P40337

※ Protein Information

Tag	Content
UniProt Accession	VHL_HUMAN; P40337;
Entrez ID	7428
GenBank Protein ID	NM_000551.3; NM_198156.2;
GenBank Nucleotide ID	NP_000542.1; NP_937799.1;
Protein Name	von Hippel-Lindau disease tumor suppressor (Protein G7) (pVHL)
Gene Name	VHL
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2. Functional Description Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2.
Sequence (Fasta)	MPRRAENWDE AEVGAEEAGV EEYGPEEDGG EESGAEESGP EESGPEELGA EEEMEAGRPR 60 PVLRSVNSRE PSQVIFCNRS PRVVLPVWLN FDGEPQPYPT LPPGTGRRIH SYRGHLWLFR 120 DAGTHDGLLV NQTELFVPSL NVDGQPIFAN ITLPVYTLKE RCLQVVRSLV KPENYRRLDI 180 VRSLYEDLED HPNVQKDLER LTQERIAHQR MGD 214 Fasta Sequence >P40337\|VHL\|Homo sapiens (Human) MPRRAENWDEAEVGAEEAGVEEYGPEEDGGEESGAEESGPEESGPEELGAEEEMEAGRPRPVLRSVNSREPSQVIFCNRSPRVVLPVWLNFDGEPQPYPTLPPGTGRRIHSYRGHLWLFRDAGTHDGLLVNQTELFVPSLNVDGQPIFANITLPVYTLKERCLQVVRSLVKPENYRRLDIVRSLYEDLEDHPNVQKDLERLTQERIAHQRMGD

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Serine Phosphorylation	Renal cell carcinoma		P	S72	23785518
1	[Reference]: Identification of pVHL as a novel substrate for Aurora-A in clear cell renal cell carcinoma (ccRCC)

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	renal, haemangioma, pheochromocytoma renal, haemangioma, pheochromocytoma Von Hippel-Lindau syndrome
CTD (Curated) (count: 9) (view all)	MESH:D000236 ; Adenoma MESH:D002277 ; Carcinoma MESH:D002292 ; Carcinoma, Renal Cell MESH:C563918 ; Erythrocytosis, Familial, 2 MESH:D007680 ; Kidney Neoplasms MESH:D008175 ; Lung Neoplasms MESH:D010673 ; Pheochromocytoma MESH:D006623 ; von Hippel-Lindau Disease MESH:D009396 ; Wilms Tumor
HGMD (count: 386) (view all)	CD983004; Von Hippel-Lindau syndrome; Small deletions CD057265; Von Hippel-Lindau syndrome; Small deletions CD024061; Von Hippel-Lindau syndrome; Small deletions CD962179; Von Hippel-Lindau syndrome; Small deletions CD962177; Von Hippel-Lindau syndrome; Small deletions CD056864; Von Hippel-Lindau syndrome & pheochromocytomas; Small deletions CD003987; Von Hippel-Lindau syndrome; Small deletions CD003110; Von Hippel-Lindau syndrome; Small deletions CD024060; Von Hippel-Lindau syndrome; Small deletions CD983001; Von Hippel-Lindau syndrome; Small deletions CD951879; Von Hippel-Lindau syndrome; Small deletions CD042627; Von Hippel-Lindau syndrome; Small deletions CD061483; Von Hippel-Lindau syndrome; Small deletions CD011878; Von Hippel-Lindau syndrome; Small deletions CD071415; Von Hippel-Lindau syndrome; Small deletions CD003111; Von Hippel-Lindau syndrome; Small deletions CD941807; Von Hippel-Lindau syndrome; Small deletions CD941811; Von Hippel-Lindau syndrome; Small deletions CD011879; Von Hippel-Lindau syndrome; Small deletions CD941805; Von Hippel-Lindau syndrome; Small deletions CD031546; Von Hippel-Lindau syndrome; Small deletions CD071416; Von Hippel-Lindau syndrome; Small deletions CD042626; Von Hippel-Lindau syndrome; Small deletions CD031547; Von Hippel-Lindau syndrome; Small deletions CD951874; Von Hippel-Lindau syndrome; Small deletions CD042625; Von Hippel-Lindau syndrome; Small deletions CD983007; Von Hippel-Lindau syndrome; Small deletions CD962180; Von Hippel-Lindau syndrome; Small deletions HD971483; Von Hippel-Lindau syndrome; Small deletions CD941808; Von Hippel-Lindau syndrome; Small deletions CD003108; Von Hippel-Lindau syndrome; Small deletions CD004316; Von Hippel-Lindau syndrome; Small deletions CD071417; Von Hippel-Lindau syndrome; Small deletions CD983000; Von Hippel-Lindau syndrome; Small deletions CD931246; Von Hippel-Lindau syndrome; Small deletions CD071418; Von