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Aliases for CLTC Gene

Aliases for CLTC Gene

  • Clathrin Heavy Chain 2 3 5
  • Clathrin Heavy Chain On Chromosome 17 3 4
  • Clathrin, Heavy Polypeptide-Like 2 2 3
  • Clathrin, Heavy Polypeptide (Hc) 2 3
  • CLTCL2 3 4
  • CLH-17 3 4
  • Clathrin, Heavy Chain (Hc) 2
  • Clathrin Heavy Chain 1 3
  • Clathrin, Heavy Chain 2
  • KIAA0034 4
  • CHC17 3
  • CLH17 4
  • CHC 3
  • Hc 3

External Ids for CLTC Gene

Previous HGNC Symbols for CLTC Gene

  • CLTCL2

Previous GeneCards Identifiers for CLTC Gene

  • GC17P057433
  • GC17P060146
  • GC17P058039
  • GC17P058171
  • GC17P055052
  • GC17P057697
  • GC17P053069

Summaries for CLTC Gene

Entrez Gene Summary 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 Inflammatory Myofibroblastic Tumor and Renal Cell Carcinoma, Papillary. Among its related pathways are Metabolism and Gap junction trafficking. GO annotations related to this gene include poly(A) RNA binding and protein kinase binding. An important paralog of this gene is CLTCL1.

UniProtKB/Swiss-Prot 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).

Gene Wiki entry for CLTC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLTC Gene

Genomics for CLTC Gene

Regulatory Elements for CLTC Gene

Enhancers for CLTC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F060467 1.1 Ensembl ENCODE 5.7 +849.6 849604 3.0 HDGF HDAC1 PKNOX1 ARNT TBL1XR1 NFRKB RAD21 ZEB1 RFX5 CHAMP1 RPL32P32 PPM1D RPS6KB1 HEATR6 CLTC APPBP2 GC17M060489 RPL12P38
GH17F060505 1.2 Ensembl ENCODE 5.7 +886.8 886849 2.1 SIX4 BACH1 CEBPG ZNF2 ZNF316 ETV6 NFE2 MAFK NFE2L2 ZNF362 CLTC APPBP2 GC17M060506 GC17M060489
GH17F060523 0.5 ENCODE 5.7 +905.8 905823 3.3 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 KRT18P61 TBC1D3P1 TBC1D3P1-DHX40P1 DHX40P1 RPS29P21 CLTC APPBP2 GC17P060514
GH17F059824 1.4 VISTA FANTOM5 Ensembl ENCODE 5.5 +223.2 223197 36.2 MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 SP3 PPM1D RPS6KB1 NDUFB8P2 SMG8 LOC101927755 DHX40 TUBD1 VMP1 PTRH2 MIR21
GH17F059616 1.1 FANTOM5 ENCODE 0.8 0.0 -15 6.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 APPBP2 DHX40 PPM1D RPS6KB1 SMG8 PRR11 TUBD1 RNFT1 YPEL2 VMP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CLTC on UCSC Golden Path with GeneCards custom track

Promoters for CLTC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001350149 611 5001 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for CLTC Gene

Chromosome:
17
Start:
59,619,689 bp from pter
End:
59,696,956 bp from pter
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:
CLTC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLTC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).
    SequenceCaution:
    • Sequence=BAA04801.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CLTC Gene

    Alternative splice isoforms for CLTC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLTC Gene

Post-translational modifications for CLTC Gene

  • Ubiquitination at Lys 163, Lys 367, Lys 389, Lys 798, Lys 856, Lys 881, Lys 941, Lys 1074, Lys 1179, Lys 1215, and Lys 1443
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CLTC (Clathrin Heavy Chain 1/CHC17)
  • Cell Signaling Technology (CST) Antibodies for CLTC (CLTC)

No data available for DME Specific Peptides for CLTC Gene

Domains & Families for CLTC Gene

Suggested Antigen Peptide Sequences for CLTC Gene

Graphical View of Domain Structure for InterPro Entry

Q00610

UniProtKB/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.
  • Contains 7 CHCR (clathrin heavy-chain) repeats.
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.
Similarity:
  • Contains 7 CHCR (clathrin heavy-chain) repeats.
genes like me logo Genes that share domains with CLTC: view

No data available for Gene Families for CLTC Gene

Function for CLTC Gene

Molecular function for CLTC Gene

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
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).

Gene Ontology (GO) - Molecular Function for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0005198 structural molecule activity IEA,NAS 1765375
GO:0005515 protein binding IPI 12429846
GO:0019901 protein kinase binding IEA,ISS --
GO:0032051 clathrin light chain binding IPI 4066749
genes like me logo Genes that share ontologies with CLTC: view
genes like me logo Genes that share phenotypes with CLTC: view

Human Phenotype Ontology for CLTC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CLTC

Flow Cytometry Products

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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLTC Gene COMPARTMENTS Subcellular localization image for CLTC gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
endosome 4
golgi apparatus 4
lysosome 4
plasma membrane 4
vacuole 4
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA --
GO:0005819 spindle IDA 15858577
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CLTC: view

