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UniProtKB - Q9NUY8 (TBC23_HUMAN)

Entry version 146 (12 Aug 2020)
Sequence version 3 (13 Jul 2010)
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Protein

TBC1 domain family member 23

Gene

TBC1D23

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

Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707). Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865). Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865). Plays a role in brain development, including in cortical neuron positioning (By similarity). May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity). May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity).By similarity3 Publications

<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 - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDevelopmental protein

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NUY8

<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%5Fand%5Ftaxonomy%5Fsection">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 23
Alternative name(s):
HCV non-structural protein 4A-transactivated protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TBC1D23
Synonyms:NS4ATP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000036054.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:25622, TBC1D23

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		617687, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NUY8

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasmic vesicle, Golgi apparatus

<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

Pontocerebellar hypoplasia 11 (PCH11)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive.
Related information in OMIM
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_080040518R → Q in PCH11; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		55773

MalaCards human disease database

More...MalaCardsi		TBC1D23
MIMi617695, phenotype

Open Targets

More...OpenTargetsi		ENSG00000036054

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670829

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NUY8, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TBC1D23

Domain mapping of disease mutations (DMDM)

More...DMDMi		300669675

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002874971 – 699TBC1 domain family member 23Add BLAST699

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 residuei300PhosphoserineCombined sources1
Modified residuei469PhosphoserineBy similarity1
Modified residuei474PhosphoserineCombined sources1
Modified residuei507PhosphoserineCombined sources1
Modified residuei514PhosphothreonineCombined sources1
Modified residuei520PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NUY8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NUY8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NUY8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NUY8

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

More...PaxDbi		Q9NUY8

PeptideAtlas

More...PeptideAtlasi		Q9NUY8

PRoteomics IDEntifications database

More...PRIDEi		Q9NUY8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82728 [Q9NUY8-1]
82729 [Q9NUY8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NUY8

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

More...PhosphoSitePlusi		Q9NUY8

<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

Isoform 1: Widely expressed, including in fetal adult brain (corpus callosum, pons, cerebellum), spinal cord, heart, skeletal muscle, thymus and bone marrow, and at lower levels in spleen. Hardly detected in liver, kidney, colon and testis. Isoform 2: Expressed at high levels in liver, kidney, colon and testis. Hardly detected in tissues expressing high levels of isoform 1. Expressed at low levels in spleen.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000036054, Expressed in quadriceps femoris and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NUY8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NUY8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000036054, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Directly interacts with GOLGA1 and GOLGA4 (PubMed:29084197).

Interacts with FAM91A1, C17ORF75 and WDR11; the interaction recruits TBC1D23 to AP-1-derived vesicles (PubMed:29084197, PubMed:29426865). Directly interacts with WASHC1 and WASHC2A/FAM21A (PubMed:29084197).

Interacts with FKBP15 (PubMed:29084197).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120889, 28 interactors

Protein interaction database and analysis system

More...IntActi		Q9NUY8, 19 interactors

Molecular INTeraction database

More...MINTi		Q9NUY8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000377700

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NUY8, protein

<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

Secondary structure

1699
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9NUY8

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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>Domaini44 – 225Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST182
Domaini334 – 446RhodanesePROSITE-ProRule annotationAdd BLAST113

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>Regioni514 – 699May mediate the interaction with WASHC1By similarityAdd BLAST186
Regioni514 – 573May mediate the interaction with C17orf75, FAM91A1 and WDR11By similarityAdd BLAST60
Regioni574 – 699May mediate the interaction with FKBP15 and WASHC2; required for endosome to Golgi traffickingBy similarityAdd BLAST126

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3636, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000000191

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_026555_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NUY8

KEGG Orthology (KO)

More...KOi		K22555

Identification of Orthologs from Complete Genome Data

More...OMAi		YNAGHLP

Database of Orthologous Groups

More...OrthoDBi		429640at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NUY8

TreeFam database of animal gene trees

More...TreeFami		TF105892

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.250.10, 1 hit

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
IPR001763, Rhodanese-like_dom
IPR036873, Rhodanese-like_dom_sf
IPR039755, TBC1D23

The PANTHER Classification System

More...PANTHERi		PTHR13297, PTHR13297, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00566, RabGAP-TBC, 1 hit
PF00581, Rhodanese, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47923, SSF47923, 2 hits
SSF52821, SSF52821, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50206, RHODANESE_3, 1 hit
PS50086, TBC_RABGAP, 1 hit

