CLN5 - CLN5 intracellular trafficking protein Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1203

About CLN5

Cytogenetic location: 13q22.3 Genomic coordinates (GRCh38): 13:76,992,081-77,005,117 (from NCBI)

This gene has 19 transcripts (splice variants), 196 orthologues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 44.6), kidney (RPKM 19.6) and 24 other tissues.

Summary

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function.[provided by RefSeq, Oct 2008]

CLN5 Products (2)

mRNA	Protein	Name
NM_001366624.2	NP_001353553.1	ceroid-lipofuscinosis neuronal protein 5 isoform 2 precursor
NM_006493.4	NP_006484.2	ceroid-lipofuscinosis neuronal protein 5 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables D-mannose binding	IDA IDA: Inferred from direct assay	16399764	GOA
enables bis(monoacylglycero)phosphate synthase activity	IDA IDA: Inferred from direct assay	37708259	GOA
enables long-chain fatty acyl-CoA hydrolase activity	IDA IDA: Inferred from direct assay	35427157	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12134079	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in brain development	IEP IEP: Inferred from expression pattern	10992246	GOA
involved in glycosylation	IDA IDA: Inferred from direct assay	16399764	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	11722572	GOA
involved in neurogenesis	IEP IEP: Inferred from expression pattern	10992246	GOA
involved in positive regulation of GTP binding	IMP IMP: Inferred from mutant phenotype	22431521	GOA
involved in retrograde transport, endosome to Golgi	IMP IMP: Inferred from mutant phenotype	22431521	GOA
involved in signal peptide processing	IDA IDA: Inferred from direct assay	20052765	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in Golgi apparatus	IDA IDA: Inferred from direct assay	12134079	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12134079	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	12134079	GOA
located in lysosome	IDA IDA: Inferred from direct assay	11971870	GOA
located in membrane	IDA IDA: Inferred from direct assay	12134079	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	10992246	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLN5 Protein Structure

CLN5

0
100
200
300
407 a.a.

Protein Preferred Names	Protein Names
ceroid-lipofuscinosis neuronal protein 5	ceroid-lipofuscinosis, neuronal 5

