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UniProtKB - Q9P0N9 (TBCD7_HUMAN)

Entry version 164 (29 Sep 2021)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

TBC1 domain family member 7

Gene

TBC1D7

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

Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question.

1 Publication

Caution

Was initially identified as a negative regulator of the TSC1-TSC2 complex (PubMed:17658474). However, it was later shown that TBC1D7 is part of the TSC-TBC complex and participates in GTPase-activating protein activity, leading to inhibition of the TOR signaling cascade (PubMed:22795129). The differences between 2 reports might be explained by experimental conditions in the initial report, in which they overexpressed the TBC1D7 subunit, possibly leading to disrupt the stoichiometric complex and its downstream functions.2 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 - 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9P0N9

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 7
Alternative name(s):
Cell migration-inducing protein 23
<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:TBC1D7
Synonyms:TBC7
ORF Names:HSPC239
<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 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_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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21066, TBC1D7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612655, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P0N9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000145979

<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

Keywords - Cellular componenti

Cytoplasmic vesicle

<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

Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormal enlargement of the cerebral hemispheres, mental retardation, large head, optic atrophy and underdeveloped skeletal musculature. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Additional clinical features include behavioral abnormalities, psychosis, learning difficulties, prognathism, myopia and astigmatism.
Related information in OMIM

Organism-specific databases

DisGeNET

More...DisGeNETi		107080638
51256

MalaCards human disease database

More...MalaCardsi		TBC1D7
MIMi248000, phenotype

Open Targets

More...OpenTargetsi		ENSG00000145979

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

More...Orphaneti		268920, Isolated megalencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134929978

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P0N9, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TBC1D7

Domain mapping of disease mutations (DMDM)

More...DMDMi		37538019

<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_00002080311 – 293TBC1 domain family member 7Add BLAST293

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P0N9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P0N9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P0N9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9P0N9

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

More...PaxDbi		Q9P0N9

PeptideAtlas

More...PeptideAtlasi		Q9P0N9

PRoteomics IDEntifications database

More...PRIDEi		Q9P0N9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61499
77329
83587 [Q9P0N9-1]
83588 [Q9P0N9-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9P0N9-1 [Q9P0N9-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P0N9

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

More...PhosphoSitePlusi		Q9P0N9

<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

Highly expressed in heart, and slightly in kidney, liver and placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000145979, Expressed in cortical plate and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9P0N9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9P0N9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000145979, 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_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

Component of the TSC-TBC complex (also named Rhebulator complex), composed of the TSC1-TSC2 heterodimer and TBC1D7.

Interacts with TSC1 (via C-terminal half of the coiled-coil domain).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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		119412, 54 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6142, TSC1-TSC2 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9P0N9

Protein interaction database and analysis system

More...IntActi		Q9P0N9, 33 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000475727

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P0N9, 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

1293
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		Q9P0N9

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_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>Domaini50 – 231Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST182

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QPZD, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009122

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_082520_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P0N9

Identification of Orthologs from Complete Genome Data

More...OMAi		VMHTMWL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9P0N9

TreeFam database of animal gene trees

More...TreeFami		TF323655

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.8.680, 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
IPR039842, TBC1D7
IPR043039, TBC1D7_dom2

The PANTHER Classification System

More...PANTHERi		PTHR13530, PTHR13530, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00566, RabGAP-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_length">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 (4+)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 4 <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 4 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P0N9-1) [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
MTEDSQRNFR SVYYEKVGFR GVEEKKSLEI LLKDDRLDTE KLCTFSQRFP 
        60         70         80         90        100
LPSMYRALVW KVLLGILPPH HESHAKVMMY RKEQYLDVLH ALKVVRFVSD 
       110        120        130        140        150
ATPQAEVYLR MYQLESGKLP RSPSFPLEPD DEVFLAIAKA MEEMVEDSVD 
       160        170        180        190        200
CYWITRRFVN QLNTKYRDSL PQLPKAFEQY LNLEDGRLLT HLRMCSAAPK 
       210        220        230        240        250
LPYDLWFKRC FAGCLPESSL QRVWDKVVSG SCKILVFVAV EILLTFKIKV 
       260        270        280        290 
MALNSAEKIT KFLENIPQDS SDAIVSKAID LWHKHCGTPV HSS
Length:293
Mass (Da):33,972
Last modified:October 1, 2000 - 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:iC2F35E10F10D00C2
GO
Isoform 2 (identifier: Q9P0N9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     38-64: Missing.

