Seroatlas · Human Serome Atlas

TBC1D24

TBC1 domain family member 24

Also known as: DFNA65, DFNB86, KIAA1171, TBC24_HUMAN, TLDC6

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9ULP9
Gene: TBC1D24
Ensembl: ENSG00000162065
Chromosome: 16
Canonical length: 559 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Plasma membrane,Cell Junctions

OverviewNCBI Gene

This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

559 residues, UniProt reviewed canonical sequence.

>Q9ULP9|TBC1D24
     1  MDSPGYNCFV DKDKMDAAIQ DLGPKELSCT ELQELKQLAR QGYWAQSHAL RGKVYQRLIR
    61  DIPCRTVTPD ASVYSDIVGK IVGKHSSSCL PLPEFVDNTQ VPSYCLNARG EGAVRKILLC
   121  LANQFPDISF CPALPAVVAL LLHYSIDEAE CFEKACRILA CNDPGRRLID QSFLAFESSC
   181  MTFGDLVNKY CQAAHKLMVA VSEDVLQVYA DWQRWLFGEL PLCYFARVFD VFLVEGYKVL
   241  YRVALAILKF FHKVRAGQPL ESDSVKQDIR TFVRDIAKTV SPEKLLEKAF AIRLFSRKEI
   301  QLLQMANEKA LKQKGITVKQ KSVSLSKRQF VHLAVHAENF RSEIVSVREM RDIWSWVPER
   361  FALCQPLLLF SSLQHGYSLA RFYFQCEGHE PTLLLIKTTQ KEVCGAYLST DWSERNKFGG
   421  KLGFFGTGEC FVFRLQPEVQ RYEWVVIKHP ELTKPPPLMA AEPTAPLSHS ASSDPADRLS
   481  PFLAARHFNL PSKTESMFMA GGSDCLIVGG GGGQALYIDG DLNRGRTSHC DTFNNQPLCS
   541  ENFLIAAVEA WGFQDPDTQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TBC1D24 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.25
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

salivary gland: 16 nTPM
cerebellum: 10 nTPM
cerebral cortex: 10 nTPM
pancreas: 9.9 nTPM
kidney: 4.5 nTPM
retina: 3.9 nTPM

Single-cell type

brain excitatory neurons: 39 nCPM
brain inhibitory neurons: 34 nCPM
other brain neurons: 34 nCPM
oligodendrocyte progenitor cells: 33 nCPM
astrocytes: 17 nCPM
distal convoluted tubule cells: 16 nCPM

Immune cell

gdT-cell: 0.3 nTPM
myeloid DC: 0.2 nTPM
total PBMC: 0.2 nTPM
classical monocyte: 0.1 nTPM
intermediate monocyte: 0.1 nTPM
MAIT T-cell: 0.1 nTPM

Brain region

cerebral cortex: 32 nTPM
basal ganglia: 27 nTPM
hippocampal formation: 22 nTPM
hypothalamus: 20 nTPM
amygdala: 19 nTPM
cerebellum: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TBC1D24.

Disease | AllUniProt

Conditions TBC1D24 is implicated in, by any mechanism.

Familial infantile myoclonic epilepsy (FIME) MIM:605021
Developmental and epileptic encephalopathy 16 (DEE16) MIM:615338
Deafness, autosomal dominant, 65 (DFNA65) MIM:616044
Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (DOORS) MIM:220500
Deafness, autosomal recessive, 86 (DFNB86) MIM:614617
Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) MIM:608105

Disease | GeneticClinVar

109 pathogenic / likely-pathogenic of 1,057 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant nonsyndromic hearing loss 65
Developmental and epileptic encephalopathy, 1
Developmental and epileptic encephalopathy, 16
DOORS syndrome
Autosomal recessive nonsyndromic hearing loss 86

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.12
gnomAD pLI: 0
gnomAD missense Z: 0.76
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

GTPase activator activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TBC1D24 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ARF6

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TBC1D24 as an antibody target. Whether an autoantibody or antibody against TBC1D24 could matter depends on whether native TBC1D24 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TBC1D24 is annotated at the cell surface, where native TBC1D24 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TBC1D24 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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