BMRB: 34822

Structural characterization of PHOX2B and its DNA interactions shed lights into the molecular basis of the + 7Ala variant pathogenicity in CCHS

Authors

Russo, L., Diana, D., Fattorusso, R.

Assembly

Paired mesoderm homeobox protein 2B

Entity

1. Paired mesoderm homeobox protein 2B (polymer), 63 monomers, 7726.682 Da Detail

ASQRRIRTTF TSAQLKELER VFAETHYPDI YTREELALKI DLTEARVQVW FQNRRAKFRK QER

Formula weight

7726.682 Da

Source organism

Homo sapiens

Exptl. method

solution NMR

Data set

assigned_chemical_shifts

Chemcal Shifts

¹H: 112, ¹³C: 177, ¹⁵N: 57 assignments Detail

Download

• NMR-STAR v3.1 (partial)
• BMRB/XML (partial)
• CSV
• TSV

ID	Entity ID	Seq ID	Comp ID	Atom ID	Atom type	Val	Val err	Ambig. code
1	1	2	SER	H	H	8.682	0.000	1
2	1	2	SER	C	C	174.690	0.000	1
3	1	2	SER	CA	C	58.870	0.000	1
4	1	2	SER	CB	C	63.985	0.000	1
5	1	2	SER	N	N	114.229	0.000	1
6	1	3	GLN	H	H	8.323	0.000	1
7	1	3	GLN	HA	H	4.380	0.000	1
8	1	3	GLN	C	C	174.075	0.000	1
9	1	3	GLN	CA	C	55.037	0.000	1
10	1	3	GLN	CB	C	31.237	0.000	1
11	1	3	GLN	N	N	123.188	0.000	1
12	1	4	ARG	H	H	8.155	0.000	1
13	1	4	ARG	HA	H	4.466	0.000	1
14	1	4	ARG	C	C	174.420	0.000	1
15	1	4	ARG	CA	C	55.284	0.000	1
16	1	4	ARG	CB	C	31.971	0.000	1
17	1	4	ARG	N	N	120.133	0.000	1
18	1	5	ARG	H	H	8.180	0.000	1
19	1	5	ARG	HA	H	4.904	0.000	1
20	1	5	ARG	CA	C	55.733	0.000	1
21	1	5	ARG	CB	C	30.999	0.000	1
22	1	5	ARG	N	N	122.620	0.000	1
23	1	6	ILE	HA	H	4.379	0.000	1
24	1	6	ILE	C	C	174.358	0.000	1
25	1	6	ILE	CA	C	60.221	0.000	1
26	1	6	ILE	CB	C	39.224	0.000	1
27	1	7	ARG	H	H	7.691	0.000	1
28	1	7	ARG	HA	H	4.379	0.000	1
29	1	7	ARG	C	C	175.550	0.000	1
30	1	7	ARG	CA	C	55.243	0.000	1
31	1	7	ARG	CB	C	31.700	0.000	1
32	1	7	ARG	N	N	119.986	0.000	1
33	1	8	THR	H	H	8.391	0.000	1
34	1	8	THR	HA	H	4.418	0.000	1
35	1	8	THR	C	C	173.997	0.000	1
36	1	8	THR	CA	C	61.684	0.000	1
37	1	8	THR	CB	C	71.166	0.000	1
38	1	8	THR	N	N	117.991	0.000	1
39	1	9	THR	H	H	9.380	0.000	1
40	1	9	THR	C	C	173.852	0.000	1
41	1	9	THR	CA	C	61.826	0.000	1
42	1	9	THR	CB	C	70.910	0.000	1
43	1	9	THR	N	N	114.342	0.000	1
44	1	10	PHE	H	H	8.305	0.000	1
45	1	10	PHE	HA	H	4.918	0.000	1
46	1	10	PHE	C	C	175.467	0.000	1
47	1	10	PHE	CA	C	56.947	0.000	1
48	1	10	PHE	CB	C	41.275	0.000	1
49	1	10	PHE	N	N	121.667	0.000	1
50	1	11	THR	H	H	9.043	0.000	1
51	1	11	THR	HA	H	4.459	0.000	1
52	1	11	THR	C	C	173.898	0.000	1
53	1	11	THR	CA	C	61.344	0.000	1
54	1	11	THR	CB	C	70.950	0.000	1
55	1	11	THR	N	N	113.300	0.000	1
56	1	13	ALA	C	C	180.637	0.000	1
57	1	13	ALA	CA	C	55.037	0.000	1
