homo sapiens	Q7Z494	Anti Tag CoIP	33961781
Intra	UNC119	Q13432	PPP3CC	Homo sapiens	P48454	Y2H Array	32296183
Intra	UNC119	Q13432	PPP3CC	Homo sapiens	P48454	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	UNC119	Q13432	AMOT	Homo sapiens	Q4VCS5-2	Y2H Array	25416956
Intra	UNC119	Q13432	AMOT	Homo sapiens	Q4VCS5-2	Y2H Prey Pooling	25416956
Intra	UNC119	Q13432	LRIF1	Homo sapiens	Q5T3J3	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	LRIF1	Homo sapiens	Q5T3J3	Validated Y2H	32296183
Intra	UNC119	Q13432	LRIF1	Homo sapiens	Q5T3J3	Y2H Array	32296183
Cross	UNC119	Q13432	Arl3	Mus musculus	Q9WUL7	X-Ray Diffraction	22960633
Intra	UNC119	Q13432	ARL15	Homo sapiens	Q9NXU5	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	ARL15	Homo sapiens	Q9NXU5	Validated Y2H	32296183
Intra	UNC119	Q13432	ARL15	Homo sapiens	Q9NXU5	Y2H Array	32296183
Intra	UNC119	Q13432	ARL3	Homo sapiens	P36405	FPS	18588884
Intra	UNC119	Q13432	ARL3	Homo sapiens	P36405	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	ARL3	Homo sapiens	P36405	TAP	27173435
Intra	UNC119	Q13432	ARL3	Homo sapiens	P36405	Y2H Array	32296183
Intra	UNC119	Q13432	ARL3	Homo sapiens	P36405	Anti Tag CoIP	28514442
Intra	UNC119	Q13432	C16orf74	Homo sapiens	Q96GX8	Y2H Pooling	16189514
Intra	UNC119	Q13432	C16orf74	Homo sapiens	Q96GX8	Validated Y2H	32296183
Intra	UNC119	Q13432	C16orf74	Homo sapiens	Q96GX8	Y2H Array	32296183
Intra	UNC119	Q13432	C16orf74	Homo sapiens	Q96GX8	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	ARL2	Homo sapiens	P36404	FPS	18588884
Intra	UNC119	Q13432	ARL2	Homo sapiens	P36404	TAP	27173435
Intra	UNC119	Q13432	ARL2	Homo sapiens	P36404	Y2H Prey Pooling	25416956
Intra	UNC119	Q13432	ARL2	Homo sapiens	P36404	Validated Y2H	25416956
Intra	UNC119	Q13432	ARL2	Homo sapiens	P36404	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	ARL2	Homo sapiens	P36404	Y2H Array	32296183
Intra	UNC119	Q13432	RCAN3	Homo sapiens	Q9UKA8	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	RCAN3	Homo sapiens	Q9UKA8	Validated Y2H	32296183
Intra	UNC119	Q13432	RCAN3	Homo sapiens	Q9UKA8	Y2H Array	32296183
Intra	UNC119	Q13432	TP53INP1	Homo sapiens	Q96A56	Y2H Prey Pooling	32296183
Intra	UNC119	Q13432	TP53INP1	Homo sapiens	Q96A56	Validated Y2H	32296183
Intra	UNC119	Q13432	TP53INP1	Homo sapiens	Q96A56	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Immunodeficiency 13	Idiopathic Cd4 Lymphopenia IMD13 Icl Immunodeficiency, Type 13
Idiopathic Cd4-Positive T-Lymphocytopenia	Idiopathic Cd4 Lymphocytopenia Immunodeficiency 13 T-Lymphocytopenia, Idiopathic Cd4-Positive Idiopathic Cd4 Positive T-Lymphocytopenia Icl Idiopathic Cd4 Lymphopenia Imd13
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Omsk Hemorrhagic Fever	Ohf Hemorrhagic Fever, Omsk Ohf - [Omsk Haemorrhagic Fever] Spring-Fall Haemorrhagic Fever
Cardiomyopathy, Familial Hypertrophic, 15	Hypertrophic Cardiomyopathy 15 CMH15 Cardiomyopathy, Hypertrophic, 15 Cardiomyopathy Familial Hypertrophic 15 Cardiomyopathy, Familial Hypertrophic 15 Cardiomyopathy, Hypertrophic, Familial, Type 15
Retinal Degeneration	Degeneration Of Retina
Joubert Syndrome 22	JBTS22 Joubert Syndrome, Type 22
Retinal Cone Dystrophy 1	RCD1 Retinal Cone Dystrophy-1 Retinal Cone Degeneration Cone Dystrophy, Autosomal Dominant Cone Dystrophy Autosomal Dominant Doid:0081024
Retinitis Pigmentosa 2	RP2 X-Linked Retinitis Pigmentosa 2 Xlrp2 Xlrp-2 Retinitis Pigmentosa-2 Retinitis Pigmentosa, Type 2
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Amed Syndrome, Digenic	Amed Syndrome AMEDS Bone Marrow Failure Syndrome 7, Digenic Bmfs7 Aplastic Anemia-Intellectual Disability-Dwarfism Syndrome
Hemophagocytic Lymphohistiocytosis, Familial, 2	Familial Hemophagocytic Lymphohistiocytosis 2 FHL2 Hplh2 Hlh2 Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Retinitis Pigmentosa 22	RP22 Retinitis Pigmentosa-22
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-127002	Squarunkin A	Inhibitor	99.49%	Unkown
HY-164368	GLUT4 activator 2	Activator	/	Unkown
HY-127002A	Squarunkin A hydrochloride	Inhibitor	/	Unkown
HY-RS15462	UNC119 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15463	UNC119B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19536	Unc119 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26032	Unc119 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	UNC119	MGD	MGI:1328357
Canis familiaris	UNC119	VGNC	VGNC:48133
Macaca mulatta	UNC119	VGNC	VGNC:78720
Rattus norvegicus	UNC119	RGD	RGD:3942
Bos taurus	UNC119	VGNC	VGNC:36662
Others	UNC119	NCBI