Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

TBC1 domain family member 24

Gene

TBC1D24

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei36PhosphatidylinositolBy similarity1
Binding sitei40PhosphatidylinositolBy similarity1
Binding sitei238PhosphatidylinositolBy similarity1
Binding sitei242PhosphatidylinositolBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • neuron projection development Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8854214 TBC/RABGAPs

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
TBC1 domain family member 24
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TBC1D24
Synonyms:KIAA1171
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000162065.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29203 TBC1D24

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613577 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9ULP9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoplasmic vesicle, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064365147D → H in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons. 1 PublicationCorresponds to variant dbSNP:rs267607103EnsemblClinVar.1
Natural variantiVAR_064366251F → L in FIME; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 PublicationCorresponds to variant dbSNP:rs267607104EnsemblClinVar.1
Natural variantiVAR_064367515A → V in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 PublicationCorresponds to variant dbSNP:rs267607105EnsemblClinVar.1
Epileptic encephalopathy, early infantile, 16 (EIEE16)2 Publications
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_078184113A → D in EIEE16. 1 PublicationCorresponds to variant dbSNP:rs770820144EnsemblClinVar.1
Natural variantiVAR_078185159L → P in EIEE16. 1 PublicationCorresponds to variant dbSNP:rs863223337EnsemblClinVar.1
Natural variantiVAR_070102229F → 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 PublicationCorresponds to variant dbSNP:rs397514713EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_072107178S → L in DFNA65. 2 PublicationsCorresponds to variant dbSNP:rs483352866EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07091220Q → E in DOORS. 1 PublicationCorresponds to variant dbSNP:rs201257588EnsemblClinVar.1
Natural variantiVAR_07091340R → C in DOORS. 1 PublicationCorresponds to variant dbSNP:rs398122966EnsemblClinVar.1
Natural variantiVAR_070914110G → S in DOORS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747821285EnsemblClinVar.1
Natural variantiVAR_070915242R → C in DOORS. 1 PublicationCorresponds to variant dbSNP:rs398122965EnsemblClinVar.1
Natural variantiVAR_070916333L → F in DOORS. 1 PublicationCorresponds to variant dbSNP:rs797044548EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_07099470D → Y in DFNB86. 1 PublicationCorresponds to variant dbSNP:rs587777147EnsemblClinVar.1
Natural variantiVAR_070995293R → P in DFNB86. 1 PublicationCorresponds to variant dbSNP:rs199700840EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
57465

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TBC1D24

MalaCards human disease database

More...
MalaCardsi
TBC1D24
MIMi220500 phenotype
605021 phenotype
614617 phenotype
615338 phenotype
616044 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000162065

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90635 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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA144596267

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TBC1D24

Domain mapping of disease mutations (DMDM)

More...
DMDMi
148887040

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002885041 – 559TBC1 domain family member 24Add BLAST559

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei473PhosphoserineCombined sources1
Modified residuei480PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9ULP9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9ULP9

PeptideAtlas

More...
PeptideAtlasi
Q9ULP9

PRoteomics IDEntifications database

More...
PRIDEi
Q9ULP9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85090
85091 [Q9ULP9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9ULP9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9ULP9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highest expression in brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162065 Expressed in 185 organ(s), highest expression level in parotid gland

CleanEx database of gene expression profiles

More...
CleanExi
HS_TBC1D24

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9ULP9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9ULP9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044712
HPA068080

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with ARF6.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
121535, 20 interactors

Protein interaction database and analysis system

More...
IntActi
Q9ULP9, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000293970

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9ULP9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9ULP9

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini47 – 262Rab-GAP TBCAdd BLAST216
Domaini368 – 554TLDAdd BLAST187

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni293 – 297Phosphatidylinositol bindingBy similarity5

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Rab-GAP TBC domain is essential for phosphatidylinositol binding.By similarity

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2801 Eukaryota
ENOG410ZI2X LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00410000025739

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000273861

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG068667

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9ULP9

KEGG Orthology (KO)

More...
KOi
K21841

Identification of Orthologs from Complete Genome Data

More...
OMAi
GCSLSRF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G03K9

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9ULP9

TreeFam database of animal gene trees

More...
TreeFami
TF315420

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR040149 TBC1D24
IPR006571 TLDc_dom

