Reviewed,
UniProtKB/Swiss-Prot P48643 (TCPE_HUMAN)
Last modified
November 25, 2008.
Version 84.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: T-complex protein 1 subunit epsilon Short name=TCP-1-epsilon Alternative name(s): CCT-epsilon | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 541 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Molecular chaperone; assist the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin. |
| Subunit structure | Heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Interacts with PACRG. |
| Subcellular location | |
| Involvement in disease | Defects in CCT5 are the cause of autosomal recessive sensory neuropathy with spastic paraplegia [MIM:256840]. The disease is characterized by spastic paraplegia and progressive distal sensory neuropathy leading to mutilating ulcerations of the upper and lower limbs. |
| Sequence similarities | Belongs to the TCP-1 chaperonin family. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Disease | Disease mutation |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Chaperone |
| PTM | Acetylation |
| Technical term | Direct protein sequencing |
Gene Ontology (GO) | |
| Biological process | protein folding Inferred from electronic annotation. Source: InterPro |
| Cellular component | nucleolus Inferred from direct assay. Source: HPA |
| Molecular function | ATP binding Inferred from electronic annotation. Source: InterPro unfolded protein bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Initiator methionine | 1 | 1 | Removed | ||||||
| Chain | 2 – 541 | 540 | T-complex protein 1 subunit epsilon | PRO_0000128346 | |||||
Amino acid modifications | |||||||||
| Modified residue | 2 | 1 | N-acetylalanine | ||||||
Natural variations | |||||||||
| Natural variant | 147 | 1 | H → R in autosomal recessive sensory neuropathy with spastic paraplegia. | VAR_030658 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Miyajima N., Tanaka A., Sazuka T., Seki N., Sato S., Tabata S., Ishikawa K., Kawarabayasi Y., Kotani H., Nomura N. DNA Res. 2:37-43(1995) [PubMed: 7788527] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Bone marrow. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lung and Uterus. |
| [3] | Bienvenut W.V., Vousden K.H., Lukashchuk N. Submitted (MAR-2008) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-24; 28-35; 50-59; 90-96; 133-170; 184-201; 203-214; 248-261; 264-275; 283-293; 324-340; 345-368; 382-388; 393-399; 401-410; 484-496; 514-525 AND 530-541, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, MASS SPECTROMETRY. Tissue: Lung carcinoma. |
| [4] | Lubec G., Afjehi-Sadat L. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 248-261; 324-340 AND 353-368, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell. |
| [5] | "A product of the human gene adjacent to parkin is a component of Lewy bodies and suppresses Pael receptor-induced cell death." Imai Y., Soda M., Murakami T., Shoji M., Abe K., Takahashi R. J. Biol. Chem. 278:51901-51910(2003) [PubMed: 14532270] [Abstract] Cited for: INTERACTION WITH PACRG. |
| [6] | "Mutation in the epsilon subunit of the cytosolic chaperonin-containing T-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia." Bouhouche A., Benomar A., Bouslam N., Chkili T., Yahyaoui M. J. Med. Genet. 43:441-443(2006) [PubMed: 16399879] [Abstract] Cited for: VARIANT AUTOSOMAL RECESSIVE SENSORY NEUROPATHY WITH SPASTIC PARAPLEGIA ARG-147. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| D43950 mRNA. Translation: BAA07894.2. Different initiation. BC006543 mRNA. Translation: AAH06543.1. BC035499 mRNA. Translation: AAH35499.1. | |
| RefSeq | NP_036205.1. |
| UniGene | Hs.1600 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1A6D based on UniProtKB P48425. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P48643. |
PTM databases | |
| PhosphoSite | P48643. |
2-D gel databases | |
| SWISS-2DPAGE | P48643. |
| OGP | P48643. |
| PHCI-2DPAGE | P48643. |
| REPRODUCTION-2DPAGE | IPI00010720. |
Proteomic databases | |
| PeptideAtlas | P48643. |
Genome annotation databases | |
| Ensembl | ENSG00000150753. Homo sapiens. [Contig view] |
| GeneID | 22948. |
| KEGG | hsa:22948. |
Organism-specific databases | |
| H-InvDB | HIX0004744. |
| HGNC | HGNC:1618. CCT5. |
| HPA | CAB006271. HPA002238. HPA005958. |
| MIM | 256840. phenotype. 610150. gene. |
| Orphanet | 2683. Neuropathy sensory - spastic paraplegia. |
| PharmGKB | PA26182. |
| HUGE | Search... |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | P48643. |
| HOVERGEN | P48643. |
Gene expression databases | |
| ArrayExpress | P48643. |
| CleanEx | HS_CCT5. |
| GermOnline | ENSG00000150753. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR012718. Chap_CCT_epsi. IPR002194. Chaperonin_TCP-1_CS. IPR001844. Chaprnin_Cpn60. IPR002423. Cpn60/TCP-1. [Graphical view] |
| PANTHER | PTHR11353:SF25. Chap_CCT_epsi. 1 hit. PTHR11353. Cpn60/TCP-1. 1 hit. |
| Pfam | PF00118. Cpn60_TCP1. 1 hit. [Graphical view] |
| PRINTS | PR00298. CHAPERONIN60. PR00304. TCOMPLEXTCP1. |
| TIGRFAMs | TIGR02343. chap_CCT_epsi. 1 hit. |
| PROSITE | PS00750. TCP1_1. 1 hit. PS00751. TCP1_2. 1 hit. PS00995. TCP1_3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| LinkHub | P48643. |
| NextBio | 43711. |
| SOURCE | Search... |
Entry information
| Entry name | TCPE_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P48643 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: 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


