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RNPEP arginyl aminopeptidase [ Homo sapiens (human) ]

Gene ID: 6051, updated on 9-Dec-2018

Summary

Official Symbol
RNPEPprovided by HGNC
Official Full Name
arginyl aminopeptidaseprovided by HGNC
Primary source
HGNC:HGNC:10078
See related
Ensembl:ENSG00000176393 MIM:602675
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
Expression
Ubiquitous expression in duodenum (RPKM 31.1), colon (RPKM 27.9) and 25 other tissues See more
Orthologs

Genomic context

See RNPEP in Genome Data Viewer
Location:
1q32.1
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (201982638..202006147)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201951766..201975275)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 70H Neighboring gene ribosomal protein L10 pseudogene 4 Neighboring gene uncharacterized LOC112268254 Neighboring gene ELF3 antisense RNA 1 Neighboring gene microRNA 6740 Neighboring gene E74 like ETS transcription factor 3 Neighboring gene FOXA motif-containing MPRA enhancer 200

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp547H084

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
aminopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
epoxide hydrolase activity NAS
Non-traceable Author Statement
more info
PubMed 
metalloexopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
negative regulation of blood pressure IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region HDA PubMed 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
secretory granule IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
aminopeptidase B
Names
arginine aminopeptidase
NP_001306111.1
NP_001306112.1
NP_001306113.1
NP_064601.3
XP_005245478.1
XP_016857511.1

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_001319182.1NP_001306111.1  aminopeptidase B isoform b precursor

    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, BC001064, BG388104, BQ182382, BY994108, DA684772
    UniProtKB/Swiss-Prot
    Q9H4A4
    Conserved Domains (2) summary
    cd09599
    Location:19353
    M1_LTA4H; Peptidase M1 family contains leukotriene A4 hydrolase
    pfam09127
    Location:373513
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  2. NM_001319183.1NP_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, AL390139, BQ182382, BQ898593
    UniProtKB/Swiss-Prot
    Q9H4A4
    Conserved Domains (2) summary
    pfam09127
    Location:214354
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:1194
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  3. NM_001319184.1NP_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, BC001064, BQ182382, BQ898593, DA359487
    UniProtKB/Swiss-Prot
    Q9H4A4
    Conserved Domains (2) summary
    pfam09127
    Location:214354
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:1194
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  4. NM_020216.4NP_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
    Q9H4A4
    Related
    ENSP00000295640.4, ENST00000295640.8
    Conserved Domains (3) summary
    cd09599
    Location:24484
    M1_LTA4H; Peptidase M1 family contains leukotriene A4 hydrolase
    TIGR02411
    Location:24634
    leuko_A4_hydro; leukotriene A-4 hydrolase/aminopeptidase
    pfam09127
    Location:504644
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    201982638..202006147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002022.1XP_016857511.1  aminopeptidase B isoform X1

    UniProtKB/Swiss-Prot
    Q9H4A4
    Conserved Domains (2) summary
    pfam09127
    Location:214354
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:1194
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  2. XM_005245421.1XP_005245478.1  aminopeptidase B isoform X1

    See identical proteins and their annotated locations for XP_005245478.1

    UniProtKB/Swiss-Prot
    Q9H4A4
    Conserved Domains (2) summary
    pfam09127
    Location:214354
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:1194
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
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