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Protein

Ceramide kinase-like protein

Gene

CERKL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Has no detectable ceramide-kinase activity. Overexpression of CERKL protects cells from apoptosis in oxidative stress conditions.2 Publications

GO - Molecular functioni

GO - Biological processi

  • negative regulation of apoptotic process Source: UniProtKB
  • sphingolipid biosynthetic process Source: Ensembl

Names & Taxonomyi

Protein namesi
Recommended name:
Ceramide kinase-like protein
Gene namesi
Name:CERKL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000188452.13
HGNCiHGNC:21699 CERKL
MIMi608381 gene
neXtProtiNX_Q49MI3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Nucleus

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 26 (RP26)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:608380
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065182106R → S in RP26. 1 PublicationCorresponds to variant dbSNP:rs569826109EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi104 – 106KRR → GGG: Only cytoplasmic. 1 Publication3
Mutagenesisi260G → D: Loss of nuclear localization; in isoform 2. 1 Publication1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi375298
GeneReviewsiCERKL
MalaCardsiCERKL
MIMi608380 phenotype
OpenTargetsiENSG00000188452
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA134984780

Polymorphism and mutation databases

BioMutaiCERKL
DMDMi84028814

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001813561 – 558Ceramide kinase-like proteinAdd BLAST558

Post-translational modificationi

Phosphorylated on serine residues.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ49MI3
PeptideAtlasiQ49MI3
PRIDEiQ49MI3
ProteomicsDBi62075
62076 [Q49MI3-2]
62077 [Q49MI3-3]
62078 [Q49MI3-4]
62079 [Q49MI3-5]
62080 [Q49MI3-7]
62081 [Q49MI3-8]
62082 [Q49MI3-9]

PTM databases

iPTMnetiQ49MI3
PhosphoSitePlusiQ49MI3

Expressioni

Tissue specificityi

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.3 Publications

Developmental stagei

Expressed in fetal lung, kidney and brain.1 Publication

Gene expression databases

BgeeiENSG00000188452 Expressed in 89 organ(s), highest expression level in leukocyte

Organism-specific databases

HPAiHPA035443
HPA035444
HPA043203

Interactioni

Protein-protein interaction databases

BioGridi131968, 11 interactors
STRINGi9606.ENSP00000341159

Structurei

3D structure databases

ProteinModelPortaliQ49MI3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini164 – 339DAGKcPROSITE-ProRule annotationAdd BLAST176

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2 – 9Nuclear localization signal 1Sequence analysis8
Motifi102 – 106Nuclear localization signal 25

Phylogenomic databases

eggNOGiKOG1115 Eukaryota
KOG1116 Eukaryota
COG1597 LUCA
GeneTreeiENSGT00690000101761
HOGENOMiHOG000231784
HOVERGENiHBG102265
InParanoidiQ49MI3
KOiK19602
OMAiDVTITEY
OrthoDBiEOG091G0FFW
PhylomeDBiQ49MI3
TreeFamiTF314514

Family and domain databases

Gene3Di3.40.50.10330, 1 hit
InterProiView protein in InterPro
IPR017438 ATP-NAD_kinase_N
IPR001206 Diacylglycerol_kinase_cat_dom
IPR016064 NAD/diacylglycerol_kinase_sf
PfamiView protein in Pfam
PF00781 DAGK_cat, 1 hit
SUPFAMiSSF111331 SSF111331, 1 hit
PROSITEiView protein in PROSITE
PS50146 DAGK, 1 hit

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q49MI3-1) [UniParc]FASTAAdd to basket
Also known as: b

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.

