Protein detail

TBC24

TBC1 domain family member 24

Entry name
TBC24
UniProt ID
EVMP score
0.50
Frequency
1
Transmembrane count
Protein classification
Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
TBC1 domain family member 24
Protein Class
Disease related genesHuman disease related genesPredicted intracellular proteinsPredicted membrane proteins
Protein Function
  • 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
Entrez Gene Symbol
Gene Synonym
DFNA65DFNB86KIAA1171TLDC6
Gene Description
TBC1 domain family member 24
Chromosome
16
Position
2475051-2509560
Frequency
1
EVMP Score
0.50
Fluorescence & Localization
Tissue SpecificintestineCell SpecificAlveolar cells type 1Single-Nuclei Brain Specificependymal cellBlood Cell Specificplasmacytoid DCBlood Lineage Specificdendritic cells
Function & Pathway
Protein Function
  • 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
Mediation Categories
Fusion and delivery mediation
Relations & Evidence

Enzyme-Mediated Modification

0 records.

Ligand-Receptor Signaling

6 records.

CategoryParentDatabaseTransmitterReceiverSecretedPlasma Membrane (Transmembrane)Plasma Membrane (Peripheral)
intracellularintracellularComPPINoNoNoNoNo
intracellularintracellularGO_IntercellNoNoNoNoNo
intracellularintracellularUniProt_locationNoNoNoNoNo
intracellularintracellularOmniPathNoNoNoNoNo
plasma_membraneplasma_membraneUniProt_locationNoNoNoNoNo
plasma_membraneplasma_membraneOmniPathNoNoNoNoNo

Regulatory Interaction Network

0 records.

Protein Complex Composition

4 records.

Isolation & Detection Technology

1 record.

EV Isolation MethodDetection MethodNumber of ReferencesReferences
Differential UltracentrifugationSize Exclusion ChromatographyMass spectrometry130646616
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)

3D Structural Models

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
DeafnessDisease variantEpilepsyIntellectual disabilityNon-syndromic deafness