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Aliases for CLTCL1 Gene

Aliases for CLTCL1 Gene

  • 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
  • Clathrin, Heavy Chain-Like 1 2
  • Clathrin Heavy Chain 2 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 Congenital Insensitivity To Pain With Severe Intellectual Disability and Chromosome 22Q11.2 Microduplication Syndrome. Among its related pathways are EPH-Ephrin signaling and Vesicle-mediated transport. 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 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
- Elite enhancer/Elite enhancer-gene association

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

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).

Gene Ontology (GO) - Molecular Function for CLTCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity TAS 8844170
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 19478182
genes like me logo Genes that share ontologies with CLTCL1: view
genes like me logo Genes that share phenotypes with CLTCL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005819 spindle IDA 19509056
GO:0005829 cytosol IEA --
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:0006886 intracellular protein transport IEA --
GO:0006898 receptor-mediated endocytosis IDA 19509056
GO:0007067 NOT mitotic nuclear division IDA 20065094
GO:0007165 signal transduction IEA --
GO:0009653 anatomical structure morphogenesis TAS 8733128
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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, MaxQB, and MOPED for CLTCL1 Gene



Protein tissue co-expression partners for CLTCL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CLTCL1 Gene:

CLTCL1

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

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 34
  • 90.13 (n)
  • 92.66 (a)
CLTCL1 35
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CLTCL1 34
  • 99.67 (n)
  • 99.63 (a)
CLTCL1 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLTCL1 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLTCL1 34
  • 79.13 (n)
  • 90.02 (a)
CLTCL1 35
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLTCL1 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492311 34
  • 77.19 (n)
  • 88.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.619 34
zebrafish
(Danio rerio)
Actinopterygii CLTCL1 (1 of 2) 35
  • 66 (a)
OneToMany
CLTCL1 (2 of 2) 35
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Chc 36
  • 75 (a)
Chc 35
  • 75 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T20G5.1 36
  • 66 (a)
chc-1 35
  • 67 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 35
  • 48 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5152 34
corn
(Zea mays)
Liliopsida Zm.12119 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1583 35
  • 62 (a)
OneToMany
Species where no ortholog for CLTCL1 was found in the sources mined by GeneCards:
  • 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
esv1007063 CNV deletion 20482838
esv2532331 CNV insertion 19546169
esv2664681 CNV deletion 23128226
esv2672843 CNV deletion 23128226
esv2676900 CNV deletion 23128226
esv3307775 CNV mobile element insertion 20981092
esv3308015 CNV mobile element insertion 20981092
esv3308782 CNV mobile element insertion 20981092
esv3387591 CNV insertion 20981092
esv3575418 CNV gain 25503493
esv3647265 CNV loss 21293372
esv3647268 CNV loss 21293372
esv3647269 CNV loss 21293372
nsv1116942 CNV deletion 24896259
nsv1125751 CNV tandem duplication 24896259
nsv1143025 CNV tandem duplication 24896259
nsv459398 CNV loss 19166990
nsv513584 CNV insertion 21212237
nsv588213 CNV gain 21841781
nsv588216 CNV gain 21841781
nsv588217 CNV loss 21841781
nsv828933 CNV loss 20364138
nsv834122 CNV loss 17160897
nsv834123 CNV loss 17160897
nsv834124 CNV loss 17160897
nsv834125 CNV loss 17160897
nsv979633 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: Orphanet and DISEASES

Disorder Aliases PubMed IDs
congenital insensitivity to pain with severe intellectual disability
  • congenital absence of pain with severe intellectual disability
chromosome 22q11.2 microduplication syndrome
  • chromosome 22q11.2 duplication syndrome
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 65
  2. 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 4 22 65
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  4. 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 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for CLTCL1 Gene

Sources for CLTCL1 Gene

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