« Hide
        10         20         30         40         50
MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG
60 70 80 90 100
IFEIGRDSCD VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS
110 120 130 140 150
VKLKRRCSVK QQRSGTLLGI TLFICLKKEQ NKLKNSTLDL INLSEDHCDI
160 170 180 190 200
WFRQFKKILA GFPNRPKSLK ILLNPQSHKK EATQVYYEKV EPLLKLAGIK
210 220 230 240 250
TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ RLFTGMQTLE
260 270 280 290 300
PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG
310 320 330 340 350
STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF
360 370 380 390 400
GFGGRTLALA EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD
410 420 430 440 450
VQERRAQGSP KSDCNDQWQM IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL
460 470 480 490 500
NNGSMALIIA RNTSRPEFIK HLKRYASVKN QFNFPFVETY TVEEVKVHPR
510 520 530 540 550
NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL HPRLISLYGG

SMEEMIPK
Length:558
Mass (Da):62,622
Last modified:September 13, 2005 - v1
Checksum:i305B6BB82CE977CB
GO
Isoform 2 (identifier: Q49MI3-2) [UniParc]FASTAAdd to basket
Also known as: a

The sequence of this isoform differs from the canonical sequence as follows:
     227-252: Missing.

Show »
Length:532
Mass (Da):59,603
Checksum:iC73E590F7C25EED1
GO
Isoform 3 (identifier: Q49MI3-3) [UniParc]FASTAAdd to basket
Also known as: d

The sequence of this isoform differs from the canonical sequence as follows:
     205-300: IMEYEGHALS...QLPLGLIPAG → R

Show »
Length:463
Mass (Da):52,445
Checksum:i36F0E7DC8396890A
GO
Isoform 4 (identifier: Q49MI3-4) [UniParc]FASTAAdd to basket
Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     160-298: Missing.

Show »
Length:419
Mass (Da):47,370
Checksum:i26CAF6FA94820DF0
GO
Isoform 5 (identifier: Q49MI3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-252: Missing.
     405-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:378
Mass (Da):42,209
Checksum:i2372D50CA3BA00EA
GO
Isoform 7 (identifier: Q49MI3-7) [UniParc]FASTAAdd to basket
Also known as: f

The sequence of this isoform differs from the canonical sequence as follows:
     205-217: IMEYEGHALSLLK → MLSVLVEMDLLAK
     218-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:217
Mass (Da):24,836
Checksum:iCA3A37FC7F29CF7A
GO
Isoform 8 (identifier: Q49MI3-8) [UniParc]FASTAAdd to basket
Also known as: e

The sequence of this isoform differs from the canonical sequence as follows:
     161-173: GFPNRPKSLKILL → VLSVLVEMDLLAK
     174-558: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:173
Mass (Da):19,828
Checksum:i184DD8A7AF71BF41
GO
Isoform 9 (identifier: Q49MI3-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-205: GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTI → V

Show »
Length:514
Mass (Da):57,632
Checksum:i012117C9A56696B1
GO

Sequence cautioni

The sequence BAC85266 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
The sequence CAG26980 differs from that shown. Reason: Frameshift at several positions.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti129E → D in CAG26980 (PubMed:15708351).Curated1
Sequence conflicti178H → R in CAG26978 (PubMed:15708351).Curated1
Sequence conflicti210G → E in CAG26977 (PubMed:15708351).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065182106R → S in RP26. 1 PublicationCorresponds to variant dbSNP:rs569826109EnsemblClinVar.1
Natural variantiVAR_053688232L → F. Corresponds to variant dbSNP:rs10185262Ensembl.1
Natural variantiVAR_053689514E → G. Corresponds to variant dbSNP:rs35955809Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016653160 – 298Missing in isoform 4. 1 PublicationAdd BLAST139
Alternative sequenceiVSP_042663161 – 205GFPNR…TDVTI → V in isoform 9. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_016654161 – 173GFPNR…LKILL → VLSVLVEMDLLAK in isoform 8. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_016655174 – 558Missing in isoform 8. 2 PublicationsAdd BLAST385
Alternative sequenceiVSP_016656205 – 300IMEYE…LIPAG → R in isoform 3. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_016657205 – 217IMEYE…LSLLK → MLSVLVEMDLLAK in isoform 7. 3 PublicationsAdd BLAST13
Alternative sequenceiVSP_016658218 – 558Missing in isoform 7. 3 PublicationsAdd BLAST341
Alternative sequenceiVSP_016659227 – 252Missing in isoform 2 and isoform 5. 3 PublicationsAdd BLAST26
Alternative sequenceiVSP_016660405 – 558Missing in isoform 5. 1 PublicationAdd BLAST154

