CERKL - ceramide kinase like Gene

Also Known as RP26

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 375298

About CERKL

Cytogenetic location: 2q31.3 Genomic coordinates (GRCh38): 2:181,536,672-181,657,105 (from NCBI)

This gene has 15 transcripts (splice variants), 241 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in lymph node (RPKM 16.6), appendix (RPKM 16.2) and 20 other tissues.

Summary

This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of Apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]

CERKL Products (5)

mRNA Protein Name
NM_001030311.3 NP_001025482.1 ceramide kinase-like protein isoform 2
NM_001030312.3 NP_001025483.1 ceramide kinase-like protein isoform 3
NM_001030313.3 NP_001025484.1 ceramide kinase-like protein isoform 4
NM_001160277.2 NP_001153749.1 ceramide kinase-like protein isoform 7
NM_201548.5 NP_963842.1 ceramide kinase-like protein isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
Biological Process GO Annotation Evidence References Source
involved in negative regulation of apoptotic process IDA
IDA: Inferred from direct assay
19158957 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
19158957 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
19158957 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
19158957 GOA
located in nucleolus IDA
IDA: Inferred from direct assay
19158957 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

CERKL Protein Structure

DAGK_cat

DAGK_cat: Diacylglycerol kinase catalytic domain (170 - 333)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 558 a.a.
Protein Preferred Names Protein Names

ceramide kinase-like protein

CERKL Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CERKL Q49MI3 PPM1A Homo sapiens P35813
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Retinitis Pigmentosa 26

  • RP26

  • Retinitis Pigmentosa-26

  • Retinitis Pigmentosa, Type 26
Isolated Macular 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
Cone Dystrophy

  • Retinal Cone Dystrophy

  • Dystrophy, Cone

  • Cone Dystrophy 3
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
Pseudoretinitis Pigmentosa

  • Secondary Pigmentary Retinal Degeneration

  • Secondary Pigmentary Degeneration Of Retina
Retinitis Pigmentosa 73

  • RP73

  • Retinitis Pigmentosa, Type 73
Retinitis Pigmentosa 85

  • RP85

  • Retinitis Pigmentosa, Type 85
Peripheral Retinal Degeneration

  • Peripheral Degeneration Of Retina

  • Degeneration Of Retina Nos

  • Reticular Retinal Degeneration

  • Retinal Degeneration
Solar Retinopathy

  • Solar Retinitis
Retinal Degeneration

  • Degeneration Of Retina
Choroidal Dystrophy, Central Areolar, 1

  • Choroidal Sclerosis

  • Choroidal Dystrophy

  • Choroidal Dystrophy, Central Areolar

  • Cacd

  • Central Areolar Choroidal Dystrophy

  • CACD1

  • Choroidal Dystrophy, Central Areolar 1

  • Choroidal Dystrophy Central Areolar

  • Central Areolar Choroidal Sclerosis

  • Choroidal Degenerations

  • Areolar Atrophy Of The Macula

  • Partial Central Choroid Dystrophy

  • Degenerative Choroidopathy

  • Chorioretinal Degeneration

  • Hereditary Chorioretinal Degeneration

  • Hereditary Degeneration Of Choroid

  • Hereditary Choroidal Dystrophies

  • Generalised Choroidal Dystrophy

  • Hereditary Choroidopathy
Chorioretinal Scar

  • Chorioretinal Cicatrix

  • Cicatrix Of Choroid

  • Choroid Scar

  • Macula Scar

  • Macular Scarring

  • Retinal Cicatrix

  • Retinal Scar
Cone-Rod Dystrophy 16

  • Retinitis Pigmentosa 64

  • Retinal Dystrophy With Early Macular Involvement

  • CORD16

  • RP64
Stargardt Disease

  • Stargardt Disease 1

  • Stargardt Macular Dystrophy

  • Stargardt Disease-1

  • Juvenile Onset Macular Degeneration

  • Stargardt Macular Degeneration

  • Juvenile Macular Degeneration

  • Macular Dystrophy With Flecks, Type 1

  • Stgd

  • Fundus Flavimaculatus

  • Stargardt 1

  • Stargardts Disease
Fundus Albipunctatus

  • Retinitis Punctata Albescens

  • Pigmentary Retinal Dystrophy

  • RPA

  • Albipunctate Retinal Dystrophy

  • Lauber'S Disease

  • FALBI

  • Fa
Eye Degenerative Disease
Vitelliform Macular Dystrophy

  • Best Disease

  • Juvenile-Onset Vitelliform Macular Dystrophy

  • Macular Dystrophy, Vitelliform

  • Best Macular Dystrophy

  • Vitelliform Dystrophy
Usher Syndrome Type 2

  • Ush2

  • Usher Syndrome Type Ii
Congenital Stationary Night Blindness

  • Night Blindness, Congenital Stationary

  • Congenital Essential Nyctalopia

  • Oguchi Disease

  • Blindness, Night, Stationary, Congenital
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
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
Bardet-Biedl Syndrome

  • Bbs

  • Biedl-Bardet Syndrome
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
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 (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02535 CERKL Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus CERKL RGD RGD:1561057
Mus musculus CERKL MGD MGI:3037816
Felis catus CERKL VGNC VGNC:80166
Bos taurus CERKL VGNC VGNC:27223
Macaca mulatta CERKL VGNC VGNC:71074
Canis familiaris CERKL VGNC VGNC:39147
Others CERKL NCBI