CLN5 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CLN5	O75503	SLC41A2	Homo sapiens	Q96JW4	Validated Y2H	32296183
Intra	CLN5	O75503	PLPP6	Homo sapiens	Q8IY26	Validated Y2H	32296183
Intra	CLN5	O75503	SLC41A1	Homo sapiens	Q8IVJ1	Validated Y2H	32296183
Intra	CLN5	O75503	IGF2	Homo sapiens	P01344-3	Validated Y2H	32296183
Intra	CLN5	O75503	GPR152	Homo sapiens	Q8TDT2	Validated Y2H	32296183
Intra	CLN5	O75503	CLN3	Homo sapiens	Q13286	Pull Down	12134079
Intra	CLN5	O75503	CLN3	Homo sapiens	Q13286	Anti Bait CoIP	12134079
Intra	CLN5	O75503	FDFT1	Homo sapiens	P37268	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Ceroid Lipofuscinosis, Neuronal, 5	Neuronal Ceroid Lipofuscinosis 5 CLN5 Cln5 Disease Finnish Variant Late Infantile Neuronal Ceroid Lipofuscinosis Vlincl Ceroid Lipofuscinosis, Neuronal, 5, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 5 Variable Age Of Onset Cln5 Disease, Adult Cln5 Disease, Juvenile Cln5 Disease, Late Infantile Neuronal Ceroid Lipofuscinosis Finnish Variant Finnish Vlincl Jansky-Bielschowsky Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Late-Infantile Finnish Neuronal Ceroid Lipofuscinosis 5 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 5 Late-Infantile Neuronal Ceroid Lipfuscinosis Ceroid Lipofuscinosis, Neuronal, 6
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Neuronal Ceroid-Lipofuscinoses	Infantile Neuronal Ceroid Lipofuscinosis Santavuori Disease Hagberg-Santavuori Disease Incl Infantile Ncl Santavuori-Haltia Disease Neuronal Ceroid-Lipofuscinosis, Infantile Lipofuscin Storage Disease Neuronal Ceroid Lipofuscinoses Juvenile Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis, Neuronal, 3	Batten Disease Juvenile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 3 CLN3 Jncl Spielmeyer-Vogt Disease Vogt-Spielmeyer Disease Spielmeyer-Sjogren Disease Cln3 Disease Neuronal Ceroid Lipofuscinosis, Juvenile Cln3 Disease, Juvenile Spielmeyer Sjogren Disease Vogt Spielmeyer Disease Batten-Mayou Disease Batten-Spielmeyer-Vogt Disease Cln3-Related Neuronal Ceroid-Lipofuscinosis Juvenile Batten Disease Juvenile Cerebroretinal Degeneration Classic Juvenile Ncl Classic Juvenile Neuronal Ceroid Lipofuscinosis Juvenile Ncl Lipofuscinosis, Ceroid, Neuronal, Type 3
Ceroid Lipofuscinosis, Neuronal, 6a	Neuronal Ceroid Lipofuscinosis 6 CLN6 Vlincl Cln6 Disease Ceroid Lipofuscinosis, Neuronal, 6 Late-Infantile Neuronal Ceroid Lipofuscinosis CLN6A Neuronal Ceroid Lipofuscinosis, Late Infantile, Variant Neuronal Ceroid Lipofuscinosis 6a Neuronal Ceroid Lipofuscinosis 6 Variable Age Of Onset Cln6 Disease, Adult Kufs Type A Cln6 Disease, Late Infantile Neuronal Ceroid Lipofuscinosis, Gypsy/Indian Early Juvenile Variant Ceroid Lipofuscinosis Neuronal 6 Cln6-Related Neuronal Ceroid Lipofuscinosis Late Infantile Neuronal Ceroid Lipofuscinosis Jansky-Bielschowsky Disease Lincl Late Infantile Ncl Neuronal Ceroid Lipofuscinosis 6 With Variable Age At Onset Variant Late-Onset Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, Late Infantile, Variant Lipofuscinosis, Ceroid, Neuronal, Type 6 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Northern Epilepsy Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant Epmr Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type Northern Epilepsy Syndrome Epilepsy, Progressive, With Mental Retardation Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant Progressive Epilepsy With Mental Retardation, Northern Epilepsy Cln8 Disease, Northern Epilepsy Variant Ncl, Northern Epilepsy Variant Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant CLN8NE Ceroid Lipofuscinosis, Neuronal, 8
Peripheral Retinal Degeneration	Peripheral Degeneration Of Retina Degeneration Of Retina Nos Reticular Retinal Degeneration Retinal Degeneration
Ceroid Lipofuscinosis, Neuronal, 2	Jansky-Bielschowsky Disease Neuronal Ceroid Lipofuscinosis 2 CLN2 Lincl Cln2 Disease Late-Infantile Neuronal Ceroid Lipofuscinosis Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset Cln2 Disease, Juvenile Cln2 Disease, Late Infantile Late-Infantile Batten Disease Neuronal Ceroid Lipofuscinosis, Late-Infantile Classic Late Infantile Ncl Classic Late Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset Lipofuscinosis, Ceroid, Neuronal, Type 2 Late-Infantile Neuronal Ceroid Lipfuscinosis
Ceroid Lipofuscinosis, Neuronal, 11	Neuronal Ceroid Lipofuscinosis 11 CLN11 Cln11 Disease Grn-Related Neuronal Ceroid-Lipofuscinosis Lipofuscinosis, Ceroid, Neuronal, Type 11
Ceroid Lipofuscinosis, Neuronal, 10	Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency Neuronal Ceroid Lipofuscinosis 10 CLN10 Cathepsin D Deficiency Congenital Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient Cln10 Disease Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient Cln10 Disease, Adult Cln10 Disease, Congenital Cln10 Disease, Juvenile Cln10 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis Congenital Ncl Lipofuscinosis, Ceroid, Neuronal, Type 10 Neuronal Ceroid Lipofuscinosis, Congenital
