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Q9NWW5

- CLN6_HUMAN

UniProt

Q9NWW5 - CLN6_HUMAN

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Protein
Ceroid-lipofuscinosis neuronal protein 6
Gene
CLN6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. protein binding Source: UniProtKB
  2. protein homodimerization activity Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cellular macromolecule catabolic process Source: Ensembl
  3. cholesterol metabolic process Source: UniProtKB
  4. ganglioside metabolic process Source: UniProtKB
  5. glycosaminoglycan metabolic process Source: UniProtKB
  6. locomotion involved in locomotory behavior Source: Ensembl
  7. lysosomal lumen acidification Source: UniProtKB
  8. positive regulation of proteolysis Source: UniProtKB
  9. protein catabolic process Source: UniProtKB
  10. visual perception Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Ceroid-lipofuscinosis neuronal protein 6
Short name:
Protein CLN6
Gene namesi
Name:CLN6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:2077. CLN6.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei56 – 7621Helical; Reviewed prediction
Add
BLAST
Transmembranei81 – 10121Helical; Reviewed prediction
Add
BLAST
Transmembranei111 – 13121Helical; Reviewed prediction
Add
BLAST
Transmembranei179 – 19921Helical; Reviewed prediction
Add
BLAST
Transmembranei204 – 22421Helical; Reviewed prediction
Add
BLAST
Transmembranei225 – 24521Helical; Reviewed prediction
Add
BLAST
Transmembranei260 – 28021Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum lumen Source: UniProtKB
  3. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  4. integral component of membrane Source: UniProtKB
  5. intracellular membrane-bounded organelle Source: HPA
  6. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]: A form of neuronal ceroid lipofuscinosis. 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 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Note: The disease is caused by mutations affecting the gene represented in this entry.7 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121A → T in CLN6. 1 Publication
VAR_066904
Natural varianti17 – 171G → S in CLN6. 1 Publication
VAR_066905
Natural varianti62 – 621R → H in CLN6. 1 Publication
VAR_021549
Natural varianti72 – 721E → Q in CLN6. 1 Publication
Corresponds to variant rs104894483 [ dbSNP | Ensembl ].
VAR_021550
Natural varianti90 – 901N → K in CLN6. 1 Publication
VAR_066906
Natural varianti104 – 1041S → F in CLN6. 1 Publication
VAR_066907
Natural varianti123 – 1231G → D in CLN6. 1 Publication
Corresponds to variant rs28939384 [ dbSNP | Ensembl ].
VAR_015683
Natural varianti149 – 1491R → C in CLN6. 1 Publication
VAR_066908
Natural varianti154 – 1541Missing in CLN6. 1 Publication
VAR_015684
Natural varianti159 – 1591P → L in CLN6. 1 Publication
VAR_058436
Natural varianti169 – 1691L → P in CLN6. 1 Publication
VAR_066909
Natural varianti171 – 1711Missing in CLN6. 1 Publication
VAR_015685
Natural varianti186 – 1861F → S in CLN6. 1 Publication
VAR_066910
Natural varianti221 – 2211Y → C in CLN6. 1 Publication
VAR_058437
Natural varianti221 – 2211Y → S in CLN6. 1 Publication
VAR_021551
Natural varianti234 – 2341F → L in CLN6. 2 Publications
VAR_066911
Natural varianti241 – 2411M → T in CLN6. 1 Publication
VAR_021552
Natural varianti252 – 2521R → H in CLN6. 1 Publication
VAR_066912
Natural varianti259 – 2591G → S in CLN6. 1 Publication
VAR_066913
Natural varianti265 – 2651Missing in CLN6. 2 Publications
VAR_021553
Natural varianti297 – 2971P → T in CLN6. 1 Publication
VAR_066914
Natural varianti299 – 2991P → L in CLN6. 1 Publication
VAR_021554
Natural varianti300 – 3001W → R in CLN6. 1 Publication
VAR_015686
Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]: An adult-onset neuronal ceroid lipofuscinosis. 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. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61R → T in CLN4A. 1 Publication
VAR_065834
Natural varianti47 – 471L → F in CLN4A. 1 Publication
VAR_065836
Natural varianti67 – 671L → P in CLN4A. 1 Publication
VAR_065837
Natural varianti77 – 771N → K in CLN4A. 1 Publication
VAR_065838
Natural varianti103 – 1031R → Q in CLN4A. 1 Publication
VAR_065839
Natural varianti149 – 1491R → H in CLN4A. 1 Publication
VAR_065840
Natural varianti238 – 2381F → T in CLN4A; requires 2 nucleotide substitutions. 1 Publication
VAR_065841