<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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NUY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAEGEDVPPL PTSSGDGWEK DLEEALEAGG CDLETLRNII QGRPLPADLR 
        60         70         80         90        100
AKVWKIALNV AGKGDSLASW DGILDLPEQN TIHKDCLQFI DQLSVPEEKA 
       110        120        130        140        150
AELLLDIESV ITFYCKSRNI KYSTSLSWIH LLKPLVHLQL PRSDLYNCFY 
       160        170        180        190        200
AIMNKYIPRD CSQKGRPFHL FRLLIQYHEP ELCSYLDTKK ITPDSYALNW 
       210        220        230        240        250
LGSLFACYCS TEVTQAIWDG YLQQADPFFI YFLMLIILVN AKEVILTQES 
       260        270        280        290        300
DSKEEVIKFL ENTPSSLNIE DIEDLFSLAQ YYCSKTPASF RKDNHHLFGS 
       310        320        330        340        350
TLLGIKDDDA DLSQALCLAI SVSEILQANQ LQGEGVRFFV VDCRPAEQYN 
       360        370        380        390        400
AGHLSTAFHL DSDLMLQNPS EFAQSVKSLL EAQKQSIESG SIAGGEHLCF 
       410        420        430        440        450
MGSGREEEDM YMNMVLAHFL QKNKEYVSIA SGGFMALQQH LADINVDGPE 
       460        470        480        490        500
NGYGHWIAST SGSRSSINSV DGESPNGSSD RGMKSLVNKM TVALKTKSVN 
       510        520        530        540        550
VREKVISFIE NTSTPVDRMS FNLPWPDRSC TERHVSSSDR VGKPYRGVKP 
       560        570        580        590        600
VFSIGDEEEY DTDEIDSSSM SDDDRKEVVN IQTWINKPDV KHHFPCKEVK 
       610        620        630        640        650
ESGHMFPSHL LVTATHMYCL REIVSRKGLA YIQSRQALNS VVKITSKKKH 
       660        670        680        690 
PELITFKYGN SSASGIEILA IERYLIPNAG DATKAIKQQI MKVLDALES
Length:699
Mass (Da):78,322
Last modified:July 13, 2010 - v3
<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:iC0AEB80E044B0F98
GO
Isoform 2 (identifier: Q9NUY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     518-532: Missing.

Show »
Length:684
Mass (Da):76,501
Checksum:i06960AE231A64926
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PGE5E9PGE5_HUMAN
TBC1 domain family member 23
TBC1D23
562Annotation score:

Annotation score:2 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>
C9JAM5C9JAM5_HUMAN
TBC1 domain family member 23
TBC1D23
189Annotation 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>
C9IZ32C9IZ32_HUMAN
TBC1 domain family member 23
TBC1D23
171Annotation 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 AAH10221 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAH20955 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91881 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti66S → C in BAH16653 (PubMed:19077034).Curated1
Sequence conflicti66S → C in BAA91973 (PubMed:14702039).Curated1
Sequence conflicti170L → P in BAH16653 (PubMed:19077034).Curated1
Sequence conflicti170L → P in BAA91973 (PubMed:14702039).Curated1
Sequence conflicti360L → S in BAA91973 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080040518R → Q in PCH11; unknown pathological significance. 1 Publication1

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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_025519518 – 532Missing in isoform 2. 3 PublicationsAdd BLAST15

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
AB449910 mRNA Translation: BAH16653.1
AK001750 mRNA Translation: BAA91881.1 Different initiation.
AK001908 mRNA Translation: BAA91973.1
AC078783 Genomic DNA No translation available.
AC093003 Genomic DNA No translation available.
BC010221 mRNA Translation: AAH10221.1 Different initiation.
BC020955 mRNA Translation: AAH20955.1 Different initiation.
AL713684 mRNA Translation: CAD28488.1
AY740521 mRNA Translation: AAW66944.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2936.1 [Q9NUY8-2]
CCDS56265.1 [Q9NUY8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001186127.1, NM_001199198.2 [Q9NUY8-1]
NP_060779.2, NM_018309.4 [Q9NUY8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000344949; ENSP00000340693; ENSG00000036054 [Q9NUY8-2]
ENST00000394144; ENSP00000377700; ENSG00000036054 [Q9NUY8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55773