58	1	13	ALA	CB	C	18.424	0.000	1
59	1	14	GLN	H	H	7.706	0.000	1
60	1	14	GLN	HA	H	4.044	0.000	1
61	1	14	GLN	C	C	177.600	0.000	1
62	1	14	GLN	CA	C	58.740	0.000	1
63	1	14	GLN	CB	C	29.255	0.000	1
64	1	14	GLN	N	N	117.330	0.000	1
65	1	15	LEU	H	H	7.758	0.000	1
66	1	15	LEU	HA	H	4.246	0.000	1
67	1	15	LEU	CA	C	58.149	0.000	1
68	1	15	LEU	CB	C	39.033	0.000	1
69	1	15	LEU	N	N	107.346	0.000	1
70	1	16	LYS	H	H	8.451	0.000	1
71	1	16	LYS	HA	H	3.858	0.000	1
72	1	16	LYS	C	C	177.578	0.000	1
73	1	16	LYS	CA	C	59.710	0.000	1
74	1	16	LYS	CB	C	30.945	0.000	1
75	1	16	LYS	N	N	118.900	0.000	1
76	1	17	GLU	H	H	8.291	0.000	1
77	1	17	GLU	HA	H	3.791	0.000	1
78	1	17	GLU	C	C	178.108	0.000	1
79	1	17	GLU	CA	C	57.732	0.000	1
80	1	17	GLU	CB	C	29.740	0.000	1
81	1	17	GLU	N	N	117.483	0.000	1
82	1	18	LEU	H	H	7.863	0.000	1
83	1	18	LEU	HA	H	3.471	0.000	1
84	1	18	LEU	C	C	178.133	0.000	1
85	1	18	LEU	CA	C	58.616	0.000	1
86	1	18	LEU	CB	C	39.984	0.000	1
87	1	18	LEU	N	N	121.350	0.000	1
88	1	19	GLU	H	H	8.211	0.000	1
89	1	19	GLU	HA	H	4.160	0.000	1
90	1	19	GLU	C	C	179.811	0.000	1
91	1	19	GLU	CA	C	58.740	0.000	1
92	1	19	GLU	CB	C	28.651	0.000	1
93	1	19	GLU	N	N	115.455	0.000	1
94	1	20	ARG	H	H	7.754	0.000	1
95	1	20	ARG	HA	H	4.031	0.000	1
96	1	20	ARG	C	C	178.689	0.000	1
97	1	20	ARG	CA	C	59.645	0.000	1
98	1	20	ARG	CB	C	29.236	0.000	1
99	1	20	ARG	N	N	122.142	0.000	1
100	1	21	VAL	CA	C	66.845	0.000	1
101	1	21	VAL	CB	C	31.660	0.000	1
102	1	22	PHE	H	H	8.860	0.000	1
103	1	22	PHE	HA	H	4.419	0.000	1
104	1	22	PHE	C	C	175.555	0.000	1
105	1	22	PHE	CA	C	61.126	0.000	1
106	1	22	PHE	CB	C	38.993	0.000	1
107	1	22	PHE	N	N	122.046	0.000	1
108	1	23	ALA	H	H	7.778	0.000	1
109	1	23	ALA	HA	H	4.098	0.000	1
110	1	23	ALA	C	C	179.243	0.000	1
111	1	23	ALA	CA	C	53.885	0.000	1
112	1	23	ALA	CB	C	17.766	0.000	1
113	1	23	ALA	N	N	115.889	0.000	1
114	1	24	GLU	H	H	7.726	0.000	1
115	1	24	GLU	HA	H	4.305	0.000	1
116	1	24	GLU	C	C	176.986	0.000	1
117	1	24	GLU	CA	C	58.029	0.000	1
118	1	24	GLU	CB	C	29.496	0.000	1
119	1	24	GLU	N	N	118.086	0.000	1
120	1	25	THR	H	H	8.945	0.000	1
121	1	25	THR	HA	H	4.312	0.000	1
122	1	25	THR	C	C	172.636	0.000	1
123	1	25	THR	CA	C	61.439	0.000	1
124	1	25	THR	CB	C	69.922	0.000	1
125	1	25	THR	N	N	115.614	0.000	1
126	1	26	HIS	H	H	8.467	0.000	1
127	1	26	HIS	HA	H	4.730	0.000	1
128	1	26	HIS	C	C	17.284	0.000	1
129	1	26	HIS	CA	C	54.379	0.000	1
130	1	26	HIS	CB	C	29.740	0.000	1
131	1	26	HIS	N	N	122.221	0.000	1
132	1	27	TYR	H	H	8.185	0.000	1
133	1	27	TYR	CA	C	55.201	0.000	1
134	1	27	TYR	N	N	115.373	0.000	1
135	1	28	PRO	C	C	175.135	0.000	1