Hippel-Lindau syndrome; Small deletions CD031548; Von Hippel-Lindau syndrome; Small deletions HD971482; Von Hippel-Lindau syndrome; Small deletions CD983006; Von Hippel-Lindau syndrome; Small deletions CD941812; Von Hippel-Lindau syndrome; Small deletions CD003109; Von Hippel-Lindau syndrome; Small deletions CD004319; Von Hippel-Lindau syndrome; Small deletions CD962178; Von Hippel-Lindau syndrome; Small deletions HD971374; Von Hippel-Lindau syndrome; Small deletions HD971372; Von Hippel-Lindau syndrome; Small deletions CD951873; Von Hippel-Lindau syndrome; Small deletions CD962175; Von Hippel-Lindau syndrome; Small deletions CD962176; Von Hippel-Lindau syndrome; Small deletions CD941804; Von Hippel-Lindau syndrome; Small deletions CD951869; Von Hippel-Lindau syndrome; Small deletions CD941803; Von Hippel-Lindau syndrome; Small deletions CD941802; Von Hippel-Lindau syndrome; Small deletions CD941809; Von Hippel-Lindau syndrome; Small deletions CD951870; Von Hippel-Lindau syndrome; Small deletions CD951871; Von Hippel-Lindau syndrome; Small deletions CD004317; Von Hippel-Lindau syndrome; Small deletions CD962181; Von Hippel-Lindau syndrome; Small deletions CD004318; Von Hippel-Lindau syndrome; Small deletions CD983005; Von Hippel-Lindau syndrome; Small deletions CD951876; Von Hippel-Lindau syndrome; Small deletions CD951875; Von Hippel-Lindau syndrome; Small deletions CD951877; Von Hippel-Lindau syndrome; Small deletions CD941806; Von Hippel-Lindau syndrome; Small deletions CD983008; Von Hippel-Lindau syndrome; Small deletions CD951878; Von Hippel-Lindau syndrome; Small deletions CD951872; Von Hippel-Lindau syndrome; Small deletions CD962182; Von Hippel-Lindau syndrome; Small deletions CD983002; Von Hippel-Lindau syndrome; Small deletions CD071419; Von Hippel-Lindau syndrome; Small deletions CD941810; Von Hippel-Lindau syndrome; Small deletions CD983003; Von Hippel-Lindau syndrome; Small deletions CG015695; Von Hippel-Lindau syndrome; Gross deletions CG962960; Von Hippel-Lindau syndrome; Gross deletions CG995028; Haemangioblastoma; Gross deletions CG072770; Von Hippel-Lindau syndrome; Gross deletions CG962961; Von Hippel-Lindau syndrome; Gross deletions CG067311; Von Hippel-Lindau syndrome; Gross deletions CG025035; Von Hippel-Lindau syndrome; Gross deletions CG984484; Von Hippel-Lindau syndrome; Gross deletions CG995029; Haemangioblastoma; Gross deletions CG072771; Von Hippel-Lindau syndrome; Gross deletions CG067312; Von Hippel-Lindau syndrome; Gross deletions CG015696; Von Hippel-Lindau syndrome; Gross deletions CG072772; Von Hippel-Lindau syndrome; Gross deletions CG005199; Von Hippel-Lindau syndrome; Gross deletions CG071501; Von Hippel-Lindau syndrome; Gross deletions CG005201; Von Hippel-Lindau syndrome; Gross deletions CG952368; Von Hippel-Lindau syndrome; Gross deletions CG072773; Von Hippel-Lindau syndrome; Gross deletions CG072774; Von Hippel-Lindau syndrome; Gross deletions CG072775; Von Hippel-Lindau syndrome; Gross deletions CG072776; Von Hippel-Lindau syndrome; Gross deletions CG072777; Von Hippel-Lindau syndrome; Gross deletions CG025036; Von Hippel-Lindau syndrome; Gross deletions CG025037; Von Hippel-Lindau syndrome; Gross deletions CG005202; Von Hippel-Lindau syndrome; Gross deletions CG942248; Von Hippel-Lindau syndrome; Gross deletions CG005203; Von Hippel-Lindau syndrome; Gross deletions CG073896; Von Hippel-Lindau syndrome; Gross deletions CG942249; Von Hippel-Lindau syndrome; Gross deletions CG073897; Von Hippel-Lindau syndrome; Gross deletions CG005200; Haemangioblastoma; Gross deletions CG995030; Von