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Aliases for CLTC Gene

Aliases for CLTC Gene

  • Clathrin Heavy Chain 2 3
  • Clathrin, Heavy Chain (Hc) 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 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 Translocation Renal Cell Carcinoma. Among its related pathways are CTLA4 Signaling and Bacterial invasion of epithelial cells. 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.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around CLTC on UCSC Golden Path with GeneCards custom track

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. In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium. Interacts with HIP1. Interacts with DENND1A, DENND1B and DENND1C (By similarity). May interact with OCRL. Interacts with ERBB2 (By similarity). Interacts with FKBP6.
    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

Proteomics data for CLTC Gene at MOPED

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 consitutes 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 consitutes 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.

Gene Ontology (GO) - Molecular Function for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
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

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. Note=Cytoplasmic face of coated pits and vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

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:0005739 mitochondrion IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0030117 membrane coat IEA --
GO:0030136 clathrin-coated vesicle IDA 19478182
GO:0043209 myelin sheath IEA --
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:0031623 receptor internalization IMP 14985334
GO:0042147 retrograde transport, endosome to Golgi IMP 20065094
GO:0061024 membrane organization TAS --
GO:1903077 negative regulation of protein localization to plasma membrane IMP 19581412
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:

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 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, MOPED, and MaxQB for CLTC Gene



SOURCE GeneReport for Unigene cluster for CLTC Gene Hs.491351

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

Protein tissue co-expression partners for CLTC Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia CLTC 35
  • 94.03 (n)
  • 99.88 (a)
CLTC 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLTC 35
  • 95.28 (n)
  • 99.88 (a)
CLTC 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cltc 35
  • 92.02 (n)
  • 99.82 (a)
Cltc 16
Cltc 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLTC 35
  • 99.78 (n)
  • 99.94 (a)
CLTC 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cltc 35
  • 91.22 (n)
  • 99.7 (a)
oppossum
(Monodelphis domestica)
Mammalia CLTC 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
chicken
(Gallus gallus)
Aves CLTC 35
  • 84.02 (n)
  • 99.1 (a)
CLTC 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLTC 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cltc 35
  • 81.99 (n)
  • 98.45 (a)
Str.11060 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.23823 35
zebrafish
(Danio rerio)
Actinopterygii cltcb 35
  • 78.97 (n)
  • 95.7 (a)
wufc49a11 35
CLTC (2 of 3) 36
  • 78 (a)
OneToMany
cltca 36
  • 95 (a)
OneToMany
cltcb 36
  • 95 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Chc 37
  • 80 (a)
Chc 35
  • 67.91 (n)
  • 80.35 (a)
Chc 36
  • 79 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003021 35
  • 67.13 (n)
  • 81.22 (a)
worm
(Caenorhabditis elegans)
Secernentea T20G5.1 37
  • 71 (a)
chc-1 35
  • 64.92 (n)
  • 71.98 (a)
chc-1 36
  • 71 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER359W 35
  • 53.86 (n)
  • 48.9 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09911g 35
  • 54.62 (n)
  • 49.51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 35
  • 55.51 (n)
  • 50.21 (a)
CHC1 36
  • 49 (a)
OneToMany
CHC1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08530 35
  • 58.85 (n)
  • 56.99 (a)
soybean
(Glycine max)
eudicotyledons Gma.5822 35
barley
(Hordeum vulgare)
Liliopsida Hv.1410 35
wheat
(Triticum aestivum)
Liliopsida Ta.5000 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4438 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02510 35
  • 57.97 (n)
  • 57.02 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes chc1 35
  • 57.62 (n)
  • 56.01 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1583 36
  • 66 (a)
OneToMany
Species with no ortholog for CLTC:
  • 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
rs10562 -- 59,694,963(-) TGGTT(C/T)TTTAG utr-variant-3-prime
rs1060666 -- 59,694,659(+) AGATC(A/C)CTGAG utr-variant-3-prime
rs1064562 -- 59,660,533(+) TGCTC(A/T)TTTTG reference, missense
rs1804076 -- 59,694,302(+) CACTG(G/T)CATAT utr-variant-3-prime
rs870521 -- 59,662,317(+) ACTCA(A/G)TACTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833501 CNV Loss 17160897
esv2672443 CNV Deletion 23128226

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

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

Disorders for CLTC Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
inflammatory myofibroblastic tumor
  • inflammatory fibrosarcoma
translocation renal cell carcinoma
  • carcinoma associated with mitf/tfe translocation
ophthalmia neonatorum
  • gonococcal conjunctivitis
tietz albinism-deafness syndrome
  • tietze's syndrome
bacterial conjunctivitis
  • purulent conjunctivitis
- 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 67
  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
  3. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  4. Connexin 31.1 degradation requires the Clathrin-mediated autophagy in NSCLC cell H1299. (PMID: 25388970) Zhu X. … Huang Y. (J. Cell. Mol. Med. 2015) 3
  5. Clathrin mediates infectious hepatitis C virus particle egress. (PMID: 25631092) Benedicto I. … Majano P.L. (J. Virol. 2015) 3

Products for CLTC Gene

Sources for CLTC Gene

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