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Aliases for CLCC1 Gene
Aliases for CLCC1 Gene
External Ids for CLCC1 Gene
- HGNC: 29675
- NCBI Entrez Gene: 23155
- Ensembl: ENSG00000121940
- OMIM®: 617539
- UniProtKB/Swiss-Prot: Q96S66
Previous GeneCards Identifiers for CLCC1 Gene
- GC01M109185
- GC01M108820
- GC01M109472
- GC01M107364
- GC01M108929
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 Retinitis Pigmentosa 32 and Retinitis Pigmentosa. Gene Ontology (GO) annotations related to this gene include chloride channel activity.
UniProtKB/Swiss-Prot Summary for CLCC1 Gene
-
Seems to act as a chloride ion channel (PubMed:30157172). Plays a role in retina development (PubMed:30157172).
Additional gene information for CLCC1 Gene
- HGNC (29675)
- NCBI Entrez Gene (23155)
- Ensembl (ENSG00000121940)
- OMIM® (617539)
- UniProtKB/Swiss-Prot (Q96S66)
- Open Targets Platform(ENSG00000121940)
- Search for CLCC1 at DataMed
- Search for CLCC1 at HumanCyc
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 Pubs
Promoters and enhancers for CLCC1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLCC1
- 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
Latest Assembly
- chr1:108,927,361-108,963,504
- (GRCh38/hg38)
- Size:
- 36,144 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:109,472,127-109,506,106
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 33,980 bases
- Orientation:
- Minus strand
- chr1:109,472,130-109,506,111
- (GRCh37/hg19 by Ensembl)
- Size:
- 33,982 bases
- Orientation:
- Minus strand
Genomic View for CLCC1 Gene
Genes around CLCC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
CLCC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CLCC1 Gene
Proteins for CLCC1 Gene
-
Protein details for CLCC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96S66-CLCC1_HUMAN
- Recommended name:
- Chloride channel CLIC-like protein 1
- Protein Accession:
- Q96S66
- O94861
- Q8WYP8
- Q8WYP9
- Q9BU25
Protein attributes for CLCC1 Gene
- Size:
- 551 amino acids
- Molecular mass:
- 62023 Da
- Quaternary structure:
-
- Interacts with mitochondrial protein PIGBOS1 (via C-terminus); the interaction occurs at the mitochondria-associated endoplasmic reticulum (ER) membrane, a zone of contact between the ER and mitochondrial membranes, but does not appear to play a role in ER-mitochondria tethering and is not affected by ER stress (PubMed:31653868). Interacts with CALR (PubMed:30157172).
Protein Expression for CLCC1 Gene
Post-translational modifications for CLCC1 Gene
Other Protein References for CLCC1 Gene
- ENSEMBL proteins:
-
- ENSP00000501777
- ENSP00000358985
- ENSP00000501696
- ENSP00000502551
- ENSP00000358986
- ENSP00000349456
- ENSP00000358993
- ENSP00000501658
- ENSP00000502527
- ENSP00000502080
- ENSP00000358987
- ENSP00000502653
- ENSP00000501591
- ENSP00000502648
- ENSP00000502115
- ENSP00000502784
- ENSP00000501566
- ENSP00000502169
- ENSP00000502251
- ENSP00000502457
- ENSP00000306552
- ENSP00000502836
- ENSP00000502771
- ENSP00000502042
- ENSP00000337243
- ENSP00000502109
- ENSP00000501970
- ENSP00000501775
- Q96S66.134
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ CLCC1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for CLCC1
- Novus Biologicals Antibodies for CLCC1
- Invitrogen Antibodies for CLCC1 (AFLGC-CLCC1)
-
Biorbyt antibodies for CLCC1
-
Custom Antibody ServicesProSci Antibodies for CLCC1
- Sino Biological Antibodies for CLCC1
Protein products for research
-
OriGene Purified Proteins for CLCC1
- Search Origene for MassSpec and Protein Over-expression Lysates for CLCC1
- Origene Custom Protein Services for CLCC1
- antibodies-online: Show 4 available CLCC1 Proteins ranked by validation data
- Compare Top CLCC1 Proteins
-
Quality Products:
-
Abcam proteins for CLCC1
Assay products for research
- antibodies-online: Show 7 available CLCC1 Elisa Kits ranked by validation data
- Compare Top CLCC1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CLCC1 Gene
Domains & Families for CLCC1 Gene
Gene Families for CLCC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted membrane proteins
- Transporters
Protein Domains for CLCC1 Gene
- InterPro:
- ProtoNet:
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
Q96S66- Family:
-
- Belongs to the chloride channel MCLC family.
