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Q9UBY8

- CLN8_HUMAN

UniProt

Q9UBY8 - CLN8_HUMAN

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Protein

Protein CLN8

Gene
CLN8, C8orf61
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. adult walking behavior Source: Ensembl
  2. age-dependent response to oxidative stress Source: Ensembl
  3. associative learning Source: Ensembl
  4. cell death Source: UniProtKB-KW
  5. cellular protein catabolic process Source: Ensembl
  6. ceramide biosynthetic process Source: UniProtKB
  7. ceramide metabolic process Source: UniProtKB
  8. cholesterol metabolic process Source: UniProtKB
  9. L-glutamate uptake involved in synaptic transmission Source: Ensembl
  10. lipid biosynthetic process Source: UniProtKB
  11. lipid transport Source: UniProtKB
  12. lysosome organization Source: Ensembl
  13. mitochondrial membrane organization Source: Ensembl
  14. musculoskeletal movement Source: Ensembl
  15. negative regulation of apoptotic process Source: Ensembl
  16. negative regulation of proteolysis Source: UniProtKB
  17. negative regulation of transferase activity Source: Ensembl
  18. nervous system development Source: UniProtKB
  19. neurofilament cytoskeleton organization Source: Ensembl
  20. neuromuscular process controlling balance Source: Ensembl
  21. neuromuscular process controlling posture Source: Ensembl
  22. phospholipid metabolic process Source: UniProtKB
  23. photoreceptor cell maintenance Source: Ensembl
  24. protein catabolic process Source: UniProtKB
  25. regulation of cell size Source: Ensembl
  26. retina development in camera-type eye Source: Ensembl
  27. social behavior Source: Ensembl
  28. somatic motor neuron differentiation Source: Ensembl
  29. visual perception Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein CLN8
Gene namesi
Name:CLN8
Synonyms:C8orf61
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:2079. CLN8.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei21 – 4121Helical; Reviewed predictionAdd
BLAST
Transmembranei62 – 8423Helical; Reviewed predictionAdd
BLAST
Transmembranei103 – 12321Helical; Reviewed predictionAdd
BLAST
Transmembranei131 – 15121Helical; Reviewed predictionAdd
BLAST
Transmembranei226 – 24621Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum-Golgi intermediate compartment Source: UniProtKB
  3. endoplasmic reticulum-Golgi intermediate compartment membrane Source: UniProtKB-SubCell
  4. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  5. integral component of membrane Source: UniProtKB
  6. mitochondrion Source: GOC
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 8 (CLN8) [MIM:600143]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.6 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → M in CLN8; associated with M-170 on the same allele. 1 Publication
VAR_026554
Natural varianti24 – 241R → G in CLN8NE. 2 Publications
VAR_013174
Natural varianti30 – 301A → P in CLN8. 1 Publication
VAR_060573
Natural varianti61 – 611Missing in CLN8. 1 Publication
VAR_060574
Natural varianti70 – 701R → H in CLN8. 1 Publication
VAR_066920
Natural varianti76 – 761Q → R in CLN8. 1 Publication
VAR_066921
Natural varianti107 – 1071I → S in CLN8. 1 Publication
VAR_066922
Natural varianti125 – 1251N → S in CLN8. 1 Publication
Corresponds to variant rs142269885 [ dbSNP | Ensembl ].
VAR_066923
Natural varianti139 – 1391H → Y in CLN8. 1 Publication
VAR_066924
Natural varianti158 – 1581Y → C in CLN8. 2 Publications
VAR_058438
Natural varianti170 – 1701T → M in CLN8; associated with M-16 on the same allele. 1 Publication
Corresponds to variant rs188259026 [ dbSNP | Ensembl ].
VAR_026555
Natural varianti194 – 1941Q → R in CLN8. 1 Publication
VAR_060575
Natural varianti204 – 2041R → C in CLN8. 1 Publication
VAR_026556
Natural varianti213 – 2131Missing in CLN8. 1 Publication
VAR_066925
Natural varianti221 – 2211G → S in CLN8. 1 Publication
VAR_066926
Natural varianti229 – 2291P → A in CLN8. 1 Publication
Corresponds to variant rs150047904 [ dbSNP | Ensembl ].
VAR_066927
Natural varianti237 – 2371G → R in CLN8. 2 Publications
VAR_058439
Natural varianti263 – 2631W → C in CLN8. 1 Publication
Corresponds to variant rs28940569 [ dbSNP | Ensembl ].
VAR_026557
Natural varianti269 – 2691E → V in CLN8. 1 Publication
VAR_066928
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8NE) [MIM:610003]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241R → G in CLN8NE. 2 Publications
VAR_013174

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi283 – 2842KK → RR: Localizes to the Golgi complex. 1 Publication

Keywords - Diseasei

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

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 286286Protein CLN8PRO_0000185537Add
BLAST

Post-translational modificationi

Does not seem to be N-glycosylated.

