InnateDB Protein
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IDBP-107550.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TBCE
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Protein Name
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tubulin folding cofactor E
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Synonyms
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HRD; KCS; KCS1; pac2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000355560
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InnateDB Gene
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IDBG-107548 (TBCE)
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Protein Structure
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Function |
Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation. {ECO:0000269PubMed:11847227}.
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Subcellular Localization |
Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
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Disease Associations |
Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]: Autosomal recessive disorder reported almost exclusively in Middle Eastern populations. {ECO:0000269PubMed:12389028}. Note=The disease is caused by mutations affecting the gene represented in this entry.Kenny-Caffey syndrome 1 (KCS1) [MIM:244460]: An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269PubMed:12389028}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
8
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000938
CAP Gly-rich domain
IPR029071
Ubiquitin-related domain
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PFAM |
PF01302
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PRINTS |
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PIRSF |
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SMART |
SM01052
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TIGRFAMs |
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Modification |
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SwissProt |
Q15813
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PhosphoSite |
PhosphoSite-Q15813
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
6905
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UniGene |
Hs.498143
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RefSeq |
NP_003184
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HUGO |
HGNC:11582
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OMIM |
604934
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CCDS |
CCDS1605
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HPRD |
05381
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IMGT |
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EMBL |
AK292287
AK296185
AL357556
AL672237
BC008654
BT007086
FO393422
U61232
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GenPept |
AAB17538
AAH08654
AAP35749
BAF84976
BAH12277
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