Function for CLCC1 Gene
Molecular function for CLCC1 Gene
- UniProtKB/Swiss-Prot Function:
- Seems to act as a chloride ion channel (PubMed:30157172). Plays a role in retina development (PubMed:30157172).
Phenotypes From GWAS Catalog for CLCC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005254 | chloride channel activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 31653868 |
Phenotypes for CLCC1 Gene
- MGI mutant phenotypes for CLCC1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CLCC1:
Animal Models for CLCC1 Gene
- MGI Knock Outs for CLCC1:
-
- Clcc1 Clcc1<tm1b(KOMP)Mbp>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CLCC1 - Starting at $85 >
- * CLCC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CLCC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCC1
miRNA for CLCC1 Gene
- miRTarBase miRNAs that target CLCC1
-
- hsa-miR-615-3p (MIRT040015)
- hsa-miR-15a-5p (MIRT051331)
- hsa-miR-6516-5p (MIRT479206)
- hsa-miR-455-3p (MIRT479207)
- hsa-miR-6880-5p (MIRT479208)
- hsa-miR-6499-3p (MIRT479209)
- hsa-miR-508-3p (MIRT479210)
- hsa-miR-6086 (MIRT479211)
- hsa-miR-377-5p (MIRT479212)
- hsa-miR-4537 (MIRT479213)
- hsa-miR-5186 (MIRT479214)
- hsa-miR-3192-5p (MIRT479215)
- hsa-miR-7851-3p (MIRT479216)
- hsa-miR-490-3p (MIRT479217)
- hsa-miR-7856-5p (MIRT529136)
- hsa-miR-3658 (MIRT529137)
- hsa-miR-548s (MIRT529138)
- hsa-miR-3926 (MIRT529139)
- hsa-miR-6128 (MIRT529140)
- hsa-miR-4307 (MIRT529141)
- hsa-miR-619-3p (MIRT529142)
- hsa-miR-323a-3p (MIRT529143)
- hsa-miR-33a-3p (MIRT529144)
- hsa-miR-5197-5p (MIRT529145)
- hsa-miR-649 (MIRT529146)
- hsa-miR-6864-3p (MIRT704632)
- hsa-miR-3672 (MIRT704633)
- hsa-miR-769-5p (MIRT704634)
- hsa-miR-4786-5p (MIRT704635)
- hsa-miR-3190-5p (MIRT704636)
- hsa-miR-6849-3p (MIRT704637)
- hsa-miR-665 (MIRT704638)
- hsa-miR-887-5p (MIRT704639)
- hsa-miR-6780a-5p (MIRT704640)
- hsa-miR-6779-5p (MIRT704641)
- hsa-miR-3689c (MIRT704642)
- hsa-miR-3689b-3p (MIRT704643)
- hsa-miR-3689a-3p (MIRT704644)
- hsa-miR-30b-3p (MIRT704645)
- hsa-miR-1273h-5p (MIRT704646)
- hsa-miR-6788-5p (MIRT704647)
- hsa-miR-30c-2-3p (MIRT704648)
- hsa-miR-30c-1-3p (MIRT704649)
- hsa-miR-6799-5p (MIRT704650)
- hsa-miR-6883-5p (MIRT704651)
- hsa-miR-6785-5p (MIRT704652)
- hsa-miR-4728-5p (MIRT704653)
- hsa-miR-149-3p (MIRT704654)
- hsa-miR-7106-5p (MIRT704655)
- hsa-miR-7160-5p (MIRT704656)
- hsa-miR-6884-5p (MIRT704657)
- hsa-miR-485-5p (MIRT704658)
- hsa-miR-4768-3p (MIRT704659)
- hsa-miR-5690 (MIRT704660)
- hsa-miR-6500-3p (MIRT704661)
- hsa-miR-3614-5p (MIRT704662)
- hsa-miR-4478 (MIRT704663)
- hsa-miR-4419b (MIRT704664)
- hsa-miR-3929 (MIRT704665)
- hsa-miR-940 (MIRT704666)
- hsa-miR-6893-5p (MIRT704667)
- hsa-miR-6808-5p (MIRT704668)
- hsa-miR-890 (MIRT704669)
- hsa-miR-34b-3p (MIRT704670)
- hsa-miR-30e-5p (MIRT727976)
- hsa-miR-30d-5p (MIRT727977)
- hsa-miR-30c-5p (MIRT727978)
- hsa-miR-30a-5p (MIRT727979)
- hsa-miR-30b-5p (MIRT727980)
- hsa-miR-181d-5p (MIRT727981)
- hsa-miR-181c-5p (MIRT727982)
- hsa-miR-181b-5p (MIRT727983)
- hsa-miR-181a-5p (MIRT727984)
- hsa-miR-3675-3p (MIRT766668)
- hsa-miR-4293 (MIRT768421)
- hsa-miR-4684-5p (MIRT770987)
- hsa-miR-6771-3p (MIRT778611)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLCC1
- Browse OriGene Inhibitory RNA Products For CLCC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCC1
Clone products for research
- Applied Biological Materials (abm): Clones for CLCC1 - Starting at $45 >
- * CLCC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208623
- MG219904
- MG219911
- MR208623
- MR208623L3
- MR208623L4