136	1	28	PRO	CA	C	62.237	0.000	1
137	1	28	PRO	CB	C	32.999	0.000	1
138	1	29	ASP	H	H	8.678	0.000	1
139	1	29	ASP	HA	H	4.505	0.000	1
140	1	29	ASP	C	C	176.196	0.000	1
141	1	29	ASP	CA	C	52.774	0.000	1
142	1	29	ASP	CB	C	41.110	0.000	1
143	1	29	ASP	N	N	123.854	0.000	1
144	1	30	ILE	H	H	8.508	0.000	1
145	1	30	ILE	HA	H	3.951	0.000	1
146	1	30	ILE	C	C	178.196	0.000	1
147	1	30	ILE	CA	C	62.129	0.000	1
148	1	30	ILE	CB	C	37.768	0.000	1
149	1	30	ILE	N	N	118.339	0.000	1
150	1	31	TYR	H	H	6.950	0.000	1
151	1	31	TYR	HA	H	4.480	0.000	1
152	1	31	TYR	C	C	177.935	0.000	1
153	1	31	TYR	CA	C	60.468	0.000	1
154	1	31	TYR	CB	C	36.952	0.000	1
155	1	31	TYR	N	N	121.603	0.000	1
156	1	32	THR	H	H	8.446	0.000	1
157	1	32	THR	HA	H	3.871	0.000	1
158	1	32	THR	C	C	177.269	0.000	1
159	1	32	THR	CA	C	64.742	0.000	1
160	1	32	THR	CB	C	67.421	0.000	1
161	1	32	THR	N	N	118.706	0.000	1
162	1	33	ARG	H	H	8.618	0.000	1
163	1	33	ARG	HA	H	3.800	0.000	1
164	1	33	ARG	C	C	177.935	0.000	1
165	1	33	ARG	CA	C	60.290	0.000	1
166	1	33	ARG	CB	C	30.812	0.000	1
167	1	33	ARG	N	N	119.892	0.000	1
168	1	34	GLU	H	H	8.722	0.000	1
169	1	34	GLU	HA	H	3.924	0.000	1
170	1	34	GLU	C	C	178.972	0.000	1
171	1	34	GLU	CA	C	59.768	0.000	1
172	1	34	GLU	CB	C	29.876	0.000	1
173	1	34	GLU	N	N	119.195	0.000	1
174	1	35	GLU	H	H	8.059	0.000	1
175	1	35	GLU	HA	H	3.884	0.000	1
176	1	35	GLU	C	C	180.329	0.000	1
177	1	35	GLU	CA	C	59.316	0.000	1
178	1	35	GLU	CB	C	29.740	0.000	1
179	1	35	GLU	N	N	120.289	0.000	1
180	1	36	LEU	H	H	8.043	0.000	1
181	1	36	LEU	HA	H	4.031	0.000	1
182	1	36	LEU	C	C	177.590	0.000	1
183	1	36	LEU	CA	C	57.670	0.000	1
184	1	36	LEU	CB	C	42.777	0.000	1
185	1	36	LEU	N	N	121.001	0.000	1
186	1	37	ALA	H	H	8.379	0.000	1
187	1	37	ALA	HA	H	3.964	0.000	1
188	1	37	ALA	C	C	179.379	0.000	1
189	1	37	ALA	CA	C	55.777	0.000	1
190	1	37	ALA	CB	C	17.221	0.000	1
191	1	37	ALA	N	N	119.760	0.000	1
192	1	38	LEU	H	H	7.603	0.000	1
193	1	38	LEU	HA	H	4.205	0.000	1
194	1	38	LEU	C	C	179.885	0.000	1
195	1	38	LEU	CA	C	57.135	0.000	1
196	1	38	LEU	CB	C	42.395	0.000	1
197	1	38	LEU	N	N	115.487	0.000	1
198	1	39	LYS	H	H	7.861	0.000	1
199	1	39	LYS	HA	H	4.130	0.000	1
200	1	39	LYS	C	C	179.256	0.000	1
201	1	39	LYS	CA	C	59.110	0.000	1
202	1	39	LYS	CB	C	32.468	0.000	1
203	1	39	LYS	N	N	119.331	0.000	1
204	1	40	ILE	H	H	7.872	0.000	1
205	1	40	ILE	HA	H	3.978	0.000	1
206	1	40	ILE	C	C	178.034	0.000	1
207	1	40	ILE	CA	C	62.968	0.000	1
208	1	40	ILE	CB	C	38.773	0.000	1
209	1	40	ILE	N	N	119.517	0.000	1
210	1	41	ASP	H	H	8.422	0.000	1
211	1	41	ASP	HA	H	4.277	0.000	1
212	1	41	ASP	C	C	177.465	0.000	1
