PiSITE

PDB ID	3FX0	CHAIN	A
Protein name	NF-kappa-B essential modulator
Uniprot Accession	Q9Y6K9
The number of similar proteins	18
The number of binding states	6
The number of binding partners	4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	3FX0 (CHAIN: A)
1	Q9Y6K9
2	O88522 P62988
3	O88522 Q96EP0
4	D3DWY0 6XX0 6XX0
5	O88522 Q96C32 Q96C32
6	Q9Y6K9 Q96EP0 P0CG48 P0CG48

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Molecule viewer

Only interaction residues

#binding
partners

	4
	3
	2
	1
	0

Sequence information

1

GSHMKSSVVG

SERKRGMQLE

DLKQQLQQAE

EALVAKQEVI

DKLKEEAEQH

50

51

KIVMETVPVL

KAQADIYKAD

FQAERQAREK

LAEKKELLQE

QLEQLQ

100

Variants

	Residue	AA	Source / dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	AlphaMissense pathogenicity	Disease name
	288_ALA	GLY	VAR_011322 rs137853330	LP/P	-	0.293	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
	288_ALA	GLY	ClinVar chrX:153791119 rs137853330	Pathogenic	-	0.293	Ectodermal dysplasia and immunodeficiency 1 [MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813]
	290_GLN	TER	ClinVar chrX:153791124 rs1156900338	Pathogenic	-	-	not provided [MedGen:CN517202]
	311_ASP	ASN	VAR_011323 rs179363867	LP/P	-	0.9818	Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291]
	311_ASP	ASN	ClinVar chrX:153791792 rs179363867	Likely pathogenic	-	0.9818	not provided\|Ectodermal dysplasia and immunodeficiency 1 [MedGen:CN517202\|MONDO:MONDO:0020740,MedGen:C1846008,OMIM:300291,Orphanet:238468,Orphanet:98813]
	312_PHE	LEU	ClinVar chrX:153791797 rs2148385082	Likely pathogenic	-	0.999	not provided [MedGen:C3661900]
	314_ALA	PRO	VAR_072606 -	LP/P	-	0.9969	Incontinentia pigmenti (IP) [MIM:308300]
	315_GLU	ALA	VAR_031959 rs137853331	LP/P	-	0.9527	Immunodeficiency 33 (IMD33) [MIM:300636]
	315_GLU	ALA	ClinVar chrX:153791805 rs137853331	Pathogenic	-	0.9527	Immunodeficiency 33 [MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612]
	319_ARG	GLN	VAR_031960 rs137853332	LP/P	-	0.7398	Immunodeficiency 33 (IMD33) [MIM:300636]
	319_ARG	GLN	ClinVar chrX:153791817 rs137853332	Pathogenic	-	0.7398	Immunodeficiency 33 [MONDO:MONDO:0010386,MedGen:C1970879,OMIM:300636,Orphanet:319605,Orphanet:319612]
	322_LEU	PRO	VAR_072607 -	LP/P	-	0.9914	Incontinentia pigmenti (IP) [MIM:308300]
	323_ALA	PRO	VAR_042666 rs179363865	LP/P	-	0.9631	Incontinentia pigmenti (IP) [MIM:308300]

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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364