Protein detail
TBC24
TBC1 domain family member 24
Entry name TBC24 | UniProt ID | EVMP confidence score 0.28 |
Supporting publications (n) 1 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins |
Annotation confidence score; open for threshold definitions.
Extremely high >= 0.70High >= 0.60Medium >= 0.40Low >= 0.30Basic Information
Protein Names
TBC1 domain family member 24
Protein Class (4)
Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins
Protein Function (5)
- Predicted intracellular proteins
- Human disease related genes:Nervous system diseases:Epilepsy
- Disease related genes
- Human disease related genes:Congenital malformations:Other congenital malformations
- Human disease related genes:Nervous system diseases:Ear disease
Ensembl
Entrez Gene Symbol
Gene Synonym (4)
DFNA65DFNB86KIAA1171TLDC6
Gene Description
TBC1 domain family member 24
Chromosome
16
Position
2475051-2509560
Supporting publications (n)
1
EVMP confidence score
0.28
Fluorescence & Localization
Tissue SpecificintestineCell SpecificAlveolar cells type 1Single-Nuclei Brain Specificependymal cellBlood Cell Specificplasmacytoid DCBlood Lineage Specificdendritic cells
Function & Pathway
Protein Function (5)
- Predicted intracellular proteins
- Human disease related genes:Nervous system diseases:Epilepsy
- Disease related genes
- Human disease related genes:Congenital malformations:Other congenital malformations
- Human disease related genes:Nervous system diseases:Ear disease
Cellular Component (6)
Molecular Function (2)
Biological Process (3)
Reactome (4)
Mediation Categories
Fusion and delivery mediation
Relations & Evidence11
Ligand-Receptor Signaling (6)
6 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | ComPPI | |||||
| intracellular | intracellular | GO_Intercell | |||||
| intracellular | intracellular | UniProt_location | |||||
| intracellular | intracellular | OmniPath | |||||
| plasma_membrane | plasma_membrane | UniProt_location | |||||
| plasma_membrane | plasma_membrane | OmniPath |
Protein Complex Composition (4)
4 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| CHMP1BCHMP4BCHMP4CMOCOSTBC1D24 | Q7LBR1Q96CF2Q96EN8Q9H444Q9ULP9 | 0:0:0:0:0 | hu.MAP | |||
| CHMP1BCHMP4CMOCOSTBC1D24 | Q7LBR1Q96CF2Q96EN8Q9ULP9 | 0:0:0:0 | hu.MAP | |||
| ATP6V0D2C1orf21TBC1D24TMEM185ATMEM185B | Q8N8Y2Q8NFB2Q9H246Q9H7F4Q9ULP9 | 0:0:0:0:0 | hu.MAP | |||
| C1orf21CSNK1G1TBC1D24TMEM185ATMEM185B | Q8NFB2Q9H246Q9H7F4Q9HCP0Q9ULP9 | 0:0:0:0:0 | hu.MAP |
Isolation & Detection Technology (1)
1 record.
| EV Isolation Method | Detection Method | Number of References | References |
|---|---|---|---|
| Differential UltracentrifugationSize Exclusion Chromatography | Mass spectrometry | 1 | 30646616 |
Sequence, Structure & Domains
Sequences
Length
559
Mass
62,919
Sequence
MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPDASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVALLLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYADWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTVSPEKLLEKAFAIRLFSRKEIQLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREMRDIWSWVPERFALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGGKLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNLPSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ULP9-1; Sequence=Displayed; Name=2; IsoId=Q9ULP9-2; Sequence=VSP_025701
Alternative Sequence
322..327; Missing (in isoform 2)
Domain & Motif Annotations
Domain (CC)
The Rab-GAP TBC domain is essential for phosphatidylinositol binding.
Domain (FT)
47..262; Rab-GAP TBC; 343..554; TLDc
Clinical Relevance
Disease Involvement (5)
DeafnessDisease variantEpilepsyIntellectual disabilityNon-syndromic deafness
Related Diseases (4)
Supporting Publications1
| PMID | Title | Related sentences |
|---|---|---|
| 27234505 | Plasma-derived Extracellular Vesicles Contain Predictive Biomarkers and Potential Therapeutic Targets for Myocardial Ischemic (MI) Injury. | No related sentences available |