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METAP1D methionyl aminopeptidase type 1D, mitochondrial [ Homo sapiens (human) ]

Gene ID: 254042, updated on 24-Nov-2020

Summary

Official Symbol
METAP1Dprovided by HGNC
Official Full Name
methionyl aminopeptidase type 1D, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:32583
See related
Ensembl:ENSG00000172878 MIM:610267
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MAP1D; MAP 1D; Metap1l; MetAP 1D
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]
Expression
Ubiquitous expression in ovary (RPKM 4.2), endometrium (RPKM 2.3) and 25 other tissues See more
Orthologs

Genomic context

See METAP1D in Genome Data Viewer
Location:
2q31.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (171999953..172082430)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172864804..172947158)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene histone acetyltransferase 1 Neighboring gene VISTA enhancer hs646 Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene VISTA enhancer hs553 Neighboring gene VISTA enhancer hs422 Neighboring gene distal-less homeobox 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
metalloaminopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metalloexopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
N-terminal protein amino acid modification TAS
Traceable Author Statement
more info
PubMed 
peptidyl-methionine modification TAS
Traceable Author Statement
more info
PubMed 
protein initiator methionine removal IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
methionine aminopeptidase 1D, mitochondrial
Names
CDS of metAP-3 within PCR fragment
metAP 1D
peptidase M 1D
NP_001309207.1
NP_001309208.1
NP_954697.1
XP_016859239.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001322278.2NP_001309207.1  methionine aminopeptidase 1D, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015976, BC143913, BM982111
    UniProtKB/Swiss-Prot
    Q6UB28
    Conserved Domains (1) summary
    cd01086
    Location:1212
    MetAP1; Methionine Aminopeptidase 1. E.C. 3.4.11.18. Also known as methionyl aminopeptidase and Peptidase M. Catalyzes release of N-terminal amino acids, preferentially methionine, from peptides and arylamides.
  2. NM_001322279.2NP_001309208.1  methionine aminopeptidase 1D, mitochondrial isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC015976, AC114745, AY374142, BM982111
    UniProtKB/Swiss-Prot
    Q6UB28
    Conserved Domains (1) summary
    cd01086
    Location:1212
    MetAP1; Methionine Aminopeptidase 1. E.C. 3.4.11.18. Also known as methionyl aminopeptidase and Peptidase M. Catalyzes release of N-terminal amino acids, preferentially methionine, from peptides and arylamides.
  3. NM_199227.3NP_954697.1  methionine aminopeptidase 1D, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_954697.1

    Status: VALIDATED

    Source sequence(s)
    AC015976, AY374142, BM982111
    Consensus CDS
    CCDS2246.1
    UniProtKB/Swiss-Prot
    Q6UB28
    Related
    ENSP00000315152.4, ENST00000315796.5
    Conserved Domains (1) summary
    cd01086
    Location:94330
    MetAP1; Methionine Aminopeptidase 1. E.C. 3.4.11.18. Also known as methionyl aminopeptidase and Peptidase M. Catalyzes release of N-terminal amino acids, preferentially methionine, from peptides and arylamides.

RNA

  1. NR_136273.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC015976, AC114745, BM982111
  2. NR_136276.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC015976, AY374142, BM982111

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    171999953..172082430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003750.2XP_016859239.1  methionine aminopeptidase 1D, mitochondrial isoform X1

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