Proteomic databases

MaxQBiQ9UBY8.
PaxDbiQ9UBY8.
PRIDEiQ9UBY8.

Expressioni

Gene expression databases

BgeeiQ9UBY8.
CleanExiHS_CLN8.
GenevestigatoriQ9UBY8.

Interactioni

Protein-protein interaction databases

BioGridi108369. 31 interactions.
MINTiMINT-4723430.
STRINGi9606.ENSP00000328182.

Structurei

3D structure databases

ProteinModelPortaliQ9UBY8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini62 – 262201TLCAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi283 – 2864ER-retrieval signal

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG239251.
HOGENOMiHOG000111792.
HOVERGENiHBG028338.
InParanoidiQ9UBY8.
KOiK12360.
OMAiLTYHMWW.
OrthoDBiEOG7MSMPD.
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

MNPASDGGTS ESIFDLDYAS WGIRSTLMVA GFVFYLGVFV VCHQLSSSLN    50
ATYRSLVARE KVFWDLAATR AVFGVQSTAA GLWALLGDPV LHADKARGQQ 100
NWCWFHITTA TGFFCFENVA VHLSNLIFRT FDLFLVIHHL FAFLGFLGCL 150
VNLQAGHYLA MTTLLLEMST PFTCVSWMLL KAGWSESLFW KLNQWLMIHM 200
FHCRMVLTYH MWWVCFWHWD GLVSSLYLPH LTLFLVGLAL LTLIINPYWT 250
HKKTQQLLNP VDWNFAQPEA KSRPEGNGQL LRKKRP 286
Length:286
Mass (Da):32,787
Last modified:April 17, 2007 - v3
Checksum:i1A5995B13E14DCDC
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161L → M in CLN8; associated with M-170 on the same allele. 1 Publication
VAR_026554
Natural varianti24 – 241R → G in CLN8NE. 2 Publications
VAR_013174
Natural varianti30 – 301A → P in CLN8. 1 Publication
VAR_060573
Natural varianti61 – 611Missing in CLN8. 1 Publication
VAR_060574
Natural varianti70 – 701R → H in CLN8. 1 Publication
VAR_066920
Natural varianti76 – 761Q → R in CLN8. 1 Publication
VAR_066921
Natural varianti92 – 921H → Y.
Corresponds to variant rs34030778 [ dbSNP | Ensembl ].
VAR_031704
Natural varianti107 – 1071I → S in CLN8. 1 Publication
VAR_066922
Natural varianti125 – 1251N → S in CLN8. 1 Publication
Corresponds to variant rs142269885 [ dbSNP | Ensembl ].
VAR_066923
Natural varianti139 – 1391H → Y in CLN8. 1 Publication
VAR_066924
Natural varianti155 – 1551A → V.1 Publication
VAR_013175
Natural varianti158 – 1581Y → C in CLN8. 2 Publications
VAR_058438
Natural varianti170 – 1701T → M in CLN8; associated with M-16 on the same allele. 1 Publication
Corresponds to variant rs188259026 [ dbSNP | Ensembl ].
VAR_026555
Natural varianti194 – 1941Q → R in CLN8. 1 Publication
VAR_060575
Natural varianti204 – 2041R → C in CLN8. 1 Publication
VAR_026556
Natural varianti213 – 2131Missing in CLN8. 1 Publication
VAR_066925
Natural varianti221 – 2211G → S in CLN8. 1 Publication
VAR_066926
Natural varianti229 – 2291P → A in CLN8. 1 Publication
Corresponds to variant rs150047904 [ dbSNP | Ensembl ].
VAR_066927
Natural varianti237 – 2371G → R in CLN8. 2 Publications
VAR_058439
Natural varianti263 – 2631W → C in CLN8. 1 Publication
Corresponds to variant rs28940569 [ dbSNP | Ensembl ].
VAR_026557
Natural varianti269 – 2691E → V in CLN8. 1 Publication
VAR_066928

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti225 – 2251S → N in AAF13115. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_005266021.2.
XP_005266079.1. XM_005266022.1.
XP_005266080.1. XM_005266023.1.
XP_005266081.1. XM_005266024.2.
XP_005266082.1. XM_005266025.1.
XP_005266083.1. XM_005266026.2.
XP_005266084.1. XM_005266027.2.
XP_006725816.1. XM_006725753.1.
XP_006725817.1. XM_006725754.1.
XP_006725818.1. XM_006725755.1.
XP_006725819.1. XM_006725756.1.
XP_006725820.1. XM_006725757.1.
XP_006725821.1. XM_006725758.1.
XP_006725822.1. XM_006725759.1.
UniGeneiHs.127675.

Genome annotation databases

EnsembliENST00000331222; ENSP00000328182; ENSG00000182372.
GeneIDi2055.
KEGGihsa:2055.
UCSCiuc003wpo.4. human.