- MR219904
- MR219904L3
- MR219904L4
- MR219911
- MR219911L3
- MR219911L4
- RC202649
- RC202649L1
- RC202649L2
- RC202649L3
- RC202649L4
- RC213260
- RC213260L1
- RC213260L2
- RC213260L3
- RC213260L4
- RC237752
- RC238182
- RG202649
- RG213260
- RR203798
- RR203798L3
- RR203798L4
- MR208623L3V
- MR208623L4V
- MR219904L3V
- MR219904L4V
- MR219911L3V
- MR219911L4V
- RC202649L1V
- RC202649L2V
- RC202649L3V
- RC202649L4V
- RC213260L1V
- RC213260L2V
- RC213260L3V
- RC213260L4V
- RR203798L3V
- RR203798L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CLCC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCC1
Cell Lines for research
-
Horizon Cell Lines for CLCC1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CLCC1 Gene
Localization for CLCC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CLCC1 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein. Golgi apparatus membrane. Multi-pass membrane protein. Nucleus membrane. Multi-pass membrane protein. Note=Within the endoplasmic reticulum (ER), localizes to the mitochondria-associated ER membrane, a zone of contact between the ER and mitochondrial membranes. {ECO:0000269 PubMed:31653868}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| nucleus | 3 |
| golgi apparatus | 3 |
| plasma membrane | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IBA,IDA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for CLCC1 Gene
Interacting Proteins for CLCC1 Gene
GPS-Prot Interaction Network for CLCC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006811 | ion transport | IEA | -- |
| GO:0006821 | chloride transport | IEA | -- |
| GO:1902476 | chloride transmembrane transport | IEA | -- |
No data available for Pathways by source for CLCC1 Gene
Transcripts for CLCC1 Gene
mRNA/cDNA for CLCC1 Gene
- 17 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000302500 1708 nts (view in UCSC)
- ENST00000348264 1124 nts (view in UCSC)
- ENST00000356970 4803 nts (view in UCSC)
- ENST00000369968 6875 nts (view in UCSC)
- ENST00000369969 4994 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CLCC1 - Starting at $85 >
- * CLCC1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CLCC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLCC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLCC1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLCC1
- Browse OriGene Inhibitory RNA Products For CLCC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLCC1
Clone products for research
- Applied Biological Materials (abm): Clones for CLCC1 - Starting at $45 >
- * CLCC1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208623
- MG219904
- MG219911
- MR208623
- MR208623L3
- MR208623L4
- MR219904
- MR219904L3
- MR219904L4
- MR219911
- MR219911L3
- MR219911L4
- RC202649
- RC202649L1
- RC202649L2
- RC202649L3
- RC202649L4
- RC213260
- RC213260L1
- RC213260L2
- RC213260L3
- RC213260L4
- RC237752
- RC238182
- RG202649
- RG213260
- RR203798
- RR203798L3
- RR203798L4
- MR208623L3V
- MR208623L4V
- MR219904L3V
- MR219904L4V
- MR219911L3V
- MR219911L4V
- RC202649L1V
- RC202649L2V
- RC202649L3V
- RC202649L4V
- RC213260L1V
- RC213260L2V
- RC213260L3V
- RC213260L4V
- RR203798L3V
- RR203798L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CLCC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLCC1
| 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: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP9: |
Relevant External Links for CLCC1 Gene
- GeneLoc Exon Structure for
- CLCC1
Expression 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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLCC1
