P53675 (CLH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 120.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Clathrin heavy chain 2 Alternative name(s): Clathrin heavy chain on chromosome 22 Short name=CLH-22 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1640 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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 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. |
| 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. 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. |
| Sequence similarities | Belongs to the clathrin heavy chain family. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P53675-1) Also known as: Long; Brain; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P53675-2) Also known as: Short; Muscle; The sequence of this isoform differs from the canonical sequence as follows: 1479-1535: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1640 | 1640 | Clathrin heavy chain 2 | PRO_0000205786 | |||||
Regions | |||||||||
| Region | 1 – 479 | 479 | Globular terminal domain | ||||||
| Region | 24 – 67 | 44 | WD40-like repeat 1 | ||||||
| Region | 68 – 107 | 40 | WD40-like repeat 2 | ||||||
| Region | 108 – 149 | 42 | WD40-like repeat 3 | ||||||
| Region | 150 – 195 | 46 | WD40-like repeat 4 | ||||||
| Region | 196 – 257 | 62 | WD40-like repeat 5 | ||||||
| Region | 258 – 301 | 44 | WD40-like repeat 6 | ||||||
| Region | 302 – 330 | 29 | WD40-like repeat 7 | ||||||
| Region | 449 – 465 | 17 | Binding site for the uncoating ATPase, involved in lattice disassembly Potential | ||||||
| Region | 480 – 523 | 44 | Flexible linker | ||||||
| Region | 524 – 1640 | 1117 | Heavy chain arm | ||||||
| Region | 524 – 634 | 111 | Distal segment | ||||||
| Region | 639 – 1640 | 1002 | Proximal segment | ||||||
| Region | 1213 – 1522 | 310 | Involved in binding clathrin light chain By similarity | ||||||
| Region | 1551 – 1640 | 90 | Trimerization By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1479 – 1535 | 57 | Missing in isoform 2. | VSP_001100 | |||||
| Natural variant | 61 | 1 | P → L. Corresponds to variant rs3747059 [ dbSNP | Ensembl ]. | VAR_055653 | |||||
| Natural variant | 205 | 1 | K → R. Corresponds to variant rs5746697 [ dbSNP | Ensembl ]. | VAR_055654 | |||||
| Natural variant | 279 | 1 | Y → C. Corresponds to variant rs807459 [ dbSNP | Ensembl ]. | VAR_055655 | |||||
| Natural variant | 691 | 1 | E → K. Ref.3 Corresponds to variant rs1060374 [ dbSNP | Ensembl ]. | VAR_055656 | |||||
| Natural variant | 941 | 1 | K → R. Corresponds to variant rs35398725 [ dbSNP | Ensembl ]. | VAR_055657 | |||||
| Natural variant | 945 | 1 | R → H. Corresponds to variant rs36077768 [ dbSNP | Ensembl ]. | VAR_055658 | |||||
| Natural variant | 1046 | 1 | R → C. Corresponds to variant rs712952 [ dbSNP | Ensembl ]. | VAR_055659 | |||||
| Natural variant | 1195 | 1 | N → S. Corresponds to variant rs807547 [ dbSNP | Ensembl ]. | VAR_059214 | |||||
| Natural variant | 1316 | 1 | M → V. Corresponds to variant rs1061325 [ dbSNP | Ensembl ]. | VAR_059215 | |||||
| Natural variant | 1394 | 1 | I → T. Corresponds to variant rs1633399 [ dbSNP | Ensembl ]. | VAR_059216 | |||||
| Natural variant | 1592 | 1 | V → M. Corresponds to variant rs2073738 [ dbSNP | Ensembl ]. | VAR_059217 | |||||
| Natural variant | 1620 | 1 | R → H. Corresponds to variant rs5748024 [ dbSNP | Ensembl ]. | VAR_059218 | |||||
Experimental info | |||||||||
| Sequence conflict | 193 | 1 | P → H in AAC50494. Ref.1 | ||||||
| Sequence conflict | 215 | 1 | L → H in AAC50494. Ref.1 | ||||||
| Sequence conflict | 320 | 1 | K → T in CAA64752. Ref.2 | ||||||
| Sequence conflict | 530 | 1 | L → Q in AAC50494. Ref.1 | ||||||
| Sequence conflict | 1474 | 1 | E → K in AAB40908. Ref.3 | ||||||
| Sequence conflict | 1474 | 1 | E → K in AAB40909. Ref.3 | ||||||
| Sequence conflict | 1620 – 1640 | 21 | RKQEE…FDGHE → PPSKRSM in AAB40908. Ref.3 | ||||||