Hippel-Lindau syndrome; Gross deletions CG035358; Von Hippel-Lindau syndrome; Gross deletions CG984485; Von Hippel-Lindau syndrome; Gross deletions CG931347; Von Hippel-Lindau syndrome; Gross deletions CG931348; Von Hippel-Lindau syndrome; Gross deletions CN035410; Von Hippel-Lindau syndrome; Gross insertions CX962712; Phaeochromocytoma; Small indels CP044545; Von Hippel-Lindau syndrome; Small indels HX040002; Von Hippel-Lindau syndrome; Small indels CX984038; Von Hippel-Lindau syndrome; Small indels HX971376; Von Hippel-Lindau syndrome; Small indels CP025188; Phaeochromocytoma; Small indels CX984039; Phaeochromocytoma; Small indels CX071476; Von Hippel-Lindau syndrome; Small indels CX071477; Von Hippel-Lindau syndrome; Small indels CX073799; Von Hippel-Lindau syndrome; Small indels CI011898; Von Hippel-Lindau syndrome; Small insertions CI024080; Von Hippel-Lindau syndrome; Small insertions CI941925; Von Hippel-Lindau syndrome; Small insertions CI983251; Von Hippel-Lindau syndrome; Small insertions CI093525; Von Hippel-Lindau syndrome; Small insertions CI941927; Von Hippel-Lindau syndrome; Small insertions CI941930; Von Hippel-Lindau syndrome; Small insertions CI024081; Von Hippel-Lindau syndrome; Small insertions CI941929; Von Hippel-Lindau syndrome; Small insertions CI040350; Von Hippel-Lindau syndrome; Small insertions CI983254; Von Hippel-Lindau syndrome; Small insertions CI011897; Von Hippel-Lindau syndrome; Small insertions CI024082; Von Hippel-Lindau syndrome; Small insertions CI071465; Von Hippel-Lindau syndrome; Small insertions CI951988; Von Hippel-Lindau syndrome; Small insertions CI093526; Von Hippel-Lindau syndrome; Small insertions CI071466; Von Hippel-Lindau syndrome; Small insertions CI983253; Von Hippel-Lindau syndrome; Small insertions CI983252; Von Hippel-Lindau syndrome; Small insertions CI994275; Haemangioblastoma; Small insertions CI951986; Von Hippel-Lindau syndrome; Small insertions CI003124; Von Hippel-Lindau syndrome; Small insertions CI066448; Haemangioblastoma; Small insertions CI994274; Haemangioblastoma; Small insertions CI962362; Von Hippel-Lindau syndrome; Small insertions CI003125; Von Hippel-Lindau syndrome; Small insertions CI951984; Von Hippel-Lindau syndrome; Small insertions CI073785; Von Hippel-Lindau syndrome; Small insertions CI962361; Von Hippel-Lindau syndrome; Small insertions CI071467; Von Hippel-Lindau syndrome; Small insertions CI003123; Von Hippel-Lindau syndrome; Small insertions CI071468; Von Hippel-Lindau syndrome; Small insertions CI011896; Von Hippel-Lindau syndrome; Small insertions CI941926; Von Hippel-Lindau syndrome; Small insertions CI042660; Von Hippel-Lindau syndrome; Small insertions CI951987; Von Hippel-Lindau syndrome; Small insertions CI994273; Haemangioblastoma; Small insertions CI962363; Von Hippel-Lindau syndrome; Small insertions CI065860; Von Hippel-Lindau syndrome; Small insertions CI992812; Von Hippel-Lindau syndrome; Small insertions CI962364; Von Hippel-Lindau syndrome; Small insertions HI971375; Von Hippel-Lindau syndrome; Small insertions CI951985; Von Hippel-Lindau syndrome; Small insertions CI024083; Von Hippel-Lindau syndrome; Small insertions CI984223; Von Hippel-Lindau syndrome; Small insertions CI941928; Von Hippel-Lindau syndrome; Small insertions CM981994; Phaeochromocytoma; Missense/nonsense CM981995; Phaeochromocytoma; Missense/nonsense CM981996; Von Hippel-Lindau syndrome; Missense/nonsense CM023991; Von Hippel-Lindau syndrome; Missense/nonsense CM092615; Von Hippel-Lindau syndrome; Missense/nonsense CM981997; Phaeochromocytoma; Missense/nonsense CM981998; Von