SOURCE GeneReport for Unigene cluster for CLCC1 Gene:
Hs.658489mRNA Expression by UniProt/SwissProt for CLCC1 Gene:
Q96S66-CLCC1_HUMAN
Tissue specificity:
Expressed in the retina of the eye, with extensive expression in the lamina cribrosa, optic nerve, ganglion cell layer, inner nuclear layer, outer nuclear layer and retinal pigment epithelium.
Evidence on tissue expression from TISSUES for CLCC1 Gene
- Nervous system(4.5)
- Skin(4.3)
- Liver(4.3)
Primer products for research
-
OriGene qPCR primer pairs for CLCC1
-
OriGene qPCR primer pairs and template standards for CLCC1
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CLCC1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CLCC1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CLCC1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Clcc1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Clcc1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | CLCC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CLCC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clcc1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC397947 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100332460 30 |
|
||
| CLCC1 31 |
|
OneToOne |
- Species where no ortholog for CLCC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
- ENSEMBL:
- Gene Tree for CLCC1 (if available)
- TreeFam:
- Gene Tree for CLCC1 (if available)
- Aminode:
- 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLCC1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835612 | Uncertain Significance: not provided | 108,934,878(-) |
G/A NM_001377458.1(CLCC1):c.1448C>T (p.Pro483Leu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 837514 | Uncertain Significance: not provided | 108,941,460(-) |
C/T NM_001048210.3(CLCC1):c.741G>A (p.Met247Ile) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
| 843901 | Uncertain Significance: not provided | 108,937,133(-) |
G/A NM_001048210.3(CLCC1):c.1327C>T (p.Arg443Trp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 845469 | Uncertain Significance: not provided | 108,934,726(-) |
C/T NM_001377458.1(CLCC1):c.1600G>A (p.Ala534Thr) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
| 846256 | Uncertain Significance: not provided | 108,939,750(-) |
C/T NM_001048210.3(CLCC1):c.927G>A (p.Thr309=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
- CLCC1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLCC1 Gene
Disorders for CLCC1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| retinitis pigmentosa 32 |
|
|
| retinitis pigmentosa |
|
|
| chudley-mccullough syndrome |
|
|
Search CLCC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CLCC1_HUMAN- Retinitis pigmentosa 32 (RP32) [MIM:609913]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP32 inheritance is autosomal recessive. {ECO:0000269 PubMed:16189710, ECO:0000269 PubMed:30157172}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for CLCC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for CLCC1 Gene
Publications for CLCC1 Gene
- 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
- Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. (PMID: 30157172) Li L … Hejtmancik JF (PLoS genetics 2018) 3 4 74
- 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
- Regulation of the ER stress response by a mitochondrial microprotein. (PMID: 31653868) Chu Q … Saghatelian A (Nature communications 2019) 3 4
- Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41
ExternalLinks
Products for CLCC1 Gene
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