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Aliases for CLTC Gene

Aliases for CLTC Gene

  • Clathrin, Heavy Chain (Hc) 2 3
  • 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 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 (Hc)) is a Protein Coding gene. Diseases associated with CLTC include inflammatory myofibroblastic tumor and translocation renal cell carcinoma. Among its related pathways are Signaling by GPCR and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include structural molecule activity.

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

Genomic Location for CLTC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys163, Lys367, Lys389, Lys453, Lys507, Lys619, Lys798, Lys856, Lys881, Lys911, Lys941, Lys1034, Lys1074, Lys1179, Lys1215, Lys1347, Lys1443, Lys1449, and Lys1501
  • Modification sites at PhosphoSitePlus

Other Protein References for CLTC Gene

No data available for DME Specific Peptides for CLTC Gene

Domains for CLTC Gene

Suggested Antigen Peptide Sequences for CLTC Gene

Graphical View of Domain Structure for InterPro Entry

Q00610

UniProtKB/Swiss-Prot:

CLH1_HUMAN :
  • Q00610
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:0003725 double-stranded RNA binding IDA 21266579
GO:0005198 structural molecule activity NAS 1765375
GO:0005488 binding --
GO:0005515 protein binding IPI 12429846
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with CLTC: view

Phenotypes for CLTC Gene

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

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
extracellular 5
cytosol 4
golgi apparatus 2
mitochondrion 2
plasma membrane 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion --
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 for CLTC Gene

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

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 NAS 1765375
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006898 receptor-mediated endocytosis IMP 15858577
GO:0007067 mitotic nuclear division IMP 15858577
genes like me logo Genes that share ontologies with CLTC: view

Compounds for CLTC Gene

(1) HMDB Compounds for CLTC Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with CLTC: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia CLTC 35
  • 99.78 (n)
  • 99.94 (a)
CLTC 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CLTC 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 99 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Cltc 35
  • 91.22 (n)
  • 99.7 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.23823 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cltc 35
  • 81.99 (n)
  • 98.45 (a)
Str.11060 35
zebrafish
(Danio rerio)
Actinopterygii CLTC (2 of 3) 36
  • 78 (a)
OneToMany
cltca 36
  • 95 (a)
OneToMany
cltcb 35
  • 78.97 (n)
  • 95.7 (a)
cltcb 36
  • 95 (a)
OneToMany
wufc49a11 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003021 35
  • 67.13 (n)
  • 81.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta Chc 35
  • 67.91 (n)
  • 80.35 (a)
Chc 36
  • 79 (a)
OneToMany
Chc 37
  • 80 (a)
worm
(Caenorhabditis elegans)
Secernentea chc-1 35
  • 64.92 (n)
  • 71.98 (a)
chc-1 36
  • 71 (a)
OneToMany
T20G5.1 37
  • 71 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER359W 35
  • 53.86 (n)
  • 48.9 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 35
  • 55.51 (n)
  • 50.21 (a)
CHC1 36
  • 49 (a)
OneToMany
CHC1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09911g 35
  • 54.62 (n)
  • 49.51 (a)
soybean
(Glycine max)
eudicotyledons Gma.5822 35
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08530 35
  • 58.85 (n)
  • 56.99 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.1410 35
wheat
(Triticum aestivum)
Liliopsida Ta.5000 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 intestinalis)
Ascidiacea Cin.4438 35
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

Selected SIMAP similar genes for CLTC Gene using alignment to 8 proteins:

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

No data available for Paralogs for CLTC Gene

Variants for CLTC Gene

Sequence variations from dbSNP and Humsavar for CLTC Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs10562 -- 59,694,963(-) TGGTT(C/T)TTTAG utr-variant-3-prime, downstream-variant-500B
rs870521 -- 59,662,317(+) ACTCA(A/G)TACTT intron-variant
rs907065 -- 59,662,902(-) TAATA(A/G)GGTCT intron-variant
rs907066 -- 59,662,714(-) TCCAA(A/G)TATCC intron-variant
rs1060666 -- 59,694,659(+) AGATC(A/C)CTGAG utr-variant-3-prime

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

Relevant External Links for CLTC Gene

HapMap Linkage Disequilibrium report
CLTC
Human Gene Mutation Database (HGMD)
CLTC

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

Disorders for CLTC Gene

(4) University of Copenhagen DISEASES for CLTC Gene

Relevant External Links for CLTC

Genetic Association Database (GAD)
CLTC
Human Genome Epidemiology (HuGE) Navigator
CLTC
genes like me logo Genes that share disorders with CLTC: view

No data available for UniProtKB/Swiss-Prot 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
  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
  3. Endosomal transport of ErbB-2: mechanism for nuclear entry of the cell surface receptor. (PMID: 16314522) Giri D.K. … Hung M.C. (Mol. Cell. Biol. 2005) 3 4
  4. Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PMID: 17081065) Chi A. … Hunt D.F. (J. Proteome Res. 2006) 3 4
  5. The huntingtin interacting protein HIP1 is a clathrin and alpha- adaptin-binding protein involved in receptor-mediated endocytosis. (PMID: 11532990) Waelter S. … Wanker E.E. (Hum. Mol. Genet. 2001) 3 4

Products for CLTC Gene

  • Addgene plasmids for CLTC

Sources for CLTC Gene

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