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

    Gene ID: 254042, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:32583
    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
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    Genomic context

    See METAP1D in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171999953..172082430)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (172486172..172568673)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172864860..172947158)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene histone acetyltransferase 1 Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene uncharacterized LOC124905590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16761 Neighboring gene VISTA enhancer hs553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172945060-172945588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172945589-172946118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172948655-172949268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172949269-172949880 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172949881-172950494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172950495-172951106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172951721-172952332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:172952946-172953557 Neighboring gene VISTA enhancer hs422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12109 Neighboring gene distal-less homeobox 1 Neighboring gene distal-less homeobox 2

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables initiator methionyl aminopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloexopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in N-terminal protein amino acid modification TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peptidyl-methionine modification TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 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_047299826.1
    XP_047299827.1
    XP_047299828.1
    XP_054188845.1
    XP_054188846.1
    XP_054188847.1
    XP_054197245.1
    XP_054197246.1
    XP_054197247.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      Q1WNX3, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047443870.1XP_047299826.1  methionine aminopeptidase 1D, mitochondrial isoform X1

    2. XM_047443871.1XP_047299827.1  methionine aminopeptidase 1D, mitochondrial isoform X2

    3. XM_047443872.1XP_047299828.1  methionine aminopeptidase 1D, mitochondrial isoform X3

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791761.1 Reference GRCh38.p14 PATCHES

      Range
      439003..521197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332870.1XP_054188845.1  methionine aminopeptidase 1D, mitochondrial isoform X1

    2. XM_054332871.1XP_054188846.1  methionine aminopeptidase 1D, mitochondrial isoform X2

    3. XM_054332872.1XP_054188847.1  methionine aminopeptidase 1D, mitochondrial isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      172486172..172568673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341270.1XP_054197245.1  methionine aminopeptidase 1D, mitochondrial isoform X1

    2. XM_054341271.1XP_054197246.1  methionine aminopeptidase 1D, mitochondrial isoform X2

    3. XM_054341272.1XP_054197247.1  methionine aminopeptidase 1D, mitochondrial isoform X3