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55773

UCSC genome browser

More...UCSCi		uc003dts.5, human [Q9NUY8-1]

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
AB449910 mRNA Translation: BAH16653.1
AK001750 mRNA Translation: BAA91881.1 Different initiation.
AK001908 mRNA Translation: BAA91973.1
AC078783 Genomic DNA No translation available.
AC093003 Genomic DNA No translation available.
BC010221 mRNA Translation: AAH10221.1 Different initiation.
BC020955 mRNA Translation: AAH20955.1 Different initiation.
AL713684 mRNA Translation: CAD28488.1
AY740521 mRNA Translation: AAW66944.1
CCDSiCCDS2936.1 [Q9NUY8-2]
CCDS56265.1 [Q9NUY8-1]
RefSeqiNP_001186127.1, NM_001199198.2 [Q9NUY8-1]
NP_060779.2, NM_018309.4 [Q9NUY8-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6JL7X-ray2.50A17-460[»]
6JM5X-ray1.60A/B577-699[»]
SMRiQ9NUY8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120889, 28 interactors
IntActiQ9NUY8, 19 interactors
MINTiQ9NUY8
STRINGi9606.ENSP00000377700

PTM databases

iPTMnetiQ9NUY8
PhosphoSitePlusiQ9NUY8

Polymorphism and mutation databases

BioMutaiTBC1D23
DMDMi300669675

Proteomic databases

EPDiQ9NUY8
jPOSTiQ9NUY8
MassIVEiQ9NUY8
MaxQBiQ9NUY8
PaxDbiQ9NUY8
PeptideAtlasiQ9NUY8
PRIDEiQ9NUY8
ProteomicsDBi82728 [Q9NUY8-1]
82729 [Q9NUY8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		46507, 57 antibodies

Genome annotation databases

EnsembliENST00000344949; ENSP00000340693; ENSG00000036054 [Q9NUY8-2]
ENST00000394144; ENSP00000377700; ENSG00000036054 [Q9NUY8-1]
GeneIDi55773
KEGGihsa:55773
UCSCiuc003dts.5, human [Q9NUY8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55773
DisGeNETi55773
EuPathDBiHostDB:ENSG00000036054.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		TBC1D23
HGNCiHGNC:25622, TBC1D23
HPAiENSG00000036054, Low tissue specificity
MalaCardsiTBC1D23
MIMi617687, gene
617695, phenotype
neXtProtiNX_Q9NUY8
OpenTargetsiENSG00000036054
PharmGKBiPA142670829

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3636, Eukaryota
GeneTreeiENSGT00390000000191
HOGENOMiCLU_026555_0_0_1
InParanoidiQ9NUY8
KOiK22555
OMAiYNAGHLP
OrthoDBi429640at2759
PhylomeDBiQ9NUY8
TreeFamiTF105892

Enzyme and pathway databases

PathwayCommonsiQ9NUY8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55773, 10 hits in 872 CRISPR screens

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

More...ChiTaRSi		TBC1D23, human

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

More...GenomeRNAii		55773
PharosiQ9NUY8, Tbio

Protein Ontology

More...PROi		PR:Q9NUY8
RNActiQ9NUY8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000036054, Expressed in quadriceps femoris and 216 other tissues
ExpressionAtlasiQ9NUY8, baseline and differential
GenevisibleiQ9NUY8, HS

Family and domain databases

Gene3Di3.40.250.10, 1 hit
InterProiView protein in InterPro
IPR000195, Rab-GTPase-TBC_dom
IPR035969, Rab-GTPase_TBC_sf
IPR001763, Rhodanese-like_dom
IPR036873, Rhodanese-like_dom_sf
IPR039755, TBC1D23
PANTHERiPTHR13297, PTHR13297, 1 hit
PfamiView protein in Pfam
PF00566, RabGAP-TBC, 1 hit
PF00581, Rhodanese, 1 hit
SMARTiView protein in SMART
SM00164, TBC, 1 hit
SUPFAMiSSF47923, SSF47923, 2 hits
SSF52821, SSF52821, 1 hit
PROSITEiView protein in PROSITE
PS50206, RHODANESE_3, 1 hit
PS50086, TBC_RABGAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiTBC23_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: Q9NUY8
Secondary accession number(s): B9A6M5
, Q8TCN8, Q8WUB7, Q96D90, Q9NV75
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: July 13, 2010
Last modified: August 12, 2020
This is version 146 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
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