213	1	41	ASP	CA	C	55.480	0.000	1
214	1	41	ASP	CB	C	40.325	0.000	1
215	1	41	ASP	N	N	119.035	0.000	1
216	1	42	LEU	H	H	7.040	0.000	1
217	1	42	LEU	HA	H	4.458	0.000	1
218	1	42	LEU	C	C	177.145	0.000	1
219	1	42	LEU	CA	C	52.876	0.000	1
220	1	42	LEU	CB	C	42.714	0.000	1
221	1	42	LEU	N	N	118.086	0.000	1
222	1	43	THR	H	H	7.964	0.000	1
223	1	43	THR	HA	H	4.804	0.000	1
224	1	43	THR	C	C	173.949	0.000	1
225	1	43	THR	CA	C	61.600	0.000	1
226	1	43	THR	CB	C	70.959	0.000	1
227	1	43	THR	N	N	117.198	0.000	1
228	1	44	GLU	H	H	9.369	0.000	1
229	1	44	GLU	HA	H	4.350	0.000	1
230	1	44	GLU	C	C	175.874	0.000	1
231	1	44	GLU	CA	C	56.085	0.000	1
232	1	44	GLU	CB	C	31.243	0.000	1
233	1	44	GLU	N	N	124.210	0.000	1
234	1	45	ALA	H	H	8.339	0.000	1
235	1	45	ALA	HA	H	3.970	0.000	1
236	1	45	ALA	C	C	180.798	0.000	1
237	1	45	ALA	CA	C	54.164	0.000	1
238	1	45	ALA	CB	C	18.582	0.000	1
239	1	45	ALA	N	N	119.756	0.000	1
240	1	46	ARG	H	H	7.626	0.000	1
241	1	46	ARG	HA	H	4.058	0.000	1
242	1	46	ARG	C	C	179.663	0.000	1
243	1	46	ARG	CA	C	58.822	0.000	1
244	1	46	ARG	CB	C	30.284	0.000	1
245	1	46	ARG	N	N	117.248	0.000	1
246	1	47	VAL	H	H	8.097	0.000	1
247	1	47	VAL	HA	H	3.664	0.000	1
248	1	47	VAL	C	C	177.479	0.000	1
249	1	47	VAL	CA	C	65.297	0.000	1
250	1	47	VAL	CB	C	31.895	0.000	1
251	1	47	VAL	N	N	120.843	0.000	1
252	1	48	GLN	H	H	8.844	0.000	1
253	1	48	GLN	HA	H	3.670	0.000	1
254	1	48	GLN	C	C	178.589	0.000	1
255	1	48	GLN	CA	C	57.809	0.000	1
256	1	48	GLN	CB	C	28.651	0.000	1
257	1	48	GLN	N	N	120.191	0.000	1
258	1	49	VAL	H	H	7.922	0.000	1
259	1	49	VAL	HA	H	3.777	0.000	1
260	1	49	VAL	C	C	177.812	0.000	1
261	1	49	VAL	CA	C	66.476	0.000	1
262	1	49	VAL	CB	C	32.196	0.000	1
263	1	49	VAL	N	N	119.226	0.000	1
264	1	50	TRP	H	H	8.215	0.000	1
265	1	50	TRP	HA	H	4.060	0.000	1
266	1	50	TRP	C	C	179.650	0.000	1
267	1	50	TRP	CA	C	61.244	0.000	1
268	1	50	TRP	CB	C	28.356	0.000	1
269	1	50	TRP	N	N	121.191	0.000	1
270	1	51	PHE	H	H	8.780	0.000	1
271	1	51	PHE	HA	H	3.970	0.000	1
272	1	51	PHE	C	C	177.898	0.000	1
273	1	51	PHE	CB	C	38.238	0.000	1
274	1	51	PHE	N	N	118.402	0.000	1
275	1	52	GLN	H	H	8.438	0.000	1
276	1	52	GLN	HA	H	3.791	0.000	1
277	1	52	GLN	C	C	179.342	0.000	1
278	1	52	GLN	CA	C	59.521	0.000	1
279	1	52	GLN	CB	C	28.274	0.000	1
280	1	52	GLN	N	N	118.941	0.000	1
281	1	53	ASN	H	H	8.261	0.000	1
282	1	53	ASN	HA	H	4.205	0.000	1
283	1	53	ASN	C	C	177.171	0.000	1
284	1	53	ASN	CA	C	55.366	0.000	1
285	1	53	ASN	CB	C	37.904	0.000	1
286	1	53	ASN	N	N	118.529	0.000	1
287	1	54	ARG	H	H	8.276	0.000	1
288	1	54	ARG	HA	H	4.136	0.000	1