Hippel-Lindau syndrome; Missense/nonsense CM023992; Von Hippel-Lindau syndrome; Missense/nonsense CM020977; Phaeochromocytoma; Missense/nonsense CM941362; Von Hippel-Lindau syndrome; Missense/nonsense CM941363; Von Hippel-Lindau syndrome; Missense/nonsense CM941364; Von Hippel-Lindau syndrome; Missense/nonsense CM073416; Haemangioblastoma; Missense/nonsense CM003058; Von Hippel-Lindau syndrome; Missense/nonsense CM971566; Phaeochromocytoma; Missense/nonsense CM984688; Haemangioblastoma; Missense/nonsense CM951268; Von Hippel-Lindau syndrome; Missense/nonsense CM071138; Von Hippel-Lindau syndrome; Missense/nonsense CM951269; Von Hippel-Lindau syndrome; Missense/nonsense CM961417; Von Hippel-Lindau syndrome; Missense/nonsense CM071136; Von Hippel-Lindau syndrome; Missense/nonsense CM951270; Von Hippel-Lindau syndrome; Missense/nonsense CM981999; Von Hippel-Lindau syndrome; Missense/nonsense CM982000; Von Hippel-Lindau syndrome; Missense/nonsense CM951271; Von Hippel-Lindau syndrome; Missense/nonsense CM951272; Von Hippel-Lindau syndrome; Missense/nonsense HM971371; Von Hippel-Lindau syndrome; Missense/nonsense CM941365; Von Hippel-Lindau syndrome; Missense/nonsense CM941366; Von Hippel-Lindau syndrome; Missense/nonsense CM057219; Polycythaemia; Missense/nonsense CM961418; Von Hippel-Lindau syndrome; Missense/nonsense CM951273; Von Hippel-Lindau syndrome; Missense/nonsense CM941367; Von Hippel-Lindau syndrome; Missense/nonsense CM023993; Von Hippel-Lindau syndrome; Missense/nonsense CM971567; Phaeochromocytoma; Missense/nonsense CM951274; Von Hippel-Lindau syndrome; Missense/nonsense CM023994; Von Hippel-Lindau syndrome; Missense/nonsense HM971792; Von Hippel-Lindau syndrome; Missense/nonsense CM077652; Phaeochromocytoma; Missense/nonsense CM983401; Phaeochromocytoma; Missense/nonsense CM011823; Von Hippel-Lindau syndrome; Missense/nonsense CM982001; Von Hippel-Lindau syndrome; Missense/nonsense CM951275; Von Hippel-Lindau syndrome; Missense/nonsense CM951276; Von Hippel-Lindau syndrome; Missense/nonsense CM952019; Von Hippel-Lindau syndrome; Missense/nonsense CM042499; Von Hippel-Lindau syndrome; Missense/nonsense CM951278; Von Hippel-Lindau syndrome; Missense/nonsense CM031392; Von Hippel-Lindau syndrome; Missense/nonsense CM951277; Von Hippel-Lindau syndrome; Missense/nonsense CM003059; Von Hippel-Lindau syndrome; Missense/nonsense CM994241; Haemangioblastoma; Missense/nonsense CM941368; Von Hippel-Lindau syndrome; Missense/nonsense CM004284; Von Hippel-Lindau syndrome; Missense/nonsense CM085764; Phaeochromocytoma; Missense/nonsense HM971480; Von Hippel-Lindau syndrome; Missense/nonsense CM042500; Von Hippel-Lindau syndrome; Missense/nonsense CM961419; Von Hippel-Lindau syndrome; Missense/nonsense CM011824; Von Hippel-Lindau syndrome; Missense/nonsense CM020978; Phaeochromocytoma; Missense/nonsense CM951279; Von Hippel-Lindau syndrome; Missense/nonsense CM941369; Von Hippel-Lindau syndrome; Missense/nonsense CM092616; Von Hippel-Lindau syndrome; Missense/nonsense CM961420; Von Hippel-Lindau syndrome; Missense/nonsense CM982002; Von Hippel-Lindau syndrome; Missense/nonsense CM042501; Von Hippel-Lindau syndrome; Missense/nonsense CM941370; Von Hippel-Lindau syndrome; Missense/nonsense CM004285; Von Hippel-Lindau syndrome; Missense/nonsense CM961421; Von Hippel-Lindau syndrome; Missense/nonsense CM087000; Phaeochromocytoma; Missense/nonsense CM023995; Von Hippel-Lindau syndrome; Missense/nonsense CM057218; Polycythaemia; Missense/nonsense CM982003; Von Hippel-Lindau syndrome; Missense/nonsense CM020979; Phaeochromocytoma; Missense/nonsense