Version 5.4
| Homo sapiens Gene: CERKL | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-76736.6 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | CERKL | ||||||||
| Gene Name | ceramide kinase-like | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000188452 | ||||||||
| Encoded Proteins |
ceramide kinase-like
ceramide kinase-like
ceramide kinase-like
ceramide kinase-like
ceramide kinase-like
ceramide kinase-like
ceramide kinase-like
ceramide kinase-like
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| 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] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 2:181536676-181680665 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | q31.3 | ||||||||
| Transcripts | |||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||
| SwissProt | Q49MI3 | ||||||||
| TrEMBL | G0XYD8 G0XYE7 G0XYE8 Q5DVJ3 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 375298 | ||||||||
| UniGene | |||||||||
| RefSeq | NM_001030311 NM_001030312 NM_001030313 NM_001160277 NM_201548 | ||||||||
| HUGO | HGNC:21699 | ||||||||
| OMIM | 608381 | ||||||||
| CCDS | CCDS33340 CCDS33341 CCDS42789 CCDS46466 CCDS54425 | ||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | AC013733 AC020595 AJ640141 AJ697855 AJ697856 AJ697857 AJ697858 AK129976 AK293844 AY357073 AY690329 AY690330 AY690331 AY690332 AY690333 BC137498 BC137499 CH471058 HQ426666 HQ426667 HQ426668 HQ426669 HQ426670 HQ426671 HQ426672 HQ426673 HQ426674 HQ426675 HQ426676 HQ426677 HQ426678 HQ426679 JF290420 | ||||||||
| GenPept | AAI37499 AAI37500 AAR13670 AAW47988 AAW47989 AAW47990 AAW47991 AAW47992 AEC33276 AEK85686 AEK85687 AEK85688 AEK85689 AEK85690 AEK85692 AEK85693 AEK85694 AEK85695 AEK85696 AEK85697 AEK85698 AEK85699 AEK85700 BAC85266 BAG57242 CAG26695 CAG26977 CAG26978 CAG26979 CAG26980 EAX10984 | ||||||||
| RNA Seq Atlas | 375298 | ||||||||