Show »
Length:266
Mass (Da):30,747
Checksum:i7F95E3AE0127D94B
GO
Isoform 3 (identifier: Q9P0N9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-73: MTEDSQRNFR...LGILPPHHES → MEGASRNLASTPRV

Show »
Length:234
Mass (Da):26,787
Checksum:i0127CB9837D50624
GO
Isoform 4 (identifier: Q9P0N9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-172: Missing.

Show »
Length:247
Mass (Da):28,509
Checksum:iCDFF69668B48D871
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 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5SZL4Q5SZL4_HUMAN
TBC1 domain family member 7
TBC1D7
249Annotation 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>
Q5SZL6Q5SZL6_HUMAN
TBC1 domain family member 7
TBC1D7
238Annotation 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>
U3KPY5U3KPY5_HUMAN
TBC1 domain family member 7
TBC1D7
164Annotation 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>
Q5SZL8Q5SZL8_HUMAN
TBC1 domain family member 7
TBC1D7
130Annotation 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>
Q5SZL3Q5SZL3_HUMAN
TBC1 domain family member 7
TBC1D7
194Annotation 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>
Q5SZL5Q5SZL5_HUMAN
TBC1 domain family member 7
TBC1D7
207Annotation 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>
Q5SZM1Q5SZM1_HUMAN
TBC1 domain family member 7
TBC1D7
156Annotation 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>
Q5SZM2Q5SZM2_HUMAN
TBC1 domain family member 7
TBC1D7
136Annotation 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>
B4DK47B4DK47_HUMAN
TBC1 domain family member 7
TBC1D7
179Annotation 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>
U3KQD8U3KQD8_HUMAN
TBC1 domain family member 7
TBC1D7
152Annotation 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>
There are more potential isoformsShow all

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 conflicti59V → I in BAD97165 (Ref. 6) 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_05253767L → W. Corresponds to variant dbSNP:rs543580EnsemblClinVar.1
Natural variantiVAR_052538136A → T. Corresponds to variant dbSNP:rs9381921EnsemblClinVar.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_0441861 – 73MTEDS…PHHES → MEGASRNLASTPRV in isoform 3. 1 PublicationAdd BLAST73
Alternative sequenceiVSP_04148038 – 64Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_044892127 – 172Missing in isoform 4. 1 PublicationAdd BLAST46

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
AB449888 mRNA Translation: BAH16631.1
AY826820 mRNA Translation: AAX18640.1
AK057228 mRNA Translation: BAB71389.1
AF151073 mRNA Translation: AAF36159.1
AY542308 mRNA Translation: AAT08177.1
AK223445 mRNA Translation: BAD97165.1
AL008729 Genomic DNA No translation available.
AL589984 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55325.1
CH471087 Genomic DNA Translation: EAW55323.1
BC050465 mRNA Translation: AAH50465.1
BC007054 mRNA Translation: AAH07054.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4523.1 [Q9P0N9-1]
CCDS47376.1 [Q9P0N9-2]
CCDS58995.1 [Q9P0N9-4]

NCBI Reference Sequences

More...RefSeqi		NP_001137436.1, NM_001143964.3 [Q9P0N9-1]
NP_001137437.1, NM_001143965.3 [Q9P0N9-1]
NP_001137438.1, NM_001143966.3 [Q9P0N9-2]
NP_001245386.1, NM_001258457.2 [Q9P0N9-4]
NP_001305734.1, NM_001318805.1 [Q9P0N9-1]
NP_001305738.1, NM_001318809.1 [Q9P0N9-1]
NP_057579.1, NM_016495.5 [Q9P0N9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000343141; ENSP00000343100; ENSG00000145979 [Q9P0N9-4]
ENST00000356436; ENSP00000348813; ENSG00000145979 [Q9P0N9-1]
ENST00000379300; ENSP00000368602; ENSG00000145979 [Q9P0N9-1]
ENST00000379307; ENSP00000368609; ENSG00000145979 [Q9P0N9-2]
ENST00000606214; ENSP00000475727; ENSG00000145979 [Q9P0N9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		107080638
51256

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:107080638
hsa:51256

UCSC genome browser

More...UCSCi		uc003nal.5, human [Q9P0N9-1]

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
AB449888 mRNA Translation: BAH16631.1
AY826820 mRNA Translation: AAX18640.1
AK057228 mRNA Translation: BAB71389.1
AF151073 mRNA Translation: AAF36159.1
AY542308 mRNA Translation: AAT08177.1
AK223445 mRNA Translation: BAD97165.1
AL008729 Genomic DNA No translation available.
AL589984 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55325.1
CH471087 Genomic DNA Translation: EAW55323.1
BC050465 mRNA Translation: AAH50465.1
BC007054 mRNA Translation: AAH07054.1
CCDSiCCDS4523.1 [Q9P0N9-1]
CCDS47376.1 [Q9P0N9-2]
CCDS58995.1 [Q9P0N9-4]
RefSeqiNP_001137436.1, NM_001143964.3 [Q9P0N9-1]
NP_001137437.1, NM_001143965.3 [Q9P0N9-1]
NP_001137438.1, NM_001143966.3 [Q9P0N9-2]
NP_001245386.1, NM_001258457.2 [Q9P0N9-4]
NP_001305734.1, NM_001318805.1 [Q9P0N9-1]
NP_001305738.1, NM_001318809.1 [Q9P0N9-1]
NP_057579.1, NM_016495.5 [Q9P0N9-1]

