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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

  • GTPase activator activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

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

Molecular functionGTPase activation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000145979.17

Human Gene Nomenclature Database

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HGNCi
HGNC:21066 TBC1D7

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612655 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9P0N9

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

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

Keywords - Cellular componenti

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 mutations 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.
See also OMIM:248000

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

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Orphaneti
268920 Isolated megalencephaly

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134929978

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TBC1D7

Domain mapping of disease mutations (DMDM)

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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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002080311 – 293TBC1 domain family member 7Add BLAST293

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9P0N9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9P0N9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9P0N9

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

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PaxDbi
Q9P0N9

PeptideAtlas

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PeptideAtlasi
Q9P0N9

PRoteomics IDEntifications database

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PRIDEi
Q9P0N9

ProteomicsDB human proteome resource

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ProteomicsDBi
83587
83588 [Q9P0N9-2]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q9P0N9-1 [Q9P0N9-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9P0N9

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

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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

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Bgeei
ENSG00000145979 Expressed in 183 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

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CleanExi
HS_TBC1D7

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9P0N9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9P0N9 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA034748

<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%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119412, 33 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9P0N9

Protein interaction database and analysis system

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IntActi
Q9P0N9, 29 interactors

Molecular INTeraction database

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MINTi
Q9P0N9

STRING: functional protein association networks

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STRINGi
9606.ENSP00000348813

<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

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9P0N9

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

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SMRi
Q9P0N9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini50 – 231Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST182

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHB4 Eukaryota
ENOG410YME8 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000009122

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007897

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG055235

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9P0N9

KEGG Orthology (KO)

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KOi
K20396

Identification of Orthologs from Complete Genome Data

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OMAi
ISGSCKI

Database of Orthologous Groups

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OrthoDBi
1440539at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9P0N9

TreeFam database of animal gene trees

More...
TreeFami
TF323655

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR039842 TBC1D7

The PANTHER Classification System

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PANTHERi
PTHR13530 PTHR13530, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00566 RabGAP-TBC, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47923 SSF47923, 2 hits

PROSITE; a protein domain and family database

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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>.<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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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>
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>
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>
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>
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>
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>
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>
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>
B4DK47B4DK47_HUMAN
cDNA FLJ60615, highly similar to TB...
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:rs543580Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.484678

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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

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GeneIDi
107080638
51256

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:107080638
hsa:51256

UCSC genome browser

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UCSCi
uc003nal.5 human [Q9P0N9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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]
UniGeneiHs.484678

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliQ9P0N9
SMRiQ9P0N9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119412, 33 interactors
CORUMiQ9P0N9
IntActiQ9P0N9, 29 interactors
MINTiQ9P0N9
STRINGi9606.ENSP00000348813

PTM databases

iPTMnetiQ9P0N9
PhosphoSitePlusiQ9P0N9

Polymorphism and mutation databases

BioMutaiTBC1D7
DMDMi37538019

Proteomic databases

EPDiQ9P0N9
jPOSTiQ9P0N9
MaxQBiQ9P0N9
PaxDbiQ9P0N9
PeptideAtlasiQ9P0N9
PRIDEiQ9P0N9
ProteomicsDBi83587
83588 [Q9P0N9-2]
TopDownProteomicsiQ9P0N9-1 [Q9P0N9-1]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
51256
Structural Biology KnowledgebaseSearch...

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

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CTDi
107080638
51256
DisGeNETi107080638
51256
EuPathDBiHostDB:ENSG00000145979.17

GeneCards: human genes, protein and diseases

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GeneCardsi
TBC1D7
HGNCiHGNC:21066 TBC1D7
HPAiHPA034748
MalaCardsiTBC1D7
MIMi248000 phenotype
612655 gene
neXtProtiNX_Q9P0N9
OpenTargetsiENSG00000145979
Orphaneti268920 Isolated megalencephaly
PharmGKBiPA134929978

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHB4 Eukaryota
ENOG410YME8 LUCA
GeneTreeiENSGT00390000009122
HOGENOMiHOG000007897
HOVERGENiHBG055235
InParanoidiQ9P0N9
KOiK20396
OMAiISGSCKI
OrthoDBi1440539at2759
PhylomeDBiQ9P0N9
TreeFamiTF323655

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Miscellaneous databases

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

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ChiTaRSi
TBC1D7 human

Protein Ontology

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PROi
PR:Q9P0N9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145979 Expressed in 183 organ(s), highest expression level in testis
CleanExiHS_TBC1D7
ExpressionAtlasiQ9P0N9 baseline and differential
GenevisibleiQ9P0N9 HS

Family and domain databases

InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR039842 TBC1D7
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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: January 16, 2019
This is version 147 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, Complete proteome, 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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