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY357073 mRNA Translation: AAR13670.1
AY690329 mRNA Translation: AAW47988.1
AY690330 mRNA Translation: AAW47989.1
AY690331 mRNA Translation: AAW47990.1
AY690332 mRNA Translation: AAW47991.1
AY690333 mRNA Translation: AAW47992.1
AJ640141 mRNA Translation: CAG26695.1
AJ697855 mRNA Translation: CAG26977.1
AJ697856 mRNA Translation: CAG26978.1
AJ697858 mRNA Translation: CAG26980.1 Frameshift.
AK129976 mRNA Translation: BAC85266.1 Sequence problems.
AK293844 mRNA Translation: BAG57242.1
AC013733 Genomic DNA No translation available.
AC020595 Genomic DNA No translation available.
BC137498 mRNA Translation: AAI37499.1
BC137499 mRNA Translation: AAI37500.1
CCDSiCCDS33340.1 [Q49MI3-4]
CCDS33341.1 [Q49MI3-3]
CCDS42789.1 [Q49MI3-1]
CCDS46466.1 [Q49MI3-2]
CCDS54425.1 [Q49MI3-9]
RefSeqiNP_001025482.1, NM_001030311.2 [Q49MI3-1]
NP_001025483.1, NM_001030312.2 [Q49MI3-4]
NP_001025484.1, NM_001030313.2 [Q49MI3-3]
NP_001153749.1, NM_001160277.1 [Q49MI3-9]
NP_963842.1, NM_201548.4 [Q49MI3-2]
UniGeneiHs.732358

Genome annotation databases

EnsembliENST00000339098; ENSP00000341159; ENSG00000188452 [Q49MI3-1]
ENST00000374967; ENSP00000364106; ENSG00000188452 [Q49MI3-7]
ENST00000374969; ENSP00000364108; ENSG00000188452 [Q49MI3-4]
ENST00000374970; ENSP00000364109; ENSG00000188452 [Q49MI3-3]
ENST00000409440; ENSP00000387080; ENSG00000188452 [Q49MI3-9]
ENST00000410087; ENSP00000386725; ENSG00000188452 [Q49MI3-2]
ENST00000421817; ENSP00000411466; ENSG00000188452 [Q49MI3-8]
ENST00000452174; ENSP00000409198; ENSG00000188452 [Q49MI3-8]
GeneIDi375298
KEGGihsa:375298
UCSCiuc002unx.4 human [Q49MI3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY357073 mRNA Translation: AAR13670.1
AY690329 mRNA Translation: AAW47988.1
AY690330 mRNA Translation: AAW47989.1
AY690331 mRNA Translation: AAW47990.1
AY690332 mRNA Translation: AAW47991.1
AY690333 mRNA Translation: AAW47992.1
AJ640141 mRNA Translation: CAG26695.1
AJ697855 mRNA Translation: CAG26977.1
AJ697856 mRNA Translation: CAG26978.1
AJ697858 mRNA Translation: CAG26980.1 Frameshift.
AK129976 mRNA Translation: BAC85266.1 Sequence problems.
AK293844 mRNA Translation: BAG57242.1
AC013733 Genomic DNA No translation available.
AC020595 Genomic DNA No translation available.
BC137498 mRNA Translation: AAI37499.1
BC137499 mRNA Translation: AAI37500.1
CCDSiCCDS33340.1 [Q49MI3-4]
CCDS33341.1 [Q49MI3-3]
CCDS42789.1 [Q49MI3-1]
CCDS46466.1 [Q49MI3-2]
CCDS54425.1 [Q49MI3-9]
RefSeqiNP_001025482.1, NM_001030311.2 [Q49MI3-1]
NP_001025483.1, NM_001030312.2 [Q49MI3-4]
NP_001025484.1, NM_001030313.2 [Q49MI3-3]
NP_001153749.1, NM_001160277.1 [Q49MI3-9]
NP_963842.1, NM_201548.4 [Q49MI3-2]
UniGeneiHs.732358

