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    RNPEP arginyl aminopeptidase [ Homo sapiens (human) ]

    Gene ID: 6051, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RNPEPprovided by HGNC
    Official Full Name
    arginyl aminopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:10078
    See related
    Ensembl:ENSG00000176393 MIM:602675; AllianceGenome:HGNC:10078
    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
    APB; AP-B
    Summary
    Predicted to enable metalloaminopeptidase activity. Predicted to be involved in proteolysis. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 31.1), colon (RPKM 27.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNPEP in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201982648..202006143)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (201240334..201263798)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201951776..201975271)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1696 Neighboring gene small nucleolar RNA, H/ACA box 70H Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201955078-201955252 Neighboring gene ribosomal protein L10 pseudogene 4 Neighboring gene VISTA enhancer hs2572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201973460-201974102 Neighboring gene ELF3 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201977313-201977954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201979681-201980614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201980615-201981549 Neighboring gene microRNA 6740 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:201982359-201983558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201987061-201987829 Neighboring gene E74 like ETS transcription factor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202038709-202039458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202041245-202041744 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202053789-202054548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:202054549-202055308 Neighboring gene FOXA motif-containing MPRA enhancer 200 Neighboring gene uncharacterized LOC105371684 Neighboring gene cysteine rich protein 1 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Characterization and purification of T lymphocyte aminopeptidase B: a putative marker of T cell activation. Belhacene N, et al. Eur J Immunol, 1993 Aug. PMID 8344358
    2. The M1 family of vertebrate aminopeptidases: role of evolutionarily conserved tyrosines in the enzymatic mechanism of aminopeptidase B. Cadel S, et al. Biochimie, 2015 Feb. PMID 25530263
    3. Aspartic acid 405 contributes to the substrate specificity of aminopeptidase B. Fukasawa KM, et al. Biochemistry, 2006 Sep 26. PMID 16981702
    4. Assignment of the aminopeptidase B gene (RNPEP) to human chromosome 1 band q32 by in situ hybridization. Aurich-Costa J, et al. Cytogenet Cell Genet, 1997. PMID 9533033
    5. Aminopeptidase B (EC 3.4.11.6). Foulon T, et al. Int J Biochem Cell Biol, 1999 Jul. PMID 10467730

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The substrate Angiotensin II, the enzymes aminopeptidases-A, B, M as well as IRAP were detected in the jejunal mucosa.
      Title: Local expression of AP/AngIV/IRAP and effect of AngIV on glucose-induced epithelial transport in human jejunal mucosa.
    2. cytosolic peptidases(puromycin-sensitive aminopeptidase (PSA), aminopeptidase B (APB) and pyroglutamyl-peptidase I (PGI) ) may be involved in colorectal carcinogenesis
      Title: Altered Activity and Expression of Cytosolic Peptidases in Colorectal Cancer.
    3. these results suggest a pathophysiological involvement of plasma peptidases and indicate that aminopeptidase activity can predict the course of first-episode psychosis patients, acting as a prognostic indicator
      Title: Plasma peptidases as prognostic biomarkers in patients with first-episode psychosis.
    4. Data indicate that the importance of hydrogen bonds in aminopeptidase B (Ap-B) is verified by the Y229H substitution, which preserves the enzyme activity.
      Title: The M1 family of vertebrate aminopeptidases: role of evolutionarily conserved tyrosines in the enzymatic mechanism of aminopeptidase B.
    5. Activities of aminopeptidases N and B and insulin-regulated aminopeptidase could be useful non-invasive biomarkers of Alzheimer's disease from the earliest stages.
      Title: Plasma renin-angiotensin system-regulating aminopeptidase activities are modified in early stage Alzheimer's disease and show gender differences but are not related to apolipoprotein E genotype.
    6. These data strongly suggest that the Asp 405 residue of aminopeptidase B is involved in substrate binding via an interaction with the P1 amino group of the substrate's side chain.
      Title: Aspartic acid 405 contributes to the substrate specificity of aminopeptidase B.
    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

    EBI GWAS Catalog

    Description
    GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp547H084

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables aminopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables aminopeptidase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables epoxide hydrolase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloexopeptidase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IC
    Inferred by Curator
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    aminopeptidase B
    Names
    arginine aminopeptidase
    NP_001306111.1
    NP_001306112.1
    NP_001306113.1
    NP_064601.3

    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_001319182.2 → NP_001306111.1  aminopeptidase B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate first exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC099676
      UniProtKB/Swiss-Prot
      Q9H4A4
      Conserved Domains (2) summary
      cd09599
      Location:19 → 353
      M1_LTA4H; Peptidase M1 family contains leukotriene A4 hydrolase
      pfam09127
      Location:373 → 513
      Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal

    2. NM_001319183.2 → NP_001306112.1  aminopeptidase B isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate splice junction compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AC099676
      UniProtKB/Swiss-Prot
      Q9H4A4
      Related
      ENST00000471105.5
      Conserved Domains (2) summary
      pfam09127
      Location:214 → 354
      Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
      cl14813
      Location:1 → 194
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

    3. NM_001319184.2 → NP_001306113.1  aminopeptidase B isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode the same isoform (c).
      Source sequence(s)
      AC099676
      UniProtKB/Swiss-Prot
      Q9H4A4
      Conserved Domains (2) summary
      pfam09127
      Location:214 → 354
      Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
      cl14813
      Location:1 → 194
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

    4. NM_020216.4 → NP_064601.3  aminopeptidase B isoform a

      See identical proteins and their annotated locations for NP_064601.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC099676
      Consensus CDS
      CCDS1418.1
      UniProtKB/Swiss-Prot
      Q9BVM9, Q9H1D4, Q9H4A4, Q9NPT7
      UniProtKB/TrEMBL
      Q7RU04
      Related
      ENSP00000295640.4, ENST00000295640.9
      Conserved Domains (3) summary
      cd09599
      Location:24 → 484
      M1_LTA4H; Peptidase M1 family contains leukotriene A4 hydrolase
      TIGR02411
      Location:24 → 634
      leuko_A4_hydro; leukotriene A-4 hydrolase/aminopeptidase
      pfam09127
      Location:504 → 644
      Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      201982648..202006143
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      201240334..201263798
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H4A4.2 GenPept UniProtKB/Swiss-Prot:Q9H4A4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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