PMID- 35268848
OWN - NLM
STAT- MEDLINE
DCOM- 20220323
LR  - 20220323
IS  - 1420-3049 (Electronic)
IS  - 1420-3049 (Linking)
VI  - 27
IP  - 5
DP  - 2022 Mar 7
TI  - Investigating the Effects of Amino Acid Variations in Human Menin.
LID - 10.3390/molecules27051747 [doi]
LID - 1747
AB  - Human menin is a nuclear protein that participates in many cellular processes, as 
      transcriptional regulation, DNA damage repair, cell signaling, cell division, 
      proliferation, and migration, by interacting with many other proteins. Mutations 
      of the gene encoding menin cause multiple endocrine neoplasia type 1 (MEN1), a 
      rare autosomal dominant disorder associated with tumors of the endocrine glands. 
      In order to characterize the structural and functional effects at protein level 
      of the hundreds of missense variations, we investigated by computational methods 
      the wild-type menin and more than 200 variants, predicting the amino acid 
      variations that change secondary structure, solvent accessibility, salt-bridge 
      and H-bond interactions, protein thermostability, and altering the capability to 
      bind known protein interactors. The structural analyses are freely accessible 
      online by means of a web interface that integrates also a 3D visualization of the 
      structure of the wild-type and variant proteins. The results of the study offer 
      insight into the effects of the amino acid variations in view of a more complete 
      understanding of their pathological role.
FAU - Biancaniello, Carmen
AU  - Biancaniello C
AD  - Dipartimento di Scienze Aziendali, Management and Innovation Systems, Universita 
      degli Studi di Salerno, 84084 Fisciano, Italy.
FAU - D'Argenio, Antonia
AU  - D'Argenio A
AD  - National Research Council, Institute of Food Science, 83100 Avellino, Italy.
FAU - Giordano, Deborah
AU  - Giordano D
AD  - National Research Council, Institute of Food Science, 83100 Avellino, Italy.
FAU - Dotolo, Serena
AU  - Dotolo S
AUID- ORCID: 0000-0002-9409-5463
AD  - Dipartimento di Scienze Aziendali, Management and Innovation Systems, Universita 
      degli Studi di Salerno, 84084 Fisciano, Italy.
FAU - Scafuri, Bernardina
AU  - Scafuri B
AD  - Dipartimento di Chimica e Biologia "A. Zambelli", Universita degli Studi di 
      Salerno, 84084 Fisciano, Italy.
FAU - Marabotti, Anna
AU  - Marabotti A
AUID- ORCID: 0000-0002-9510-5205
AD  - Dipartimento di Chimica e Biologia "A. Zambelli", Universita degli Studi di 
      Salerno, 84084 Fisciano, Italy.
FAU - d'Acierno, Antonio
AU  - d'Acierno A
AD  - National Research Council, Institute of Food Science, 83100 Avellino, Italy.
FAU - Tagliaferri, Roberto
AU  - Tagliaferri R
AUID- ORCID: 0000-0001-8134-9025
AD  - Dipartimento di Scienze Aziendali, Management and Innovation Systems, Universita 
      degli Studi di Salerno, 84084 Fisciano, Italy.
FAU - Facchiano, Angelo
AU  - Facchiano A
AUID- ORCID: 0000-0002-7077-4912
AD  - National Research Council, Institute of Food Science, 83100 Avellino, Italy.
LA  - eng
GR  - SURF 17061BP000000012/Regione Campania/
GR  - 2017483NH8/MIUR/
PT  - Journal Article
DEP - 20220307
PL  - Switzerland
TA  - Molecules
JT  - Molecules (Basel, Switzerland)
JID - 100964009
RN  - 0 (Amino Acids)
SB  - IM
MH  - *Amino Acids
PMC - PMC8911756
OTO - NOTNLM
OT  - human menin
OT  - missense variations
OT  - multiple endocrine neoplasia type 1 (MEN1)
OT  - protein function
OT  - protein modelling
OT  - protein structure
COIS- The authors declare no conflict of interest.
EDAT- 2022/03/11 06:00
MHDA- 2022/03/24 06:00
PMCR- 2022/03/07
CRDT- 2022/03/10 15:31
PHST- 2022/02/09 00:00 [received]
PHST- 2022/03/01 00:00 [revised]
PHST- 2022/03/04 00:00 [accepted]
PHST- 2022/03/10 15:31 [entrez]
PHST- 2022/03/11 06:00 [pubmed]
PHST- 2022/03/24 06:00 [medline]
PHST- 2022/03/07 00:00 [pmc-release]
AID - molecules27051747 [pii]
AID - molecules-27-01747 [pii]
AID - 10.3390/molecules27051747 [doi]
PST - epublish
SO  - Molecules. 2022 Mar 7;27(5):1747. doi: 10.3390/molecules27051747.