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Protein

Protein CLN8

Gene

CLN8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Could play a role in cell proliferation during neuronal differentiation and in protection against cell death.1 Publication

GO - Biological processi

  • ceramide biosynthetic process Source: UniProtKB
  • ceramide metabolic process Source: UniProtKB
  • cholesterol metabolic process Source: UniProtKB
  • lipid biosynthetic process Source: UniProtKB
  • lipid transport Source: UniProtKB
  • negative regulation of proteolysis Source: UniProtKB
  • nervous system development Source: UniProtKB
  • phospholipid metabolic process Source: UniProtKB
  • protein catabolic process Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:G66-32767-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CLN8
Gene namesi
Name:CLN8
Synonyms:C8orf61
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:2079. CLN8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei21 – 41HelicalSequence analysisAdd BLAST21
Transmembranei62 – 84HelicalSequence analysisAdd BLAST23
Transmembranei103 – 123HelicalSequence analysisAdd BLAST21
Transmembranei131 – 151HelicalSequence analysisAdd BLAST21
Transmembranei226 – 246HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  • endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
  • endoplasmic reticulum membrane Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 8 (CLN8)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
See also OMIM:600143
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02655416L → M in CLN8; associated with M-170 on the same allele. 1 PublicationCorresponds to variant rs386834129dbSNPEnsembl.1
Natural variantiVAR_01317424R → G in CLN8NE. 2 PublicationsCorresponds to variant rs104894064dbSNPEnsembl.1
Natural variantiVAR_06057330A → P in CLN8. 1 PublicationCorresponds to variant rs137852883dbSNPEnsembl.1
Natural variantiVAR_06057461Missing in CLN8. 1 Publication1
Natural variantiVAR_06692070R → H in CLN8. 1 PublicationCorresponds to variant rs386834124dbSNPEnsembl.1
Natural variantiVAR_06692176Q → R in CLN8. 1 PublicationCorresponds to variant rs386834125dbSNPEnsembl.1
Natural variantiVAR_066922107I → S in CLN8. 1 PublicationCorresponds to variant rs386834126dbSNPEnsembl.1
Natural variantiVAR_066923125N → S in CLN8. 1 PublicationCorresponds to variant rs142269885dbSNPEnsembl.1
Natural variantiVAR_066924139H → Y in CLN8. 1 PublicationCorresponds to variant rs386834127dbSNPEnsembl.1
Natural variantiVAR_058438158Y → C in CLN8. 2 PublicationsCorresponds to variant rs386834130dbSNPEnsembl.1
Natural variantiVAR_026555170T → M in CLN8; associated with M-16 on the same allele. 1 PublicationCorresponds to variant rs188259026dbSNPEnsembl.1
Natural variantiVAR_060575194Q → R in CLN8. 1 PublicationCorresponds to variant rs386834133dbSNPEnsembl.1
Natural variantiVAR_026556204R → C in CLN8. 1 PublicationCorresponds to variant rs104894060dbSNPEnsembl.1
Natural variantiVAR_075367204R → L in CLN8. 1 PublicationCorresponds to variant rs386834134dbSNPEnsembl.1
Natural variantiVAR_075368207L → R in CLN8; unknown pathological significance. 1 PublicationCorresponds to variant rs781166361dbSNPEnsembl.1
Natural variantiVAR_066925213Missing in CLN8. 1 Publication1
Natural variantiVAR_066926221G → S in CLN8. 1 PublicationCorresponds to variant rs386834136dbSNPEnsembl.1
Natural variantiVAR_066927229P → A in CLN8. 1 PublicationCorresponds to variant rs150047904dbSNPEnsembl.1
Natural variantiVAR_058439237G → R in CLN8. 3 PublicationsCorresponds to variant rs746645358dbSNPEnsembl.1
Natural variantiVAR_026557263W → C in CLN8. 1 PublicationCorresponds to variant rs28940569dbSNPEnsembl.1
Natural variantiVAR_066928269E → V in CLN8. 1 PublicationCorresponds to variant rs139003032dbSNPEnsembl.1
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.
See also OMIM:610003
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01317424R → G in CLN8NE. 2 PublicationsCorresponds to variant rs104894064dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi283 – 284KK → RR: Localizes to the Golgi complex. 1 Publication2