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

MIMi204300. phenotype.
601780. phenotype.
Orphaneti228340. CLN4A disease.
228363. CLN6 disease.
PharmGKBiPA26604.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 311311Ceroid-lipofuscinosis neuronal protein 6
PRO_0000089862Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei31 – 311Phosphoserine3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9NWW5.
PaxDbiQ9NWW5.
PRIDEiQ9NWW5.

PTM databases

PhosphoSiteiQ9NWW5.

Expressioni

Gene expression databases

ArrayExpressiQ9NWW5.
BgeeiQ9NWW5.
CleanExiHS_CLN6.
GenevestigatoriQ9NWW5.

Organism-specific databases

HPAiHPA043388.

Interactioni

Subunit structurei

Interacts with CRMP2.1 Publication

Protein-protein interaction databases

BioGridi120318. 7 interactions.
IntActiQ9NWW5. 3 interactions.
STRINGi9606.ENSP00000249806.

Structurei

3D structure databases

ProteinModelPortaliQ9NWW5.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG27962.
HOVERGENiHBG039396.
InParanoidiQ9NWW5.
KOiK12359.
OrthoDBiEOG70S764.
PhylomeDBiQ9NWW5.
TreeFamiTF333294.

Family and domain databases

InterProiIPR029255. CLN6.
[Graphical view]
PfamiPF15156. CLN6. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9NWW5-1 [UniParc]FASTAAdd to Basket