Polymorphism databases

DMDMi145559455.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NCL CLN8

Neural Ceroid Lipofuscinoses mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS5956.1.
RefSeqi NP_061764.2. NM_018941.3.
XP_005266078.1. XM_005266021.2.
XP_005266079.1. XM_005266022.1.
XP_005266080.1. XM_005266023.1.
XP_005266081.1. XM_005266024.2.
XP_005266082.1. XM_005266025.1.
XP_005266083.1. XM_005266026.2.
XP_005266084.1. XM_005266027.2.
XP_006725816.1. XM_006725753.1.
XP_006725817.1. XM_006725754.1.
XP_006725818.1. XM_006725755.1.
XP_006725819.1. XM_006725756.1.
XP_006725820.1. XM_006725757.1.
XP_006725821.1. XM_006725758.1.
XP_006725822.1. XM_006725759.1.
UniGenei Hs.127675.

3D structure databases

ProteinModelPortali Q9UBY8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108369. 31 interactions.
MINTi MINT-4723430.
STRINGi 9606.ENSP00000328182.

Polymorphism databases

DMDMi 145559455.

Proteomic databases

MaxQBi Q9UBY8.
PaxDbi Q9UBY8.
PRIDEi Q9UBY8.

Protocols and materials databases

DNASUi 2055.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000331222 ; ENSP00000328182 ; ENSG00000182372 .
GeneIDi 2055.
KEGGi hsa:2055.
UCSCi uc003wpo.4. human.

Organism-specific databases

CTDi 2055.
GeneCardsi GC08P001699.
GeneReviewsi CLN8.
HGNCi HGNC:2079. CLN8.
MIMi 600143. phenotype.
607837. gene.
610003. phenotype.
neXtProti NX_Q9UBY8.
Orphaneti 228354. CLN8 disease.
1947. Progressive epilepsy - intellectual disability, Finnish type.
PharmGKBi PA26606.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG239251.
HOGENOMi HOG000111792.
HOVERGENi HBG028338.
InParanoidi Q9UBY8.
KOi K12360.
OMAi LTYHMWW.
OrthoDBi EOG7MSMPD.
PhylomeDBi Q9UBY8.
TreeFami TF331146.

Miscellaneous databases

ChiTaRSi CLN8. human.
GeneWikii CLN8.
GenomeRNAii 2055.
NextBioi 8357.
PROi Q9UBY8.
SOURCEi Search...

Gene expression databases

Bgeei Q9UBY8.
CleanExi HS_CLN8.
Genevestigatori Q9UBY8.

Family and domain databases

InterProi IPR006634. TLC-dom.
[Graphical view ]
Pfami PF03798. TRAM_LAG1_CLN8. 1 hit.
[Graphical view ]
SMARTi SM00724. TLC. 1 hit.
[Graphical view ]
PROSITEi PS50922. TLC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8."
    Ranta S., Zhang Y., Ross B., Lonka L., Takkunen E., Messer A., Sharp J., Wheeler R., Kusumi K., Mole S., Liu W., Soares M.B., Bonaldo M.F., Hirvasniemi A., de la Chapelle A., Gilliam T.C., Lehesjoki A.-E.
    Nat. Genet. 23:233-236(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CLN8NE GLY-24, VARIANT VAL-155.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Uterus.
  4. "The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum."
    Lonka L., Kyttaelae A., Ranta S., Jalanko A., Lehesjoki A.-E.
    Hum. Mol. Genet. 9:1691-1697(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 283-LYS-LYS-284.
  5. "Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy."
    Ranta S., Topcu M., Tegelberg S., Tan H., Uestuebuetuen A., Saatci I., Dufke A., Enders H., Pohl K., Alembik Y., Mitchell W.A., Mole S.E., Lehesjoki A.-E.
    Hum. Mutat. 23:300-305(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN8 MET-16; MET-170; CYS-204 AND CYS-263.
  6. "Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean."
    Cannelli N., Cassandrini D., Bertini E., Striano P., Fusco L., Gaggero R., Specchio N., Biancheri R., Vigevano F., Bruno C., Simonati A., Zara F., Santorelli F.M.
    Neurogenetics 7:111-117(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN8 PRO-30; CYS-158 AND ARG-194.
  7. "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."
    Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M., Yuksel D., Gokben S., Minassian B.A., Elleder M., Mole S.E., Lehesjoki A.-E.
    Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN8 CYS-158 AND ARG-237.
  8. "A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function."
    Vantaggiato C., Redaelli F., Falcone S., Perrotta C., Tonelli A., Bondioni S., Morbin M., Riva D., Saletti V., Bonaglia M.C., Giorda R., Bresolin N., Clementi E., Bassi M.T.
    Hum. Mutat. 30:1104-1116(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CLN8 LYS-61 DEL, FUNCTION.
  9. "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
    Kousi M., Lehesjoki A.E., Mole S.E.
    Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN8 HIS-70; ARG-76; SER-107; SER-125; TYR-139; TRP-213 DEL; SER-221; ALA-229; ARG-237 AND VAL-269, VARIANT CLN8NE GLY-24.

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: July 9, 2014
This is version 125 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

External Data

Dasty 3

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