LongevityMap Gene

Gene details

HGNC symbol
MBD1 
Aliases
RFT; PCM1; CXXC3 
Common name
methyl-CpG binding domain protein 1 
Description
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]
Cytogenetic Location
18q21.1
UCSC Genome Browser
View 18q21.1 on the UCSC genome browser
OMIM
156535
Ensembl
ENSG00000141644
UniProt/Swiss-Prot
A8K654_HUMAN
Entrez Gene
4152
UniGene
405610
1000 Genomes
1000 Genomes

Homologs in model organisms

Mus musculus
Mbd1
Rattus norvegicus
Mbd1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier
rs125555
Reference