Cell atlas - CLN5 - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

CLN5

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

Please wait until image is loaded before changing channels

GENERAL INFORMATION
Gene name	CLN5
Gene description	Ceroid-lipofuscinosis, neuronal 5
Protein class	Disease related genes Predicted membrane proteins Predicted secreted proteins
Predicted localization	Membrane,Secreted
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	CLN5
Synonyms
Description	Ceroid-lipofuscinosis, neuronal 5 (HGNC Symbol)
Entrez gene 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]
Chromosome	13
Cytoband	q22.3
Chromosome location (bp)	76990660 - 77002517
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000102805 (version 83.38)
Entrez gene	1203
UniProt	O75503 (UniProt - Evidence at protein level)
neXtProt	NX_O75503
Antibodypedia	CLN5 antibodies

PROTEIN BROWSER

CLN5-001	CLN5-002	CLN5-003

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CLN5-001 ENSP00000366673 ENST00000377453	A0A024R644 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 5; Ceroid-lipofuscinosis, neuronal 5, isoform CRA_a Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005764 [lysosome] GO:0005775 [vacuolar lumen] GO:0007040 [lysosome organization] GO:0007601 [visual perception] GO:0022008 [neurogenesis] Show all	407 aa 46.3 kDa	No	1
CLN5-002 ENSP00000482959 ENST00000485938	A0A087WZY0 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 5 Show all	MEMSAT3 predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005764 [lysosome] GO:0022008 [neurogenesis] Show all	186 aa 21 kDa	Yes	0
CLN5-003 ENSP00000479547 ENST00000616833	O75503 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 5 Show all	MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins SPOCTOPUS predicted secreted proteins Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] GO:0005537 [mannose binding] GO:0005764 [lysosome] GO:0005765 [lysosomal membrane] GO:0005783 [endoplasmic reticulum] GO:0005794 [Golgi apparatus] GO:0006465 [signal peptide processing] GO:0007042 [lysosomal lumen acidification] GO:0007420 [brain development] GO:0016021 [integral component of membrane] GO:0022008 [neurogenesis] GO:0030163 [protein catabolic process] GO:0042551 [neuron maturation] GO:0048471 [perinuclear region of cytoplasm] GO:0070062 [extracellular exosome] GO:0070085 [glycosylation] Show all	358 aa 41.5 kDa	Yes	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.