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Aliases for CLTCL1 Gene

Aliases for CLTCL1 Gene

  • Clathrin Heavy Chain Like 1 2 3
  • Clathrin, Heavy Chain-Like 1 2 3 5
  • Clathrin Heavy Chain On Chromosome 22 3 4
  • Clathrin, Heavy Polypeptide-Like 1 2 3
  • CLH-22 3 4
  • CLTCL 3 4
  • CLH22 3 4
  • CLTD 3 4
  • Clathrin, Heavy Polypeptide D 3
  • CHC22 3

External Ids for CLTCL1 Gene

Previous HGNC Symbols for CLTCL1 Gene

  • CLTCL

Previous GeneCards Identifiers for CLTCL1 Gene

  • GC22M016107
  • GC22M017541
  • GC22M002788

Summaries for CLTCL1 Gene

Entrez Gene Summary for CLTCL1 Gene

  • This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

GeneCards Summary for CLTCL1 Gene

CLTCL1 (Clathrin Heavy Chain Like 1) is a Protein Coding gene. Diseases associated with CLTCL1 include Chromosome 22Q11.2 Microduplication Syndrome and Digeorge Syndrome. Among its related pathways are Bacterial invasion of epithelial cells and Synaptic vesicle cycle. GO annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is CLTC.

UniProtKB/Swiss-Prot for CLTCL1 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 (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CLTCL1 Gene

Genomics for CLTCL1 Gene

Regulatory Elements for CLTCL1 Gene

Enhancers for CLTCL1 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 CLTCL1 on UCSC Golden Path with GeneCards custom track

Promoters for CLTCL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CLTCL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CLTCL1 Gene

Chromosome:
22
Start:
19,179,473 bp from pter
End:
19,291,725 bp from pter
Size:
112,253 bases
Orientation:
Minus strand

Genomic View for CLTCL1 Gene

Genes around CLTCL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLTCL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLTCL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLTCL1 Gene

Proteins for CLTCL1 Gene

  • Protein details for CLTCL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53675-CLH2_HUMAN
    Recommended name:
    Clathrin heavy chain 2
    Protein Accession:
    P53675
    Secondary Accessions:
    • B7Z7U5
    • Q14017
    • Q15808
    • Q15809

    Protein attributes for CLTCL1 Gene

    Size:
    1640 amino acids
    Molecular mass:
    187030 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 (By similarity). May interact with OCRL (By similarity).

    Alternative splice isoforms for CLTCL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLTCL1 Gene

Proteomics data for CLTCL1 Gene at MOPED

Post-translational modifications for CLTCL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CLTCL1 Gene

Domains & Families for CLTCL1 Gene

Suggested Antigen Peptide Sequences for CLTCL1 Gene

Graphical View of Domain Structure for InterPro Entry

P53675

UniProtKB/Swiss-Prot:

CLH2_HUMAN :
  • The C-terminal third of the heavy chains forms the hub of the triskelion. This region contains the trimerization domain and the light-chain binding domain involved in the assembly of the clathrin lattice.
  • Belongs to the clathrin heavy chain family.
  • Contains 7 CHCR (clathrin heavy-chain) repeats.
Domain:
  • The C-terminal third of the heavy chains forms the hub of the triskelion. This region contains the trimerization domain and the light-chain binding domain involved in the assembly of the clathrin lattice.
  • 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 (By similarity).
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 CLTCL1: view

No data available for Gene Families for CLTCL1 Gene

Function for CLTCL1 Gene

Molecular function for CLTCL1 Gene

GENATLAS Biochemistry:
clathrin heavy chain-like sequence in the DiGeorge critical region (DGCR)
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 (By similarity).
genes like me logo Genes that share phenotypes with CLTCL1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CLTCL1 Gene

Localization for CLTCL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLTCL1 Gene

Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=Cytoplasmic face of coated pits and vesicles. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CLTCL1 Gene COMPARTMENTS Subcellular localization image for CLTCL1 gene
Compartment Confidence
cytoskeleton 5
endosome 5
extracellular 5
golgi apparatus 5
cytosol 2
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CLTCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 NOT early endosome IDA 20065094
GO:0005770 late endosome IDA 20065094
GO:0005802 trans-Golgi network IDA 19509056
GO:0005829 cytosol IMP 20065094
GO:0030135 coated vesicle IDA 19509056
genes like me logo Genes that share ontologies with CLTCL1: view

Pathways & Interactions for CLTCL1 Gene

genes like me logo Genes that share pathways with CLTCL1: view

SIGNOR curated interactions for CLTCL1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CLTCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IDA 19509056
genes like me logo Genes that share ontologies with CLTCL1: view

Drugs & Compounds for CLTCL1 Gene

(1) Drugs for CLTCL1 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 CLTCL1: view

Transcripts for CLTCL1 Gene

Unigene Clusters for CLTCL1 Gene

Clathrin, heavy chain-like 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CLTCL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a · 32b ^ 33 ^ 34a · 34b
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for CLTCL1 Gene

GeneLoc Exon Structure for
CLTCL1
ECgene alternative splicing isoforms for
CLTCL1

Expression for CLTCL1 Gene

mRNA expression in normal human tissues for CLTCL1 Gene

mRNA differential expression in normal tissues according to GTEx for CLTCL1 Gene

This gene is overexpressed in Muscle - Skeletal (x22.2).