CM023996; Von Hippel-Lindau syndrome; Missense/nonsense CM982004; Von Hippel-Lindau syndrome; Missense/nonsense CM951280; Von Hippel-Lindau syndrome; Missense/nonsense HM971583; Pancreatic cancer; Missense/nonsense CM951281; Von Hippel-Lindau syndrome; Missense/nonsense CM023997; Von Hippel-Lindau syndrome; Missense/nonsense CM992977; Von Hippel-Lindau syndrome; Missense/nonsense CM951283; Von Hippel-Lindau syndrome; Missense/nonsense CM951282; Von Hippel-Lindau syndrome; Missense/nonsense CM941371; Von Hippel-Lindau syndrome; Missense/nonsense CM044739; Von Hippel-Lindau syndrome; Missense/nonsense CM951284; Von Hippel-Lindau syndrome; Missense/nonsense CM941372; Von Hippel-Lindau syndrome; Missense/nonsense CM071137; Von Hippel-Lindau syndrome; Missense/nonsense CM961422; Von Hippel-Lindau syndrome; Missense/nonsense CM951285; Von Hippel-Lindau syndrome; Missense/nonsense CM023998; Von Hippel-Lindau syndrome; Missense/nonsense CM982005; Von Hippel-Lindau syndrome; Missense/nonsense CM961423; Von Hippel-Lindau syndrome; Missense/nonsense CM961424; Von Hippel-Lindau syndrome; Missense/nonsense CM961425; Von Hippel-Lindau syndrome; Missense/nonsense HM971481; Von Hippel-Lindau syndrome; Missense/nonsense CM951286; Von Hippel-Lindau syndrome; Missense/nonsense CM941373; Von Hippel-Lindau syndrome; Missense/nonsense CM961426; Von Hippel-Lindau syndrome; Missense/nonsense CM056725; Von Hippel-Lindau syndrome & pheochromocytomas; Missense/nonsense CM952202; Phaeochromocytoma; Missense/nonsense CM951287; Von Hippel-Lindau syndrome; Missense/nonsense CM014753; Von Hippel-Lindau syndrome; Missense/nonsense CM056724; Von Hippel-Lindau syndrome & pheochromocytomas; Missense/nonsense CM941374; Von Hippel-Lindau syndrome; Missense/nonsense CM031393; Von Hippel-Lindau syndrome; Missense/nonsense CM078110; Phaeochromocytoma; Missense/nonsense CM030385; Polycythaemia, with high epo concentration; Missense/nonsense CM093522; Von Hippel-Lindau syndrome; Missense/nonsense CM040270; Von Hippel-Lindau syndrome; Missense/nonsense CM984100; Von Hippel-Lindau syndrome; Missense/nonsense CM961427; Von Hippel-Lindau syndrome; Missense/nonsense CM031394; Von Hippel-Lindau syndrome; Missense/nonsense CM982006; Von Hippel-Lindau syndrome; Missense/nonsense CM004286; Von Hippel-Lindau syndrome; Missense/nonsense CM042502; Von Hippel-Lindau syndrome; Missense/nonsense CM994242; Haemangioblastoma; Missense/nonsense CM961428; Von Hippel-Lindau syndrome; Missense/nonsense CM071141; Von Hippel-Lindau syndrome; Missense/nonsense CM941375; Von Hippel-Lindau syndrome; Missense/nonsense CM941376; Von Hippel-Lindau syndrome; Missense/nonsense CM941377; Von Hippel-Lindau syndrome; Missense/nonsense CM982008; Phaeochromocytoma; Missense/nonsense CM982007; Phaeochromocytoma; Missense/nonsense CM994243; Haemangioblastoma; Missense/nonsense CM982009; Phaeochromocytoma; Missense/nonsense CM951288; Von Hippel-Lindau syndrome; Missense/nonsense CM982010; Von Hippel-Lindau syndrome; Missense/nonsense CM994244; Haemangioblastoma; Missense/nonsense CM081470; Phaeochromocytoma and paraganglioma; Missense/nonsense CM073415; Von Hippel-Lindau syndrome; Missense/nonsense CM941378; Von Hippel-Lindau syndrome; Missense/nonsense CM065515; Phaeochromocytoma; Missense/nonsense CM023999; Von Hippel-Lindau syndrome; Missense/nonsense CM071140; Von Hippel-Lindau syndrome; Missense/nonsense CM020980; Phaeochromocytoma; Missense/nonsense CM075044; Phaeochromocytoma and paraganglioma; Missense/nonsense CM024000; Von Hippel-Lindau syndrome; Missense/nonsense CM020981; Phaeochromocytoma; Missense/nonsense