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Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by R... See more...
Aliases for CLTC Gene
Aliases for CLTC Gene
External Ids for CLTC Gene
- HGNC: 2092
- Entrez Gene: 1213
- Ensembl: ENSG00000141367
- OMIM: 118955
- UniProtKB: Q00610
Previous HGNC Symbols for CLTC Gene
- CLTCL2
Previous GeneCards Identifiers for CLTC Gene
- GC17P057433
- GC17P060146
- GC17P058039
- GC17P058171
- GC17P055052
- GC17P057697
- GC17P053069
Summaries for CLTC Gene
-
Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]
GeneCards Summary for CLTC Gene
CLTC (Clathrin Heavy Chain) is a Protein Coding gene. Diseases associated with CLTC include Mental Retardation, Autosomal Dominant 56 and Renal Cell Carcinoma, Xp11-Associated. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is CLTCL1.
UniProtKB/Swiss-Prot Summary for CLTC Gene
-
Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872).
Additional gene information for CLTC Gene
- HGNC(2092)
- Entrez Gene(1213)
- Ensembl(ENSG00000141367)
- OMIM(118955)
- UniProtKB(Q00610)
- Open Targets Platform(ENSG00000141367)
- Monarch Initiative
- Search for CLTC at DataMed
- Search for CLTC at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLTC Gene
Genomics for CLTC Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CLTC 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 CLTC on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLTC
- Top Transcription factor binding sites by QIAGEN in the CLTC gene promoter:
-
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
- MyoD
- STAT1
Genomic Locations for CLTC Gene
Genomic Locations for CLTC Gene
- chr17:59,619,689-59,696,956
- (GRCh38/hg38)
- Size:
- 77,268 bases
- Orientation:
- Plus strand
- chr17:57,697,050-57,774,317
- (GRCh37/hg19)
- Size:
- 77,268 bases
- Orientation:
- Plus strand
Genomic View for CLTC Gene
Genes around CLTC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q23.1 by HGNC
- 17q23.1 by Entrez Gene
- 17q23.1 by Ensembl
CLTC 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 CLTC Gene
Proteins for CLTC Gene
-
Protein details for CLTC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q00610-CLH1_HUMAN
- Recommended name:
- Clathrin heavy chain 1
- Protein Accession:
- Q00610
- D3DU00
- Q6N0A0
- Q86TF2
Protein attributes for CLTC Gene
- Size:
- 1675 amino acids
- Molecular mass:
- 191615 Da
- Quaternary structure:
-
- Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat (PubMed:16968737). In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium. Interacts with HIP1 (PubMed:11532990). Interacts with DENND1A, DENND1B and DENND1C (By similarity). May interact with OCRL (By similarity). Interacts with ERBB2 (PubMed:16314522). Interacts with FKBP6 (PubMed:18529014). Interacts with CKAP5 and TACC3 forming the TACC3/ch-TOG/clathrin complex located at spindle inter-microtubules bridges; the complex implicates clathrin triskelions; TACC3 and CLTC are proposed to form a composite microtubule interaction surface (PubMed:21297582). Interacts with ATG16L1 (via N-terminus) (PubMed:20639872). Interacts with RFTN1; the interaction occurs in response to pathogens (PubMed:27022195, PubMed:21266579). Interacts with USP2 isoform 4 (PubMed:26756164).
- SequenceCaution:
-
- Sequence=BAA04801.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for CLTC Gene
Protein Expression for CLTC Gene
Post-translational modifications for CLTC Gene
Other Protein References for CLTC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CLTC / Clathrin Heavy Chain Antibody
-
Custom Antibody ServicesOriGene Antibodies for CLTC
- Novus Biologicals Antibodies for CLTC
-
Abcam antibodies for CLTC
- Invitrogen Antibodies for CLTC (AFLGC-CLTC)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CLTC
- Sino Biological Antibodies for CLTC
Protein Products
-
OriGene Purified Proteins for CLTC
- Search Origene for MassSpec and Protein Over-expression Lysates for CLTC
- Origene Custom Protein Services for CLTC
- Novus Biologicals proteins for CLTC
- antibodies-online: Search results for available CLTC related products ranked by validation data
-
ProSci Proteins for CLTC
-
Abcam proteins for CLTC
Assay Products
-
Custom Assay ServicesOriGene ELISA Kits for CLTC
- antibodies-online: Search results for available CLTC related products ranked by validation data
No data available for DME Specific Peptides for CLTC Gene
Domains & Families for CLTC Gene
Gene Families for CLTC Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CLTC Gene
- InterPro:
- Blocks:
-
- 7-Fold repeat in clathrin and VPS proteins
- ProtoNet:
Suggested Antigen Peptide Sequences for CLTC Gene
- GenScript: Design optimal peptide antigens:
-
- Clathrin heavy chain on chromosome 17 (CLH1_HUMAN)
- CLTC protein (Q49AL0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q00610UniProtKB/Swiss-Prot:
CLH1_HUMAN :- The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.