Ceroid Lipofuscinosis, Neuronal, 13	Neuronal Ceroid Lipofuscinosis 13 CLN13 Neuronal Ceroid Lipofuscinosis 13 Kufs Type Cln13 Disease Lipofuscinosis, Ceroid, Neuronal, Type 13
Progressive Myoclonus Epilepsy 3	Cln14 Disease Epm3 Neuronal Ceroid Lipofuscinosis 14 Pme Type 3 Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency Progressive Myoclonus Epilepsy Type 3 Epilepsy, Progressive Myoclonic 3
Visual Epilepsy	Seizures Epilepsy, Visual Visual Seizure Acute Symptomatic Seizure Provoked Seizure Nonepileptic Seizure Disorder Uncontrolled Seizures Seizure Nos Fits Nos Onset Seizure Nos Seizure Disturbance
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Spinocerebellar Ataxia, Autosomal Recessive 7	SCAR7 Autosomal Recessive Spinocerebellar Ataxia 7 Spinocerebellar Ataxia Autosomal Recessive 7 Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia Autosomal Recessive Spinocerebellar Ataxia Type 7 Spinocerebellar Ataxia, Autosomal Recessive, 7 Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
Waardenburg Syndrome, Type 4a	Waardenburg-Shah Syndrome Shah-Waardenburg Syndrome Waardenburg Syndrome Type 4a WS4A Ws4 Waardenburg Syndrome Type 4 Waardenburg Syndrome Type Iva Waardenburg Syndrome With Hirschsprung Disease Type 4a Hirschsprung Disease With Pigmentary Anomaly Waardenburg-Hirschsprung Syndrome Waardenburg Syndrome, Type Iva Waardenburg Syndrome With Hirschsprung Disease, Type 4a Waardenburg-Hirschsprung Disease Waardenburg Syndrome, Type 4 Waardenburg Syndrome 4a
Unverricht-Lundborg Syndrome	Unverricht-Lundborg Disease Epm1 Myoclonic Epilepsy Of Unverricht And Lundborg Myoclonus Progressive Epilepsy Of Unverricht And Lundborg Unverricht - Lundborg Disease Unverricht'S Disease Epilepsy, Progressive Myoclonic Type 1 Epilepsy, Progressive Myoclonus 1 Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonus Baltic Myoclonus Epilepsy Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Pme Progressive Myoclonic Epilepsy Progressive Myoclonus Epilepsy 1 Uld Myoclonic Epilepsies, Progressive
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Mucopolysaccharidosis, Type Iiia	Mucopolysaccharidosis Type Iiia MPS3A Mps Iiia Sanfilippo Syndrome A Heparan Sulfate Sulfatase Deficiency Sulfamidase Deficiency Heparan Sulfamidase Deficiency Mpsiiia Mucopolysaccharidosis Type 3a Sanfilippo Syndrome Type A Mucopolysaccharidosis Iii-A Heparane Sulfamidase Deficiency Mps 3a Mucopoly-Saccharidosis Type 3a Mps Iii-A Mucopolysaccharidosis 3a Mucopolysaccharidosis Iii
Retinal Degeneration	Degeneration Of Retina
Mucopolysaccharidosis Iii	Sanfilippo Syndrome Mucopolysaccharidosis Type Iii Mucopolysaccharidosis Type 3 Mps Iii Mpsiii Sanfilippo Disease Heparan Sulfate Sulfatase Deficiency Mucopolysaccharidosis, Mps-Iii N-Sulphoglucosamine Sulphohydrolase Deficiency Naglu Deficiency Sanfilippo'S Syndrome Mucopoly-Saccharidosis Type 3 Mps3 Sanfilippos Syndrome Mucopolysaccharidosis Type Iiia Mps Iii B
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Tay-Sachs Disease	Hexosaminidase A Deficiency TSD Hexa Deficiency Gm2 Gangliosidosis, Type 1 Hexosaminidase Alpha-Subunit Deficiency Gm2-Gangliosidosis, Several Forms Gm2-Gangliosidosis, B, B1, Ab Variant B Variant Gm2 Gangliosidosis Sphingolipidosis, Tay-Sachs Gm2-Gangliosidosis, Type I B Variant Gm2-Gangliosidosis Hex A Pseudodeficiency Hexa Disorders Beta-Hexosaminidase A Deficiency Gm2 Gangliosidosis, Type I Gangliosidosis Gm2 , Type 1 Gm2 Gangliosidosis, B, B1 Variant Gm2-Gangliosidosis 1 GM2G1 Gm2-Gangliosidosis B Variant Tay-Sachs Disease Pseudo-Ab Variant Tay-Sachs Disease Variant B1 Gangliosidoses, Gm2
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C NPC1 Niemann-Pick Disease, Type D Niemann-Pick Disease Type C1 Niemann-Pick Disease With Cholesterol Esterification Block Niemann-Pick Disease, Subacute Juvenile Form Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia Npc Niemann-Pick Disease, Chronic Neuronopathic Form Niemann-Pick Disease Without Sphingomyelinase Deficiency Niemann-Pick Disease Type C Niemann-Pick Disease Type D Niemann-Pick C1 Disease Niemann-Pick Disease C1 Niemann-Pick Disease Chronic Neuronopathic Form Niemann-Pick Disease Nova Scotian Type Niemann-Pick Disease Subacute Juvenile Form Niemann-Pick Disease Type Ii Niemann-Picks Disease Type C
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02823	CLN5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22122	Cln5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28644	Cln5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	CLN5	RGD	RGD:1306965
Bos taurus	CLN5	VGNC	VGNC:107252
Mus musculus	CLN5	MGD	MGI:2442253
Others	CLN5	NCBI