CM961429; Von Hippel-Lindau syndrome; Missense/nonsense CM951289; Von Hippel-Lindau syndrome; Missense/nonsense CM941379; Von Hippel-Lindau syndrome; Missense/nonsense CM941380; Von Hippel-Lindau syndrome; Missense/nonsense CM961430; Von Hippel-Lindau syndrome; Missense/nonsense CM951290; Von Hippel-Lindau syndrome; Missense/nonsense CM961431; Von Hippel-Lindau syndrome; Missense/nonsense CM961432; Von Hippel-Lindau syndrome; Missense/nonsense CM941381; Von Hippel-Lindau syndrome; Missense/nonsense CM951294; Von Hippel-Lindau syndrome; Missense/nonsense CM951291; Von Hippel-Lindau syndrome; Missense/nonsense CM951292; Von Hippel-Lindau syndrome; Missense/nonsense CM951293; Von Hippel-Lindau syndrome; Missense/nonsense CM067072; Phaeochromocytoma ?; Missense/nonsense CM951295; Von Hippel-Lindau syndrome; Missense/nonsense CM093523; Von Hippel-Lindau syndrome; Missense/nonsense CM045626; Von Hippel-Lindau syndrome; Missense/nonsense CM951296; Von Hippel-Lindau syndrome; Missense/nonsense CM031757; Phaeochromocytoma and paraganglioma; Missense/nonsense CM074631; Von Hippel-Lindau syndrome ?; Missense/nonsense CM961433; Von Hippel-Lindau syndrome; Missense/nonsense HM971603; Von Hippel-Lindau syndrome; Missense/nonsense CM992437; Von Hippel-Lindau syndrome; Missense/nonsense CM073417; Phaeochromocytoma; Missense/nonsense CM961434; Von Hippel-Lindau syndrome; Missense/nonsense CM941383; Von Hippel-Lindau syndrome; Missense/nonsense CM941384; Von Hippel-Lindau syndrome; Missense/nonsense CM941382; Von Hippel-Lindau syndrome; Missense/nonsense CM091528; Von Hippel-Lindau syndrome; Missense/nonsense CM003060; Von Hippel-Lindau syndrome; Missense/nonsense CM941385; Von Hippel-Lindau syndrome; Missense/nonsense CM961435; Von Hippel-Lindau syndrome; Missense/nonsense CM961436; Von Hippel-Lindau syndrome; Missense/nonsense CM982011; Von Hippel-Lindau syndrome; Missense/nonsense CM040272; Von Hippel-Lindau syndrome; Missense/nonsense CM024001; Von Hippel-Lindau syndrome; Missense/nonsense CM961437; Von Hippel-Lindau syndrome; Missense/nonsense CM040271; Von Hippel-Lindau syndrome; Missense/nonsense CM982012; Von Hippel-Lindau syndrome; Missense/nonsense CM961438; Von Hippel-Lindau syndrome; Missense/nonsense CM961439; Von Hippel-Lindau syndrome; Missense/nonsense CM941386; Von Hippel-Lindau syndrome; Missense/nonsense CM003061; Von Hippel-Lindau syndrome; Missense/nonsense CM071139; Haemangioblastoma; Missense/nonsense CM941387; Von Hippel-Lindau syndrome; Missense/nonsense CM941388; Von Hippel-Lindau syndrome; Missense/nonsense CM042503; Von Hippel-Lindau syndrome; Missense/nonsense CM961440; Von Hippel-Lindau syndrome; Missense/nonsense CM941389; Von Hippel-Lindau syndrome; Missense/nonsense CM941390; Von Hippel-Lindau syndrome; Missense/nonsense CM951297; Von Hippel-Lindau syndrome; Missense/nonsense CM951298; Von Hippel-Lindau syndrome; Missense/nonsense CM951299; Von Hippel-Lindau syndrome; Missense/nonsense CM982013; Phaeochromocytoma; Missense/nonsense CM951300; Von Hippel-Lindau syndrome; Missense/nonsense CM032043; Polycythaemia, with high epo concentration; Missense/nonsense CM032044; Polycythaemia, with high epo concentration; Missense/nonsense CM941391; Von Hippel-Lindau syndrome; Missense/nonsense CM093524; Von Hippel-Lindau syndrome; Missense/nonsense CM081471; Phaeochromocytoma and paraganglioma; Missense/nonsense CM020982; Phaeochromocytoma; Missense/nonsense CM941392; Von Hippel-Lindau syndrome; Missense/nonsense CM961441; Von Hippel-Lindau syndrome; Missense/nonsense CR011856; Von Hippel-Lindau syndrome; Regulatory