TBCD7_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: TBCD7_HUMAN
• UniProt AC: Q9P0N9
• Protein Name: TBC1 domain family member 7
• Gene Name: TBC1D7
• Organism: Homo sapiens (Human).
• Sequence Length: 293
• Subcellular Localization: Cytoplasmic vesicle . Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.
• Protein Description: 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..
• Protein Sequence: MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVWKVLLGILPPHHESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLPRSPSFPLEPDDEVFLAIAKAMEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQYLNLEDGRLLTHLRMCSAAPKLPYDLWFKRCFAGCLPESSLQRVWDKVVSGSCKILVFVAVEILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAIDLWHKHCGTPVHSS

Overview of Protein Modification Sites with Functional and Structural Information

Experimental Post-Translational Modification Sites

* ASA = Accessible Surface Area

Locations	Modification	Substrate Peptides & Secondary Structure	ASA (%)	Reference
5 (in isoform 3)	Phosphorylation	-	25.47	26425664
10 (in isoform 3)	Phosphorylation	-	28.85	26425664
11 (in isoform 3)	Phosphorylation	-	15.44	30177828
11	Phosphorylation	DSQRNFRSVYYEKVG HHHHHHHHHHHHCCC	15.44	29743597
13	Phosphorylation	QRNFRSVYYEKVGFR HHHHHHHHHHCCCCC	13.73	29743597
14	Phosphorylation	RNFRSVYYEKVGFRG HHHHHHHHHCCCCCC	13.71	29743597
16	Ubiquitination	FRSVYYEKVGFRGVE HHHHHHHCCCCCCCC	31.38	-
27	Phosphorylation	RGVEEKKSLEILLKD CCCCHHHHHEEEECC	42.15	30622161
33	Ubiquitination	KSLEILLKDDRLDTE HHHEEEECCCCCCHH	54.88	-
39	Phosphorylation	LKDDRLDTEKLCTFS ECCCCCCHHHHCCHH	39.34	22617229
41	Ubiquitination	DDRLDTEKLCTFSQR CCCCCHHHHCCHHHH	51.45	-
46	Phosphorylation	TEKLCTFSQRFPLPS HHHHCCHHHHCCCHH	11.42	22617229
73	Phosphorylation	ILPPHHESHAKVMMY CCCCCCHHHHHHHCC	25.12	27174698
80	Phosphorylation	SHAKVMMYRKEQYLD HHHHHHCCCHHHHHH	10.63	27174698
82	Ubiquitination	AKVMMYRKEQYLDVL HHHHCCCHHHHHHHH	31.51	-
93	Ubiquitination	LDVLHALKVVRFVSD HHHHHHHCHHHHHCC	39.19	-
118	Ubiquitination	MYQLESGKLPRSPSF HHHCCCCCCCCCCCC	65.68	21906983
122	Phosphorylation	ESGKLPRSPSFPLEP CCCCCCCCCCCCCCC	23.98	-
124	Phosphorylation	GKLPRSPSFPLEPDD CCCCCCCCCCCCCCH	40.52	-
149	Ubiquitination	EEMVEDSVDCYWITR HHHHHHHCCHHHHHH	10.23	21890473
162	Ubiquitination	TRRFVNQLNTKYRDS HHHHHHHHCHHCHHC	8.08	21890473
165	Ubiquitination	FVNQLNTKYRDSLPQ HHHHHCHHCHHCCCC	36.90	-
175	Ubiquitination	DSLPQLPKAFEQYLN HCCCCHHHHHHHHHC	74.44	-
181	Ubiquitination	PKAFEQYLNLEDGRL HHHHHHHHCCCCCCH	6.19	21890473
200	Ubiquitination	RMCSAAPKLPYDLWF HHHCCCCCCCHHHHH	58.32	-
208	Ubiquitination	LPYDLWFKRCFAGCL CCHHHHHHHHHCCCC	36.35	21890473
208	Ubiquitination	LPYDLWFKRCFAGCL CCHHHHHHHHHCCCC	36.35	21890473
208	Ubiquitination	LPYDLWFKRCFAGCL CCHHHHHHHHHCCCC	36.35	21890473
261	Ubiquitination	NSAEKITKFLENIPQ CCHHHHHHHHHCCCC	51.96	-
277	Ubiquitination	SSDAIVSKAIDLWHK CCHHHHHHHHHHHHH	38.17	21890473
284	Ubiquitination	KAIDLWHKHCGTPVH HHHHHHHHHCCCCCC	29.07	-

Upstream regulatory proteins (kinases for phosphorylation sites, E3 ubiquitin ligases of ubiquitination sites, ...)

Modified Location	Modified Residue	Modification	Type of Upstream Proteins	Gene Name of Upstream Proteins	UniProt AC of Upstream Proteins	Sources
124	S	Phosphorylation	Kinase	AKT1	P31749	PSP

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of TBCD7_HUMAN !!

Disease-associated PTM Sites based on SAP

* Distance = the distance between SAP position and PTM sites.

Oops, there are no SNP-PTM records of TBCD7_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
TSC1_HUMAN	TSC1	physical	17658474
TSC2_HUMAN	TSC2	physical	17658474
A4_HUMAN	APP	physical	21832049
HOOK1_HUMAN	HOOK1	physical	25416956
RPGR1_HUMAN	RPGRIP1	physical	25416956
LZTS2_HUMAN	LZTS2	physical	25416956
TSC1_HUMAN	TSC1	physical	26186194
TSC2_HUMAN	TSC2	physical	26186194
KIF27_HUMAN	KIF27	physical	26186194
TSC1_HUMAN	TSC1	physical	28514442
KIF27_HUMAN	KIF27	physical	28514442
TSC2_HUMAN	TSC2	physical	28514442
CPVL_HUMAN	CPVL	physical	28561026
DYR1A_HUMAN	DYRK1A	physical	28561026
LTOR1_HUMAN	LAMTOR1	physical	28561026
RRAGA_HUMAN	RRAGA	physical	28561026
RRAGC_HUMAN	RRAGC	physical	28561026
RUVB2_HUMAN	RUVBL2	physical	28561026
TBCD7_HUMAN	TBC1D7	physical	28561026
TSC1_HUMAN	TSC1	physical	28561026
TSC2_HUMAN	TSC2	physical	28561026
RMP_HUMAN	URI1	physical	28561026
WDR92_HUMAN	WDR92	physical	28561026

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 248000: Macrocephaly/megalencephaly syndrome, autosomal recessive (MGCPH)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.