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    METAP1 methionyl aminopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 23173, updated on 10-Dec-2024

    Summary

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    Official Symbol
    METAP1provided by HGNC
    Official Full Name
    methionyl aminopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:15789
    See related
    Ensembl:ENSG00000164024 MIM:610151; AllianceGenome:HGNC:15789
    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
    MAP1A; MetAP1A
    Summary
    Enables aminopeptidase activity. Involved in protein maturation. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in esophagus (RPKM 20.9), testis (RPKM 19.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See METAP1 in Genome Data Viewer
    Location:
    4q23
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (98995721..99062809)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (102310655..102377714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (99916872..99983960)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 149 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21736 Neighboring gene NADH:ubiquinone oxidoreductase subunit S5 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15580 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:99917285-99918067 Neighboring gene uncharacterized LOC124900738 Neighboring gene microRNA 3684 Neighboring gene activator of basal transcription 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21737 Neighboring gene ADH5 promoter Neighboring gene uncharacterized LOC100507053 Neighboring gene Sharpr-MPRA regulatory region 12553 Neighboring gene uncharacterized LOC124900739 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification, biochemical and structural evaluation of species-specific inhibitors against type I methionine aminopeptidases. Kishor C, et al. J Med Chem, 2013 Jul 11. PMID 23767698
    2. Elucidation of the function of type 1 human methionine aminopeptidase during cell cycle progression. Hu X, et al. Proc Natl Acad Sci U S A, 2006 Nov 28. PMID 17114291, Free PMC Article
    3. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. Caglayan AO, et al. J Hum Genet, 2021 Feb. PMID 32764695, Free PMC Article
    4. Structural basis for the functional differences between type I and type II human methionine aminopeptidases. Addlagatta A, et al. Biochemistry, 2005 Nov 15. PMID 16274222
    5. Protein N-terminal processing: substrate specificity of Escherichia coli and human methionine aminopeptidases. Xiao Q, et al. Biochemistry, 2010 Jul 6. PMID 20521764, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.
      Title: METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.
    2. MetAP1 and MetAP2 have roles in driving cell selectivity for a potent anti-cancer agent in synergy, by controlling glutathione redox state
      Title: MetAP1 and MetAP2 drive cell selectivity for a potent anti-cancer agent in synergy, by controlling glutathione redox state.
    3. Data indicate that pyridinylpyrimidine-based molecules displayed species specificity behavior against methionine aminopeptidases (MetAPs).
      Title: Identification, biochemical and structural evaluation of species-specific inhibitors against type I methionine aminopeptidases.
    4. the substrate specificities of Escherichia coli MetAP1, human MetAP1, and human MetAP2 were systematically profiled
      Title: Protein N-terminal processing: substrate specificity of Escherichia coli and human methionine aminopeptidases.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
    7. Human MetAP1 is distinct from other members of the MetAP superfamily in the number of metal ions employed and likely mechanism of catalysis.
      Title: Kinetic and mutational studies of the number of interacting divalent cations required by bacterial and human methionine aminopeptidases.
    8. A comparison of the structual differences between Type I and Type II methionine aminopeptidases.
      Title: Structural basis for the functional differences between type I and type II human methionine aminopeptidases.
    9. Data show that human methionine aminopeptidase 1 (MetAP1) fully rescued the slow growth phenotype associated with deletion of yeast MetAP1, suggesting that the yeast and human proteins may have similar roles in vivo.
      Title: Functional expression of human methionine aminopeptidase type 1 in Saccharomyces cerevisiae.
    10. results suggest that MetAP1 plays an important role in G(2)/M phase of the cell cycle and that it may serve as a promising target for the discovery and development of new anticancer agents
      Title: Elucidation of the function of type 1 human methionine aminopeptidase during cell cycle progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0094, DKFZp781C0419

