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This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cy... See more...
Aliases for CTC1 Gene
Aliases for CTC1 Gene
- CST Telomere Replication Complex Component 1 2 3 5
- CST Telomere Maintenance Complex Component 1 2 3
- Conserved Telomere Maintenance Component 1 2 4
- Conserved Telomere Capping Protein 1 2 3
- HBV DNAPTP1-Transactivated Protein B 3 4
- Alpha Accessory Factor 132 2 3
- CST Complex Subunit CTC1 3 4
- Tmp494178 2 3
External Ids for CTC1 Gene
- HGNC: 26169
- Entrez Gene: 80169
- Ensembl: ENSG00000178971
- OMIM: 613129
- UniProtKB: Q2NKJ3
Previous HGNC Symbols for CTC1 Gene
- C17orf68
Previous GeneCards Identifiers for CTC1 Gene
- GC17M008139
- GC17M008145
- GC17M008149
- GC17M008154
- GC17M008161
- GC17M008174
- GC17M008207
- GC17M008247
- GC17M008283
- GC17M008613
- GC17M008657
- GC17M008686
- GC17M008779
- GC17M008323
- GC17M008357
- GC17M008397
- GC17M008428
- GC17M008464
- GC17M008502
- GC17M008534
- GC17M008569
Summaries for CTC1 Gene
-
This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
GeneCards Summary for CTC1 Gene
CTC1 (CST Telomere Replication Complex Component 1) is a Protein Coding gene. Diseases associated with CTC1 include Cerebroretinal Microangiopathy With Calcifications And Cysts 1 and Dyskeratosis Congenita. Gene Ontology (GO) annotations related to this gene include single-stranded DNA binding.
UniProtKB/Swiss-Prot Summary for CTC1 Gene
-
Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity).
Additional gene information for CTC1 Gene
- HGNC(26169)
- Entrez Gene(80169)
- Ensembl(ENSG00000178971)
- OMIM(613129)
- UniProtKB(Q2NKJ3)
- Open Targets Platform(ENSG00000178971)
- Monarch Initiative
- Search for CTC1 at DataMed
- Search for CTC1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTC1 Gene
Genomics for CTC1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CTC1 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 CTC1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTC1
Genomic Locations for CTC1 Gene
Genomic Locations for CTC1 Gene
- chr17:8,224,815-8,248,079
- (GRCh38/hg38)
- Size:
- 23,265 bases
- Orientation:
- Minus strand
- chr17:8,128,139-8,151,413
- (GRCh37/hg19)
- Size:
- 23,275 bases
- Orientation:
- Minus strand
Genomic View for CTC1 Gene
Genes around CTC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p13.1 by HGNC
- 17p13.1 by Entrez Gene
- 17p13.1 by Ensembl
CTC1 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 CTC1 Gene
Proteins for CTC1 Gene
-
Protein details for CTC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q2NKJ3-CTC1_HUMAN
- Recommended name:
- CST complex subunit CTC1
- Protein Accession:
- Q2NKJ3
- B3KR66
- C9JEX5
- Q1PCD1
- Q2TBE3
- Q8N3S6
- Q9H6L0
Protein attributes for CTC1 Gene
- Size:
- 1217 amino acids
- Molecular mass:
- 134609 Da
- Quaternary structure:
-
- Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1; in the complex interacts directly with STN1. Interacts with ACD and POT1.
- SequenceCaution:
-
- Sequence=BAB15247.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38600.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Protein Expression for CTC1 Gene
Post-translational modifications for CTC1 Gene
Other Protein References for CTC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CTC1 Antibody
- Creative Diagnostics Anti-CTC1 (aa 774-803) polyclonal antibody
- Invitrogen Antibodies for CTC1 (AFLGC-CTC1)
- antibodies-online: Show 7 available CTC1 Antibodies ranked by validation data
- Compare Top CTC1 Antibodies
-
Quality Products:
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CTC1
- Origene Custom Protein Services for CTC1
- antibodies-online: Search results for available CTC1 related products ranked by validation data
No data available for DME Specific Peptides for CTC1 Gene
Domains & Families for CTC1 Gene
Gene Families for CTC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for CTC1 Gene
- GenScript: Design optimal peptide antigens:
-
- HBV DNAPTP1-transactivated protein B (CTC1_HUMAN)
- Conserved telomere capping protein 1 (D3U719_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q2NKJ3- Family:
-
- Belongs to the CTC1 family.
