Seroatlas · Human Serome Atlas

CERKL

Ceramide kinase-like protein

Also known as: CERKL_HUMAN, RP26

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q49MI3
Gene: CERKL
Ensembl: ENSG00000188452
Chromosome: 2
Canonical length: 558 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>Q49MI3|CERKL
     1  MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG IFEIGRDSCD
    61  VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS VKLKRRCSVK QQRSGTLLGI
   121  TLFICLKKEQ NKLKNSTLDL INLSEDHCDI WFRQFKKILA GFPNRPKSLK ILLNPQSHKK
   181  EATQVYYEKV EPLLKLAGIK TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ
   241  RLFTGMQTLE PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG
   301  STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF GFGGRTLALA
   361  EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD VQERRAQGSP KSDCNDQWQM
   421  IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL NNGSMALIIA RNTSRPEFIK HLKRYASVKN
   481  QFNFPFVETY TVEEVKVHPR NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL
   541  HPRLISLYGG SMEEMIPK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CERKL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

retina: 20 nTPM
kidney: 8.1 nTPM
fallopian tube: 7.7 nTPM
choroid plexus: 6.1 nTPM
cerebellum: 3.5 nTPM
small intestine: 1.9 nTPM

Single-cell type

respiratory ciliated cells: 168 nCPM
ependymal cells: 154 nCPM
endometrial ciliated cells: 146 nCPM
rod photoreceptor cells: 131 nCPM
fallopian tube ciliated cells: 98 nCPM
cone photoreceptor cells: 85 nCPM

Immune cell

non-classical monocyte: 0.2 nTPM
eosinophil: 0.1 nTPM
intermediate monocyte: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebellum: 29 nTPM
choroid plexus: 16 nTPM
midbrain: 5.8 nTPM
medulla oblongata: 5.7 nTPM
spinal cord: 5.4 nTPM
white matter: 5.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CERKL.

Disease | AllUniProt

Conditions CERKL is implicated in, by any mechanism.

Retinitis pigmentosa 26 (RP26) MIM:608380

Disease | GeneticClinVar

202 pathogenic / likely-pathogenic of 1,071 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Retinitis pigmentosa 26
Retinal dystrophy
Retinitis pigmentosa
Cone-rod dystrophy
Autosomal recessive retinitis pigmentosa

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.54
gnomAD pLI: 0
gnomAD missense Z: -0.27
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CERKL as an antibody target. Whether an autoantibody or antibody against CERKL could matter depends on whether native CERKL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CERKL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CERKL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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