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Protein

TBC1 domain family member 24

Gene

TBC1D24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function.2 Publications

GO - Molecular functioni

GO - Biological processi

  • neuron projection development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 24
Gene namesi
Name:TBC1D24
Synonyms:KIAA1171
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:29203. TBC1D24.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • neuromuscular junction Source: ParkinsonsUK-UCL
  • terminal bouton Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Familial infantile myoclonic epilepsy (FIME)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures.
See also OMIM:605021
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti147 – 1471D → H in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons. 1 Publication
Corresponds to variant rs267607103 [ dbSNP | Ensembl ].
VAR_064365
Natural varianti251 – 2511F → L in FIME; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 Publication
Corresponds to variant rs267607104 [ dbSNP | Ensembl ].
VAR_064366
Natural varianti515 – 5151A → V in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 Publication
Corresponds to variant rs267607105 [ dbSNP | Ensembl ].
VAR_064367
Epileptic encephalopathy, early infantile, 16 (EIEE16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood.
See also OMIM:615338
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti229 – 2291F → S in EIEE16; loss of function mutation; impairs the interaction with ARF6; overexpression of the mutant protein in primary cortical neurons abolishes the ability to increase neurite length and arborization. 1 Publication
Corresponds to variant rs397514713 [ dbSNP | Ensembl ].
VAR_070102
Deafness, autosomal dominant, 65 (DFNA65)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA65 is characterized by post-lingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal.
See also OMIM:616044
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti178 – 1781S → L in DFNA65. 2 Publications
Corresponds to variant rs483352866 [ dbSNP | Ensembl ].
VAR_072107
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy.
See also OMIM:220500
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201Q → E in DOORS. 1 Publication
Corresponds to variant rs201257588 [ dbSNP | Ensembl ].
VAR_070912
Natural varianti40 – 401R → C in DOORS. 1 Publication
Corresponds to variant rs398122966 [ dbSNP | Ensembl ].
VAR_070913
Natural varianti110 – 1101G → S in DOORS. 1 Publication
Corresponds to variant rs747821285 [ dbSNP | Ensembl ].
VAR_070914
Natural varianti242 – 2421R → C in DOORS. 1 Publication
Corresponds to variant rs398122965 [ dbSNP | Ensembl ].
VAR_070915
Natural varianti333 – 3331L → F in DOORS. 1 Publication
VAR_070916
Deafness, autosomal recessive, 86 (DFNB86)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies.
See also OMIM:614617
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti70 – 701D → Y in DFNB86. 1 Publication
Corresponds to variant rs587777147 [ dbSNP | Ensembl ].
VAR_070994
Natural varianti293 – 2931R → P in DFNB86. 1 Publication
Corresponds to variant rs199700840 [ dbSNP | Ensembl ].
VAR_070995

Keywords - Diseasei

Deafness, Disease mutation, Epilepsy, Mental retardation, Non-syndromic deafness

Organism-specific databases

MalaCardsiTBC1D24.
MIMi220500. phenotype.
605021. phenotype.
614617. phenotype.
615338. phenotype.
616044. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
79500. DOORS syndrome.
352582. Familial infantile myoclonic epilepsy.
352587. Focal epilepsy - intellectual disability - cerebro-cerebellar malformation.
293181. Malignant migrating partial seizures of infancy.
352596. Progressive myoclonic epilepsy with dystonia.
PharmGKBiPA144596267.

Polymorphism and mutation databases

BioMutaiTBC1D24.
DMDMi148887040.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 559559TBC1 domain family member 24PRO_0000288504Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei473 – 4731PhosphoserineCombined sources
Modified residuei480 – 4801PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULP9.
MaxQBiQ9ULP9.
PaxDbiQ9ULP9.
PeptideAtlasiQ9ULP9.
PRIDEiQ9ULP9.

PTM databases

iPTMnetiQ9ULP9.
PhosphoSiteiQ9ULP9.

Expressioni

Tissue specificityi

Highest expression in brain.1 Publication

Gene expression databases

BgeeiENSG00000162065.
CleanExiHS_TBC1D24.
ExpressionAtlasiQ9ULP9. baseline and differential.
GenevisibleiQ9ULP9. HS.

Organism-specific databases

HPAiHPA044712.

Interactioni

Subunit structurei

Interacts with ARF6.1 Publication

Protein-protein interaction databases

BioGridi121535. 16 interactions.
IntActiQ9ULP9. 5 interactions.
STRINGi9606.ENSP00000293970.

