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Aliases for CLTCL1 Gene

Aliases for CLTCL1 Gene

  • Clathrin, Heavy Chain-Like 1 2 3
  • CLTD 3 4 6
  • 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
  • Clathrin, Heavy Polypeptide D 3
  • Clathrin Heavy Chain 2 3
  • CHC22 3

External Ids for CLTCL1 Gene

Previous Symbols for CLTCL1 Gene

  • CLTCL

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 atrioventricular septal defect and digeorge syndrome. Among its related pathways are Endocytosis and Lysosome. GO annotations related to this gene include signal transducer activity 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

Genomic Location for CLTCL1 Gene

Start:
19,179,473 bp from pter
End:
19,291,723 bp from pter
Size:
112,251 bases
Orientation:
Minus strand

Genomic View for CLTCL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CLTCL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLTCL1 Gene

Regulatory Elements 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
  • Ubiquitination at Lys453, Lys507, Lys911, Lys1034, Lys1347, and Lys1449

Other Protein References for CLTCL1 Gene

No data available for DME Specific Peptides for CLTCL1 Gene

Domains for CLTCL1 Gene

UniProtKB/Swiss-Prot:

CLH2_HUMAN
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:
    • P53675
  • 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).:
    • P53675
Family:
  • Belongs to the clathrin heavy chain family.:
    • P53675
Similarity:
  • Contains 7 CHCR (clathrin heavy-chain) repeats.:
    • P53675
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:0005488 binding --
GO:0005515 protein binding IPI 19478182
genes like me logo Genes that share ontologies with CLTCL1: view

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

Gene Ontology (GO) - Cellular Components for CLTCL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network IDA 19509056
GO:0005819 spindle IDA 19509056
GO:0005905 coated pit IDA 19509056
GO:0016020 membrane IDA 19946888
GO:0030130 clathrin coat of trans-Golgi network vesicle IEA --
genes like me logo Genes that share ontologies with CLTCL1: view

Pathways for CLTCL1 Gene

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

Interacting Proteins for CLTCL1 Gene

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 mitotic nuclear division IDA 19509056
GO:0007165 signal transduction TAS 8844170
GO:0009653 anatomical structure morphogenesis TAS 8733128
genes like me logo Genes that share ontologies with CLTCL1: view

Compounds for CLTCL1 Gene

(1) HMDB Compounds for CLTCL1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
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 (22.2).

Integrated Proteomics: protein expression 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 expressions with CLTCL1: view

Orthologs for CLTCL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLTCL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CLTCL1 36
  • 99.67 (n)
  • 99.63 (a)
CLTCL1 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CLTCL1 36
  • 90.13 (n)
  • 92.66 (a)
CLTCL1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CLTCL1 37
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves CLTCL1 36
  • 79.13 (n)
  • 90.02 (a)
CLTCL1 37
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CLTCL1 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492311 36
  • 77.19 (n)
  • 88.31 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.619 36
zebrafish
(Danio rerio)
Actinopterygii CLTCL1 (1 of 2) 37
  • 66 (a)
OneToMany
CLTCL1 (2 of 2) 37
  • 82 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Chc 37
  • 75 (a)
OneToMany
Chc 38
  • 75 (a)
worm
(Caenorhabditis elegans)
Secernentea chc-1 37
  • 67 (a)
OneToMany
T20G5.1 38
  • 66 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 37
  • 48 (a)
OneToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.5152 36
corn
(Zea mays)
Liliopsida Zm.12119 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1583 37
  • 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

Selected 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 MAF
rs361618 -- 19,276,024(-) TAATC(-/T)CCCTT intron-variant
rs361623 -- 19,220,770(+) AGATC(-/TGGATTTTTAGATC)AAATG intron-variant
rs361639 -- 19,280,501(-) caagg(C/T)tcatt intron-variant
rs361697 -- 19,281,163(+) ggtgg(C/T)gggtg intron-variant
rs361747 -- 19,265,994(-) cagaa(-/G)tctga intron-variant

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

Relevant External Links for CLTCL1 Gene

HapMap Linkage Disequilibrium report
CLTCL1
Human Gene Mutation Database (HGMD)
CLTCL1

Disorders for CLTCL1 Gene

Relevant External Links for CLTCL1

Genetic Association Database (GAD)
CLTCL1
Human Genome Epidemiology (HuGE) Navigator
CLTCL1
genes like me logo Genes that share disorders with CLTCL1: view

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

Publications for CLTCL1 Gene

  1. 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 23
  2. 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
  3. Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. (PMID: 8733129) Kedra D. … Dumanski J.P. (Hum. Mol. Genet. 1996) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. 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

Products for CLTCL1 Gene

Sources for CLTCL1 Gene

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