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AOPEP aminopeptidase O (putative) [ Homo sapiens (human) ]

Gene ID: 84909, updated on 13-Mar-2020

Summary

Official Symbol
AOPEPprovided by HGNC
Official Full Name
aminopeptidase O (putative)provided by HGNC
Primary source
HGNC:HGNC:1361
See related
Ensembl:ENSG00000148120
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
APO; AP-O; ONPEP; C90RF3; C9orf3
Summary
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
Expression
Ubiquitous expression in skin (RPKM 4.6), endometrium (RPKM 4.2) and 24 other tissues See more
Orthologs

Genomic context

See AOPEP in Genome Data Viewer
Location:
9q22.32
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (94726669..95148264)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (97488886..97849500)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene fructose-bisphosphatase 1 Neighboring gene uncharacterized LOC107987101 Neighboring gene microRNA 2278 Neighboring gene uncharacterized LOC101928119 Neighboring gene uncharacterized LOC107987102 Neighboring gene microRNA 6081 Neighboring gene microRNA 3074 Neighboring gene microRNA 24-1 Neighboring gene microRNA 23b Neighboring gene microRNA 27b Neighboring gene ribosomal protein S26 pseudogene 37 Neighboring gene FA complementation group C Neighboring gene RNA, 5S ribosomal pseudogene 288 Neighboring gene ATM interactor pseudogene Neighboring gene uncharacterized LOC105376155

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
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
NHGRI GWA Catalog
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
NHGRI GWA Catalog
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14675, FLJ40923, FLJ55832

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloaminopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
angiotensin maturation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus ISS
Inferred from Sequence or Structural Similarity
more info
 

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.

Genomic

  1. NG_027833.1 RefSeqGene

    Range
    5001..365550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193329.1NP_001180258.1  aminopeptidase O isoform 1

    See identical proteins and their annotated locations for NP_001180258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AI982632, AJ560639, AK057450, BC020194, BQ448239
    Consensus CDS
    CCDS55328.1
    UniProtKB/Swiss-Prot
    Q8N6M6
    Related
    ENSP00000364464.2, ENST00000375315.6
    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:716817
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  2. NM_001193331.3NP_001180260.1  aminopeptidase O isoform 4

    See identical proteins and their annotated locations for NP_001180260.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons, but has an alternate 3' exon, as compared to variant 1. The resulting isoform (4) is much shorter and has a different C-terminus, as compared to isoform 1.
    Source sequence(s)
    AK057450, AK098242, AL353768, BX099259, DA521148
    Consensus CDS
    CCDS55327.1
    UniProtKB/Swiss-Prot
    Q8N6M6
    Related
    ENSP00000277198.2, ENST00000277198.6
    Conserved Domains (1) summary
    cl14813
    Location:186551
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  3. NM_032823.5NP_116212.3  aminopeptidase O isoform 2

    See identical proteins and their annotated locations for NP_116212.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two consecutive in-frame exons in the CDS, as compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AI982632, AL354893, BC029616, DA521148
    Consensus CDS
    CCDS6713.1
    UniProtKB/Swiss-Prot
    Q8N6M6
    Related
    ENSP00000297979.5, ENST00000297979.9
    Conserved Domains (2) summary
    pfam09127
    Location:617718
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:186533
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    94726669..95148264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519121.3XP_011517423.1  aminopeptidase O isoform X4

    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:716781
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  2. XM_017015230.2XP_016870719.1  aminopeptidase O isoform X3

    UniProtKB/Swiss-Prot
    Q8N6M6
    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:716817
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  3. XM_006717306.2XP_006717369.1  aminopeptidase O isoform X3

    See identical proteins and their annotated locations for XP_006717369.1

    UniProtKB/Swiss-Prot
    Q8N6M6
    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:716817
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  4. XM_011519119.2XP_011517421.1  aminopeptidase O isoform X1

    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:716771
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  5. XM_017015231.2XP_016870720.1  aminopeptidase O isoform X6

    UniProtKB/Swiss-Prot
    Q8N6M6
    Conserved Domains (2) summary
    pfam09127
    Location:617718
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:186533
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  6. XM_005252284.3XP_005252341.1  aminopeptidase O isoform X5

    Conserved Domains (2) summary
    pfam09127
    Location:617672
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:186533
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  7. XM_017015235.2XP_016870724.1  aminopeptidase O isoform X14

    Related
    ENSP00000401854.1, ENST00000428313.5
  8. XM_017015234.2XP_016870723.1  aminopeptidase O isoform X12

    Conserved Domains (2) summary
    pfam09127
    Location:419474
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:27335
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  9. XM_017015237.2XP_016870726.1  aminopeptidase O isoform X19

  10. XM_017015236.2XP_016870725.1  aminopeptidase O isoform X17

  11. XM_011519120.3XP_011517422.1  aminopeptidase O isoform X2

    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:706732
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  12. XM_017015232.2XP_016870721.1  aminopeptidase O isoform X8

  13. XM_011519123.3XP_011517425.1  aminopeptidase O isoform X9

    Conserved Domains (1) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
  14. XM_011519122.3XP_011517424.1  aminopeptidase O isoform X7

    Conserved Domains (1) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
  15. XM_011519127.2XP_011517429.1  aminopeptidase O isoform X10

    Conserved Domains (1) summary
    cd09595
    Location:186625
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
  16. XM_011519129.2XP_011517431.1  aminopeptidase O isoform X13

    Conserved Domains (1) summary
    cl14813
    Location:186551
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  17. XM_011519130.2XP_011517432.1  aminopeptidase O isoform X15

    Conserved Domains (1) summary
    cl14813
    Location:186456
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  18. XM_011519134.3XP_011517436.1  aminopeptidase O isoform X18

    Conserved Domains (1) summary
    cl14813
    Location:186455
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  19. XM_017015229.1XP_016870718.1  aminopeptidase O isoform X1

    Conserved Domains (2) summary
    cd09595
    Location:186632
    M1; Peptidase M1 family contains aminopeptidase N and leukotriene A4 hydrolase
    pfam09127
    Location:716771
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
  20. XM_017015233.1XP_016870722.1  aminopeptidase O isoform X11

  21. XM_011519132.1XP_011517434.1  aminopeptidase O isoform X16

    Conserved Domains (2) summary
    pfam09127
    Location:336391
    Leuk-A4-hydro_C; Leukotriene A4 hydrolase, C-terminal
    cl14813
    Location:1252
    GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

RNA

  1. XR_001746402.2 RNA Sequence

  2. XR_929852.2 RNA Sequence

  3. XR_001746403.2 RNA Sequence

  4. XR_001746404.2 RNA Sequence

  5. XR_929854.2 RNA Sequence

  6. XR_929853.2 RNA Sequence

  7. XR_929856.3 RNA Sequence

  8. XR_929855.2 RNA Sequence

  9. XR_929857.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001193330.1: Suppressed sequence

    Description
    NM_001193330.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
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