- Belongs to the clathrin heavy chain family.
- Domain:
-
- The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.
- Family:
-
- Belongs to the clathrin heavy chain family.
Function for CLTC Gene
Molecular function for CLTC Gene
- UniProtKB/Swiss-Prot Function:
- Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872).
- GENATLAS Biochemistry:
- clathrin,heavy chain 1,ubiquitously expressed,component of coated vesicles and coated pits,translocated to plasma membrane through AP2 binding,also expressed in synaptic vesicles
Phenotypes From GWAS Catalog for CLTC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0003725 | double-stranded RNA binding | IDA | 21266579 |
| GO:0005198 | structural molecule activity | IEA,NAS | 1765375 |
| GO:0005515 | protein binding | IEA,IPI | 12429846 |
| GO:0019901 | protein kinase binding | IEA,ISS | -- |
Phenotypes for CLTC Gene
- GenomeRNAi human phenotypes for CLTC:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CLTC - Select products 50% OFF >
- * CLTC 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 CLTC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLTC
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLTC
miRNA for CLTC Gene
- miRTarBase miRNAs that target CLTC
-
- mmu-miR-301b-3p (MIRT008075)
- mmu-miR-340-5p (MIRT010666)
- mmu-miR-19b-3p (MIRT012603)
- mmu-miR-297a-5p (MIRT013121)
- hsa-miR-155-5p (MIRT020878)
- hsa-miR-1-3p (MIRT023919)
- hsa-miR-99a-3p (MIRT038715)
- hsa-miR-615-3p (MIRT040142)
- hsa-miR-503-5p (MIRT041098)
- hsa-miR-484 (MIRT041695)
- hsa-miR-106b-5p (MIRT044262)
- hsa-miR-92a-3p (MIRT049256)
- hsa-miR-16-5p (MIRT051201)
- hsa-let-7e-5p (MIRT051640)
- hsa-miR-4326 (MIRT052842)
- hsa-miR-544a (MIRT440923)
- hsa-miR-543 (MIRT440924)
- hsa-miR-377-3p (MIRT440925)
- hsa-miR-381-3p (MIRT440926)
- hsa-miR-485-3p (MIRT440927)
- hsa-miR-539-3p (MIRT440928)
- hsa-miR-487a-3p (MIRT440929)
- hsa-miR-376a-5p (MIRT440930)
- hsa-miR-382-5p (MIRT440931)
- hsa-miR-6881-3p (MIRT711515)
- hsa-miR-6780a-3p (MIRT711516)
- hsa-miR-7111-3p (MIRT711517)
- hsa-miR-1236-3p (MIRT711518)
- hsa-miR-6758-3p (MIRT711519)
- hsa-miR-877-3p (MIRT711520)
- hsa-miR-6891-3p (MIRT711521)
- hsa-miR-6072 (MIRT711522)
- hsa-miR-199a-5p (MIRT733238)
- mmu-miR-153-3p (MIRT733306)
- hsa-miR-195-3p (MIRT733839)
- hsa-miR-574-3p (MIRT734025)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLTC
- Browse OriGene Inhibitory RNA Products For CLTC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLTC
Clone Products
- Applied Biological Materials (abm): Clones for CLTC - Select products 50% OFF >
- * CLTC 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 CLTC
- Addgene plasmids for CLTC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLTC
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CLTC Gene
Localization for CLTC Gene
Subcellular locations from UniProtKB/Swiss-Prot for CLTC Gene
- Cytoplasmic vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Membrane, coated pit. Peripheral membrane protein. Cytoplasmic side. Melanosome. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic face of coated pits and vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In complex with TACC3 and CKAP5 (forming the TACC3/ch-TOG/clathrin complex) localized to inter-microtubule bridges in mitotic spindles. {ECO:0000269 PubMed:25596274}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| endosome | 5 |
| cytosol | 5 |
| extracellular | 4 |
| lysosome | 4 |
| golgi apparatus | 4 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| peroxisome | 1 |
- Endosomes (4)
- Lysosomes (4)
- Vesicles (4)
- Mitotic spindle (3)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005764 | lysosome | IDA | -- |
| GO:0005768 | endosome | IDA | -- |
| GO:0005819 | spindle | IBA,IDA | 15858577 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for CLTC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gap junction trafficking | ||
| 2 | Lipoprotein metabolism | ||
| 3 | Endocytic Trafficking of EGFR |
Endocytic Trafficking of EGFR
.41
|
Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
.35
|
| 4 | Regulation of activated PAK-2p34 by proteasome mediated degradation |
.69
|
|
| 5 | Clathrin derived vesicle budding | ||
Pathways by source for CLTC Gene
1 Sino Biological pathway for CLTC Gene
4 BioSystems pathways for CLTC Gene
42 Reactome pathways for CLTC Gene
6 KEGG pathways for CLTC Gene
5 GeneGo (Thomson Reuters) pathways for CLTC Gene
- Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
- Development Angiotensin signaling via beta-Arrestin
- Transport Clathrin-coated vesicle cycle
- wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
- wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 R&D Systems pathway for CLTC Gene
3 Qiagen pathways for CLTC Gene
- CTLA4 Signaling
- Endocytic Trafficking of EGFR
- Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for CLTC Gene
Interacting Proteins for CLTC Gene
Selected Interacting proteins:
Q00610-CLH1_HUMAN
ENSP00000479606
for CLTC Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CLTC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000278 | mitotic cell cycle | IMP | 15858577 |
| GO:0001649 | osteoblast differentiation | HDA | 16210410 |
| GO:0006886 | intracellular protein transport | IEA,NAS | 1765375 |
| GO:0006898 | receptor-mediated endocytosis | IMP | 15858577 |
| GO:0006914 | autophagy | IEA | -- |
Drugs & Compounds for CLTC Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Calcium | Nutra | 6556 |
Transcripts for CLTC Gene
mRNA/cDNA for CLTC Gene
- 2 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000393043 5292 nts (view in UCSC)
- ENST00000269122 8369 nts (view in UCSC)
- ENST00000580081 575 nts (view in UCSC)
- ENST00000579456 2301 nts (view in UCSC)
- ENST00000584313 715 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CLTC - Select products 50% OFF >
- * CLTC 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 CLTC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLTC
-
Santa Cruz Biotechnology (SCBT) CRISPR for CLTC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLTC
- Browse OriGene Inhibitory RNA Products For CLTC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLTC
Clone Products
- Applied Biological Materials (abm): Clones for CLTC - Select products 50% OFF >
- * CLTC 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 CLTC
- Addgene plasmids for CLTC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLTC
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| ExUns: | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33a | · | 33b | ^ | 34a | · | 34b | · | 34c | ^ | 35a | · | 35b | · | 35c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - |
Relevant External Links for CLTC Gene
- GeneLoc Exon Structure for
- CLTC
Expression for CLTC Gene
This gene is overexpressed in Frontal cortex (6.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLTC Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLTC
SOURCE GeneReport for Unigene cluster for CLTC Gene:
Hs.491351Evidence on tissue expression from TISSUES for CLTC Gene
- Heart(5)
- Liver(5)
- Nervous system(5)
- Blood(4.9)
- Intestine(4.8)
- Eye(4.5)
- Bone marrow(4.5)
- Kidney(4.3)
- Skin(4.2)
- Adrenal gland(4.2)
- Lung(4.2)
- Pancreas(4)
- Muscle(3.7)
- Gall bladder(3.3)
- Spleen(2.8)
- Lymph node(2.7)
- Stomach(2.6)
- Thyroid gland(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CLTC Gene
Germ Layers:
- mesoderm
Systems:
- urinary
Regions:
Abdomen:
- kidney
Primer Products
-
OriGene qPCR primer pairs for CLTC
-
OriGene qPCR primer pairs and template standards for CLTC
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 CLTC Gene
Orthologs for CLTC Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Oppossum (Monodelphis domestica) |
Mammalia | CLTC 31 |
|
OneToOne | |
| Chimpanzee (Pan troglodytes) |
Mammalia | CLTC 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Dog (Canis familiaris) |
Mammalia | CLTC 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CLTC 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Cltc 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cltc 30 |
|
||
| Chicken (Gallus gallus) |
Aves | CLTC 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CLTC 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cltc 30 |
|
||
| Str.11060 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23823 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cltca 31 |
|
OneToMany | |
| cltcb 30 31 |
|
OneToMany | |||
| CLTC (2 of 3) 31 |
|
OneToMany | |||
| wufc49a11 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Chc 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003021 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | T20G5.1 32 |
|
|
|
| chc-1 30 31 |
|
OneToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CHC1 30 31 33 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09911g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AER359W 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G08530 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.5822 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.1410 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.5000 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1583 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU02510 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | chc1 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4438 30 |
|
- Species where no ortholog for CLTC was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- 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 Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for CLTC Gene
- ENSEMBL:
- Gene Tree for CLTC (if available)
- TreeFam:
