2. Gene
  3. LCA5 - lebercilin LCA5 Gene

LCA5 - lebercilin LCA5 Gene

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

中文名称：乐贝西林 LCA5

种属: Homo sapiens

同用名: C6orf152

基因 ID: 167691 | 基因类型: protein coding

关于 LCA5

Cytogenetic location: 6q14.1 Genomic coordinates (GRCh38): 6:79,484,991-79,538,782 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 5.0), thyroid (RPKM 4.0) and 25 other tissues.

功能概要

该基因编码的蛋白质被认为与中心体或纤毛功能有关。该基因的突变导致 Leber 先天性黑蒙症 V 型。描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 10 月]

This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]

LCA5 基因产物(2)

mRNA Protein Name
NM_001122769.3 NP_001116241.1 lebercilin
NM_181714.4 NP_859065.2 lebercilin
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19800048 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
21606596 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cilium IDA
IDA: 通过直接分析推断
21606596 GOA
located in photoreceptor connecting cilium IDA
IDA: 通过直接分析推断
21606596 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

LCA5 蛋白结构

Lebercilin

Lebercilin: Ciliary protein causing Leber congenital amaurosis disease (100 - 292)

  • 0
  • 200
  • 400
  • 600
  • 697 a.a.
蛋白主名 其他名称

lebercilin

LCA5, lebercilin

LCA5 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
Intra LCA5 Q86VQ0 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
Intra LCA5 Q86VQ0 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
Intra LCA5 Q86VQ0 TFIP11 Homo sapiens Q9UBB9
BioID
26638075
Intra LCA5 Q86VQ0 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
Intra LCA5 Q86VQ0 RCOR3 Homo sapiens Q9P2K3-2
Validated Y2H
32296183
Intra LCA5 Q86VQ0 SSNA1 Homo sapiens O43805
TAP
27173435
Intra LCA5 Q86VQ0 SSNA1 Homo sapiens O43805
Anti Tag CoIP
28514442
Intra LCA5 Q86VQ0 TXLNA Homo sapiens P40222
Validated Y2H
25416956
Intra LCA5 Q86VQ0 SUFU Homo sapiens Q9UMX1
Validated Y2H
32296183
Intra LCA5 Q86VQ0 RCOR3 Homo sapiens Q9P2K3
Y2H Array
25416956
Intra LCA5 Q86VQ0 GCC1 Homo sapiens Q96CN9
Validated Y2H
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
Leber Congenital Amaurosis 5

LCA5

Leber Congenital Amaurosis, Type 5
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
Severe Early-Childhood-Onset Retinal Dystrophy

Eosrd

Early-Onset Severe Retinal Dystrophy

Secord

Retinal Dystrophy, Early Onset Severe
Leber Congenital Amaurosis 1

LCA1

Amaurosis Congenita Of Leber I

Lca

Retinal Blindness, Congenital

Crb

Leber Congenital Amaurosis Type I

Leber Congenital Amaurosis, Type 1

Amaurosis Congenita Of Leber, Type 1
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
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
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
Leber Congenital Amaurosis 3

LCA3

Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive

Leber Congenital Amaurosis, Type 3

Leber Congenital Amaurosis Type 3
Leber Congenital Amaurosis 9

LCA9

Leber Congenital Amaurosis, Type 9
Leber Congenital Amaurosis 8

LCA8

Leber Congenital Amaurosis, Type 8
Leber Congenital Amaurosis 2

LCA2

Amaurosis Congenita Of Leber Ii

Amaurosis Congenita Of Leber, Type 2

Leber Congenital Amaurosis Type Ii

Leber Congenital Amaurosis, Type 2

Leber Congenital Amaurosis, Type Ii
Leber Congenital Amaurosis 11

LCA11

Leber Congenital Amaurosis, Type 11
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis

Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis

Shilca Syndrome

SHILCA

Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome
Leber Congenital Amaurosis 15

LCA15

Leber Congenital Amaurosis, Type 15
Leber Congenital Amaurosis 7

LCA7

Leber Congenital Amaurosis, Type 7
Simpson-Golabi-Behmel Syndrome, Type 2

Simpson-Golabi-Behmel Syndrome Type 2

SGBS2

Simpson-Golabi-Behmel Syndrome 2
Leber Congenital Amaurosis 6

LCA6

Leber Congenital Amaurosis, Type 6
Meckel Syndrome, Type 8

Meckel Syndrome 8

MKS8

Meckel-Gruber Syndrome, Type 8
Leber Congenital Amaurosis 4

LCA4

Retinitis Pigmentosa, Juvenile

Cone-Rod Dystrophy

Leber Congenital Amaurosis, Type 4

Retinitis Pigmentosa
Leber Congenital Amaurosis 10

LCA10

Leber Congenital Amaurosis, Type 10
Refractive Amblyopia

Ametropic Amblyopia
Leber Congenital Amaurosis 14

LCA14

Retinitis Pigmentosa, Juvenile, Lrat-Related

Retinal Dystrophy, Early-Onset Severe

Retinitis Pigmentosa, Juvenile

Retinitis Pigmentosa Juvenile Lrat-Related

Severe Early-Onset Retinal Dystrophy Lrat-Related

Retinal Dystrophy, Early-Onset Severe, Lrat-Related

Leber Congenital Amaurosis, Type 14
Retinitis Pigmentosa 28

RP28

Retinitis Pigmentosa, Type 28
Leber Congenital Amaurosis 13

LCA13

Retinitis Pigmentosa 53

RP53

Leber Congenital Amaurosis, Type 13
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Leber Congenital Amaurosis 12

LCA12

Leber Congenital Amaurosis, Type 12
Leber Congenital Amaurosis 16

LCA16

Leber Congenital Amaurosis, Type 16
Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20
Keratoconus

Kc

Conical Cornea

Noninflammatory Corneal Thining

Bulging Cornea

Cornea Conical

Acquired Conus Of Cornea
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
Cone-Rod Dystrophy 18

CORD18

Dystrophy, Cone-Rod, Type 18
Senior-Loken Syndrome 1

Senior-Loken Syndrome

Renal Dysplasia And Retinal Aplasia

Renal-Retinal Syndrome

Loken-Senior Syndrome

Juvenile Nephronophthisis With Leber Amaurosis

SLSN1

Senior-Loken Syndrome-1

Loken Senior Syndrome

Senior Loken Syndrome

Renal Dysplasia Retinal Aplasia

Nephronophthisis With Retinal Dystrophy

Renal Dysplasia-Retinal Aplasia Syndrome

Slsn
Retinitis Pigmentosa 54

RP54

Retinitis Pigmentosa, Type 54
Cone-Rod Dystrophy 16

Retinitis Pigmentosa 64

Retinal Dystrophy With Early Macular Involvement

CORD16

RP64
Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3
Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome

Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

Graefe-Usher Syndrome

Hallgren Syndrome

Usher'S Syndrome

Retinitis Pigmentosa-Deafness Syndrome

Retinitis Pigmentosa-Hearing Loss Syndrome

Ush

Usher Syndromes
Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1
Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma
Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07548 LCA5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus LCA5 RGD RGD:1308555
Felis catus LCA5 VGNC VGNC:63203
Canis familiaris LCA5 VGNC VGNC:42605
Bos taurus LCA5 VGNC VGNC:30807
Mus musculus LCA5 MGD MGI:1923032
Macaca mulatta LCA5 VGNC VGNC:74172
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