| Sequence conflict | 1620 – 1640 | 21 | RKQEE…FDGHE → PPSKRSM in AAB40909. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome." Sirotkin H., Morrow B., Dasgupta R., Goldberg R., Patangali S.R., Shi G., Cannizzaro L., Shprintzen R., Weissman S., Kucherlapati R. Hum. Mol. Genet. 5:617-624(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Fetal brain. |
| [2] | "Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11." Kedra D., Peyrard M., Fransson I., Collins J.E., Dunham I., Roe B.A., Dumanski J.P. Hum. Mol. Genet. 5:625-631(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 1451-1640 (ISOFORM 2). Tissue: Fetal brain and Skeletal muscle. |
| [3] | "Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL)." Long K.R., Trofatter J.A., Ramesh V., McCormick M.K., Buckler A.J. Genomics 35:466-472(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-691. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis. |
| [5] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U41763 mRNA. Translation: AAC50494.1. X95486 mRNA. Translation: CAA64752.1. X95487 mRNA. Translation: CAA64753.1. U60802 mRNA. Translation: AAB40908.1. U60803 mRNA. Translation: AAB40909.1. AK302506 mRNA. Translation: BAH13731.1. CH471176 Genomic DNA. Translation: EAX03047.1. |
| IPI | IPI00022881. IPI00300446. |
| PIR | G02757. T09522. |
| RefSeq | NP_001826.3. NM_001835.3. NP_009029.3. NM_007098.3. |
| UniGene | Hs.368266. |
3D structure databases | |
| ProteinModelPortal | P53675. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P53675. 8 interactions. |
| MINT | MINT-208273. |
| STRING | 9606.ENSP00000263200. |
PTM databases | |
| PhosphoSite | P53675. |
Polymorphism databases | |
| DMDM | 2506298. |
Proteomic databases | |
| PaxDb | P53675. |
| PRIDE | P53675. |
Protocols and materials databases | |
| DNASU | 8218. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000263200; ENSP00000445677; ENSG00000070371. ENST00000353891; ENSP00000439662; ENSG00000070371. ENST00000427926; ENSP00000441158; ENSG00000070371. |
| GeneID | 8218. |
| KEGG | hsa:8218. |
| UCSC | uc011agw.1. human. uc021wld.1. human. |
Organism-specific databases | |
| CTD | 8218. |
| GeneCards | GC22M019171. |
| H-InvDB | HIX0016234. |
| HGNC | HGNC:2093. CLTCL1. |
| HPA | HPA041110. |
| MIM | 601273. gene. |
| neXtProt | NX_P53675. |
| PharmGKB | PA26619. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG314149. |
| HOGENOM | HOG000188877. |
| HOVERGEN | HBG005344. |
| InParanoid | P53675. |
| KO | K04646. |
| OMA | EPQPIVF. |
| OrthoDB | EOG4TXBR0. |
| PhylomeDB | P53675. |
Enzyme and pathway databases | |
| Reactome | REACT_11123. Membrane Trafficking. |
Gene expression databases | |
| ArrayExpress | P53675. |
| Bgee | P53675. |
| CleanEx | HS_CLTCL1. |
| Genevestigator | P53675. |
| GermOnline | ENSG00000070371. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.40.10. 3 hits. 2.130.10.110. 1 hit. |
| InterPro | IPR016024. ARM-type_fold. IPR000547. Clathrin_H-chain/VPS_repeat. IPR016025. Clathrin_H-chain_link/propller. IPR015348. Clathrin_H-chain_linker_core. IPR001473. Clathrin_H-chain_propeller_N. IPR022365. Clathrin_H-chain_propeller_rpt. IPR016341. Clathrin_heavy_chain. IPR011990. TPR-like_helical. [Graphical view] |
| Pfam | PF00637. Clathrin. 7 hits. PF09268. Clathrin-link. 1 hit. PF01394. Clathrin_propel. 2 hits. [Graphical view] |
| PIRSF | PIRSF002290. Clathrin_H_chain. 1 hit. |
| SMART | SM00299. CLH. 7 hits. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 6 hits. SSF50989. Clathrin_H-chain_propeller_N. 1 hit. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CLTCL1. human. |
| GenomeRNAi | 8218. |
| NextBio | 30943. |
| SOURCE | Search... |
Entry information
| Entry name | CLH2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P53675 Secondary accession number(s): B7Z7U5 Q15809 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 22 Human chromosome 22: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