Function for CTC1 Gene
Molecular function for CTC1 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity).
Phenotypes From GWAS Catalog for CTC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003697 | single-stranded DNA binding | IEA,ISS | -- |
| GO:0005515 | protein binding | IPI | 19854130 |
| GO:0042162 | telomeric DNA binding | IDA | 19854130 |
| GO:0098505 | G-rich strand telomeric DNA binding | IDA | 22763445 |
Phenotypes for CTC1 Gene
- MGI mutant phenotypes for CTC1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CTC1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CTC1 - Select products 50% OFF >
- * CTC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CTC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTC1
miRNA for CTC1 Gene
- miRTarBase miRNAs that target CTC1
-
- hsa-miR-1274a (MIRT035838)
- hsa-miR-106b-3p (MIRT038559)
- hsa-miR-7-1-3p (MIRT038679)
- hsa-miR-93-3p (MIRT038786)
- hsa-miR-769-5p (MIRT039186)
- hsa-miR-421 (MIRT039400)
- hsa-miR-652-3p (MIRT039476)
- hsa-miR-615-3p (MIRT040272)
- hsa-miR-92b-3p (MIRT040539)
- hsa-miR-181d-5p (MIRT041173)
- hsa-miR-331-3p (MIRT043267)
- hsa-miR-29c-3p (MIRT044235)
- hsa-miR-100-5p (MIRT048592)
- hsa-miR-99a-5p (MIRT048685)
- hsa-miR-93-5p (MIRT048774)
- hsa-miR-92a-3p (MIRT048968)
- hsa-miR-26a-5p (MIRT050102)
- hsa-miR-25-3p (MIRT050328)
- hsa-let-7e-5p (MIRT051436)
- hsa-miR-3615 (MIRT052856)
- hsa-miR-3676-3p (MIRT052874)
- hsa-miR-5682 (MIRT478665)
- hsa-miR-610 (MIRT478666)
- hsa-miR-6871-3p (MIRT478667)
- hsa-miR-29b-3p (MIRT478668)
- hsa-miR-29a-3p (MIRT478669)
- hsa-miR-6506-5p (MIRT494137)
- hsa-miR-5089-5p (MIRT494138)
- hsa-miR-619-5p (MIRT494139)
- hsa-miR-3653-5p (MIRT494140)
- hsa-miR-1976 (MIRT494141)
- hsa-miR-6840-3p (MIRT494142)
- hsa-miR-1266-3p (MIRT494143)
- hsa-miR-4484 (MIRT494144)
- hsa-miR-6768-3p (MIRT494145)
- hsa-miR-548an (MIRT494146)
- hsa-miR-124-3p (MIRT494147)
- hsa-miR-28-3p (MIRT494148)
- hsa-miR-3175 (MIRT502655)
- hsa-miR-1290 (MIRT502656)
- hsa-miR-4749-5p (MIRT502657)
- hsa-miR-4706 (MIRT502658)
- hsa-miR-2277-5p (MIRT502659)
- hsa-miR-4479 (MIRT502660)
- hsa-miR-554 (MIRT502661)
- hsa-miR-6889-5p (MIRT502662)
- hsa-miR-6777-5p (MIRT502663)
- hsa-miR-1539 (MIRT502664)
- hsa-miR-1246 (MIRT502665)
- hsa-miR-4517 (MIRT502666)
- hsa-miR-4757-3p (MIRT502667)
- hsa-miR-876-5p (MIRT502668)
- hsa-miR-3167 (MIRT502669)
- hsa-miR-585-5p (MIRT502670)
- hsa-miR-4745-3p (MIRT502671)
- hsa-miR-1538 (MIRT502672)
- hsa-miR-193b-3p (MIRT502673)
- hsa-miR-193a-3p (MIRT502674)
- hsa-miR-6813-3p (MIRT502675)
- hsa-miR-212-5p (MIRT502676)
- hsa-miR-4637 (MIRT512074)
- hsa-miR-3188 (MIRT513952)
- hsa-miR-6880-3p (MIRT513953)
- hsa-miR-6785-3p (MIRT513954)
- hsa-miR-6776-3p (MIRT513955)
- hsa-miR-552-5p (MIRT524300)
- hsa-miR-5590-5p (MIRT524301)
- hsa-miR-5585-3p (MIRT524302)
- hsa-miR-302d-5p (MIRT524303)
- hsa-miR-302b-5p (MIRT524304)
- hsa-miR-6817-5p (MIRT524305)
- hsa-miR-4769-3p (MIRT524306)
- hsa-miR-4305 (MIRT524307)
- hsa-miR-22-3p (MIRT524308)
- hsa-miR-4524b-3p (MIRT524309)
- hsa-miR-2909 (MIRT524310)
- hsa-miR-1296-5p (MIRT524311)
- hsa-miR-181a-3p (MIRT524312)
- hsa-miR-3158-3p (MIRT524313)
- hsa-miR-4446-3p (MIRT524314)
- hsa-miR-5088-5p (MIRT524315)
- hsa-miR-3185 (MIRT538289)
- hsa-miR-3613-3p (MIRT538290)
- hsa-miR-3692-3p (MIRT723666)
- hsa-miR-874-3p (MIRT723667)
- hsa-miR-6886-3p (MIRT723668)
- hsa-miR-938 (MIRT723669)
- hsa-miR-146b-3p (MIRT723670)
- hsa-miR-6799-3p (MIRT723671)
- hsa-miR-3173-5p (MIRT723672)
- hsa-miR-7976 (MIRT723673)
- hsa-miR-18a-3p (MIRT723674)
- hsa-miR-6752-3p (MIRT723675)
- hsa-miR-4733-3p (MIRT723676)
- hsa-miR-371b-3p (MIRT723677)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTC1
- Browse OriGene Inhibitory RNA Products For CTC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTC1
Clone Products
- Applied Biological Materials (abm): Clones for CTC1 - Select products 50% OFF >
- * CTC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CTC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTC1
Cell Line Products
-
Horizon Cell Lines for CTC1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CTC1 Gene
