TBC1D24 | ENSG00000162065 | NCBI 57465

Details for: TBC1D24

Gene ID: 57465

Symbol: TBC1D24

Ensembl ID: ENSG00000162065

Description: TBC1 domain family member 24

Associated with

Membrane trafficking
(R-HSA-199991)
Rab regulation of trafficking
(R-HSA-9007101)
Tbc/rabgaps
(R-HSA-8854214)
Vesicle-mediated transport
(R-HSA-5653656)
Axon development
(GO:0061564)
Cell junction
(GO:0030054)
Cellular response to oxidative stress
(GO:0034599)
Cytoplasm
(GO:0005737)
Cytoplasmic vesicle membrane
(GO:0030659)
Dendrite development
(GO:0016358)
Gtpase activator activity
(GO:0005096)
Negative regulation of cellular response to oxidative stress
(GO:1900408)
Negative regulation of peptidyl-cysteine s-nitrosylation
(GO:1902083)
Neuromuscular junction
(GO:0031594)
Neuron projection development
(GO:0031175)
Plasma membrane
(GO:0005886)
Positive regulation of dendrite morphogenesis
(GO:0050775)
Positive regulation of excitatory postsynaptic potential
(GO:2000463)
Positive regulation of neuron migration
(GO:2001224)
Protein binding
(GO:0005515)
Regulation of cilium assembly
(GO:1902017)
Synaptic vesicle endocytosis
(GO:0048488)
Terminal bouton
(GO:0043195)

Other Information

Proteins

TBC1 domain family member 24

Genular Protein ID: 2076992829

Symbol: TBC24_HUMAN

Name: TBC1 domain family member 24

UniProtKB Accession Codes:

Q9ULP9 A0JNW3 B9A6M6 Q2KJ08

Database IDs:

Citations:

PubMed ID: 10574461

Title: Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.

PubMed ID: 10574461

DOI: 10.1093/dnares/6.5.329

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 19077034

Title: Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.

PubMed ID: 19077034

DOI: 10.1111/j.1365-2443.2008.01251.x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20727515

Title: TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

PubMed ID: 20727515

DOI: 10.1016/j.ajhg.2010.07.020

PubMed ID: 20797691

Title: A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

PubMed ID: 20797691

DOI: 10.1016/j.ajhg.2010.08.001

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 23526554

Title: Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

PubMed ID: 23526554

DOI: 10.1002/humu.22318

PubMed ID: 24387994

Title: Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

PubMed ID: 24387994

DOI: 10.1016/j.ajhg.2013.12.004

PubMed ID: 24729547

Title: A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.

PubMed ID: 24729547

DOI: 10.1002/humu.22558

PubMed ID: 24729539

Title: TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

PubMed ID: 24729539

DOI: 10.1002/humu.22557

PubMed ID: 24291220

Title: The genetic basis of DOORS syndrome: an exome-sequencing study.

PubMed ID: 24291220

DOI: 10.1016/s1474-4422(13)70265-5

PubMed ID: 27541164

Title: Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

PubMed ID: 27541164

DOI: 10.1002/ajmg.a.37933

PubMed ID: 31257402

Title: TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.

PubMed ID: 31257402

DOI: 10.1093/brain/awz175

Sequence Information:

Length: 559
Mass: 62919
Checksum: 0F4EA43297ACC7F9
Sequence:

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

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: TBC1D24

Associated with

Other Information

Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. PubMed ID: 10574461

Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. PubMed ID: 12168954

Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. PubMed ID: 19077034

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. PubMed ID: 20727515

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. PubMed ID: 20797691

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. PubMed ID: 23526554

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. PubMed ID: 24387994

A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. PubMed ID: 24729547

TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. PubMed ID: 24729539

The genetic basis of DOORS syndrome: an exome-sequencing study. PubMed ID: 24291220

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. PubMed ID: 27541164

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. PubMed ID: 31257402