CLN5 CLN5 intracellular trafficking protein [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: CLN5provided by VGNC
Official Full Name: CLN5 intracellular trafficking proteinprovided by VGNC
Primary source: VGNC:VGNC:111413
See related: Ensembl:ENSCAFG00845026181
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	22	NC_051826.1 (30880658..30887978)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	22	NC_006604.4 (30429669..30436988)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	22	NC_049243.1 (30655942..30663260)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	22	NC_049282.1 (30548135..30555449)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	22	NC_049763.1 (30586449..30593758)

Chromosome 22 - NC_051826.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.
Title: Visual system pathology in a canine model of CLN5 neuronal ceroid lipofuscinosis.
Genome sequence from one affected dog, contained a plausibly causal homozygous mutation producing a frameshift and premature termination codon and encode a protein variant, which would lack 39 C-terminal amino acids in CLN5.
Title: Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.
Sequencing of CLN5 revealed a nonsense mutation (Q206X) within exon 4 that correlated with neuronal ceroid lipofuscinosis in Border collies
Title: A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: bis(monoacylglycero)phosphate synthase CLN5

Names: BMP synthase CLN5; Ceroid-lipofuscinosis neuronal protein 5; Protein CLN5; S-depalmitoylase CLN5; ceroid-lipofuscinosis, neuronal 5; palmitoyl protein thioesterase CLN5

NP_001011556.1

EC 3.1.2.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.