3D structure databases

ProteinModelPortaliQ49MI3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131968, 11 interactors
STRINGi9606.ENSP00000341159

PTM databases

iPTMnetiQ49MI3
PhosphoSitePlusiQ49MI3

Polymorphism and mutation databases

BioMutaiCERKL
DMDMi84028814

Proteomic databases

PaxDbiQ49MI3
PeptideAtlasiQ49MI3
PRIDEiQ49MI3
ProteomicsDBi62075
62076 [Q49MI3-2]
62077 [Q49MI3-3]
62078 [Q49MI3-4]
62079 [Q49MI3-5]
62080 [Q49MI3-7]
62081 [Q49MI3-8]
62082 [Q49MI3-9]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339098; ENSP00000341159; ENSG00000188452 [Q49MI3-1]
ENST00000374967; ENSP00000364106; ENSG00000188452 [Q49MI3-7]
ENST00000374969; ENSP00000364108; ENSG00000188452 [Q49MI3-4]
ENST00000374970; ENSP00000364109; ENSG00000188452 [Q49MI3-3]
ENST00000409440; ENSP00000387080; ENSG00000188452 [Q49MI3-9]
ENST00000410087; ENSP00000386725; ENSG00000188452 [Q49MI3-2]
ENST00000421817; ENSP00000411466; ENSG00000188452 [Q49MI3-8]
ENST00000452174; ENSP00000409198; ENSG00000188452 [Q49MI3-8]
GeneIDi375298
KEGGihsa:375298
UCSCiuc002unx.4 human [Q49MI3-1]

Organism-specific databases

CTDi375298
DisGeNETi375298
EuPathDBiHostDB:ENSG00000188452.13
GeneCardsiCERKL
GeneReviewsiCERKL
HGNCiHGNC:21699 CERKL
HPAiHPA035443
HPA035444
HPA043203
MalaCardsiCERKL
MIMi608380 phenotype
608381 gene
neXtProtiNX_Q49MI3
OpenTargetsiENSG00000188452
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA134984780
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1115 Eukaryota
KOG1116 Eukaryota
COG1597 LUCA
GeneTreeiENSGT00690000101761
HOGENOMiHOG000231784
HOVERGENiHBG102265
InParanoidiQ49MI3
KOiK19602
OMAiDVTITEY
OrthoDBiEOG091G0FFW
PhylomeDBiQ49MI3
TreeFamiTF314514

Miscellaneous databases

ChiTaRSiCERKL human
GenomeRNAii375298
PROiPR:Q49MI3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000188452 Expressed in 89 organ(s), highest expression level in leukocyte

Family and domain databases

Gene3Di3.40.50.10330, 1 hit
InterProiView protein in InterPro
IPR017438 ATP-NAD_kinase_N
IPR001206 Diacylglycerol_kinase_cat_dom
IPR016064 NAD/diacylglycerol_kinase_sf
PfamiView protein in Pfam
PF00781 DAGK_cat, 1 hit
SUPFAMiSSF111331 SSF111331, 1 hit
PROSITEiView protein in PROSITE
PS50146 DAGK, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCERKL_HUMAN
AccessioniPrimary (citable) accession number: Q49MI3
Secondary accession number(s): B2RPL2
, B4DEY1, Q49MH9, Q49MI0, Q49MI1, Q49MI2, Q5DVJ2, Q5DVJ4, Q5DVJ5, Q6UZF6, Q6ZP59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: September 13, 2005
Last modified: November 7, 2018
This is version 115 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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