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
3QWLX-ray1.90A1-293[»]
4Z6YX-ray2.81A/B/E/G21-293[»]
5EJCX-ray3.10A/B18-293[»]
5ULOX-ray2.14C/D115-126[»]
7DL2electron microscopy4.40E21-287[»]
SMRiQ9P0N9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119412, 54 interactors
ComplexPortaliCPX-6142, TSC1-TSC2 complex
CORUMiQ9P0N9
IntActiQ9P0N9, 33 interactors
STRINGi9606.ENSP00000475727

PTM databases

iPTMnetiQ9P0N9
PhosphoSitePlusiQ9P0N9

Genetic variation databases

BioMutaiTBC1D7
DMDMi37538019

Proteomic databases

EPDiQ9P0N9
jPOSTiQ9P0N9
MassIVEiQ9P0N9
MaxQBiQ9P0N9
PaxDbiQ9P0N9
PeptideAtlasiQ9P0N9
PRIDEiQ9P0N9
ProteomicsDBi61499
77329
83587 [Q9P0N9-1]
83588 [Q9P0N9-2]
TopDownProteomicsiQ9P0N9-1 [Q9P0N9-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24944, 103 antibodies

The DNASU plasmid repository

More...DNASUi		51256

Genome annotation databases

EnsembliENST00000343141; ENSP00000343100; ENSG00000145979 [Q9P0N9-4]
ENST00000356436; ENSP00000348813; ENSG00000145979 [Q9P0N9-1]
ENST00000379300; ENSP00000368602; ENSG00000145979 [Q9P0N9-1]
ENST00000379307; ENSP00000368609; ENSG00000145979 [Q9P0N9-2]
ENST00000606214; ENSP00000475727; ENSG00000145979 [Q9P0N9-1]
GeneIDi107080638
51256
KEGGihsa:107080638
hsa:51256
UCSCiuc003nal.5, human [Q9P0N9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		107080638
51256
DisGeNETi107080638
51256

GeneCards: human genes, protein and diseases

More...GeneCardsi		TBC1D7
TBC1D7-LOC100130357
HGNCiHGNC:21066, TBC1D7
HPAiENSG00000145979, Low tissue specificity
MalaCardsiTBC1D7
MIMi248000, phenotype
612655, gene
neXtProtiNX_Q9P0N9
OpenTargetsiENSG00000145979
Orphaneti268920, Isolated megalencephaly
PharmGKBiPA134929978
VEuPathDBiHostDB:ENSG00000145979

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QPZD, Eukaryota
GeneTreeiENSGT00390000009122
HOGENOMiCLU_082520_0_0_1
InParanoidiQ9P0N9
OMAiVMHTMWL
PhylomeDBiQ9P0N9
TreeFamiTF323655

Enzyme and pathway databases

PathwayCommonsiQ9P0N9
ReactomeiR-HSA-8854214, TBC/RABGAPs

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		107080638, 0 hits in 3 CRISPR screens
51256, 14 hits in 1028 CRISPR screens
PharosiQ9P0N9, Tbio

Protein Ontology

More...PROi		PR:Q9P0N9
RNActiQ9P0N9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000145979, Expressed in cortical plate and 201 other tissues
ExpressionAtlasiQ9P0N9, baseline and differential
GenevisibleiQ9P0N9, HS

Family and domain databases

Gene3Di1.10.8.680, 1 hit
InterProiView protein in InterPro
IPR000195, Rab-GTPase-TBC_dom
IPR035969, Rab-GTPase_TBC_sf
IPR039842, TBC1D7
IPR043039, TBC1D7_dom2
PANTHERiPTHR13530, PTHR13530, 1 hit
PfamiView protein in Pfam
PF00566, RabGAP-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 nameiTBCD7_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: Q9P0N9
Secondary accession number(s): E7EV96
, Q2TU37, Q53F44, Q5SZL7, Q86VM8, Q96MB8
<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: October 3, 2003
Last sequence update: October 1, 2000
Last modified: September 29, 2021
This is version 164 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 6
    Human chromosome 6: 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
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