« Hide

MEATRRRQHL GATGGPGAQL GASFLQARHG SVSADEAART APFHLDLWFY    50
FTLQNWVLDF GRPIAMLVFP LEWFPLNKPS VGDYFHMAYN VITPFLLLKL 100
IERSPRTLPR SITYVSIIIF IMGASIHLVG DSVNHRLLFS GYQHHLSVRE 150
NPIIKNLKPE TLIDSFELLY YYDEYLGHCM WYIPFFLILF MYFSGCFTAS 200
KAESLIPGPA LLLVAPSGLY YWYLVTEGQI FILFIFTFFA MLALVLHQKR 250
KRLFLDSNGL FLFSSFALTL LLVALWVAWL WNDPVLRKKY PGVIYVPEPW 300
AFYTLHVSSR H 311
Length:311
Mass (Da):35,919
Last modified:October 1, 2000 - v1
Checksum:iC718E6F2DC20CE0F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61R → T in CLN4A. 1 Publication
VAR_065834
Natural varianti12 – 121A → T in CLN6. 1 Publication
VAR_066904
Natural varianti17 – 171G → S in CLN6. 1 Publication
VAR_066905
Natural varianti34 – 341A → T.1 Publication
VAR_065835
Natural varianti47 – 471L → F in CLN4A. 1 Publication
VAR_065836
Natural varianti62 – 621R → H in CLN6. 1 Publication
VAR_021549
Natural varianti67 – 671L → P in CLN4A. 1 Publication
VAR_065837
Natural varianti72 – 721E → Q in CLN6. 1 Publication
Corresponds to variant rs104894483 [ dbSNP | Ensembl ].
VAR_021550
Natural varianti77 – 771N → K in CLN4A. 1 Publication
VAR_065838
Natural varianti90 – 901N → K in CLN6. 1 Publication
VAR_066906
Natural varianti103 – 1031R → Q in CLN4A. 1 Publication
VAR_065839
Natural varianti104 – 1041S → F in CLN6. 1 Publication
VAR_066907
Natural varianti123 – 1231G → D in CLN6. 1 Publication
Corresponds to variant rs28939384 [ dbSNP | Ensembl ].
VAR_015683
Natural varianti149 – 1491R → C in CLN6. 1 Publication
VAR_066908
Natural varianti149 – 1491R → H in CLN4A. 1 Publication
VAR_065840
Natural varianti154 – 1541Missing in CLN6. 1 Publication
VAR_015684
Natural varianti159 – 1591P → L in CLN6. 1 Publication
VAR_058436
Natural varianti169 – 1691L → P in CLN6. 1 Publication
VAR_066909
Natural varianti171 – 1711Missing in CLN6. 1 Publication
VAR_015685
Natural varianti186 – 1861F → S in CLN6. 1 Publication
VAR_066910
Natural varianti221 – 2211Y → C in CLN6. 1 Publication
VAR_058437
Natural varianti221 – 2211Y → S in CLN6. 1 Publication
VAR_021551
Natural varianti234 – 2341F → L in CLN6. 2 Publications
VAR_066911
Natural varianti238 – 2381F → T in CLN4A; requires 2 nucleotide substitutions. 1 Publication
VAR_065841
Natural varianti241 – 2411M → T in CLN6. 1 Publication
VAR_021552
Natural varianti252 – 2521R → H in CLN6. 1 Publication
VAR_066912
Natural varianti259 – 2591G → S in CLN6. 1 Publication
VAR_066913
Natural varianti265 – 2651Missing in CLN6. 2 Publications
VAR_021553
Natural varianti297 – 2971P → T in CLN6. 1 Publication
VAR_066914
Natural varianti299 – 2991P → L in CLN6. 1 Publication
VAR_021554
Natural varianti300 – 3001W → R in CLN6. 1 Publication
VAR_015686
Natural varianti308 – 3081S → T.1 Publication
Corresponds to variant rs143578698 [ dbSNP | Ensembl ].
VAR_065842

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti281 – 2811W → R in BAB55226. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK000568 mRNA. Translation: BAA91260.1.
AK027604 mRNA. Translation: BAB55226.1.
AK291175 mRNA. Translation: BAF83864.1.
CR457244 mRNA. Translation: CAG33525.1.
CH471082 Genomic DNA. Translation: EAW77811.1.
BC010849 mRNA. Translation: AAH10849.1.
BC013130 mRNA. Translation: AAH13130.1.
CCDSiCCDS10227.1.
RefSeqiNP_060352.1. NM_017882.2.
UniGeneiHs.584921.

Genome annotation databases

EnsembliENST00000249806; ENSP00000249806; ENSG00000128973.
GeneIDi54982.
KEGGihsa:54982.
UCSCiuc002arf.3. human.

Polymorphism databases

DMDMi32129457.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NCL CLN6

Neural Ceroid Lipofuscinoses mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK000568 mRNA. Translation: BAA91260.1 .
AK027604 mRNA. Translation: BAB55226.1 .
AK291175 mRNA. Translation: BAF83864.1 .
CR457244 mRNA. Translation: CAG33525.1 .
CH471082 Genomic DNA. Translation: EAW77811.1 .
BC010849 mRNA. Translation: AAH10849.1 .
BC013130 mRNA. Translation: AAH13130.1 .
CCDSi CCDS10227.1.
RefSeqi NP_060352.1. NM_017882.2.
UniGenei Hs.584921.

3D structure databases

ProteinModelPortali Q9NWW5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120318. 7 interactions.
IntActi Q9NWW5. 3 interactions.
STRINGi 9606.ENSP00000249806.