Pathways & Interactions for CLTC Gene

genes like me logo Genes that share pathways with CLTC: view

SIGNOR curated interactions for CLTC Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA 16210410
GO:0006886 intracellular protein transport IEA,NAS 1765375
GO:0006898 receptor-mediated endocytosis IMP 15858577
GO:0006914 autophagy IEA --
GO:0007067 mitotic nuclear division IMP 15858577
genes like me logo Genes that share ontologies with CLTC: view

Drugs & Compounds for CLTC Gene

(1) Drugs for CLTC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with CLTC: view

Transcripts for CLTC Gene

Unigene Clusters for CLTC Gene

Clathrin, heavy chain (Hc):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CLTC

Flow Cytometry Products

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

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
ECgene alternative splicing isoforms for
CLTC

Expression for CLTC Gene

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

Protein differential expression in normal tissues from HIPED for CLTC Gene

This gene is overexpressed in Frontal cortex (6.7).

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



Protein tissue co-expression partners for CLTC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CLTC Gene:

CLTC

SOURCE GeneReport for Unigene cluster for CLTC Gene:

Hs.491351
genes like me logo Genes that share expression patterns with CLTC: view

Primer 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.

Orthologs for CLTC Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia CLTC 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLTC 34 35
  • 99.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 99 (a)
OneToMany
-- 35
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CLTC 34 35
  • 95.28 (n)
cow
(Bos Taurus)
Mammalia CLTC 34 35
  • 94.03 (n)
mouse
(Mus musculus)
Mammalia Cltc 34 16 35
  • 92.02 (n)
rat
(Rattus norvegicus)
Mammalia Cltc 34
  • 91.22 (n)
chicken
(Gallus gallus)
Aves CLTC 34 35
  • 84.02 (n)
lizard
(Anolis carolinensis)
Reptilia CLTC 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cltc 34
  • 81.99 (n)
Str.11060 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.23823 34
zebrafish
(Danio rerio)
Actinopterygii cltca 35
  • 95 (a)
OneToMany
cltcb 34 35
  • 78.97 (n)
CLTC (2 of 3) 35
  • 78 (a)
OneToMany
wufc49a11 34
fruit fly
(Drosophila melanogaster)
Insecta Chc 36 34 35
  • 67.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003021 34
  • 67.13 (n)
worm
(Caenorhabditis elegans)
Secernentea T20G5.1 36
  • 71 (a)
chc-1 34 35
  • 64.92 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 34 35 37
  • 55.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09911g 34
  • 54.62 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER359W 34
  • 53.86 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08530 34
  • 58.85 (n)
soybean
(Glycine max)
eudicotyledons Gma.5822 34
barley
(Hordeum vulgare)
Liliopsida Hv.1410 34
wheat
(Triticum aestivum)
Liliopsida Ta.5000 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1583 35
  • 66 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU02510 34
  • 57.97 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes chc1 34
  • 57.62 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4438 34
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)

Paralogs for CLTC Gene

Paralogs for CLTC Gene

(1) SIMAP similar genes for CLTC Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CLTC: view

Variants for CLTC Gene

Sequence variations from dbSNP and Humsavar for CLTC Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs797044884 Likely pathogenic 59,677,130(+) AGAGA(-/GA)TCCAC reference, frameshift-variant
rs10221193 -- 59,632,224(+) TTAGC(C/T)GGGCG intron-variant
rs10515169 -- 59,622,876(+) TGAAG(A/G)ATCTC intron-variant
rs10515170 -- 59,670,059(+) GCCAT(C/G)ATGAA intron-variant
rs10515171 -- 59,670,178(+) ACTAC(G/T)GATTC intron-variant

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

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

Variation tolerance for CLTC Gene

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)

Relevant External Links for CLTC Gene

Human Gene Mutation Database (HGMD)
CLTC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLTC

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

Disorders for CLTC Gene

MalaCards: The human disease database

(4) MalaCards diseases for CLTC Gene - From: Orphanet and DISEASES

Disorder Aliases PubMed IDs
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
renal cell carcinoma, papillary
  • renal cell carcinoma, papillary, 1
pediatric fibrosarcoma
  • childhood fibrosarcoma
mesenchymal cell neoplasm
  • benign miscellaneous mesenchymal tumor
- elite association - COSMIC cancer census association via MalaCards
Search CLTC in MalaCards View complete list of genes associated with diseases

Relevant External Links for CLTC

Genetic Association Database (GAD)
CLTC
Human Genome Epidemiology (HuGE) Navigator
CLTC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLTC
genes like me logo Genes that share disorders with CLTC: view

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

Publications for CLTC Gene

  1. 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 Res. 1994) 2 3 4 64
  2. Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter. (PMID: 1765375) Dodge G.R. … Iozzo R.V. (Genomics 1991) 2 3 4 64
  3. A TACC3/ch-TOG/clathrin complex stabilises kinetochore fibres by inter-microtubule bridging. (PMID: 21297582) Booth D.G. … Royle S.J. (EMBO J. 2011) 3 4 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Plasma membrane contributes to the formation of pre-autophagosomal structures. (PMID: 20639872) Ravikumar B. … Rubinsztein D.C. (Nat. Cell Biol. 2010) 3 4 64

Products for CLTC Gene

Sources for CLTC Gene

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