CLCN1 chloride voltage-gated channel 1 [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: CLCN1provided by VGNC
Official Full Name: chloride voltage-gated channel 1provided by VGNC
Primary source: VGNC:VGNC:39301
See related: Ensembl:ENSCAFG00845016951
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: 16

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	16	NC_051820.1 (6196701..6227304, complement)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	16	NC_006598.4 (7331919..7362475, complement)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	16	NC_049237.1 (6071349..6101933, complement)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	16	NC_049276.1 (6144363..6174910, complement)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	16	NC_049757.1 (5996056..6026611, complement)

Chromosome 16 - NC_051820.1 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?

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables voltage-gated chloride channel activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in chloride transport	IEA Inferred from Electronic Annotation more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info	PubMed

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

General protein information

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Preferred Names: chloride channel protein 1

Names: chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant); chloride channel protein, skeletal muscle; clC-1; skeletal muscle chloride channel 1; skeletal muscle chloride channel ClC-1

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.

mRNA and Protein(s)

NM_001003124.2 → NP_001003124.1 chloride channel protein 1

See identical proteins and their annotated locations for NP_001003124.1

Status: PROVISIONAL

Source sequence(s)

AF162445

UniProtKB/Swiss-Prot

Q9MZT1

UniProtKB/TrEMBL

A0A8C0Q4I6

Related

ENSCAFP00845023575.1, ENSCAFT00845030053.1

Conserved Domains (3) summary

cd03683
Location:117 → 592

ClC_1_like; ClC-1-like chloride channel proteins. This CD includes isoforms ClC-0, ClC-1, ClC-2 and ClC_K. ClC-1 is expressed in skeletal muscle and its mutation leads to both recessively and dominantly-inherited forms of muscle stiffness or myotonia. ClC-K is ...

cd04591
Location:816 → 864

CBS_pair_EriC_assoc_euk_bac; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains in the EriC CIC-type chloride channels in eukaryotes and bacteria. These ion channels are proteins with a seemingly simple task of allowing the passive flow of ...

cl15354
Location:607 → 674

CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...