Tissue expression of CLN6 - Summary - The Human Protein Atlas

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CLN6

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	CLN6
Gene description	Ceroid-lipofuscinosis, neuronal 6, late infantile, variant
Protein class	Disease related genes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	5
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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 several tissues.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data.
Reliability score	Approved based on 1 antibody. HPA066046
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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	CLN6 (HGNC Symbol)
Synonyms	FLJ20561, HsT18960, nclf
Description	Ceroid-lipofuscinosis, neuronal 6, late infantile, variant (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	15
Cytoband	q23
Chromosome location (bp)	68206992 - 68257211
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000128973 (version 83.38)
Entrez gene	54982
UniProt	Q9NWW5 (UniProt - Evidence at protein level)
neXtProt	NX_Q9NWW5
Antibodypedia	CLN6 antibodies

PROTEIN BROWSER

CLN6-001	CLN6-004	CLN6-005	CLN6-006	CLN6-008

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CLN6-001 ENSP00000249806 ENST00000249806	Q9NWW5 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 6 A0A024R601 [Target identity:100%; Query identity:100%] Ceroid-lipofuscinosis, neuronal 6, late infantile, variant, isoform CRA_a Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 5TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001573 [ganglioside metabolic process] GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005783 [endoplasmic reticulum] GO:0005788 [endoplasmic reticulum lumen] GO:0005789 [endoplasmic reticulum membrane] GO:0007040 [lysosome organization] GO:0007042 [lysosomal lumen acidification] GO:0007601 [visual perception] GO:0008203 [cholesterol metabolic process] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0030163 [protein catabolic process] GO:0030203 [glycosaminoglycan metabolic process] GO:0031965 [nuclear membrane] GO:0031987 [locomotion involved in locomotory behavior] GO:0042803 [protein homodimerization activity] GO:0043231 [intracellular membrane-bounded organelle] GO:0044265 [cellular macromolecule catabolic process] GO:0045862 [positive regulation of proteolysis] Show all	311 aa 35.9 kDa	No	5
CLN6-004 ENSP00000445770 ENST00000538696	Q9NWW5 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 6 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 5TM proteins predicted by MDM Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0001573 [ganglioside metabolic process] GO:0005515 [protein binding] GO:0005654 [nucleoplasm] GO:0005783 [endoplasmic reticulum] GO:0005788 [endoplasmic reticulum lumen] GO:0005789 [endoplasmic reticulum membrane] GO:0007042 [lysosomal lumen acidification] GO:0008203 [cholesterol metabolic process] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0030163 [protein catabolic process] GO:0030203 [glycosaminoglycan metabolic process] GO:0031965 [nuclear membrane] GO:0042803 [protein homodimerization activity] GO:0043231 [intracellular membrane-bounded organelle] GO:0045862 [positive regulation of proteolysis] Show all	343 aa 39.5 kDa	No	5
CLN6-005 ENSP00000457783 ENST00000566347	H3BUT1 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 6; Ceroid-lipofuscinosis, neuronal 6, late infantile, variant, isoform CRA_c Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0005783 [endoplasmic reticulum] GO:0016021 [integral component of membrane] GO:0031965 [nuclear membrane] GO:0043231 [intracellular membrane-bounded organelle] Show all	248 aa 28.7 kDa	No	4
CLN6-006 ENSP00000457822 ENST00000564752	H3BUV4 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 6 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 TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005654 [nucleoplasm] GO:0005783 [endoplasmic reticulum] GO:0016021 [integral component of membrane] GO:0031965 [nuclear membrane] GO:0043231 [intracellular membrane-bounded organelle] Show all	213 aa 23.5 kDa	No	2
CLN6-008 ENSP00000457384 ENST00000565471	H3BTY4 [Direct mapping] Ceroid-lipofuscinosis neuronal protein 6 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0016021 [integral component of membrane] Show all	158 aa 18 kDa	No	3

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The Project

The Human Protein Atlas

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