Localization for CTC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CTC1 Gene
- Nucleus. Chromosome, telomere. Note=A transmembrane region is predicted by sequence analysis tools (ESKW, MEMSAT and Phobius); however, given the telomeric localization of the protein, the relevance of the transmembrane region is unsure in vivo. {ECO:0000305}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 0 |
| endoplasmic reticulum | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000781 | chromosome, telomeric region | IEA | -- |
| GO:0000784 | nuclear chromosome, telomeric region | IDA | 19854130 |
| GO:0005634 | nucleus | ISS | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:1990879 | CST complex | IBA,ISS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CTC1 Gene
Pathways & Interactions for CTC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000723 | telomere maintenance | IMP | 19854131 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0007568 | aging | IEA | -- |
| GO:0010389 | regulation of G2/M transition of mitotic cell cycle | IEA | -- |
| GO:0010833 | telomere maintenance via telomere lengthening | IBA | 21873635 |
No data available for Pathways by source and SIGNOR curated interactions for CTC1 Gene
Transcripts for CTC1 Gene
mRNA/cDNA for CTC1 Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000449476 4795 nts (view in UCSC)
- ENST00000578240 1653 nts (view in UCSC)
- ENST00000578441 781 nts (view in UCSC)
- ENST00000578537 943 nts (view in UCSC)
- ENST00000579066 514 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CTC1 - Select products 50% OFF >
- * CTC1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CTC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTC1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CTC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTC1
- Browse OriGene Inhibitory RNA Products For CTC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTC1
Clone Products
- Applied Biological Materials (abm): Clones for CTC1 - Select products 50% OFF >
- * CTC1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CTC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTC1
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 17b | · | 17c | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | · | 24c | · | 24d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||
| SP10: |
Relevant External Links for CTC1 Gene
- GeneLoc Exon Structure for
- CTC1
Expression for CTC1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (55.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTC1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTC1
SOURCE GeneReport for Unigene cluster for CTC1 Gene:
Hs.156055Evidence on tissue expression from TISSUES for CTC1 Gene
- Nervous system(4.6)
- Kidney(4.4)
- Muscle(4.3)
- Intestine(2.4)
- Bone marrow(2.3)
- Skin(2.1)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CTC1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- lacrimal apparatus
- mandible
- maxilla
- mouth
- neck
- pharynx
- salivary gland
- scalp
- skull
- tooth
Thorax:
- breast
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- rectum
- testicle
- urethra
- urinary bladder
- uterus
- vagina
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CTC1
-
OriGene qPCR primer pairs and template standards for CTC1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CTC1 Gene
Orthologs for CTC1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CTC1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CTC1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CTC1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ctc1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ctc1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | CTC1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CTC1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CTC1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CTC1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ctc1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ctc1 30 31 |
|
OneToOne |
- Species where no ortholog for CTC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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 CTC1 Gene
