HPS1_HUMAN - PTM Information in dbPTM

Basic Information of Protein

• UniProt ID: HPS1_HUMAN
• UniProt AC: Q92902
• Protein Name: Hermansky-Pudlak syndrome 1 protein
• Gene Name: HPS1
• Organism: Homo sapiens (Human).
• Sequence Length: 700
• Protein Description: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38. [PubMed: 23084991]
• Protein Sequence: MKCVLVATEGAEVLFYWTDQEFEESLRLKFGQSENEEEELPALEDQLSTLLAPVIISSMTMLEKLSDTYTCFSTENGNFLYVLHLFGECLFIAINGDHTESEGDLRRKLYVLKYLFEVHFGLVTVDGHLIRKELRPPDLAQRVQLWEHFQSLLWTYSRLREQEQCFAVEALERLIHPQLCELCIEALERHVIQAVNTSPERGGEEALHAFLLVHSKLLAFYSSHSASSLRPADLLALILLVQDLYPSESTAEDDIQPSPRRARSSQNIPVQQAWSPHSTGPTGGSSAETETDSFSLPEEYFTPAPSPGDQSSGSTIWLEGGTPPMDALQIAEDTLQTLVPHCPVPSGPRRIFLDANVKESYCPLVPHTMYCLPLWQGINLVLLTRSPSAPLALVLSQLMDGFSMLEKKLKEGPEPGASLRSQPLVGDLRQRMDKFVKNRGAQEIQSTWLEFKAKAFSKSEPGSSWELLQACGKLKRQLCAIYRLNFLTTAPSRGGPHLPQHLQDQVQRLMREKLTDWKDFLLVKSRRNITMVSYLEDFPGLVHFIYVDRTTGQMVAPSLNCSQKTSSELGKGPLAAFVKTKVWSLIQLARRYLQKGYTTLLFQEGDFYCSYFLWFENDMGYKLQMIEVPVLSDDSVPIGMLGGDYYRKLLRYYSKNRPTEAVRCYELLALHLSVIPTDLLVQQAGQLARRLWEASRIPLL

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
386	Phosphorylation	NLVLLTRSPSAPLAL EEEEEECCCCHHHHH	20.26	24719451
388	Phosphorylation	VLLTRSPSAPLALVL EEEECCCCHHHHHHH	43.71	24719451
403	Phosphorylation	SQLMDGFSMLEKKLK HHHHHHHHHHHHHHH	28.17	24719451
485 (in isoform 2)	Ubiquitination	-	22.38	21890473
498 (in isoform 4)	Ubiquitination	-	5.00	21890473
513	Ubiquitination	VQRLMREKLTDWKDF HHHHHHHHCCCHHHH	46.45	-
515	Phosphorylation	RLMREKLTDWKDFLL HHHHHHCCCHHHHEE	51.38	18510355
518	Ubiquitination	REKLTDWKDFLLVKS HHHCCCHHHHEEEEC	41.22	21890473
518	Ubiquitination	REKLTDWKDFLLVKS HHHCCCHHHHEEEEC	41.22	21890473
518 (in isoform 1)	Ubiquitination	-	41.22	21890473
592	Phosphorylation	LIQLARRYLQKGYTT HHHHHHHHHHCCCEE	14.13	-
611	Phosphorylation	EGDFYCSYFLWFEND CCCEEEEEEEEEECC	10.10	-

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

Oops, there are no upstream regulatory protein records of HPS1_HUMAN !!

Functions of PTM Sites

Oops, there are no descriptions of PTM sites of HPS1_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 HPS1_HUMAN !!

Protein-Protein Interaction

Interacting Protein	Gene Name	Interaction Type	PPI Reference
SALL1_HUMAN	SALL1	physical	26186194
SALL2_HUMAN	SALL2	physical	26186194
TASOR_HUMAN	FAM208A	physical	26186194
S27A2_HUMAN	SLC27A2	physical	26186194
AMRA1_HUMAN	AMBRA1	physical	26186194
ZBT10_HUMAN	ZBTB10	physical	26186194
SALL1_HUMAN	SALL1	physical	28514442
SALL2_HUMAN	SALL2	physical	28514442
AMRA1_HUMAN	AMBRA1	physical	28514442
ZBT10_HUMAN	ZBTB10	physical	28514442

Drug and Disease Associations

• Kegg Disease
• There are no disease associations of PTM sites.
• OMIM Disease
• 203300: Hermansky-Pudlak syndrome 1 (HPS1)
• Kegg Drug
• There are no disease associations of PTM sites.
• DrugBank
• There are no disease associations of PTM sites.