Structurei

3D structure databases

ProteinModelPortaliQ9ULP9.
SMRiQ9ULP9. Positions 339-554.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini47 – 262216Rab-GAP TBCAdd
BLAST
Domaini368 – 554187TLDAdd
BLAST

Sequence similaritiesi

Contains 1 Rab-GAP TBC domain.Curated
Contains 1 TLD domain.Curated

Phylogenomic databases

eggNOGiKOG2801. Eukaryota.
ENOG410ZI2X. LUCA.
GeneTreeiENSGT00410000025739.
HOGENOMiHOG000273861.
HOVERGENiHBG068667.
InParanoidiQ9ULP9.
OMAiRQGYWAK.
OrthoDBiEOG091G03K9.
PhylomeDBiQ9ULP9.
TreeFamiTF315420.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR006571. TLDc_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
PF07534. TLD. 2 hits.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
SM00584. TLDc. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9ULP9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDSPGYNCFV DKDKMDAAIQ DLGPKELSCT ELQELKQLAR QGYWAQSHAL
60 70 80 90 100
RGKVYQRLIR DIPCRTVTPD ASVYSDIVGK IVGKHSSSCL PLPEFVDNTQ
110 120 130 140 150
VPSYCLNARG EGAVRKILLC LANQFPDISF CPALPAVVAL LLHYSIDEAE
160 170 180 190 200
CFEKACRILA CNDPGRRLID QSFLAFESSC MTFGDLVNKY CQAAHKLMVA
210 220 230 240 250
VSEDVLQVYA DWQRWLFGEL PLCYFARVFD VFLVEGYKVL YRVALAILKF
260 270 280 290 300
FHKVRAGQPL ESDSVKQDIR TFVRDIAKTV SPEKLLEKAF AIRLFSRKEI
310 320 330 340 350
QLLQMANEKA LKQKGITVKQ KSVSLSKRQF VHLAVHAENF RSEIVSVREM
360 370 380 390 400
RDIWSWVPER FALCQPLLLF SSLQHGYSLA RFYFQCEGHE PTLLLIKTTQ
410 420 430 440 450
KEVCGAYLST DWSERNKFGG KLGFFGTGEC FVFRLQPEVQ RYEWVVIKHP
460 470 480 490 500
ELTKPPPLMA AEPTAPLSHS ASSDPADRLS PFLAARHFNL PSKTESMFMA
510 520 530 540 550
GGSDCLIVGG GGGQALYIDG DLNRGRTSHC DTFNNQPLCS ENFLIAAVEA

WGFQDPDTQ
Length:559
Mass (Da):62,919
Last modified:May 29, 2007 - v2
Checksum:i0F4EA43297ACC7F9
GO
Isoform 2 (identifier: Q9ULP9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-327: Missing.

Note: No experimental confirmation available.
Show »
Length:553
Mass (Da):62,318
Checksum:i3B2784C7C136FAE4
GO

Sequence cautioni

The sequence BAA86485 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201Q → E in DOORS. 1 Publication
Corresponds to variant rs201257588 [ dbSNP | Ensembl ].
VAR_070912
Natural varianti40 – 401R → C in DOORS. 1 Publication
Corresponds to variant rs398122966 [ dbSNP | Ensembl ].
VAR_070913
Natural varianti70 – 701D → Y in DFNB86. 1 Publication
Corresponds to variant rs587777147 [ dbSNP | Ensembl ].
VAR_070994
Natural varianti110 – 1101G → S in DOORS. 1 Publication
Corresponds to variant rs747821285 [ dbSNP | Ensembl ].
VAR_070914
Natural varianti147 – 1471D → H in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons. 1 Publication
Corresponds to variant rs267607103 [ dbSNP | Ensembl ].
VAR_064365
Natural varianti178 – 1781S → L in DFNA65. 2 Publications
Corresponds to variant rs483352866 [ dbSNP | Ensembl ].
VAR_072107
Natural varianti229 – 2291F → S in EIEE16; loss of function mutation; impairs the interaction with ARF6; overexpression of the mutant protein in primary cortical neurons abolishes the ability to increase neurite length and arborization. 1 Publication
Corresponds to variant rs397514713 [ dbSNP | Ensembl ].
VAR_070102
Natural varianti242 – 2421R → C in DOORS. 1 Publication
Corresponds to variant rs398122965 [ dbSNP | Ensembl ].
VAR_070915
Natural varianti251 – 2511F → L in FIME; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 Publication
Corresponds to variant rs267607104 [ dbSNP | Ensembl ].
VAR_064366
Natural varianti293 – 2931R → P in DFNB86. 1 Publication
Corresponds to variant rs199700840 [ dbSNP | Ensembl ].
VAR_070995
Natural varianti295 – 2951F → L.2 Publications
Corresponds to variant rs72768728 [ dbSNP | Ensembl ].
VAR_070890
Natural varianti333 – 3331L → F in DOORS. 1 Publication
VAR_070916
Natural varianti515 – 5151A → V in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 Publication
Corresponds to variant rs267607105 [ dbSNP | Ensembl ].
VAR_064367

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei322 – 3276Missing in isoform 2. 1 PublicationVSP_025701

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB032997 mRNA. Translation: BAA86485.1. Different initiation.
AB449911 mRNA. Translation: BAH16654.1.
BC112389 mRNA. Translation: AAI12390.1.
BC127014 mRNA. Translation: AAI27015.1.
BC127015 mRNA. Translation: AAI27016.1.
CCDSiCCDS42107.1. [Q9ULP9-2]
CCDS55980.1. [Q9ULP9-1]
RefSeqiNP_001186036.1. NM_001199107.1. [Q9ULP9-1]
NP_065756.1. NM_020705.2. [Q9ULP9-2]
UniGeneiHs.353087.

Genome annotation databases

EnsembliENST00000293970; ENSP00000293970; ENSG00000162065. [Q9ULP9-1]
ENST00000567020; ENSP00000454408; ENSG00000162065. [Q9ULP9-2]
ENST00000627285; ENSP00000486121; ENSG00000162065. [Q9ULP9-2]
GeneIDi57465.
KEGGihsa:57465.
UCSCiuc002cqk.4. human. [Q9ULP9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB032997 mRNA. Translation: BAA86485.1. Different initiation.
AB449911 mRNA. Translation: BAH16654.1.
BC112389 mRNA. Translation: AAI12390.1.
BC127014 mRNA. Translation: AAI27015.1.
BC127015 mRNA. Translation: AAI27016.1.
CCDSiCCDS42107.1. [Q9ULP9-2]
CCDS55980.1. [Q9ULP9-1]
RefSeqiNP_001186036.1. NM_001199107.1. [Q9ULP9-1]
NP_065756.1. NM_020705.2. [Q9ULP9-2]
UniGeneiHs.353087.

3D structure databases

ProteinModelPortaliQ9ULP9.
SMRiQ9ULP9. Positions 339-554.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121535. 16 interactions.
IntActiQ9ULP9. 5 interactions.
STRINGi9606.ENSP00000293970.

PTM databases

iPTMnetiQ9ULP9.
PhosphoSiteiQ9ULP9.

Polymorphism and mutation databases

BioMutaiTBC1D24.
DMDMi148887040.

Proteomic databases

EPDiQ9ULP9.
MaxQBiQ9ULP9.
PaxDbiQ9ULP9.
PeptideAtlasiQ9ULP9.
PRIDEiQ9ULP9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293970; ENSP00000293970; ENSG00000162065. [Q9ULP9-1]
ENST00000567020; ENSP00000454408; ENSG00000162065. [Q9ULP9-2]
ENST00000627285; ENSP00000486121; ENSG00000162065. [Q9ULP9-2]
GeneIDi57465.
KEGGihsa:57465.
UCSCiuc002cqk.4. human. [Q9ULP9-1]

Organism-specific databases

CTDi57465.
GeneCardsiTBC1D24.
HGNCiHGNC:29203. TBC1D24.
HPAiHPA044712.
MalaCardsiTBC1D24.
MIMi220500. phenotype.
605021. phenotype.
613577. gene.
614617. phenotype.
615338. phenotype.
616044. phenotype.
neXtProtiNX_Q9ULP9.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
79500. DOORS syndrome.
352582. Familial infantile myoclonic epilepsy.
352587. Focal epilepsy - intellectual disability - cerebro-cerebellar malformation.
293181. Malignant migrating partial seizures of infancy.
352596. Progressive myoclonic epilepsy with dystonia.
PharmGKBiPA144596267.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2801. Eukaryota.
ENOG410ZI2X. LUCA.
GeneTreeiENSGT00410000025739.
HOGENOMiHOG000273861.
HOVERGENiHBG068667.
InParanoidiQ9ULP9.
OMAiRQGYWAK.
OrthoDBiEOG091G03K9.
PhylomeDBiQ9ULP9.
TreeFamiTF315420.

Miscellaneous databases

ChiTaRSiTBC1D24. human.
GenomeRNAii57465.
PROiQ9ULP9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000162065.
CleanExiHS_TBC1D24.
ExpressionAtlasiQ9ULP9. baseline and differential.
GenevisibleiQ9ULP9. HS.

Family and domain databases

InterProiIPR000195. Rab-GTPase-TBC_dom.
IPR006571. TLDc_dom.
[Graphical view]
PfamiPF00566. RabGAP-TBC. 1 hit.
PF07534. TLD. 2 hits.
[Graphical view]
SMARTiSM00164. TBC. 1 hit.
SM00584. TLDc. 1 hit.
[Graphical view]
SUPFAMiSSF47923. SSF47923. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiTBC24_HUMAN
AccessioniPrimary (citable) accession number: Q9ULP9
Secondary accession number(s): A0JNW3, B9A6M6, Q2KJ08
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: September 7, 2016
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.