Q49MI3 · CERKL_HUMAN
- ProteinCeramide kinase-like protein
- GeneCERKL
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids558 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | endoplasmic reticulum | |
Cellular Component | Golgi apparatus | |
Cellular Component | nucleolus | |
Cellular Component | nucleoplasm | |
Cellular Component | perinuclear region of cytoplasm | |
Cellular Component | photoreceptor inner segment | |
Cellular Component | photoreceptor outer segment | |
Molecular Function | lipid kinase activity | |
Molecular Function | sphingolipid binding | |
Biological Process | negative regulation of apoptotic process | |
Biological Process | sphingolipid biosynthetic process | |
Biological Process | sphingolipid metabolic process |
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCeramide kinase-like protein
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ49MI3
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Enriched in nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not enriched in the nucleoli.
Isoform 2
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Retinitis pigmentosa 26 (RP26)
- Note
- DescriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
- See alsoMIM:608380
Natural variants in RP26
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_065182 | 106 | R>S | in RP26; dbSNP:rs569826109 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Mutagenesis | 104-106 | Only cytoplasmic. | |||
Natural variant | VAR_065182 | 106 | in RP26; dbSNP:rs569826109 | ||
Natural variant | VAR_053688 | 232 | in dbSNP:rs10185262 | ||
Mutagenesis | 260 | Loss of nuclear localization; in isoform 2. | |||
Natural variant | VAR_053689 | 514 | in dbSNP:rs35955809 | ||
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 195 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Chain | PRO_0000181356 | 1-558 | Ceramide kinase-like protein | ||
Post-translational modification
Phosphorylated on serine residues.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Isoform 1 and isoform 2 are expressed in adult retina, liver and pancreas as well as in fetal brain, lung and kidney. Isoform 3 is expressed in adult retina as well as in fetal lung and liver. Isoform 4 is expressed in adult retina, lung and kidney as well as in fetal lung and liver. Moderately expressed in retina, kidney, lung, testis, trachea, and pancreas. Weakly expressed in brain, placenta and liver.
Developmental stage
Expressed in fetal lung, kidney and brain.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | IntAct | |
---|---|---|---|---|---|
BINARY | Q49MI3 | PPM1A P35813 | 3 | EBI-25586026, EBI-989143 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, motif, compositional bias, domain.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Region | 1-36 | Disordered | |||
Motif | 2-9 | Nuclear localization signal 1 | |||
Compositional bias | 7-21 | Basic and acidic residues | |||
Motif | 102-106 | Nuclear localization signal 2 | |||
Domain | 164-339 | DAGKc | |||
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 8 isoforms produced by Alternative splicing.
Q49MI3-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Synonymsb
- Length558
- Mass (Da)62,622
- Last updated2005-09-13 v1
- MD5 Checksum26E6E2C829B87BE063E434D33289484E
Q49MI3-2
- Name2
- Synonymsa
- Differences from canonical
- 227-252: Missing
Q49MI3-3
- Name3
- Synonymsd
- Differences from canonical
- 205-300: IMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCVGGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAG → R
Q49MI3-4
- Name4
- Synonymsc
- Differences from canonical
- 160-298: Missing
Q49MI3-5
- Name5
- NoteMay be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Q49MI3-7
- Name7
- Synonymsf
- NoteMay be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Q49MI3-8
- Name8
- Synonymse
- NoteMay be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Q49MI3-9
- Name9
- Differences from canonical
- 161-205: GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTI → V
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A804HIX5 | A0A804HIX5_HUMAN | CERKL | 240 | ||
G0XYE7 | G0XYE7_HUMAN | CERKL | 280 |
Sequence caution
Features
Showing features for compositional bias, sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Compositional bias | 7-21 | Basic and acidic residues | |||
Sequence conflict | 129 | in Ref. 2; CAG26980 | |||
Alternative sequence | VSP_016653 | 160-298 | in isoform 4 | ||
Alternative sequence | VSP_016654 | 161-173 | in isoform 8 | ||
Alternative sequence | VSP_042663 | 161-205 | in isoform 9 | ||
Alternative sequence | VSP_016655 | 174-558 | in isoform 8 | ||
Sequence conflict | 178 | in Ref. 2; CAG26978 | |||
Alternative sequence | VSP_016657 | 205-217 | in isoform 7 | ||
Alternative sequence | VSP_016656 | 205-300 | in isoform 3 | ||
Sequence conflict | 210 | in Ref. 2; CAG26977 | |||
Alternative sequence | VSP_016658 | 218-558 | in isoform 7 | ||
Alternative sequence | VSP_016659 | 227-252 | in isoform 2 and isoform 5 | ||
Alternative sequence | VSP_016660 | 405-558 | in isoform 5 | ||
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AY357073 EMBL· GenBank· DDBJ | AAR13670.1 EMBL· GenBank· DDBJ | mRNA | ||
AY690329 EMBL· GenBank· DDBJ | AAW47988.1 EMBL· GenBank· DDBJ | mRNA | ||
AY690330 EMBL· GenBank· DDBJ | AAW47989.1 EMBL· GenBank· DDBJ | mRNA | ||
AY690331 EMBL· GenBank· DDBJ | AAW47990.1 EMBL· GenBank· DDBJ | mRNA | ||
AY690332 EMBL· GenBank· DDBJ | AAW47991.1 EMBL· GenBank· DDBJ | mRNA | ||
AY690333 EMBL· GenBank· DDBJ | AAW47992.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ640141 EMBL· GenBank· DDBJ | CAG26695.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ697855 EMBL· GenBank· DDBJ | CAG26977.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ697856 EMBL· GenBank· DDBJ | CAG26978.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ697858 EMBL· GenBank· DDBJ | CAG26980.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK129976 EMBL· GenBank· DDBJ | BAC85266.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AK293844 EMBL· GenBank· DDBJ | BAG57242.1 EMBL· GenBank· DDBJ | mRNA | ||
AC013733 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC020595 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC137498 EMBL· GenBank· DDBJ | AAI37499.1 EMBL· GenBank· DDBJ | mRNA | ||
BC137499 EMBL· GenBank· DDBJ | AAI37500.1 EMBL· GenBank· DDBJ | mRNA |