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

Gene ID: 4012, updated on 21-Dec-2019

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
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

Genomic context

See LNPEP in Genome Data Viewer
Location:
5q15
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (96934859..97037513)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (96271346..96365115)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724748 Neighboring gene endoplasmic reticulum aminopeptidase 1 Neighboring gene endoplasmic reticulum aminopeptidase 2 Neighboring gene ribosomal protein S20 pseudogene 16 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aminopeptidase activity EXP
Inferred from Experiment
more info
PubMed 
aminopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
metalloaminopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metallopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
peptide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
SMAD protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
Traceable Author Statement
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
female pregnancy TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
peptide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome lumen TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane HDA PubMed 
membrane HDA PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
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_024301813.1

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_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
    Q9UIQ6
    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/Swiss-Prot
    Q9UIQ6
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    96934859..97037513
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446045.1XP_024301813.1  leucyl-cystinyl aminopeptidase isoform X1

    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
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