- ENSEMBL:
- Gene Tree for CTC1 (if available)
- TreeFam:
- Gene Tree for CTC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CTC1: view image
Paralogs for CTC1 Gene
No data available for Paralogs for CTC1 Gene
Variants for CTC1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTC1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 636378 | Uncertain Significance: not provided | 8,243,078(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 638997 | Uncertain Significance: Dyskeratosis congenita | 8,228,861(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 639506 | Uncertain Significance: Dyskeratosis congenita | 8,236,083(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 641506 | Uncertain Significance: Dyskeratosis congenita | 8,230,399(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 641923 | Uncertain Significance: Dyskeratosis congenita | 8,232,992(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2676105 | CNV | deletion | 23128226 |
| esv2715611 | CNV | deletion | 23290073 |
| nsv1113847 | CNV | deletion | 24896259 |
| nsv1113848 | CNV | deletion | 24896259 |
| nsv472391 | CNV | novel sequence insertion | 20440878 |
| nsv833353 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.26;
62.48% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CTC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTC1 Gene
Disorders for CTC1 Gene
(12) MalaCards diseases for CTC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cerebroretinal microangiopathy with calcifications and cysts 1 |
|
|
| dyskeratosis congenita |
|
|
| retinal telangiectasia |
|
|
| coats disease |
|
|
| revesz syndrome |
|
|
Search CTC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CTC1_HUMAN- Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199]: An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia. {ECO:0000269 PubMed:22267198, ECO:0000269 PubMed:22387016}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CTC1
No data available for Genatlas for CTC1 Gene
Publications for CTC1 Gene
- Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. (PMID: 19854131) Surovtseva YV … Shippen DE (Molecular cell 2009) 2 3 4
- RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. (PMID: 19854130) Miyake Y … Ishikawa F (Molecular cell 2009) 2 3 4
- The human CST complex is a terminator of telomerase activity. (PMID: 22763445) Chen LY … Lingner J (Nature 2012) 3 4
- Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. (PMID: 22267198) Anderson BH … Crow YJ (Nature genetics 2012) 3 4
- Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. (PMID: 22387016) Polvi A … Lehesjoki AE (American journal of human genetics 2012) 3 4
ExternalLinks
Products for CTC1 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CTC1
- Origene Custom Protein Services for CTC1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CTC1
- Browse OriGene Inhibitory RNA Products For CTC1
- OriGene qPCR primer pairs for CTC1
- OriGene qPCR primer pairs and template standards for CTC1
- OriGene CRISPR knockouts for CTC1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CTC1
- Sino Biological Human cDNA Clone for CTC1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Invitrogen Antibodies for CTC1 (AFLGC-CTC1)
- VectorBuilder Custom and pre-made DNA vectors for CTC1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CTC1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CTC1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CTC1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CTC1
- antibodies-online: Show 7 available CTC1 Antibodies ranked by validation data
- Compare Top CTC1 Antibodies
- Quality Products:
- antibodies-online: Search results for available CTC1 related products ranked by validation data
- antibodies-online: Search results for available CTC1 related products ranked by validation data
- Horizon Cell Lines for CTC1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CTC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CTC1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CTC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTC1
Sources for CTC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO