Results for the protein: O43586

Results for the Protein: O43586

74739557

9051

PSTPIP1

NCBI, UniProt

PPIP1_HUMAN RecName: Full=Proline-serine-threonine phosphatase-interacting protein 1; Short=PEST phosphatase-interacting protein 1; AltName: Full=CD2-binding protein 1; AltName: Full=H-PIP

Known Diseases associated with this Protein:
PAPA SYNDROME (PAPAS)
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE

4

7

2

0

9

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Swiss-Prot Protein: O43586

Identical to: NP_003969

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
F-BAR_PSTPIP	cd07647	1.5e-153	16	254
F-BAR_GAS7	cd07649	6.8e-05	16	251
F-BAR_NOSTRIN	cd07658	6.7e-07	16	236
F-BAR_PSTPIP1	cd07671	4.6e-169	16	257
F-BAR_PACSIN2	cd07679	0.00024	16	257
F-BAR_PSTPIP2	cd07672	1.1e-100	16	254
F-BAR_PACSIN3	cd07681	0.00092	16	257
F-BAR_FCHO1	cd07674	3e-06	17	286
F-BAR_FCHO	cd07648	6.4e-12	19	286
FCH_F-BAR	cd07610	2.8e-66	21	254
F-BAR_PombeCdc15_lik	cd07651	4.1e-10	21	254
F-BAR_PACSIN	cd07655	6.7e-05	27	257
SH3	cd00174	1.4e-23	363	415
FCH	pfam00611	1.2e-25	9	98
SH3_1	pfam00018	2.6e-18	365	410
FCH	smart00055	4.9e-26	12	94
SH3	smart00326	2.3e-24	360	416
SH3_2	pfam07653	1.8e-13	363	415

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023519	Polymorphism	p.ALA151SER	N/A
Swiss-Prot	VAR_023522	Disease	p.ALA230THR	PAPA syndrome (PAPAS)
Swiss-Prot	VAR_023518	Polymorphism	p.ARG149LEU	N/A
Swiss-Prot	VAR_023517	Polymorphism	p.GLN146HIS	N/A
Swiss-Prot	VAR_023521	Polymorphism	p.GLN156HIS	N/A
Swiss-Prot	VAR_023515	Polymorphism	p.GLN48HIS	N/A
Swiss-Prot	VAR_023520	Polymorphism	p.GLU155ASP	N/A
Swiss-Prot	VAR_023523	Disease	p.GLU250GLN	PAPA syndrome (PAPAS)
Swiss-Prot	VAR_023516	Polymorphism	p.GLU106LYS	N/A
OMIM	606347.0002	Disease	p.ALA230THR	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
OMIM	606347.0001	Disease	p.GLU250GLN	PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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