CS071275; Von Hippel-Lindau syndrome; Splicing CS984220; Von Hippel-Lindau syndrome; Splicing CS014769; Von Hippel-Lindau syndrome; Splicing CS982396; Von Hippel-Lindau syndrome; Splicing CS031467; Von Hippel-Lindau syndrome; Splicing CS961703; Von Hippel-Lindau syndrome; Splicing CS044968; Von Hippel-Lindau syndrome; Splicing CS941546; Von Hippel-Lindau syndrome; Splicing CS961704; Von Hippel-Lindau syndrome; Splicing CS961705; Von Hippel-Lindau syndrome; Splicing CS961706; Von Hippel-Lindau syndrome; Splicing CS071276; Von Hippel-Lindau syndrome; Splicing CS941547; Von Hippel-Lindau syndrome; Splicing CS066318; Von Hippel-Lindau syndrome; Splicing CS003080; Von Hippel-Lindau syndrome; Splicing CS011850; Von Hippel-Lindau syndrome; Splicing CS004297; Von Hippel-Lindau syndrome; Splicing CS961708; Von Hippel-Lindau syndrome; Splicing CS951541; Von Hippel-Lindau syndrome; Splicing CS961707; Von Hippel-Lindau syndrome; Splicing
GWASdb (count: 1)	rs779803; Urinary metabolites; kidney disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 14) (view all)	100 GEPQPYPTLPPGTGR dbPAF 105 YPTLPPGTGRRIHSY dbPAF 111 GTGRRIHSYRGHLWL dbPAF 112 TGRRIHSYRGHLWLF dbPAF 168 RCLQVVRSLVKPENY dbPAF 175 SLVKPENYRRLDIVR dbPAF 183 RRLDIVRSLYEDLED dbPAF 185 LDIVRSLYEDLEDHP dbPAF 202 QKDLERLTQERIAHQ dbPAF 33 EEDGGEESGAEESGP dbPAF 38 EESGAEESGPEESGP dbPAF 43 EESGPEESGPEELGA dbPAF 68 PVLRSVNSREPSQVI dbPAF 72 SVNSREPSQVIFCNR dbPAF
Ubiquitination (count: 2)	171 QVVRSLVKPENYRRL PLMD 196 EDHPNVQKDLERLTQ PLMD
Sumoylation (count: 1)	171 QVVRSLVKPENYRRL PLMD
Neddylation (count: 3)	159 TLPVYTLKERCLQVV PLMD 171 QVVRSLVKPENYRRL PLMD 196 EDHPNVQKDLERLTQ PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

A0N4V7	P40337	IntAct
A8MV58	P40337	BioGRID
B7WPD3	P40337	HPRD
B8ZZI3	P40337	IntAct
C9J2F8	P40337	IntAct
E7ENH9	P40337	IntAct
E9PRY8	P40337	IntAct
F5GXF0	P40337	HPRD
F5H4G9	P40337	HPRD
F8W1H5	P40337	IntAct
G3V1S2	P40337	HPRD; IntAct; MINT
H0Y5W0	P40337	IntAct
H7BY62	P40337	IntAct
O00264	P40337	IntAct
O00299	P40337	IntAct
O14709	P40337	HPRD
O14737	P40337	IntAct
O15067	P40337	IntAct
O43294	P40337	IntAct
O43809	P40337	IntAct
O60493	P40337	IntAct
O60888	P40337	IntAct
O75347	P40337	IntAct
O75396	P40337	IntAct
O75608	P40337	IntAct
O75643	P40337	IntAct
O75694	P40337	IntAct
O75716	P40337	IntAct
O75912	P40337	IntAct
O94854	P40337	IntAct
O94888	P40337	IntAct
O95260	P40337	IntAct
O95267	P40337	IntAct
O95340	P40337	IntAct
P00167	P40337	IntAct
P00492	P40337	IntAct
P01024	P40337	IntAct
P02751	P40337	MINT;HPRD
P04080	P40337	IntAct
P04179	P40337	IntAct
P05455	P40337	IntAct
P06400	P40337	IntAct
P07237	P40337	IntAct
P07355	P40337	IntAct
P07741	P40337	IntAct
P08047	P40337	HPRD
P08134	P40337	IntAct
P08476	P40337	BioGRID
P09661	P40337	IntAct
P09936	P40337	IntAct
P10599	P40337	IntAct
P12268	P40337	IntAct
P13693	P40337	IntAct
P13797	P40337	IntAct
P14174	P40337	IntAct
P15121	P40337	IntAct
P15170	P40337	IntAct
P15311	P40337	IntAct
P16949	P40337	IntAct
P17844	P40337	IntAct
P17980	P40337	HPRD
P19105	P40337	IntAct
P20290	P40337	IntAct
P20340	P40337	IntAct
P20618	P40337	IntAct
P20674	P40337	IntAct
P20701	P40337	IntAct
P20930	P40337	IntAct
P21333	P40337	HPRD
P21980	P40337	IntAct
P22061	P40337	IntAct
P22626	P40337	HPRD
P23284	P40337	IntAct
P23508	P40337	IntAct
P23919	P40337	IntAct
P24539	P40337	IntAct
P24666	P40337	IntAct
P24941	P40337	IntAct
P25787	P40337	IntAct
P26441	P40337	IntAct
P26639	P40337	IntAct
P26640	P40337	IntAct
P27816	P40337	IntAct
P28074	P40337	IntAct
P29401	P40337	IntAct
P30046	P40337	IntAct
P30084	P40337	IntAct
P30086	P40337	IntAct
P31025	P40337	BioGRID
P31939	P40337	IntAct
