LCA5 - lebercilin LCA5 Gene

Also Known as C6orf152

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 167691

About 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.

Summary

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 Products (2)

mRNA Protein Name
NM_001122769.3 NP_001116241.1 lebercilin
NM_181714.4 NP_859065.2 lebercilin

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19800048 GOA
enables protein-containing complex binding IDA
IDA: Inferred from direct assay
21606596 GOA
Cellular Component GO Annotation Evidence References Source
located in cilium IDA
IDA: Inferred from direct assay
21606596 GOA
located in photoreceptor connecting cilium IDA
IDA: Inferred from direct assay
21606596 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LCA5 Protein Structure

Lebercilin

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

  • 0
  • 200
  • 400
  • 600
  • 697 a.a.
Protein Preferred Names Protein Names

lebercilin

  • LCA5, lebercilin

LCA5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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 (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07548 LCA5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-177795 5β-Cholanic acid-3,6-dione / Unkown

Orthologs Information

Species Symbol Source 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
Others LCA5 NCBI