Tissue expression of CLN5 - Summary - The Human Protein Atlas

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CLN5

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in most tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly not consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA041788
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

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

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The Project

The Human Protein Atlas

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