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 
    enables protein binding IPI
    Inferred from Physical Interaction
    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 platelet aggregation HMP PubMed 
    involved_in protein maturation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of translation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in cytosolic ribosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    methionine aminopeptidase 1
    Names
    MAP 1
    metAP 1
    peptidase M 1
    NP_055958.2
    XP_011530079.1
    XP_011530080.1
    XP_011530081.1
    XP_016863403.1
    XP_016863405.1
    XP_016863406.1
    XP_024309714.1
    XP_024309715.1
    XP_024309719.1
    XP_047305839.1
    XP_047305840.1
    XP_047305841.1
    XP_047305842.1
    XP_047305843.1
    XP_054205353.1
    XP_054205354.1
    XP_054205355.1
    XP_054205356.1
    XP_054205357.1
    XP_054205358.1
    XP_054205359.1
    XP_054205360.1
    XP_054205361.1
    XP_054205362.1
    XP_054205363.1
    XP_054205364.1

    NCBI Reference Sequences (RefSeq)

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    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_015143.3 → NP_055958.2  methionine aminopeptidase 1

      See identical proteins and their annotated locations for NP_055958.2

      Status: VALIDATED

      Source sequence(s)
      BC030054, D42084, DA178462
      Consensus CDS
      CCDS47110.1
      UniProtKB/Swiss-Prot
      B4E2E6, P53582
      UniProtKB/TrEMBL
      Q5CZ91
      Related
      ENSP00000296411.6, ENST00000296411.11
      Conserved Domains (3) summary
      PLN03158
      Location:14 → 382
      PLN03158; methionine aminopeptidase; Provisional
      cd01086
      Location:136 → 373
      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.
      pfam15801
      Location:12 → 53
      zf-C6H2; zf-MYND-like zinc finger, mRNA-binding

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      98995721..99062809
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017007914.3 → XP_016863403.1  methionine aminopeptidase 1 isoform X4

      UniProtKB/TrEMBL
      Q5CZ91

    2. XM_011531779.3 → XP_011530081.1  methionine aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      Q5CZ91
      Conserved Domains (3) summary
      PLN03158
      Location:14 → 338
      PLN03158; methionine aminopeptidase; Provisional
      cd01086
      Location:136 → 329
      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.
      pfam15801
      Location:12 → 53
      zf-C6H2; zf-MYND-like zinc finger, mRNA-binding

    3. XM_011531777.4 → XP_011530079.1  methionine aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      Q5CZ91
      Conserved Domains (3) summary
      PLN03158
      Location:3 → 369
      PLN03158; methionine aminopeptidase; Provisional
      cd01086
      Location:123 → 360
      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.
      cl20224
      Location:24 → 40
      zf-MYND; MYND finger

    4. XM_024453946.2 → XP_024309714.1  methionine aminopeptidase 1 isoform X6

      UniProtKB/TrEMBL
      Q5CZ91
      Conserved Domains (1) summary
      cl00279
      Location:3 → 325
      APP_MetAP; A family including aminopeptidase P, aminopeptidase M, and prolidase. Also known as metallopeptidase family M24. This family of enzymes is able to cleave amido-, imido- and amidino-containing bonds. Members exibit relatively narrow substrate specificity ...

    5. XM_047449884.1 → XP_047305840.1  methionine aminopeptidase 1 isoform X5

      UniProtKB/TrEMBL
      Q5CZ91

    6. XM_047449883.1 → XP_047305839.1  methionine aminopeptidase 1 isoform X5

      UniProtKB/TrEMBL
      Q5CZ91

    7. XM_017007916.3 → XP_016863405.1  methionine aminopeptidase 1 isoform X8

      UniProtKB/TrEMBL
      Q5CZ91

    8. XM_017007917.3 → XP_016863406.1  methionine aminopeptidase 1 isoform X8

      UniProtKB/TrEMBL
      Q5CZ91

    9. XM_047449885.1 → XP_047305841.1  methionine aminopeptidase 1 isoform X5

      UniProtKB/TrEMBL
      Q5CZ91

    10. XM_011531778.3 → XP_011530080.1  methionine aminopeptidase 1 isoform X2

      UniProtKB/TrEMBL
      Q5CZ91
      Conserved Domains (3) summary
      PRK12318
      Location:41 → 337
      PRK12318; methionine aminopeptidase; Provisional
      cd01086
      Location:101 → 338
      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.
      cl20224
      Location:3 → 18
      zf-MYND; MYND finger

