Tissue expression of CLCN1 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	CLCN1
Gene description	Chloride channel, voltage-sensitive 1
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (skeletal muscle)
GTEx:	Tissue enriched (skeletal muscle)
FANTOM5:	Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION
Gene name	CLCN1 (HGNC Symbol)
Synonyms	ClC-1, CLC1
Description	Chloride channel, voltage-sensitive 1 (HGNC Symbol)
Entrez gene summary	The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
Chromosome	7
Cytoband	q34
Chromosome location (bp)	143316126 - 143352083
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000188037 (version 83.38)
Entrez gene	1180
UniProt	P35523 (UniProt - Evidence at protein level)
neXtProt	NX_P35523
Antibodypedia	CLCN1 antibodies

PROTEIN BROWSER

CLCN1-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
CLCN1-001 ENSP00000339867 ENST00000343257	P35523 [Direct mapping] Chloride channel protein 1 Show all	Transporters Electrochemical Potential-driven transporters 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 >9TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005216 [ion channel activity] GO:0005247 [voltage-gated chloride channel activity] GO:0005254 [chloride channel activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006810 [transport] GO:0006821 [chloride transport] GO:0006936 [muscle contraction] GO:0016020 [membrane] GO:0019227 [neuronal action potential propagation] GO:0034220 [ion transmembrane transport] GO:0034707 [chloride channel complex] GO:0042383 [sarcolemma] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] GO:1903959 [regulation of anion transmembrane transport] Show all	988 aa 108.6 kDa	No	>9