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNETi2055.
MalaCardsiCLN8.
MIMi600143. phenotype.
610003. phenotype.
OpenTargetsiENSG00000182372.
ENSG00000278220.
Orphaneti228354. CLN8 disease.
1947. Progressive epilepsy - intellectual disability, Finnish type.
PharmGKBiPA26606.

Polymorphism and mutation databases

BioMutaiCLN8.
DMDMi145559455.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001855371 – 286Protein CLN8Add BLAST286

Post-translational modificationi

Does not seem to be N-glycosylated.

Proteomic databases

EPDiQ9UBY8.
MaxQBiQ9UBY8.
PaxDbiQ9UBY8.
PeptideAtlasiQ9UBY8.
PRIDEiQ9UBY8.

PTM databases

PhosphoSitePlusiQ9UBY8.

Expressioni

Gene expression databases

BgeeiENSG00000182372.
CleanExiHS_CLN8.
ExpressionAtlasiQ9UBY8. baseline and differential.
GenevisibleiQ9UBY8. HS.

Interactioni

Subunit structurei

Interacts with CLN5.By similarity

Protein-protein interaction databases

BioGridi108369. 30 interactors.
MINTiMINT-4723430.
STRINGi9606.ENSP00000328182.

Structurei

3D structure databases

ProteinModelPortaliQ9UBY8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini62 – 262TLCPROSITE-ProRule annotationAdd BLAST201

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi283 – 286ER-retrieval signal4

Sequence similaritiesi

Contains 1 TLC (TRAM/LAG1/CLN8) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4561. Eukaryota.
ENOG410XPW0. LUCA.
GeneTreeiENSGT00390000001315.
HOGENOMiHOG000111792.
HOVERGENiHBG028338.
InParanoidiQ9UBY8.
KOiK12360.
OMAiFHCRMVL.
OrthoDBiEOG091G0DG9.
PhylomeDBiQ9UBY8.
TreeFamiTF331146.

