ELM - instance LIG_HCF-1_HBM_1 in sequence Q9NVV9 at position 134

ELM

The Eukaryotic Linear Motif resource for

Functional Sites in Proteins

o Instance

Accession	Acc. Gene-, Name	Start	End	Subsequence	Logic	PDB	Organism	Length
ELMI001531	Q9NVV9 THAP1 THAP1_HUMAN	134	137	PVNLSVFCDHNYTVEDTMHQ	TP	---	Homo sapiens (Human)	213

o Instance evidence

Evidence class	PSI-MI	Method	BioSource	PubMed	Logic	Reliability	Notes
experimental	MI:0096	pull down	in vivo/in vitro	support	certain	InteractionDetection
experimental	MI:0519	glutathione s tranferase tag	in vitro	Mazars,2010	support	certain
experimental	MI:0018	two hybrid	in vivo	Mazars,2010	support	certain	InteractionDetection
experimental	MI:0019	coimmunoprecipitation	in vivo/in vitro	Mazars,2010	support	certain	InteractionDetection

o Interactions

Uniprot Id	Domain family	Domain Start	Domain End	Affinity Min/Max (µMol)
(P51610) HCFC1_HUMAN	PF13415 (Kelch_3) Galactose oxidase, central domain	91	145	[mitab] [xml]
(P51610) HCFC1_HUMAN	PF13415 (Kelch_3) Galactose oxidase, central domain	146	208	[mitab] [xml]
(P51610) HCFC1_HUMAN	PF13415 (Kelch_3) Galactose oxidase, central domain	215	263	[mitab] [xml]
(P51610) HCFC1_HUMAN	PF13415 (Kelch_3) Galactose oxidase, central domain	264	330	[mitab] [xml]

o Diseases

Sequence Variation VAR_066700 (Pos 137) has been implicated in Dystonia 6, Torsion; Dyt6 (O MIM:602629 ).
Sequence Variation VAR_066699 (Pos 136) has been implicated in Dystonia 6, Torsion; Dyt6 (O MIM:602629 ).
Sequence Variation VAR_065886 (Pos 136) has been implicated in Dystonia 6, Torsion; Dyt6 (O MIM:602629 ).

Please cite: ELM-the Eukaryotic Linear Motif resource-2024 update. (PMID:37962385)

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