The PANTHER Classification System

More...
PANTHERi
PTHR23353:SF6 PTHR23353:SF6, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00566 RabGAP-TBC, 1 hit
PF07534 TLD, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00164 TBC, 1 hit
SM00584 TLDc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47923 SSF47923, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BNU1H3BNU1_HUMAN
TBC1 domain family member 24
TBC1D24
553Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BV07H3BV07_HUMAN
TBC1 domain family member 24
TBC1D24
455Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFR5A0A0D9SFR5_HUMAN
TBC1 domain family member 24
TBC1D24
339Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BTP5H3BTP5_HUMAN
TBC1 domain family member 24
TBC1D24
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y518A0A2R8Y518_HUMAN
TBC1 domain family member 24
TBC1D24
465Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07091220Q → E in DOORS. 1 PublicationCorresponds to variant dbSNP:rs201257588EnsemblClinVar.1
Natural variantiVAR_07091340R → C in DOORS. 1 PublicationCorresponds to variant dbSNP:rs398122966EnsemblClinVar.1
Natural variantiVAR_07099470D → Y in DFNB86. 1 PublicationCorresponds to variant dbSNP:rs587777147EnsemblClinVar.1
Natural variantiVAR_070914110G → S in DOORS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747821285EnsemblClinVar.1
Natural variantiVAR_078184113A → D in EIEE16. 1 PublicationCorresponds to variant dbSNP:rs770820144EnsemblClinVar.1
Natural variantiVAR_064365147D → H in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons. 1 PublicationCorresponds to variant dbSNP:rs267607103EnsemblClinVar.1
Natural variantiVAR_078185159L → P in EIEE16. 1 PublicationCorresponds to variant dbSNP:rs863223337EnsemblClinVar.1
Natural variantiVAR_072107178S → L in DFNA65. 2 PublicationsCorresponds to variant dbSNP:rs483352866EnsemblClinVar.1
Natural variantiVAR_070102229F → 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 PublicationCorresponds to variant dbSNP:rs397514713EnsemblClinVar.1
Natural variantiVAR_070915242R → C in DOORS. 1 PublicationCorresponds to variant dbSNP:rs398122965EnsemblClinVar.1
Natural variantiVAR_064366251F → L in FIME; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 PublicationCorresponds to variant dbSNP:rs267607104EnsemblClinVar.1
Natural variantiVAR_070995293R → P in DFNB86. 1 PublicationCorresponds to variant dbSNP:rs199700840EnsemblClinVar.1
Natural variantiVAR_070890295F → L2 PublicationsCorresponds to variant dbSNP:rs72768728EnsemblClinVar.1
Natural variantiVAR_070916333L → F in DOORS. 1 PublicationCorresponds to variant dbSNP:rs797044548EnsemblClinVar.1
Natural variantiVAR_064367515A → V in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons. 1 PublicationCorresponds to variant dbSNP:rs267607105EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_025701322 – 327Missing in isoform 2. 1 Publication6

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42107.1 [Q9ULP9-2]
CCDS55980.1 [Q9ULP9-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001186036.1, NM_001199107.1 [Q9ULP9-1]
NP_065756.1, NM_020705.2 [Q9ULP9-2]
XP_016878982.1, XM_017023493.1 [Q9ULP9-1]
XP_016878983.1, XM_017023494.1 [Q9ULP9-2]
XP_016878984.1, XM_017023495.1 [Q9ULP9-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.353087

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000293970; ENSP00000293970; ENSG00000162065 [Q9ULP9-1]
ENST00000567020; ENSP00000454408; ENSG00000162065 [Q9ULP9-2]
ENST00000569874; ENSP00000455005; ENSG00000162065 [Q9ULP9-2]
ENST00000627285; ENSP00000486121; ENSG00000162065 [Q9ULP9-2]
ENST00000646147; ENSP00000494678; ENSG00000162065 [Q9ULP9-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57465

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57465

UCSC genome browser

More...
UCSCi
uc002cqk.4 human [Q9ULP9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]
XP_016878982.1, XM_017023493.1 [Q9ULP9-1]
XP_016878983.1, XM_017023494.1 [Q9ULP9-2]
XP_016878984.1, XM_017023495.1 [Q9ULP9-2]
UniGeneiHs.353087

3D structure databases

ProteinModelPortaliQ9ULP9
SMRiQ9ULP9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121535, 20 interactors
IntActiQ9ULP9, 5 interactors
STRINGi9606.ENSP00000293970

PTM databases

iPTMnetiQ9ULP9
PhosphoSitePlusiQ9ULP9

Polymorphism and mutation databases

BioMutaiTBC1D24
DMDMi148887040

Proteomic databases

EPDiQ9ULP9
PaxDbiQ9ULP9
PeptideAtlasiQ9ULP9
PRIDEiQ9ULP9
ProteomicsDBi85090
85091 [Q9ULP9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293970; ENSP00000293970; ENSG00000162065 [Q9ULP9-1]
ENST00000567020; ENSP00000454408; ENSG00000162065 [Q9ULP9-2]
ENST00000569874; ENSP00000455005; ENSG00000162065 [Q9ULP9-2]
ENST00000627285; ENSP00000486121; ENSG00000162065 [Q9ULP9-2]
ENST00000646147; ENSP00000494678; ENSG00000162065 [Q9ULP9-1]
GeneIDi57465
KEGGihsa:57465
UCSCiuc002cqk.4 human [Q9ULP9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57465
DisGeNETi57465
EuPathDBiHostDB:ENSG00000162065.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TBC1D24
GeneReviewsiTBC1D24
HGNCiHGNC:29203 TBC1D24
HPAiHPA044712
HPA068080
MalaCardsiTBC1D24
MIMi220500 phenotype
605021 phenotype
613577 gene
614617 phenotype
615338 phenotype
616044 phenotype
neXtProtiNX_Q9ULP9
OpenTargetsiENSG00000162065
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

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2801 Eukaryota
ENOG410ZI2X LUCA
GeneTreeiENSGT00410000025739
HOGENOMiHOG000273861
HOVERGENiHBG068667
InParanoidiQ9ULP9
KOiK21841
OMAiGCSLSRF
OrthoDBiEOG091G03K9
PhylomeDBiQ9ULP9
TreeFamiTF315420

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TBC1D24 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57465

Protein Ontology

More...
PROi
PR:Q9ULP9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000162065 Expressed in 185 organ(s), highest expression level in parotid gland
CleanExiHS_TBC1D24
ExpressionAtlasiQ9ULP9 baseline and differential
GenevisibleiQ9ULP9 HS

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR040149 TBC1D24
IPR006571 TLDc_dom
PANTHERiPTHR23353:SF6 PTHR23353:SF6, 1 hit
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
PF07534 TLD, 2 hits
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SM00584 TLDc, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTBC24_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9ULP9
Secondary accession number(s): A0JNW3, B9A6M6, Q2KJ08
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: December 5, 2018
This is version 120 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again