    11. XM_024453947.2 → XP_024309715.1  methionine aminopeptidase 1 isoform X7

      UniProtKB/TrEMBL
      Q5CZ91
      Conserved Domains (1) summary
      cl00279
      Location:2 → 303
      APP_MetAP; A family including aminopeptidase P, aminopeptidase M, and prolidase. Also known as metallopeptidase family M24. This family of enzymes is able to cleave amido-, imido- and amidino-containing bonds. Members exibit relatively narrow substrate specificity ...

    12. XM_047449886.1 → XP_047305842.1  methionine aminopeptidase 1 isoform X9

      UniProtKB/TrEMBL
      Q5CZ91

    13. XM_047449887.1 → XP_047305843.1  methionine aminopeptidase 1 isoform X9

      UniProtKB/TrEMBL
      Q5CZ91

    14. XM_024453951.2 → XP_024309719.1  methionine aminopeptidase 1 isoform X9

      UniProtKB/TrEMBL
      Q5CZ91
      Conserved Domains (1) summary
      cl00279
      Location:3 → 268
      APP_MetAP; A family including aminopeptidase P, aminopeptidase M, and prolidase. Also known as metallopeptidase family M24. This family of enzymes is able to cleave amido-, imido- and amidino-containing bonds. Members exibit relatively narrow substrate specificity ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      102310655..102377714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349381.1 → XP_054205356.1  methionine aminopeptidase 1 isoform X4

      UniProtKB/TrEMBL
      Q5CZ91

    2. XM_054349380.1 → XP_054205355.1  methionine aminopeptidase 1 isoform X3

      UniProtKB/TrEMBL
      Q5CZ91

    3. XM_054349378.1 → XP_054205353.1  methionine aminopeptidase 1 isoform X1

      UniProtKB/TrEMBL
      Q5CZ91

    4. XM_054349383.1 → XP_054205358.1  methionine aminopeptidase 1 isoform X6

      UniProtKB/TrEMBL
      Q5CZ91

    5. XM_054349385.1 → XP_054205360.1  methionine aminopeptidase 1 isoform X8

      UniProtKB/TrEMBL
      Q5CZ91

    6. XM_054349386.1 → XP_054205361.1  methionine aminopeptidase 1 isoform X8

      UniProtKB/TrEMBL
      Q5CZ91

    7. XM_054349384.1 → XP_054205359.1  methionine aminopeptidase 1 isoform X7

      UniProtKB/TrEMBL
      Q5CZ91

    8. XM_054349379.1 → XP_054205354.1  methionine aminopeptidase 1 isoform X2

      UniProtKB/TrEMBL
      Q5CZ91

    9. XM_054349382.1 → XP_054205357.1  methionine aminopeptidase 1 isoform X5

      UniProtKB/TrEMBL
      Q5CZ91

    10. XM_054349387.1 → XP_054205362.1  methionine aminopeptidase 1 isoform X9

      UniProtKB/TrEMBL
      Q5CZ91

    11. XM_054349388.1 → XP_054205363.1  methionine aminopeptidase 1 isoform X9

      UniProtKB/TrEMBL
      Q5CZ91

    12. XM_054349389.1 → XP_054205364.1  methionine aminopeptidase 1 isoform X9

      UniProtKB/TrEMBL
      Q5CZ91
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P53582.2 GenPept UniProtKB/Swiss-Prot:P53582

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