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    LNPEP leucyl and cystinyl aminopeptidase [ Homo sapiens (human) ]

    Gene ID: 4012, updated on 3-Dec-2024

    Summary

    Official Symbol
    LNPEPprovided by HGNC
    Official Full Name
    leucyl and cystinyl aminopeptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:6656
    See related
    Ensembl:ENSG00000113441 MIM:151300; AllianceGenome:HGNC:6656
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAP; IRAP; PLAP; P-LAP
    Summary
    This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 8.2), appendix (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LNPEP in Genome Data Viewer
    Location:
    5q15
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (96936080..97037513)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (97435206..97538276)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96271784..96373217)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum aminopeptidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22821 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:96220180-96220354 Neighboring gene Sharpr-MPRA regulatory region 14932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22822 Neighboring gene endoplasmic reticulum aminopeptidase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22824 Neighboring gene uncharacterized LOC124901030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22829 Neighboring gene Sharpr-MPRA regulatory region 4368 Neighboring gene ribosomal protein S20 pseudogene 16 Neighboring gene MPRA-validated peak5362 silencer Neighboring gene Sharpr-MPRA regulatory region 9279 Neighboring gene SET pseudogene 22 Neighboring gene LIX1 and RIOK2 antisense RNA 1 Neighboring gene limb and CNS expressed 1

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Pathways from PubChem

    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 EXP
    Inferred from Experiment
    more info
    PubMed 
    enables aminopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metalloaminopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables peptide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
    Traceable Author Statement
    more info
     
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in female pregnancy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in peptide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein polyubiquitination TAS
    Traceable Author Statement
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of blood pressure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    leucyl-cystinyl aminopeptidase
    Names
    AT (4) receptor
    angiotensin IV receptor
    cystinyl aminopeptidase
    insulin-regulated aminopeptidase
    insulin-regulated membrane aminopeptidase
    insulin-responsive aminopeptidase
    otase
    oxytocinase
    placental leucine aminopeptidase
    vasopressinase
    NP_005566.2
    NP_787116.2
    XP_047273133.1
    XP_054208557.1

    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_005575.3NP_005566.2  leucyl-cystinyl aminopeptidase isoform 1

      See identical proteins and their annotated locations for NP_005566.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC008850, AC008865, BC028692, BG622952, BQ923659, U62768
      Consensus CDS
      CCDS4087.1
      UniProtKB/Swiss-Prot
      O00769, Q15145, Q59H76, Q9TNQ2, Q9TNQ3, Q9UIQ6, Q9UIQ7
      UniProtKB/TrEMBL
      B2RAK1
      Related
      ENSP00000231368.5, ENST00000231368.10
      Conserved Domains (2) summary
      cd09601
      Location:175617
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam11838
      Location:6891009
      ERAP1_C; ERAP1-like C-terminal domain
    2. NM_175920.4NP_787116.2  leucyl-cystinyl aminopeptidase isoform 2

      See identical proteins and their annotated locations for NP_787116.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, which results in a distinct 5' UTR and use of a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AC008850, AC008865, BC028692, BG622952, BQ923659, U62768, U62769
      Consensus CDS
      CCDS43346.1
      UniProtKB/TrEMBL
      B2RAK1
      Related
      ENSP00000379117.3, ENST00000395770.3
      Conserved Domains (3) summary
      cd09601
      Location:161603
      M1_APN_2; Peptidase M1 Aminopeptidase N family incudes tricorn interacting factor F3, Endoplasmic reticulum aminopeptidase 1 (ERAP1), Aminopeptidase Q (APQ)
      pfam01433
      Location:153538
      Peptidase_M1; Peptidase family M1
      pfam11838
      Location:676991
      ERAP1_C; ERAP1-like C-terminal domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      96936080..97037513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417177.1XP_047273133.1  leucyl-cystinyl aminopeptidase isoform X1

      UniProtKB/TrEMBL
      B2RAK1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      97435206..97538276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352582.1XP_054208557.1  leucyl-cystinyl aminopeptidase isoform X2

      UniProtKB/TrEMBL
      B2RAK1