InnateDB Protein
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IDBP-22404.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CLN3
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Protein Name
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ceroid-lipofuscinosis, neuronal 3
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000353116
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InnateDB Gene
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IDBG-22402 (CLN3)
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Protein Structure
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Function |
Involved in microtubule-dependent, anterograde transport of late endosomes and lysosomes. {ECO:0000269PubMed:22261744}.
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Subcellular Localization |
Lysosome membrane; Multi-pass membrane protein. Late endosome.
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Disease Associations |
Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]: 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 hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. {ECO:0000269PubMed:21990111, ECO:0000269PubMed:9311735, ECO:0000269PubMed:9490299}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
89
[view]
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Protein-Protein |
89
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003492
Batten\'s disease protein Cln3
IPR016196
Major facilitator superfamily domain, general substrate transporter
IPR018460
Batten\'s disease protein Cln3, subgroup
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PFAM |
PF02487
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PRINTS |
PR01315
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PIRSF |
PIRSF015974
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q13286
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PhosphoSite |
PhosphoSite-Q13286
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TrEMBL |
H3BPL0
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UniProt Splice Variant |
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Entrez Gene |
1201
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UniGene |
Hs.739118
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RefSeq |
NP_001035897
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HUGO |
HGNC:2074
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OMIM |
607042
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CCDS |
CCDS10632
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HPRD |
08450
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IMGT |
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EMBL |
AC002425
AC002544
AC138894
AF015593
AF015598
AF077956
AF077957
AF077958
AF077959
AF077960
AF077961
AF077962
AF077963
AF077965
AF077966
AF077971
AF077972
AF078169
AK294070
AK302138
AK313002
BC002394
BC004433
CH471279
U32680
X99832
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GenPept |
AAB51075
AAC05337
AAC27430
AAD01555
AAD01560
AAD48543
AAD51478
AAD51479
AAD51480
AAD51481
AAD51482
AAD51483
AAD51484
AAD51485
AAD51487
AAD51488
AAD51493
AAD51494
AAH02394
AAH04433
BAG35838
BAG57414
BAG63512
CAA68148
EAW52281
EAW52284
EAW52285
EAW52286
EAW52290
EAW52292
EAW52298
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