PTM databases

PhosphoSitei Q9NWW5.

Polymorphism databases

DMDMi 32129457.

Proteomic databases

MaxQBi Q9NWW5.
PaxDbi Q9NWW5.
PRIDEi Q9NWW5.

Protocols and materials databases

DNASUi 54982.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000249806 ; ENSP00000249806 ; ENSG00000128973 .
GeneIDi 54982.
KEGGi hsa:54982.
UCSCi uc002arf.3. human.

Organism-specific databases

CTDi 54982.
GeneCardsi GC15M068499.
GeneReviewsi CLN6.
HGNCi HGNC:2077. CLN6.
HPAi HPA043388.
MIMi 204300. phenotype.
601780. phenotype.
606725. gene.
neXtProti NX_Q9NWW5.
Orphaneti 228340. CLN4A disease.
228363. CLN6 disease.
PharmGKBi PA26604.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG27962.
HOVERGENi HBG039396.
InParanoidi Q9NWW5.
KOi K12359.
OrthoDBi EOG70S764.
PhylomeDBi Q9NWW5.
TreeFami TF333294.

Miscellaneous databases

ChiTaRSi CLN6. human.
GeneWikii CLN6.
GenomeRNAii 54982.
NextBioi 58254.
PROi Q9NWW5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NWW5.
Bgeei Q9NWW5.
CleanExi HS_CLN6.
Genevestigatori Q9NWW5.

Family and domain databases

InterProi IPR029255. CLN6.
[Graphical view ]
Pfami PF15156. CLN6. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT CLN6 LEU-234.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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: Lung and Urinary bladder.
  5. "CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein."
    Mole S.E., Michaux G., Codlin S., Wheeler R.B., Sharp J.D., Cutler D.F.
    Exp. Cell Res. 298:399-406(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  6. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2."
    Benedict J.W., Getty A.L., Wishart T.M., Gillingwater T.H., Pearce D.A.
    J. Neurosci. Res. 87:2157-2166(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CRMP2.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse."
    Gao H., Boustany R.-M.N., Espinola J.A., Cotman S.L., Srinidhi L., Antonellis K.A., Gillis T., Qin X., Liu S., Donahue L.R., Bronson R.T., Faust J.R., Stout D., Haines J.L., Lerner T.J., MacDonald M.E.
    Am. J. Hum. Genet. 70:324-335(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CLN6 TYR-171 DEL.
  15. "The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein."
    Wheeler R.B., Sharp J.D., Schultz R.A., Joslin J.M., Williams R.E., Mole S.E.
    Am. J. Hum. Genet. 70:537-542(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN6 ASP-123 AND ILE-154 DEL.
  16. Cited for: VARIANT CLN6 ARG-300.
  17. "Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis."
    Sharp J.D., Wheeler R.B., Parker K.A., Gardiner R.M., Williams R.E., Mole S.E.
    Hum. Mutat. 22:35-42(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN6 HIS-62; GLN-72; SER-221; THR-241; SER-265 DEL AND LEU-299.
  18. "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 CLN6 LEU-159; CYS-221 AND SER-265 DEL.
  19. Cited for: VARIANTS CLN4A THR-6; PHE-47; PRO-67; LYS-77; GLN-103; HIS-149 AND THR-238, VARIANTS THR-34 AND THR-308.
  20. "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 CLN6 THR-12; SER-17; LYS-90; PHE-104; CYS-149; PRO-169; SER-186; LEU-234; HIS-252; SER-259 AND THR-297.

Entry informationi

Entry nameiCLN6_HUMAN
AccessioniPrimary (citable) accession number: Q9NWW5
Secondary accession number(s): A8K560, Q6IAB1, Q96SR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: October 1, 2000
Last modified: September 3, 2014
This is version 118 of the entry and version 1 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 15
    Human chromosome 15: 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

External Data

Dasty 3

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