Family and domain databases

InterProiIPR006634. TLC-dom.
[Graphical view]
PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
PROSITEiPS50922. TLC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UBY8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN
60 70 80 90 100
ATYRSLVARE KVFWDLAATR AVFGVQSTAA GLWALLGDPV LHADKARGQQ
110 120 130 140 150
NWCWFHITTA TGFFCFENVA VHLSNLIFRT FDLFLVIHHL FAFLGFLGCL
160 170 180 190 200
VNLQAGHYLA MTTLLLEMST PFTCVSWMLL KAGWSESLFW KLNQWLMIHM
210 220 230 240 250
FHCRMVLTYH MWWVCFWHWD GLVSSLYLPH LTLFLVGLAL LTLIINPYWT
260 270 280
HKKTQQLLNP VDWNFAQPEA KSRPEGNGQL LRKKRP
Length:286
Mass (Da):32,787
Last modified:April 17, 2007 - v3
Checksum:i1A5995B13E14DCDC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti225S → N in AAF13115 (PubMed:10508524).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02655416L → M in CLN8; associated with M-170 on the same allele. 1 PublicationCorresponds to variant rs386834129dbSNPEnsembl.1
Natural variantiVAR_01317424R → G in CLN8NE. 2 PublicationsCorresponds to variant rs104894064dbSNPEnsembl.1
Natural variantiVAR_06057330A → P in CLN8. 1 PublicationCorresponds to variant rs137852883dbSNPEnsembl.1
Natural variantiVAR_06057461Missing in CLN8. 1 Publication1
Natural variantiVAR_06692070R → H in CLN8. 1 PublicationCorresponds to variant rs386834124dbSNPEnsembl.1
Natural variantiVAR_06692176Q → R in CLN8. 1 PublicationCorresponds to variant rs386834125dbSNPEnsembl.1
Natural variantiVAR_03170492H → Y.Corresponds to variant rs34030778dbSNPEnsembl.1
Natural variantiVAR_066922107I → S in CLN8. 1 PublicationCorresponds to variant rs386834126dbSNPEnsembl.1
Natural variantiVAR_066923125N → S in CLN8. 1 PublicationCorresponds to variant rs142269885dbSNPEnsembl.1
Natural variantiVAR_066924139H → Y in CLN8. 1 PublicationCorresponds to variant rs386834127dbSNPEnsembl.1
Natural variantiVAR_013175155A → V.1 PublicationCorresponds to variant rs386834128dbSNPEnsembl.1
Natural variantiVAR_058438158Y → C in CLN8. 2 PublicationsCorresponds to variant rs386834130dbSNPEnsembl.1
Natural variantiVAR_026555170T → M in CLN8; associated with M-16 on the same allele. 1 PublicationCorresponds to variant rs188259026dbSNPEnsembl.1
Natural variantiVAR_060575194Q → R in CLN8. 1 PublicationCorresponds to variant rs386834133dbSNPEnsembl.1
Natural variantiVAR_026556204R → C in CLN8. 1 PublicationCorresponds to variant rs104894060dbSNPEnsembl.1
Natural variantiVAR_075367204R → L in CLN8. 1 PublicationCorresponds to variant rs386834134dbSNPEnsembl.1
Natural variantiVAR_075368207L → R in CLN8; unknown pathological significance. 1 PublicationCorresponds to variant rs781166361dbSNPEnsembl.1
Natural variantiVAR_066925213Missing in CLN8. 1 Publication1
Natural variantiVAR_066926221G → S in CLN8. 1 PublicationCorresponds to variant rs386834136dbSNPEnsembl.1
Natural variantiVAR_066927229P → A in CLN8. 1 PublicationCorresponds to variant rs150047904dbSNPEnsembl.1
Natural variantiVAR_058439237G → R in CLN8. 3 PublicationsCorresponds to variant rs746645358dbSNPEnsembl.1
Natural variantiVAR_026557263W → C in CLN8. 1 PublicationCorresponds to variant rs28940569dbSNPEnsembl.1
Natural variantiVAR_066928269E → V in CLN8. 1 PublicationCorresponds to variant rs139003032dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF123757 mRNA. Translation: AAF13115.1.
AF123758 mRNA. Translation: AAF13116.1.
AF123759 mRNA. Translation: AAF13117.1.
AF123760 mRNA. Translation: AAF13118.1.
AF123761 mRNA. Translation: AAF13119.1.
BT007049 mRNA. Translation: AAP35698.1.
BC007725 mRNA. Translation: AAH07725.1.
CCDSiCCDS5956.1.
RefSeqiNP_061764.2. NM_018941.3.
XP_005266078.1. XM_005266021.3.
XP_005266079.1. XM_005266022.1.
XP_005266080.1. XM_005266023.1.
XP_011533047.1. XM_011534745.1.
XP_011533048.1. XM_011534746.2.
UniGeneiHs.127675.

