2. Gene
  3. UNC119 - unc-119 lipid binding chaperone Gene

UNC119 - unc-119 lipid binding chaperone Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：unc-119 脂质结合伴侣

种属: Homo sapiens

同用名: HRG4; POC7; IMD13; POC7A

基因 ID: 9094 | 基因类型: protein coding

关于 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.

功能概要

该基因在视网膜的光感受器中特异性表达。编码产物与秀丽隐杆线虫 unc119 蛋白具有很强的同源性，可以在功能上补充秀丽隐杆线虫 unc119 突变。它已定位于视网膜外丛状层的光感受器突触，并被认为在通过突触小泡周期释放光感受器神经递质的机制中发挥作用。已针对该基因描述了编码不同亚型的两种转录物变体。[RefSeq 提供，2008 年 7 月]

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 基因产物(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 蛋白结构

GMP_PDE_delta

GMP_PDE_delta: GMP-PDE, delta subunit (78 - 237)

  • 0
  • 100
  • 200
  • 240 a.a.
蛋白主名 其他名称

protein unc-119 homolog A

POC7 centriolar protein homolog A

UNC119 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
UNC119 Q13432 Arl2 Mus musculus Q9D0J4
X-Ray Diffraction
22960633
种属内
UNC119 Q13432 KRTAP9-3 Homo sapiens Q9BYQ3
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 KRTAP9-3 Homo sapiens Q9BYQ3
Y2H Array
32296183
种属内
UNC119 Q13432 KRTAP9-3 Homo sapiens Q9BYQ3
Validated Y2H
32296183
种属内
UNC119 Q13432 TMEM200A Homo sapiens Q86VY9
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 TMEM200A Homo sapiens Q86VY9
Validated Y2H
32296183
种属内
UNC119 Q13432 TMEM200A Homo sapiens Q86VY9
Y2H Array
32296183
种属内
UNC119 Q13432 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Array
32296183
种属内
UNC119 Q13432 KRTAP1-3 Homo sapiens Q8IUG1
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 KRTAP9-8 Homo sapiens Q9BYQ0
Validated Y2H
32296183
种属内
UNC119 Q13432 KRTAP9-8 Homo sapiens Q9BYQ0
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 KRTAP9-8 Homo sapiens Q9BYQ0
Y2H Array
32296183
种属内
UNC119 Q13432 PPP3CA Homo sapiens Q08209-2
Y2H Array
32296183
种属内
UNC119 Q13432 PPP3CA Homo sapiens Q08209-2
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 RBPMS2 Homo sapiens Q6ZRY4
Validated Y2H
32296183
种属内
UNC119 Q13432 RBPMS2 Homo sapiens Q6ZRY4
Y2H Array
32296183
种属内
UNC119 Q13432 RBPMS2 Homo sapiens Q6ZRY4
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 AMOT Homo sapiens A2BDD9
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 AMOT Homo sapiens A2BDD9
Y2H Array
32296183
种属内
UNC119 Q13432 NPHP3 Homo sapiens Q7Z494
TAP
27173435
种属内
UNC119 Q13432 NPHP3 Homo sapiens Q7Z494
Anti Tag CoIP
33961781
种属内
UNC119 Q13432 PPP3CC Homo sapiens P48454
Y2H Array
32296183
种属内
UNC119 Q13432 PPP3CC Homo sapiens P48454
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 CFTR Homo sapiens P13569
Ub Reconstruction
35156780
种属内
UNC119 Q13432 AMOT Homo sapiens Q4VCS5-2
Y2H Array
25416956
种属内
UNC119 Q13432 AMOT Homo sapiens Q4VCS5-2
Y2H Prey Pooling
25416956
种属内
UNC119 Q13432 LRIF1 Homo sapiens Q5T3J3
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 LRIF1 Homo sapiens Q5T3J3
Validated Y2H
32296183
种属内
UNC119 Q13432 LRIF1 Homo sapiens Q5T3J3
Y2H Array
32296183
种属间
UNC119 Q13432 Arl3 Mus musculus Q9WUL7
X-Ray Diffraction
22960633
种属内
UNC119 Q13432 ARL15 Homo sapiens Q9NXU5
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 ARL15 Homo sapiens Q9NXU5
Validated Y2H
32296183
种属内
UNC119 Q13432 ARL15 Homo sapiens Q9NXU5
Y2H Array
32296183
种属内
UNC119 Q13432 ARL3 Homo sapiens P36405
FPS
18588884
种属内
UNC119 Q13432 ARL3 Homo sapiens P36405
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 ARL3 Homo sapiens P36405
TAP
27173435
种属内
UNC119 Q13432 ARL3 Homo sapiens P36405
Y2H Array
32296183
种属内
UNC119 Q13432 ARL3 Homo sapiens P36405
Anti Tag CoIP
28514442
种属内
UNC119 Q13432 C16orf74 Homo sapiens Q96GX8
Y2H Pooling
16189514
种属内
UNC119 Q13432 C16orf74 Homo sapiens Q96GX8
Validated Y2H
32296183
种属内
UNC119 Q13432 C16orf74 Homo sapiens Q96GX8
Y2H Array
32296183
种属内
UNC119 Q13432 C16orf74 Homo sapiens Q96GX8
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 ARL2 Homo sapiens P36404
FPS
18588884
种属内
UNC119 Q13432 ARL2 Homo sapiens P36404
TAP
27173435
种属内
UNC119 Q13432 ARL2 Homo sapiens P36404
Y2H Prey Pooling
25416956
种属内
UNC119 Q13432 ARL2 Homo sapiens P36404
Validated Y2H
25416956
种属内
UNC119 Q13432 ARL2 Homo sapiens P36404
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 ARL2 Homo sapiens P36404
Y2H Array
32296183
种属内
UNC119 Q13432 RCAN3 Homo sapiens Q9UKA8
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 RCAN3 Homo sapiens Q9UKA8
Validated Y2H
32296183
种属内
UNC119 Q13432 RCAN3 Homo sapiens Q9UKA8
Y2H Array
32296183
种属内
UNC119 Q13432 TP53INP1 Homo sapiens Q96A56
Y2H Prey Pooling
32296183
种属内
UNC119 Q13432 TP53INP1 Homo sapiens Q96A56
Validated Y2H
32296183
种属内
UNC119 Q13432 TP53INP1 Homo sapiens Q96A56
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-127002 Squarunkin A Inhibitor 99.34% 否
HY-164368 GLUT4 activator 2 Activator / 否
HY-127002A Squarunkin A hydrochloride Inhibitor / 否
HY-RS15462 UNC119 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS15463 UNC119B Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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