Protein differential expression in normal tissues from HIPED for CLTCL1 Gene

This gene is overexpressed in Brain (44.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for CLTCL1 Gene



SOURCE GeneReport for Unigene cluster for CLTCL1 Gene Hs.368266

mRNA Expression by UniProt/SwissProt for CLTCL1 Gene

P53675-CLH2_HUMAN
Tissue specificity: Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues.
genes like me logo Genes that share expression patterns with CLTCL1: view

Protein tissue co-expression partners for CLTCL1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CLTCL1 Gene

Orthologs for CLTCL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLTCL1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia CLTCL1 35
  • 90.13 (n)
  • 92.66 (a)
CLTCL1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLTCL1 35
  • 99.67 (n)
  • 99.63 (a)
CLTCL1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLTCL1 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLTCL1 35
  • 79.13 (n)
  • 90.02 (a)
CLTCL1 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLTCL1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492311 35
  • 77.19 (n)
  • 88.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.619 35
zebrafish
(Danio rerio)
Actinopterygii CLTCL1 (1 of 2) 36
  • 66 (a)
OneToMany
CLTCL1 (2 of 2) 36
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Chc 37
  • 75 (a)
Chc 36
  • 75 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T20G5.1 37
  • 66 (a)
chc-1 36
  • 67 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 36
  • 48 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5152 35
corn
(Zea mays)
Liliopsida Zm.12119 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1583 36
  • 62 (a)
OneToMany
Species with no ortholog for CLTCL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for CLTCL1 Gene

ENSEMBL:
Gene Tree for CLTCL1 (if available)
TreeFam:
Gene Tree for CLTCL1 (if available)

Paralogs for CLTCL1 Gene

Paralogs for CLTCL1 Gene

(1) SIMAP similar genes for CLTCL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CLTCL1: view

Variants for CLTCL1 Gene

Sequence variations from dbSNP and Humsavar for CLTCL1 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs3747059 - 19,275,691(+) GGATC(A/C/G)GAGCC nc-transcript-variant, reference, missense
rs5746697 - 19,242,842(+) CCATC(C/T)TGAAC nc-transcript-variant, reference, missense
rs807459 - 19,235,829(+) AGCCA(C/T)ACTTT nc-transcript-variant, reference, missense
rs1060374 - 19,225,510(-) ACCAC(A/G)AGCAG nc-transcript-variant, reference, missense
rs35398725 - 19,219,982(-) GTTCA(A/G)AAGCG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CLTCL1 Gene

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv914268 CNV Gain 21882294
nsv834122 CNV Loss 17160897
nsv914269 CNV Loss 21882294
dgv4838n71 CNV Loss 21882294
esv1007063 CNV Deletion 20482838
esv2676900 CNV Deletion 23128226
nsv459398 CNV Loss 19166990
esv2532331 CNV Insertion 19546169
nsv834123 CNV Loss 17160897
nsv513584 CNV Insertion 21212237
esv273055 CNV Insertion 20981092
esv272049 CNV Insertion 20981092
esv2672843 CNV Deletion 23128226
nsv834124 CNV Loss 17160897
nsv914272 CNV Loss 21882294
esv2664681 CNV Deletion 23128226
nsv828933 CNV Loss 20364138
esv272289 CNV Insertion 20981092
nsv834125 CNV Loss 17160897

Variation tolerance for CLTCL1 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.78; 98.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CLTCL1 Gene

Human Gene Mutation Database (HGMD)
CLTCL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLTCL1 Gene

Disorders for CLTCL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CLTCL1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 22q11.2 microduplication syndrome
  • 22q11.2 microduplication syndrome
digeorge syndrome
  • digeorge sequence
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CLTCL1

Genetic Association Database (GAD)
CLTCL1
Human Genome Epidemiology (HuGE) Navigator
CLTCL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CLTCL1
genes like me logo Genes that share disorders with CLTCL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CLTCL1 Gene

Publications for CLTCL1 Gene

  1. Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL). (PMID: 8844170) Long K.R. … Buckler A.J. (Genomics 1996) 2 3 4 67
  2. Clathrin isoform CHC22, a component of neuromuscular and myotendinous junctions, binds sorting nexin 5 and has increased expression during myogenesis and muscle regeneration. (PMID: 15133132) Towler M.C. … Brodsky F.M. (Mol. Biol. Cell 2004) 2 3
  3. Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. (PMID: 8733128) Sirotkin H. … Kucherlapati R. (Hum. Mol. Genet. 1996) 3 23
  4. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3
  5. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. (PMID: 26068709) Nahorski M.S. … Woods C.G. (Brain 2015) 3

Products for CLTCL1 Gene

Sources for CLTCL1 Gene

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