Genome annotation databases

EnsembliENST00000331222; ENSP00000328182; ENSG00000182372.
ENST00000519254; ENSP00000490016; ENSG00000182372.
ENST00000619400; ENSP00000482713; ENSG00000278220.
ENST00000635751; ENSP00000489694; ENSG00000182372.
ENST00000635970; ENSP00000490439; ENSG00000182372.
ENST00000637083; ENSP00000490235; ENSG00000182372.
ENST00000637156; ENSP00000490458; ENSG00000182372.
GeneIDi2055.
KEGGihsa:2055.
UCSCiuc003wpo.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NCL CLN8

Neural Ceroid Lipofuscinoses mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF123757 mRNA. Translation: AAF13115.1.
AF123758 mRNA. Translation: AAF13116.1.
AF123759 mRNA. Translation: AAF13117.1.
AF123760 mRNA. Translation: AAF13118.1.
AF123761 mRNA. Translation: AAF13119.1.
BT007049 mRNA. Translation: AAP35698.1.
BC007725 mRNA. Translation: AAH07725.1.
CCDSiCCDS5956.1.
RefSeqiNP_061764.2. NM_018941.3.
XP_005266078.1. XM_005266021.3.
XP_005266079.1. XM_005266022.1.
XP_005266080.1. XM_005266023.1.
XP_011533047.1. XM_011534745.1.
XP_011533048.1. XM_011534746.2.
UniGeneiHs.127675.

3D structure databases

ProteinModelPortaliQ9UBY8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108369. 30 interactors.
MINTiMINT-4723430.
STRINGi9606.ENSP00000328182.

PTM databases

PhosphoSitePlusiQ9UBY8.

Polymorphism and mutation databases

BioMutaiCLN8.
DMDMi145559455.

Proteomic databases

EPDiQ9UBY8.
MaxQBiQ9UBY8.
PaxDbiQ9UBY8.
PeptideAtlasiQ9UBY8.
PRIDEiQ9UBY8.

Protocols and materials databases

DNASUi2055.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331222; ENSP00000328182; ENSG00000182372.
ENST00000519254; ENSP00000490016; ENSG00000182372.
ENST00000619400; ENSP00000482713; ENSG00000278220.
ENST00000635751; ENSP00000489694; ENSG00000182372.
ENST00000635970; ENSP00000490439; ENSG00000182372.
ENST00000637083; ENSP00000490235; ENSG00000182372.
ENST00000637156; ENSP00000490458; ENSG00000182372.
GeneIDi2055.
KEGGihsa:2055.
UCSCiuc003wpo.5. human.

Organism-specific databases

CTDi2055.
DisGeNETi2055.
GeneCardsiCLN8.
GeneReviewsiCLN8.
HGNCiHGNC:2079. CLN8.
MalaCardsiCLN8.
MIMi600143. phenotype.
607837. gene.
610003. phenotype.
neXtProtiNX_Q9UBY8.
OpenTargetsiENSG00000182372.
ENSG00000278220.
Orphaneti228354. CLN8 disease.
1947. Progressive epilepsy - intellectual disability, Finnish type.
PharmGKBiPA26606.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4561. Eukaryota.
ENOG410XPW0. LUCA.
GeneTreeiENSGT00390000001315.
HOGENOMiHOG000111792.
HOVERGENiHBG028338.
InParanoidiQ9UBY8.
KOiK12360.
OMAiFHCRMVL.
OrthoDBiEOG091G0DG9.
PhylomeDBiQ9UBY8.
TreeFamiTF331146.

Enzyme and pathway databases

BioCyciZFISH:G66-32767-MONOMER.

Miscellaneous databases

ChiTaRSiCLN8. human.
GeneWikiiCLN8.
GenomeRNAii2055.
PROiQ9UBY8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182372.
CleanExiHS_CLN8.
ExpressionAtlasiQ9UBY8. baseline and differential.
GenevisibleiQ9UBY8. HS.

Family and domain databases

InterProiIPR006634. TLC-dom.
[Graphical view]
PfamiPF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view]
SMARTiSM00724. TLC. 1 hit.
[Graphical view]
PROSITEiPS50922. TLC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCLN8_HUMAN
AccessioniPrimary (citable) accession number: Q9UBY8
Secondary accession number(s): Q86U71, Q96I95
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: April 17, 2007
Last modified: November 2, 2016
This is version 143 of the entry and version 3 of the sequence. [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 8
    Human chromosome 8: 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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.