- Gene Tree for CLTC (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CLTC: view image
Paralogs for CLTC Gene
Variants for CLTC Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLTC Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 684513 | Not Provided: CLTC-Related Disorder | 59,648,402(+) | G/GT | SPLICE_DONOR_VARIANT | |
| 689651 | Uncertain Significance: Intellectual disability, autosomal dominant 56 | 59,661,470(+) | C/T | MISSENSE_VARIANT | |
| 717065 | Likely Benign: not provided | 59,668,768(+) | T/C | INTRON_VARIANT | |
| 786952 | Benign: not provided | 59,679,388(+) | C/T | INTRON_VARIANT | |
| 803445 | Uncertain Significance: Intellectual disability, autosomal dominant 56 | 59,681,783(+) | T/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3272n100 | CNV | gain | 25217958 |
| esv2672443 | CNV | deletion | 23128226 |
| esv3640907 | CNV | loss | 21293372 |
| esv3640908 | CNV | loss | 21293372 |
| esv3640909 | CNV | loss | 21293372 |
| nsv1067453 | CNV | gain | 25217958 |
| nsv575805 | CNV | gain | 21841781 |
| nsv833501 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
1.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.95;
19.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CLTC Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLTC Gene
Disorders for CLTC Gene
(15) MalaCards diseases for CLTC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 56 |
|
|
| renal cell carcinoma, xp11-associated |
|
|
| inflammatory myofibroblastic tumor |
|
|
| undetermined early-onset epileptic encephalopathy |
|
|
| autosomal dominant non-syndromic intellectual disability |
|
|
Search CLTC in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CLH1_HUMAN- Mental retardation, autosomal dominant 56 (MRD56) [MIM:617854]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:26822784, ECO:0000269 PubMed:29100083}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CLTC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CLTC Gene
Publications for CLTC Gene
- Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4
- Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter. (PMID: 1765375) Dodge GR … Iozzo RV (Genomics 1991) 2 3 4
- USP2-45 Is a Circadian Clock Output Effector Regulating Calcium Absorption at the Post-Translational Level. (PMID: 26756164) Pouly D … Staub O (PloS one 2016) 3 4
- Raftlin is involved in the nucleocapture complex to induce poly(I:C)-mediated TLR3 activation. (PMID: 21266579) Watanabe A … Matsumoto M (The Journal of biological chemistry 2011) 3 4
- A TACC3/ch-TOG/clathrin complex stabilises kinetochore fibres by inter-microtubule bridging. (PMID: 21297582) Booth DG … Royle SJ (The EMBO journal 2011) 3 4
ExternalLinks
Products for CLTC Gene
- Custom Antibody ServicesOriGene Antibodies for CLTC
- Custom Assay ServicesOriGene ELISA Kits for CLTC
- OriGene Purified Proteins for CLTC
- Search Origene for MassSpec and Protein Over-expression Lysates for CLTC
- Origene Custom Protein Services for CLTC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CLTC
- Browse OriGene Inhibitory RNA Products For CLTC
- OriGene qPCR primer pairs for CLTC
- OriGene qPCR primer pairs and template standards for CLTC
- OriGene CRISPR knockouts for CLTC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CLTC
- Sino Biological Human cDNA Clone for CLTC
- Browse Sino Biological Recombinant Proteins
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- Sino Biological Antibodies for CLTC
- Browse Sino Biological Assays
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins for CLTC
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- Invitrogen Antibodies for CLTC (AFLGC-CLTC)
- VectorBuilder Custom and pre-made DNA vectors for CLTC (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CLTC (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CLTC (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CLTC CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CLTC
- Addgene plasmids for CLTC
- antibodies-online: Show 23 available CLTC Antibodies ranked by validation data
- Compare Top CLTC Antibodies
- Quality Products:
- antibodies-online: Search results for available CLTC related products ranked by validation data
- antibodies-online: Search results for available CLTC related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for CLTC
- Search Santa Cruz Biotechnology (SCBT) for CLTC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CLTC
- Search for CLTC Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for CLTC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CLTC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CLTC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CLTC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLTC
Sources for CLTC 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
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136)