P31949	P40337	IntAct
P33176	P40337	IntAct
P33993	P40337	IntAct
P35080	P40337	IntAct
P35227	P40337	IntAct
P35244	P40337	IntAct
P35268	P40337	IntAct
P37108	P40337	IntAct
P37802	P40337	IntAct
P39019	P40337	IntAct
P40227	P40337	IntAct
P40337	P41252	IntAct
P40337	P42766	IntAct
P40337	P42771	IntAct
P40337	P43307	IntAct
P40337	P43487	IntAct
P40337	P46781	IntAct
P40337	P46783	IntAct
P40337	P47813	IntAct
P40337	P47914	IntAct
P40337	P47985	IntAct
P40337	P48047	IntAct
P40337	P48739	IntAct
P40337	P49257	IntAct
P40337	P49368	HPRD
P40337	P49720	IntAct
P40337	P49721	IntAct
P40337	P49755	IntAct
P40337	P49773	IntAct
P40337	P50395	IntAct
P40337	P50748	IntAct
P40337	P51149	IntAct
P40337	P56134	IntAct
P40337	P58546	IntAct
P40337	P60660	IntAct
P40337	P60900	IntAct
P40337	P61019	IntAct
P40337	P61077	IntAct
P40337	P61081	IntAct
P40337	P61086	IntAct
P40337	P61088	IntAct
P40337	P61106	IntAct
P40337	P61513	IntAct
P40337	P61604	IntAct
P40337	P61626	IntAct
P40337	P61758	HPRD
P40337	P62158	IntAct
P40337	P62249	IntAct
P40337	P62330	IntAct
P40337	P62487	HPRD
P40337	P62491	IntAct
P40337	P62750	IntAct
P40337	P62807	IntAct
P40337	P62834	IntAct
P40337	P62877	HPRD; IntAct
P40337	P62937	IntAct
P40337	P62942	IntAct
P40337	P63244	IntAct
P40337	P68036	IntAct
P40337	P78396	IntAct
P40337	P99999	IntAct
P40337	Q00005	IntAct
P40337	Q01105	IntAct
P40337	Q01469	IntAct
P40337	Q02543	IntAct
P40337	Q04724	IntAct
P40337	Q04941	IntAct
P40337	Q05513	MINT
P40337	Q07020	IntAct
P40337	Q12996	IntAct
P40337	Q13315	IntAct
P40337	Q13404	IntAct
P40337	Q13405	BioGRID
P40337	Q13526	IntAct
P40337	Q14019	IntAct
P40337	Q14197	IntAct
P40337	Q14203	IntAct
P40337	Q14318	IntAct
P40337	Q15019	IntAct
P40337	Q15185	IntAct
P40337	Q15286	IntAct
P40337	Q15363	IntAct
P40337	Q15365	IntAct
P40337	Q15369	HPRD; IntAct; MINT
P40337	Q15370	IntAct
P40337	Q15459	IntAct
P40337	Q15652	IntAct
P40337	Q15836	IntAct
P40337	Q15843	IntAct
P40337	Q16658	IntAct
P40337	Q16665	HPRD; IntAct; MINT
P40337	Q16878	IntAct
P40337	Q3B820	IntAct
P40337	Q3MHD2	IntAct
P40337	Q3ZAQ7	IntAct
P40337	Q4G148	IntAct
P40337	Q5XKP0	IntAct
P40337	Q6IE81	HPRD
P40337	Q6P1L8	IntAct
P40337	Q7Z443	IntAct
P40337	Q86SX6	IntAct
P40337	Q8IUC4	IntAct
P40337	Q8N163	IntAct
P40337	Q8N4S0	IntAct
P40337	Q8N6L1	IntAct
P40337	Q8NDH2	IntAct
P40337	Q8TBZ2	IntAct
P40337	Q8TDY2	IntAct
P40337	Q8TE49	IntAct
P40337	Q8TEY7	HPRD
P40337	Q8WU17	HPRD; IntAct
P40337	Q92570	HPRD
P40337	Q92830	IntAct
P40337	Q92839	IntAct
P40337	Q92905	IntAct
P40337	Q92922	IntAct
P40337	Q93062	IntAct
P40337	Q969H8	IntAct
P40337	Q96AG4	IntAct
P40337	Q96FV9	IntAct
P40337	Q96FW1	IntAct
P40337	Q96KM6	MINT
P40337	Q96KS0	IntAct
P40337	Q96QK1	IntAct
P40337	Q99417	IntAct
P40337	Q99471	IntAct
P40337	Q99595	IntAct
P40337	Q99661	IntAct
P40337	Q99700	IntAct
P40337	Q99814	HPRD; IntAct
P40337	Q99832	IntAct
P40337	Q9BRA2	IntAct
P40337	Q9BRT2	IntAct
P40337	Q9C0D2	IntAct
P40337	Q9GZT9	IntAct
P40337	Q9H0U4	IntAct
P40337	Q9H6Z9	IntAct
P40337	Q9H773	IntAct
P40337	Q9HAV7	IntAct
P40337	Q9NR31	IntAct
P40337	Q9NR33	BioGRID
P40337	Q9NWT6	HPRD
P40337	Q9NZ23	IntAct
P40337	Q9P031	IntAct
P40337	Q9P258	IntAct
P40337	Q9UBQ5	IntAct
P40337	Q9UDY8	IntAct
P40337	Q9UHV9	IntAct
P40337	Q9UI30	IntAct
P40337	Q9ULC4	IntAct
P40337	Q9UM00	IntAct
P40337	Q9UM11	IntAct
P40337	Q9UNM6	IntAct
P40337	Q9UQN3	IntAct
P40337	Q9Y266	IntAct
P40337	Q9Y2N7	HPRD
P40337	Q9Y2V2	IntAct
P40337	Q9Y376	IntAct
P40337	Q9Y3A3	IntAct
P40337	Q9Y3B4	IntAct
P40337	Q9Y3C8	IntAct
P40337	Q9Y3D3	IntAct
P40337	Q9Y3D9	IntAct
P40337	Q9Y4L1	IntAct
P40337	Q9Y547	IntAct
P40337	Q9Y5B9	IntAct
P40337	Q9Y5M8	IntAct
P40337	Q9Y6W3	IntAct

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction