Aliases for CLCC1 Gene

Aliases for CLCC1 Gene

  • Chloride Channel CLIC Like 1 2 3 5
  • Mid-1-Related Chloride Channel Protein 1 3 4
  • Chloride Channel CLIC-Like Protein 1 3 4
  • MCLC 3 4
  • Mid1-Related Chloride Channel (Yeast) 2
  • Chloride Channel CLIC-Like 1 2
  • KIAA0761 4

External Ids for CLCC1 Gene

Previous GeneCards Identifiers for CLCC1 Gene

  • GC01M109185
  • GC01M108820
  • GC01M109472
  • GC01M107364

Summaries for CLCC1 Gene

GeneCards Summary for CLCC1 Gene

CLCC1 (Chloride Channel CLIC Like 1) is a Protein Coding gene. Diseases associated with CLCC1 include Chudley-Mccullough Syndrome and Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include chloride channel activity.

UniProtKB/Swiss-Prot Summary for CLCC1 Gene

Gene Wiki entry for CLCC1 Gene

Additional gene information for CLCC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLCC1 Gene

Genomics for CLCC1 Gene

GeneHancer (GH) Regulatory Elements for CLCC1 Gene

Promoters and enhancers for CLCC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J108961 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.2 248 2.7 ZNF24 SP1 ZBTB40 MLX RBPJ SMARCE1 POLR2A ATF1 CREB1 HCFC1 AKNAD1 CLCC1 PRPF38B SLC25A24 ENSG00000228703 C1orf194 WDR47 TAF13 lnc-WDR47-1
GH01J108947 Promoter/Enhancer 0.7 EPDnew ENCODE 750.4 +15.0 15017 1.6 POU5F1 ZFHX2 NANOG CLCC1 TMEM167B ENSG00000270066 lnc-WDR47-1 AKNAD1
GH01J108949 Promoter 0.3 EPDnew 750.4 +13.6 13579 0.1 CLCC1 TMEM167B lnc-WDR47-1 AKNAD1
GH01J109482 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 30.3 -520.6 -520615 2.6 ZNF785 SP1 ZBTB40 SIX5 ZBTB6 RBPJ SMARCE1 POLR2A CTBP1 HCFC1 ATXN7L2 ENSG00000258634 STRIP1 PRPF38B ENSG00000244716 ENSG00000273373 SYPL2 ENSG00000228665 CLCC1 RBM15
GH01J108745 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 15 +216.4 216397 3.4 SIN3A ZBTB40 SP1 CTCF SMARCE1 RBPJ POLR2A ATF1 CREB1 COPS2 STXBP3 PRPF38B GPR61 CLCC1 WDR47 PSRC1 CELSR2 lnc-STXBP3-2 ENSG00000228076 lnc-AKNAD1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CLCC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CLCC1 gene promoter:
  • ER-alpha
  • GR
  • GR-alpha
  • GR-beta
  • Hlf
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for CLCC1 Gene

Genomic Locations for CLCC1 Gene
33,992 bases
Minus strand
33,982 bases
Minus strand

Genomic View for CLCC1 Gene

Genes around CLCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLCC1 Gene

Proteins for CLCC1 Gene

  • Protein details for CLCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Chloride channel CLIC-like protein 1
    Protein Accession:
    Secondary Accessions:
    • O94861
    • Q8WYP8
    • Q8WYP9
    • Q9BU25

    Protein attributes for CLCC1 Gene

    551 amino acids
    Molecular mass:
    62023 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CLCC1 Gene


neXtProt entry for CLCC1 Gene

Post-translational modifications for CLCC1 Gene

  • Glycosylation at Thr407, Thr469, and Thr474
  • Ubiquitination at Lys414
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLCC1 Gene

Domains & Families for CLCC1 Gene

Gene Families for CLCC1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for CLCC1 Gene


Suggested Antigen Peptide Sequences for CLCC1 Gene

GenScript: Design optimal peptide antigens:
  • Mid-1-related chloride channel protein 1 (CLCC1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the chloride channel MCLC family.
  • Belongs to the chloride channel MCLC family.
genes like me logo Genes that share domains with CLCC1: view

Function for CLCC1 Gene

Molecular function for CLCC1 Gene

UniProtKB/Swiss-Prot Function:
Seems to act as a chloride ion channel.

Phenotypes From GWAS Catalog for CLCC1 Gene

Gene Ontology (GO) - Molecular Function for CLCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IBA 21873635
genes like me logo Genes that share ontologies with CLCC1: view
genes like me logo Genes that share phenotypes with CLCC1: view

Animal Models for CLCC1 Gene

MGI Knock Outs for CLCC1:
  • Clcc1 Clcc1<tm1b(KOMP)Mbp>

Animal Model Products

CRISPR Products

miRNA for CLCC1 Gene

miRTarBase miRNAs that target CLCC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCC1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CLCC1 Gene

Localization for CLCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLCC1 Gene

Membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLCC1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 3
golgi apparatus 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005783 endoplasmic reticulum IDA,IBA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CLCC1: view

Pathways & Interactions for CLCC1 Gene

PathCards logo

SuperPathways for CLCC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CLCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:1902476 chloride transmembrane transport IEA --
genes like me logo Genes that share ontologies with CLCC1: view

No data available for Pathways by source and SIGNOR curated interactions for CLCC1 Gene

Drugs & Compounds for CLCC1 Gene

(1) Drugs for CLCC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0
genes like me logo Genes that share compounds with CLCC1: view

Transcripts for CLCC1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCC1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CLCC1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - - -
SP4: -
SP6: - -
SP7: - - - -
SP8: - - - -

Relevant External Links for CLCC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CLCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CLCC1 Gene

Protein differential expression in normal tissues from HIPED for CLCC1 Gene

This gene is overexpressed in Breast (51.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLCC1 Gene

Protein tissue co-expression partners for CLCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLCC1 Gene:


SOURCE GeneReport for Unigene cluster for CLCC1 Gene:


Evidence on tissue expression from TISSUES for CLCC1 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with CLCC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CLCC1 Gene

Orthologs for CLCC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CLCC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CLCC1 33 32
  • 99.4 (n)
(Bos Taurus)
Mammalia CLCC1 33 32
  • 87.64 (n)
(Canis familiaris)
Mammalia CLCC1 33 32
  • 87.44 (n)
(Rattus norvegicus)
Mammalia Clcc1 32
  • 80.96 (n)
(Mus musculus)
Mammalia Clcc1 17 33 32
  • 79.85 (n)
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 68 (a)
-- 33
  • 60 (a)
(Gallus gallus)
Aves CLCC1 33 32
  • 65.24 (n)
(Anolis carolinensis)
Reptilia CLCC1 33
  • 58 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia clcc1 32
  • 59.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397947 32
(Danio rerio)
Actinopterygii LOC100332460 32
  • 52.14 (n)
CLCC1 33
  • 35 (a)
Species where no ortholog for CLCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CLCC1 Gene

Gene Tree for CLCC1 (if available)
Gene Tree for CLCC1 (if available)
Evolutionary constrained regions (ECRs) for CLCC1: view image

Paralogs for CLCC1 Gene

No data available for Paralogs for CLCC1 Gene

Variants for CLCC1 Gene

Sequence variations from dbSNP and Humsavar for CLCC1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1051868 likely-benign, Nonsyndromic Hearing Loss, Recessive 108,930,151(-) G/A 3_prime_UTR_variant
rs10607 likely-benign, Nonsyndromic Hearing Loss, Recessive 108,930,395(-) C/T 3_prime_UTR_variant
rs12030 likely-benign, Nonsyndromic Hearing Loss, Recessive 108,930,191(-) T/C 3_prime_UTR_variant
rs138132875 benign-likely-benign, not specified 108,929,693(-) A/G 3_prime_UTR_variant
rs140949805 benign-likely-benign, uncertain-significance, not specified, not provided 108,929,928(-) G/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CLCC1 Gene

Variant ID Type Subtype PubMed ID
dgv15n21 CNV gain 19592680
dgv251n100 CNV loss 25217958
esv2421924 CNV deletion 20811451
esv24963 CNV loss 19812545
esv2662481 CNV deletion 23128226
esv2715940 CNV deletion 23290073
esv2760082 CNV loss 21179565
esv3567237 CNV deletion 23714750
esv3587142 CNV loss 21293372
esv3587143 CNV loss 21293372
nsv1137793 CNV deletion 24896259
nsv437236 CNV loss 16327808
nsv441708 CNV loss 18776908
nsv514000 CNV loss 21397061
nsv526049 CNV loss 19592680
nsv547425 CNV gain 21841781
nsv831026 CNV loss 17160897

Variation tolerance for CLCC1 Gene

Residual Variation Intolerance Score: 54.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.51; 77.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCC1 Gene

Disorders for CLCC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CLCC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chudley-mccullough syndrome
  • cmcs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search CLCC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CLCC1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CLCC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLCC1 Gene

Publications for CLCC1 Gene

  1. Identification of a novel chloride channel expressed in the endoplasmic reticulum, golgi apparatus, and nucleus. (PMID: 11279057) Nagasawa M … Kojima I (The Journal of biological chemistry 2001) 2 3 4 23 56
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  3. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 43 56
  4. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56
  5. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. (PMID: 30157172) Li L … Hejtmancik JF (PLoS genetics 2018) 3 56

Products for CLCC1 Gene

Sources for CLCC1 Gene