289	1	54	ARG	C	C	179.367	0.000	1
290	1	54	ARG	CA	C	59.271	0.000	1
291	1	54	ARG	CB	C	28.515	0.000	1
292	1	54	ARG	N	N	123.707	0.000	1
293	1	55	ARG	H	H	8.059	0.000	1
294	1	55	ARG	HA	H	4.120	0.000	1
295	1	55	ARG	C	C	178.121	0.000	1
296	1	55	ARG	CA	C	59.809	0.000	1
297	1	55	ARG	CB	C	30.509	0.000	1
298	1	55	ARG	N	N	117.612	0.000	1
299	1	56	ALA	H	H	7.331	0.000	1
300	1	56	ALA	HA	H	4.058	0.000	1
301	1	56	ALA	C	C	179157	0.000	1
302	1	56	ALA	CA	C	54.379	0.000	1
303	1	56	ALA	CB	C	18.174	0.000	1
304	1	56	ALA	N	N	121.159	0.000	1
305	1	57	LYS	H	H	7.448	0.000	1
306	1	57	LYS	HA	H	4.100	0.000	1
307	1	57	LYS	C	C	177.356	0.000	1
308	1	57	LYS	CA	C	57.350	0.000	1
309	1	57	LYS	CB	C	32.461	0.000	1
310	1	57	LYS	N	N	117.341	0.000	1
311	1	58	PHE	H	H	7.864	0.000	1
312	1	58	PHE	HA	H	4.539	0.000	1
313	1	58	PHE	C	C	175.900	0.000	1
314	1	58	PHE	CA	C	59.069	0.000	1
315	1	58	PHE	CB	C	39.265	0.000	1
316	1	58	PHE	N	N	120.019	0.000	1
317	1	59	ARG	H	H	7.884	0.000	1
318	1	59	ARG	HA	H	4.226	0.000	1
319	1	59	ARG	C	C	175.052	0.000	1
320	1	59	ARG	CA	C	54.395	0.000	1
321	1	59	ARG	CB	C	31.829	0.000	1
322	1	59	ARG	N	N	120.272	0.000	1
323	1	60	LYS	H	H	7.962	0.000	1
324	1	60	LYS	HA	H	4.298	0.000	1
325	1	60	LYS	C	C	177.652	0.000	1
326	1	60	LYS	CA	C	57.395	0.000	1
327	1	60	LYS	CB	C	31.781	0.000	1
328	1	60	LYS	N	N	121.951	0.000	1
329	1	61	GLN	H	H	8.222	0.000	1
330	1	61	GLN	HA	H	4.391	0.000	1
331	1	61	GLN	C	C	173.741	0.000	1
332	1	61	GLN	CA	C	55.353	0.000	1
333	1	61	GLN	CB	C	30.639	0.000	1
334	1	61	GLN	N	N	121.260	0.000	1
335	1	62	GLU	H	H	8.308	0.000	1
336	1	62	GLU	HA	H	4.524	0.000	1
337	1	62	GLU	C	C	175.567	0.000	1
338	1	62	GLU	CA	C	55.829	0.000	1
339	1	62	GLU	CB	C	32.870	0.000	1
340	1	62	GLU	N	N	121.811	0.000	1
341	1	63	ARG	H	H	7.846	0.000	1
342	1	63	ARG	HA	H	4.398	0.000	1
343	1	63	ARG	C	C	176.160	0.000	1
344	1	63	ARG	CA	C	55.382	0.000	1
345	1	63	ARG	CB	C	32.020	0.000	1
346	1	63	ARG	N	N	126.483	0.000	1

Release date

2023-09-12

Citation

Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS
Diana, D., Pirone, L., Russo, L., D'Abrosca, G., Madheswaran, M., Benfante, R., Di Lascio, S., Caldinelli, L., Fornasari, D., Acconcia, C., Corvino, A., Ventserova, N., Pollegioni, L., Isernia, C., Di Gaetano, S., Malgieri, G., Pedone, E.M., Fattorusso, R.
Chem. Sci. (2024), 15, 8858-8872, PubMed 38873078 , DOI 10.1039/d3sc06427a , Abstract

Related entities 1. Paired mesoderm homeobox protein 2B, : 1 : 11 : 296 entities Detail

Experiments performed 6 experiments Detail

Chemical shift validation 3 contents Detail