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UniProtKB - Q96BZ9 (TBC20_HUMAN)

Entry version 148 (02 Jun 2021)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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Protein

TBC1 domain family member 20

Gene

TBC1D20

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

GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei105Arginine finger1 Publication1
Sitei144Glutamine finger1 Publication1

<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

Complete GO annotation on QuickGO ...

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 functionGTPase activation
Biological processHost-virus interaction

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96BZ9

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-204005, COPII-mediated vesicle transport
R-HSA-8854214, TBC/RABGAPs

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q96BZ9

<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 20
<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:TBC1D20
Synonyms:C20orf140
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16133, TBC1D20

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611663, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96BZ9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000125875.13

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Transmembranei367 – 387HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

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

Warburg micro syndrome 4 (WARBM4)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi105R → A: 1000-fold decrease in GAP activity. 1 Publication1
Mutagenesisi144Q → L: 1000-fold decrease in GAP activity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		128637

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

More...GeneReviewsi		TBC1D20

MalaCards human disease database

More...MalaCardsi		TBC1D20
MIMi615663, phenotype

Open Targets

More...OpenTargetsi		ENSG00000125875

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

More...Orphaneti		2510, Micro syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25683

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96BZ9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TBC1D20

Domain mapping of disease mutations (DMDM)

More...DMDMi		34395569

<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_00002080481 – 403TBC1 domain family member 20Add BLAST403

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96BZ9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96BZ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96BZ9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96BZ9

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

More...PaxDbi		Q96BZ9

PeptideAtlas

More...PeptideAtlasi		Q96BZ9

PRoteomics IDEntifications database

More...PRIDEi		Q96BZ9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76134 [Q96BZ9-1]
76135 [Q96BZ9-2]
76136 [Q96BZ9-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96BZ9

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q96BZ9

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

More...PhosphoSitePlusi		Q96BZ9

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125875, Expressed in tendon and 213 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96BZ9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125875, 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

(Microbial infection) Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.

1 Publication

<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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		126139, 22 interactors

Protein interaction database and analysis system

More...IntActi		Q96BZ9, 9 interactors

Molecular INTeraction database

More...MINTi		Q96BZ9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000346139

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96BZ9, 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

1403
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		Q96BZ9

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>Domaini60 – 246Rab-GAP TBCPROSITE-ProRule annotationAdd 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>Regioni1 – 25DisorderedSequence analysisAdd BLAST25

<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 arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rab's 'switch 2' glutamine and insert in Rab's active site.1 Publication

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2595, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000014944

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_039465_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96BZ9

Identification of Orthologs from Complete Genome Data

More...OMAi		MYAHNIE

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96BZ9

TreeFam database of animal gene trees

More...TreeFami		TF105942

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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00566, RabGAP-TBC, 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

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
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 (3+)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 3 <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 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96BZ9-1) [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
MALRSAQGDG PTSGHWDGGA EKADFNAKRK KKVAEIHQAL NSDPTDVAAL 
        60         70         80         90        100
RRMAISEGGL LTDEIRRKVW PKLLNVNAND PPPISGKNLR QMSKDYQQVL 
       110        120        130        140        150
LDVRRSLRRF PPGMPEEQRE GLQEELIDII LLILERNPQL HYYQGYHDIV 
       160        170        180        190        200
VTFLLVVGER LATSLVEKLS THHLRDFMDP TMDNTKHILN YLMPIIDQVN 
       210        220        230        240        250
PELHDFMQSA EVGTIFALSW LITWFGHVLS DFRHVVRLYD FFLACHPLMP 
       260        270        280        290        300
IYFAAVIVLY REQEVLDCDC DMASVHHLLS QIPQDLPYET LISRAGDLFV 
       310        320        330        340        350
QFPPSELARE AAAQQQAERT AASTFKDFEL ASAQQRPDMV LRQRFRGLLR 
       360        370        380        390        400
PEDRTKDVLT KPRTNRFVKL AVMGLTVALG AAALAVVKSA LEWAPKFQLQ 

LFP
Length:403
Mass (Da):45,855
Last modified:December 1, 2001 - v1
<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:i70B011A33DEF527D
GO
Isoform 2 (identifier: Q96BZ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-192: Missing.
     209-364: SAEVGTIFAL...TKDVLTKPRT → RYICVCISVC...LANASFFKIF
     365-403: Missing.

