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RNPEP arginyl aminopeptidase [ Homo sapiens (human) ]

Gene ID: 6051, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in duodenum (RPKM 31.1), colon (RPKM 27.9) and 25 other tissues See more
Orthologs
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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 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)

Genotypes

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

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Chemical Information
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