BMRB Entry 34822

Title:
Structural characterization of PHOX2B and its DNA interactions shed lights into the molecular basis of the + 7Ala variant pathogenicity in CCHS
Deposition date:
2023-05-30
Original release date:
2024-05-07
Authors:
Russo, L.; Diana, D.; Fattorusso, R.
Citation:

Citation: Diana, Donatella; Pirone, Luciano; Russo, Luigi; D'Abrosca, Gianluca; Madheswaran, Manoj; Benfante, Roberta; Di Lascio, Simona; Caldinelli, Laura; Fornasari, Diego; Acconcia, Clementina; Corvino, Andrea; Ventserova, Nataliia; Pollegioni, Loredano; Isernia, Carla; Di Gaetano, Sonia; Malgieri, Gaetano; Pedone, Emilia; Fattorusso, Roberto. "Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS"  Chem. Sci. 15, 8858-8872 (2024).
PubMed: 38873078

Assembly members:

Assembly members:
entity_1, polymer, 63 residues, 7741.804 Da.

Natural source:

Natural source:   Common Name: Human   Taxonomy ID: 9606   Superkingdom: Eukaryota   Kingdom: Metazoa   Genus/species: Homo sapiens

Experimental source:

Experimental source:   Production method: recombinant technology   Host organism: Escherichia coli 'BL21-Gold(DE3)pLysS AG'

Entity Sequences (FASTA):

Data sets:
Data typeCount
13C chemical shifts177
15N chemical shifts57
1H chemical shifts112

Additional metadata:

  • Assembly
  • Samples and Experiments
  • Software
  • Spectrometers
  • Hide all

Assembly:

Entity Assembly IDEntity NameEntity ID
1unit_11

Entities:

Entity 1, unit_1 63 residues - 7741.804 Da.

1   ALASERGLNARGARGILEARGTHRTHRPHE
2   THRSERALAGLNLEULYSGLULEUGLUARG
3   VALPHEALAGLUTHRHISTYRPROASPILE
4   TYRTHRARGGLUGLULEUALALEULYSILE
5   ASPLEUTHRGLUALAARGVALGLNVALTRP
6   PHEGLNASNARGARGALALYSPHEARGLYS
7   GLNGLUARG

Samples:

sample_1: Paired mesoderm homeobox protein 2B (Phox2B), [U-13C; U-15N], 0.1 mM

sample_conditions_1: ionic strength: 200 mM; pH: 7.4; pressure: 1 atm; temperature: 298 K

Experiments:

NameSampleSample stateSample conditions
2D 1H-13C HSQCsample_1isotropicsample_conditions_1
2D 1H-15N HSQCsample_1isotropicsample_conditions_1
3D HNCAsample_1isotropicsample_conditions_1
3D CBCA(CO)NHsample_1isotropicsample_conditions_1
3D HNCOsample_1isotropicsample_conditions_1
3D HNHAsample_1isotropicsample_conditions_1

Software:

CARA, Keller and Wuthrich - chemical shift assignment, peak picking

Sparky, Goddard - chemical shift assignment

CS-ROSETTA, Shen, Vernon, Baker and Bax - refinement, structure calculation

NMR spectrometers:

  • Bruker AVANCE III HD 600 MHz

Download HSQC peak lists in one of the following formats:
CSV: Backbone or all simulated peaks
SPARKY: Backbone or all simulated peaks