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UniProtKB - Q9P0N9 (TBCD7_HUMAN)

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Protein

TBC1 domain family member 7

Gene

TBC1D7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • activation of GTPase activity Source: UniProtKB
  • negative regulation of cilium assembly Source: UniProtKB
  • negative regulation of TOR signaling Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • positive regulation of protein ubiquitination Source: UniProtKB
  • response to growth factor Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

ReactomeiR-HSA-8854214 TBC/RABGAPs

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 7
Alternative name(s):
Cell migration-inducing protein 23
Gene namesi
Name:TBC1D7
Synonyms:TBC7
ORF Names:HSPC239
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000145979.17
HGNCiHGNC:21066 TBC1D7
MIMi612655 gene
neXtProtiNX_Q9P0N9

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

Pathology & Biotechi

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

DisGeNETi107080638
51256
MalaCardsiTBC1D7
MIMi248000 phenotype
OpenTargetsiENSG00000145979
Orphaneti268920 Isolated megalencephaly
PharmGKBiPA134929978

Polymorphism and mutation databases

BioMutaiTBC1D7
DMDMi37538019

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002080311 – 293TBC1 domain family member 7Add BLAST293

Proteomic databases

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

PTM databases

iPTMnetiQ9P0N9
PhosphoSitePlusiQ9P0N9

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000145979
CleanExiHS_TBC1D7
ExpressionAtlasiQ9P0N9 baseline and differential
GenevisibleiQ9P0N9 HS

Organism-specific databases

HPAiHPA034748

Interactioni

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

Binary interactionsi

Show more details

GO - Molecular functioni

  • Rab GTPase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

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

Structurei

Secondary structure

1293
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi22 – 31Combined sources10
Beta strandi34 – 36Combined sources3
Helixi39 – 48Combined sources10
Helixi53 – 63Combined sources11
Helixi71 – 73Combined sources3
Helixi74 – 94Combined sources21
Helixi104 – 116Combined sources13
Beta strandi121 – 125Combined sources5
Helixi129 – 144Combined sources16
Helixi148 – 163Combined sources16
Turni164 – 169Combined sources6
Helixi170 – 172Combined sources3
Helixi173 – 184Combined sources12
Helixi186 – 194Combined sources9
Helixi198 – 200Combined sources3
Helixi203 – 207Combined sources5
Turni210 – 214Combined sources5
Helixi217 – 228Combined sources12
Helixi234 – 245Combined sources12
Helixi247 – 252Combined sources6
Helixi256 – 263Combined sources8
Helixi271 – 286Combined sources16

3D structure databases

ProteinModelPortaliQ9P0N9
SMRiQ9P0N9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini50 – 231Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST182

Phylogenomic databases

eggNOGiENOG410IHB4 Eukaryota
ENOG410YME8 LUCA
GeneTreeiENSGT00390000009122
HOGENOMiHOG000007897
HOVERGENiHBG055235
InParanoidiQ9P0N9
KOiK20396
OMAiLQRVWDK
OrthoDBiEOG091G0I5H
PhylomeDBiQ9P0N9
TreeFamiTF323655

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
SUPFAMiSSF47923 SSF47923, 2 hits
PROSITEiView protein in PROSITE
PS50086 TBC_RABGAP, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti59V → I in BAD97165 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTBCD7_HUMAN
AccessioniPrimary (citable) accession number: Q9P0N9
Secondary accession number(s): E7EV96
, Q2TU37, Q53F44, Q5SZL7, Q86VM8, Q96MB8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2003
Last sequence update: October 1, 2000
Last modified: July 18, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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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