Note: May be due to intron retention.Curated
Show »
Length:172
Mass (Da):19,381
Checksum:iD2D5BE89785800C6
GO
Isoform 3 (identifier: Q96BZ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPSGCYVPRSEPRLLPAPPPAGARVG

Show »
Length:428
Mass (Da):48,382
Checksum:i6D826FCBCF5A491A
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7P0TBA8A0A7P0TBA8_HUMAN
TBC1 domain family member 20
TBC1D20 hCG_39876
199Annotation 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>
A0A7P0T865A0A7P0T865_HUMAN
TBC1 domain family member 20
TBC1D20
378Annotation 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>
A0A7P0T876A0A7P0T876_HUMAN
TBC1 domain family member 20
TBC1D20
177Annotation 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>
A0A7P0T8Q3A0A7P0T8Q3_HUMAN
TBC1 domain family member 20
TBC1D20
435Annotation 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>
A0A7P0T991A0A7P0T991_HUMAN
TBC1 domain family member 20
TBC1D20
341Annotation 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>
A0A7P0T9R2A0A7P0T9R2_HUMAN
TBC1 domain family member 20
TBC1D20
376Annotation 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>
A0A7P0TAF7A0A7P0TAF7_HUMAN
TBC1 domain family member 20
TBC1D20
126Annotation 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>
A0A7P0TBI8A0A7P0TBI8_HUMAN
TBC1 domain family member 20
TBC1D20
379Annotation 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>

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 conflicti117E → G in BAC86808 (PubMed:14702039).Curated1

Natural variant

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_05254379N → S. Corresponds to variant dbSNP:rs36088178EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0081001 – 192Missing in isoform 2. 1 PublicationAdd BLAST192
Alternative sequenceiVSP_0315241M → MPSGCYVPRSEPRLLPAPPP AGARVG in isoform 3. 1 Publication1
Alternative sequenceiVSP_008101209 – 364SAEVG…TKPRT → RYICVCISVCMHTHAHTPPH LKHSSQAERSFLIVLGGFVK FSPVVPVTSNLGNSVLGAFL GTVLFGGHSPSLEFTSSGER WIRYVCQGKMLRLLPQEKHK VLWDPVARRGRPTMGCFISQ VPKRRNIFLQIPCDVLFLLC LVGNVFLANASFFKIF in isoform 2. 1 PublicationAdd BLAST156
Alternative sequenceiVSP_008102365 – 403Missing in isoform 2. 1 PublicationAdd BLAST39

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
AB449906 mRNA Translation: BAH16649.1
AK055573 mRNA No translation available.
AK127062 mRNA Translation: BAC86808.1
AK291648 mRNA Translation: BAF84337.1
AL049761 Genomic DNA No translation available.
AL121747 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10670.1
BC014983 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13002.1 [Q96BZ9-1]

NCBI Reference Sequences

More...RefSeqi		NP_653229.1, NM_144628.3 [Q96BZ9-1]
XP_005260718.1, XM_005260661.1 [Q96BZ9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000354200; ENSP00000346139; ENSG00000125875 [Q96BZ9-1]
ENST00000461304; ENSP00000432280; ENSG00000125875 [Q96BZ9-1]
ENST00000679741; ENSP00000504904; ENSG00000125875 [Q96BZ9-1]
ENST00000679944; ENSP00000506278; ENSG00000125875 [Q96BZ9-1]
ENST00000680106; ENSP00000505500; ENSG00000125875 [Q96BZ9-1]
ENST00000680284; ENSP00000506231; ENSG00000125875 [Q96BZ9-1]
ENST00000680792; ENSP00000506012; ENSG00000125875 [Q96BZ9-1]
ENST00000681539; ENSP00000505557; ENSG00000125875 [Q96BZ9-1]
ENST00000681636; ENSP00000506155; ENSG00000125875 [Q96BZ9-1]
ENST00000681742; ENSP00000506122; ENSG00000125875 [Q96BZ9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		128637

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:128637

UCSC genome browser

More...UCSCi		uc002wds.4, human [Q96BZ9-1]

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
AB449906 mRNA Translation: BAH16649.1
AK055573 mRNA No translation available.
AK127062 mRNA Translation: BAC86808.1
AK291648 mRNA Translation: BAF84337.1
AL049761 Genomic DNA No translation available.
AL121747 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10670.1
BC014983 mRNA No translation available.
CCDSiCCDS13002.1 [Q96BZ9-1]
RefSeqiNP_653229.1, NM_144628.3 [Q96BZ9-1]
XP_005260718.1, XM_005260661.1 [Q96BZ9-1]

