UNC119 - unc-119 lipid binding chaperone Gene

Homo sapiens

Also known as HRG4; POC7; IMD13; POC7A

Gene ID: 9094 | Gene type: protein coding

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-127002	Squarunkin A	Inhibitor	99.34%	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 Sets	/	Unkown
HY-RS15463	UNC119B Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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