SOX9_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: SOX9_HUMAN
• UniProt AC: P48436
• Protein Name: Transcription factor SOX-9 {ECO:0000305}
• Gene Name: SOX9 {ECO:0000312|HGNC:HGNC:11204}
• Organism: Homo sapiens (Human).
• Sequence Length: 509
• Subcellular Localization: Nucleus .
• Protein Description: Transcriptional regulator. [PubMed: 24038782 Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with ZNF219 (By similarity Plays a role in chondrocyte differentiation (By similarity Important for normal skeletal development]
• Protein Sequence: MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPGEHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPPNGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQQPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSSYYSHAAGQGTGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTRP

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
11	Phosphorylation	LDPFMKMTDEQEKGL CHHHHCCCHHHHHCC	30.76	22210691
19	Phosphorylation	DEQEKGLSGAPSPTM HHHHHCCCCCCCCCC	41.39	22210691
23	Phosphorylation	KGLSGAPSPTMSEDS HCCCCCCCCCCCCCC	32.25	28985074
25	Phosphorylation	LSGAPSPTMSEDSAG CCCCCCCCCCCCCCC	37.35	22210691
27	Phosphorylation	GAPSPTMSEDSAGSP CCCCCCCCCCCCCCC	40.50	23090842
30	Phosphorylation	SPTMSEDSAGSPCPS CCCCCCCCCCCCCCC	30.40	27050516
33	Phosphorylation	MSEDSAGSPCPSGSG CCCCCCCCCCCCCCC	24.05	27050516
37	Phosphorylation	SAGSPCPSGSGSDTE CCCCCCCCCCCCCCC	52.92	23090842
39	Phosphorylation	GSPCPSGSGSDTENT CCCCCCCCCCCCCCC	39.19	23090842
41	Phosphorylation	PCPSGSGSDTENTRP CCCCCCCCCCCCCCC	42.95	23090842
43	Phosphorylation	PSGSGSDTENTRPQE CCCCCCCCCCCCCCC	32.60	23090842
46	Phosphorylation	SGSDTENTRPQENTF CCCCCCCCCCCCCCC	37.18	23090842
52	Phosphorylation	NTRPQENTFPKGEPD CCCCCCCCCCCCCCC	40.33	23090842
61	Acetylation	PKGEPDLKKESEEDK CCCCCCCCCCCCCCC	62.97	20167786
62	Ubiquitination	KGEPDLKKESEEDKF CCCCCCCCCCCCCCC	74.00	23000965
64	Phosphorylation	EPDLKKESEEDKFPV CCCCCCCCCCCCCCH	55.98	10805756
68	Ubiquitination	KKESEEDKFPVCIRE CCCCCCCCCCHHHHH	55.64	23000965
78	Phosphorylation	VCIREAVSQVLKGYD HHHHHHHHHHHCCCC	22.94	23312004
82	Ubiquitination	EAVSQVLKGYDWTLV HHHHHHHCCCCCEEE	57.47	21906983
102	Ubiquitination	VNGSSKNKPHVKRPM ECCCCCCCCCCCCCH	39.99	30230243
122	Ubiquitination	WAQAARRKLADQYPH HHHHHHHHHHHHCCC	42.34	23000965
136	Phosphorylation	HLHNAELSKTLGKLW CCCHHHHHHHHHHHH	18.33	22468782
137	Ubiquitination	LHNAELSKTLGKLWR CCHHHHHHHHHHHHH	61.46	23000965
141	Ubiquitination	ELSKTLGKLWRLLNE HHHHHHHHHHHHHCC	48.25	21890473
141	Acetylation	ELSKTLGKLWRLLNE HHHHHHHHHHHHHCC	48.25	22424773
141	Ubiquitination	ELSKTLGKLWRLLNE HHHHHHHHHHHHHCC	48.25	23000965
149	Phosphorylation	LWRLLNESEKRPFVE HHHHHCCCCCCCCHH	47.55	22468782
167	Ubiquitination	RLRVQHKKDHPDYKY HHHHHHCCCCCCCCC	60.18	23000965
172	Phosphorylation	HKKDHPDYKYQPRRR HCCCCCCCCCCCCCC	18.95	-
173	Ubiquitination	KKDHPDYKYQPRRRK CCCCCCCCCCCCCCH	44.80	23000965
181	Phosphorylation	YQPRRRKSVKNGQAE CCCCCCHHCCCCCHH	36.19	10805756
193	Phosphorylation	QAEAEEATEQTHISP CHHHHHHHHHCCCCH	31.72	22199227
196	Phosphorylation	AEEATEQTHISPNAI HHHHHHHCCCCHHHH	18.23	22199227
199	Phosphorylation	ATEQTHISPNAIFKA HHHHCCCCHHHHHHH	12.42	22617229
211	Phosphorylation	FKALQADSPHSSSGM HHHHHCCCCCCCCCC	27.77	10805756
214	Phosphorylation	LQADSPHSSSGMSEV HHCCCCCCCCCCCCC	29.59	23312004
215	Phosphorylation	QADSPHSSSGMSEVH HCCCCCCCCCCCCCC	28.07	23312004
216	Phosphorylation	ADSPHSSSGMSEVHS CCCCCCCCCCCCCCC	41.34	23312004
219	Phosphorylation	PHSSSGMSEVHSPGE CCCCCCCCCCCCCCC	39.74	29116813
223	Phosphorylation	SGMSEVHSPGEHSGQ CCCCCCCCCCCCCCC	39.51	28188228
228	Phosphorylation	VHSPGEHSGQSQGPP CCCCCCCCCCCCCCC	33.94	29116813
231	Phosphorylation	PGEHSGQSQGPPTPP CCCCCCCCCCCCCCC	40.40	29116813
236	Phosphorylation	GQSQGPPTPPTTPKT CCCCCCCCCCCCCCC	45.06	24888630
239	Phosphorylation	QGPPTPPTTPKTDVQ CCCCCCCCCCCCCCC	57.86	28188228
240	Phosphorylation	GPPTPPTTPKTDVQP CCCCCCCCCCCCCCC	28.67	29116813
243	Phosphorylation	TPPTTPKTDVQPGKA CCCCCCCCCCCCCCC	42.48	29449344
249	Ubiquitination	KTDVQPGKADLKREG CCCCCCCCCCCCCCC	45.47	22817900
253	Ubiquitination	QPGKADLKREGRPLP CCCCCCCCCCCCCCC	49.29	22817900
253	Acetylation	QPGKADLKREGRPLP CCCCCCCCCCCCCCC	49.29	20167786
398	Acetylation	QSQRTHIKTEQLSPS CCCCCEEEEECCCHH	38.10	20167786
398	Sumoylation	QSQRTHIKTEQLSPS CCCCCEEEEECCCHH	38.10	-
414	Phosphorylation	YSEQQQHSPQQIAYS CCHHHCCCCCCCCCC	21.77	-
442	Phosphorylation	ITRSQYDYTDHQNSS CCCCCCCCCCCCCCC	14.77	-
488	Phosphorylation	ADTSGVPSIPQTHSP CCCCCCCCCCCCCCC	44.48	27251275
492	Phosphorylation	GVPSIPQTHSPQHWE CCCCCCCCCCCCCCC	20.97	28348404
494	Phosphorylation	PSIPQTHSPQHWEQP CCCCCCCCCCCCCCC	29.64	26422651

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
64	S	Phosphorylation	Kinase	PRKACA	P17612	GPS
64	S	Phosphorylation	Kinase	PKA-FAMILY	-	GPS
64	S	Phosphorylation	Kinase	PKA_GROUP	-	PhosphoELM
181	S	Phosphorylation	Kinase	ADCK5	Q3MIX3	PSP
181	S	Phosphorylation	Kinase	PRKACA	P17612	GPS
181	S	Phosphorylation	Kinase	ROCK1	Q13464	PSP
181	S	Phosphorylation	Kinase	PKA-FAMILY	-	GPS
181	S	Phosphorylation	Kinase	PKA_GROUP	-	PhosphoELM
211	S	Phosphorylation	Kinase	MAPK14	Q16539	GPS
236	T	Phosphorylation	Kinase	GSK3B	P49841	PSP
-	K	Ubiquitination	E3 ubiquitin ligase	HERC1	Q15751	PMID:24155239
-	K	Ubiquitination	E3 ubiquitin ligase	FBXW7	Q969H0	PMID:27566146

Functions of PTM Sites

Modified Location	Modified Residue	Modification	Function	Reference
64	S	Phosphorylation	Phosphorylation at Ser-64 and Ser-211 by PKA increases transcriptional activity and may help delay chondrocyte maturation downstream of PTHLH/PTHrP signaling.	-
64	S	Phosphorylation	Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation.	-
64	S	Phosphorylation	Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation.	-
64	S	Sumoylation	Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation.	-
64	S	Sumoylation	Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation.	-
211	S	Phosphorylation	Phosphorylation at Ser-64 and Ser-211 by PKA increases transcriptional activity and may help delay chondrocyte maturation downstream of PTHLH/PTHrP signaling.	-
211	S	Phosphorylation	Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation.	-
211	S	Phosphorylation	Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation.	-
211	S	Sumoylation	Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation.	-
211	S	Sumoylation	Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation.	-

Disease-associated PTM Sites based on SAP

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

Oops, there are no SNP-PTM records of SOX9_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
STF1_HUMAN	NR5A1	physical	9774680
MAF_HUMAN	MAF	physical	12381733
MED12_HUMAN	MED12	physical	12136106
EP300_HUMAN	EP300	physical	19828133
SCX_HUMAN	SCX	physical	19828133
CR3L4_HUMAN	CREB3L4	physical	12732631
SOX9_HUMAN	SOX9	physical	17277314
HERC1_HUMAN	HERC1	physical	24155239
ZBT7A_HUMAN	ZBTB7A	physical	23727861
FBW1A_HUMAN	BTRC	physical	25632159
FBXW7_HUMAN	FBXW7	physical	27566146

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 114290: Campomelic dysplasia (CMD1)
• 278850: 46,XX sex reversal 2 (SRXX2)
• 616425: 46,XY sex reversal 10 (SRXY10)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.