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
4HL4X-ray2.20A14-305[»]
4HLQX-ray3.30A/C/E/G/I1-305[»]
SMRiQ96BZ9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi126139, 22 interactors
IntActiQ96BZ9, 9 interactors
MINTiQ96BZ9
STRINGi9606.ENSP00000346139

PTM databases

iPTMnetiQ96BZ9
MetOSiteiQ96BZ9
PhosphoSitePlusiQ96BZ9

Genetic variation databases

BioMutaiTBC1D20
DMDMi34395569

Proteomic databases

EPDiQ96BZ9
jPOSTiQ96BZ9
MassIVEiQ96BZ9
MaxQBiQ96BZ9
PaxDbiQ96BZ9
PeptideAtlasiQ96BZ9
PRIDEiQ96BZ9
ProteomicsDBi76134 [Q96BZ9-1]
76135 [Q96BZ9-2]
76136 [Q96BZ9-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22961, 103 antibodies

The DNASU plasmid repository

More...DNASUi		128637

Genome annotation databases

EnsembliENST00000354200; ENSP00000346139; ENSG00000125875 [Q96BZ9-1]
ENST00000461304; ENSP00000432280; ENSG00000125875 [Q96BZ9-1]
ENST00000679741; ENSP00000504904; ENSG00000125875 [Q96BZ9-1]
ENST00000679944; ENSP00000506278; ENSG00000125875 [Q96BZ9-1]
ENST00000680106; ENSP00000505500; ENSG00000125875 [Q96BZ9-1]
ENST00000680284; ENSP00000506231; ENSG00000125875 [Q96BZ9-1]
ENST00000680792; ENSP00000506012; ENSG00000125875 [Q96BZ9-1]
ENST00000681539; ENSP00000505557; ENSG00000125875 [Q96BZ9-1]
ENST00000681636; ENSP00000506155; ENSG00000125875 [Q96BZ9-1]
ENST00000681742; ENSP00000506122; ENSG00000125875 [Q96BZ9-1]
GeneIDi128637
KEGGihsa:128637
UCSCiuc002wds.4, human [Q96BZ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		128637
DisGeNETi128637

GeneCards: human genes, protein and diseases

More...GeneCardsi		TBC1D20
GeneReviewsiTBC1D20
HGNCiHGNC:16133, TBC1D20
HPAiENSG00000125875, Low tissue specificity
MalaCardsiTBC1D20
MIMi611663, gene
615663, phenotype
neXtProtiNX_Q96BZ9
OpenTargetsiENSG00000125875
Orphaneti2510, Micro syndrome
PharmGKBiPA25683
VEuPathDBiHostDB:ENSG00000125875.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2595, Eukaryota
GeneTreeiENSGT00390000014944
HOGENOMiCLU_039465_1_0_1
InParanoidiQ96BZ9
OMAiMYAHNIE
PhylomeDBiQ96BZ9
TreeFamiTF105942

Enzyme and pathway databases

PathwayCommonsiQ96BZ9
ReactomeiR-HSA-204005, COPII-mediated vesicle transport
R-HSA-8854214, TBC/RABGAPs
SABIO-RKiQ96BZ9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		128637, 52 hits in 1000 CRISPR screens

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

More...ChiTaRSi		TBC1D20, human

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

More...GenomeRNAii		128637
PharosiQ96BZ9, Tbio

Protein Ontology

More...PROi		PR:Q96BZ9
RNActiQ96BZ9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125875, Expressed in tendon and 213 other tissues
GenevisibleiQ96BZ9, HS

Family and domain databases

InterProiView protein in InterPro
IPR000195, Rab-GTPase-TBC_dom
IPR035969, Rab-GTPase_TBC_sf
PfamiView protein in Pfam
PF00566, RabGAP-TBC, 1 hit
SMARTiView protein in SMART
SM00164, TBC, 1 hit
SUPFAMiSSF47923, SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086, TBC_RABGAP, 1 hit

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 nameiTBC20_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: Q96BZ9
Secondary accession number(s): A8K6I3
, B9A6M1, Q5JWQ7, Q6ZSY8, Q96NE1, Q9BYM7, Q9H140
<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: August 29, 2003
Last sequence update: December 1, 2001
Last modified: June 2, 2021
This is version 148 of the entry and version 1 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 chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
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