Gene: METAP1D

Alternate names for this Gene: MAP 1D|MAP1D|MetAP 1D|Metap1l

Gene Summary: The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803617.138718.1, SRR1803611.97857.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000315796.5/ ENSP00000315152.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END##

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: methionyl aminopeptidase type 1D, mitochondrial

Type of Gene: protein-coding

rs7606918 in METAP1D gene and Age at menopause PMID 22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

rs10930502 in METAP1D gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs16859965 in METAP1D gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs10930502 in METAP1D gene and body fat percentage (physical finding) PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs34636594 in METAP1D gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.