Description: Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. RefSeq Summary (NM_007098): 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]. Transcript (Including UTRs) Position: hg19 chr22:19,167,712-19,279,239 Size: 111,528 Total Exon Count: 32 Strand: - Coding Region Position: hg19 chr22:19,167,732-19,279,164 Size: 111,433 Coding Exon Count: 32
ID:CLH2_HUMAN DESCRIPTION: RecName: Full=Clathrin heavy chain 2; AltName: Full=Clathrin heavy chain on chromosome 22; Short=CLH-22; 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). SUBUNIT: 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). SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side (By similarity). Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side (By similarity). Note=Cytoplasmic face of coated pits and vesicles (By similarity). TISSUE SPECIFICITY: Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues. 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. SIMILARITY: Belongs to the clathrin heavy chain family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CLTCL1ID361.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P53675
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC166681 - Synthetic construct Homo sapiens clone IMAGE:100066407, MGC:195544 clathrin, heavy chain-like 1 (CLTCL1) mRNA, encodes complete protein. U41763 - Human muscle specific clathrin heavy chain (CLTD) mRNA, complete cds. U60802 - Human clathrin heavy chain 2 (CLTCL) mRNA, longer alternatively spliced transcript, complete cds. U60803 - Human clathrin heavy chain 2 (CLTCL) mRNA, complete cds. X95486 - H.sapiens mRNA for clathrin heavy chain (alternatively spliced). AK302506 - Homo sapiens cDNA FLJ60971 complete cds, highly similar to Clathrin heavy chain 2 (CLH-22). BC143977 - Homo sapiens cDNA clone IMAGE:9052495. BC143979 - Homo sapiens cDNA clone IMAGE:9052497. AK125929 - Homo sapiens cDNA FLJ43941 fis, clone TESTI4014265, moderately similar to Clathrin heavy chain 2. X95487 - H.sapiens mRNA for clathrin heavy chain. AK294147 - Homo sapiens cDNA FLJ58099 complete cds, highly similar to Homo sapiens clathrin, heavy polypeptide-like 1 (CLTCL1), transcript variant 1, mRNA. L77568 - Homo sapiens clathrin heavy chain-like (CLTCL) mRNA, 3' end. AK295264 - Homo sapiens cDNA FLJ56961 complete cds, highly similar to Clathrin heavy chain 2 (CLH-22). JD268638 - Sequence 249662 from Patent EP1572962. JD201895 - Sequence 182919 from Patent EP1572962. JD164331 - Sequence 145355 from Patent EP1572962. JD456786 - Sequence 437810 from Patent EP1572962. AY927418 - Homo sapiens mRNA sequence. JD021760 - Sequence 2784 from Patent EP1572962. JD033951 - Sequence 14975 from Patent EP1572962. JD023441 - Sequence 4465 from Patent EP1572962. JD031126 - Sequence 12150 from Patent EP1572962. JD035432 - Sequence 16456 from Patent EP1572962. BC113030 - Homo sapiens clathrin, heavy chain-like 1, mRNA (cDNA clone IMAGE:40021667), partial cds. JD458467 - Sequence 439491 from Patent EP1572962. JD200348 - Sequence 181372 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04142 - Lysosome hsa04144 - Endocytosis hsa05016 - Huntington's disease hsa05100 - Bacterial invasion of epithelial cells
Reactome (by CSHL, EBI, and GO)
Protein P53675 (Reactome details) participates in the following event(s):
R-HSA-8856808 Recruitment of AP-2 complex and clathrin R-HSA-8871196 Initial binding of AP-2 and clathrin to PI(4,5)P2 R-HSA-196026 Dab2 is recruited to the junctional plaques R-HSA-8866283 ARBB recruits GPCRs into clathrin-coated pits R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit R-HSA-8856813 AAK1 phosphorylates AP-2 mu subunit at T156 R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P R-HSA-8862280 FCHo proteins bind nascent clathrin-coated pit R-HSA-196017 Dynamin is recruited to the gap junction plaque R-HSA-8868071 Clathrin recruits PIK3C2A R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit R-HSA-190519 Internalization of gap junction plaques R-HSA-8868236 BAR domain proteins recruit dynamin R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2 R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit R-HSA-3928665 EPH-ephrin mediated repulsion of cells R-HSA-8856828 Clathrin-mediated endocytosis R-HSA-196025 Formation of annular gap junctions R-HSA-2682334 EPH-Ephrin signaling R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis R-HSA-199991 Membrane Trafficking R-HSA-190873 Gap junction degradation R-HSA-422475 Axon guidance R-HSA-5653656 Vesicle-mediated transport R-HSA-190828 Gap junction trafficking R-HSA-1266738 Developmental Biology R-HSA-157858 Gap junction trafficking and regulation
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
