Aliases for NPEPL1 Gene

Aliases for NPEPL1 Gene

  • Aminopeptidase Like 1 2 3 5
  • Probable Aminopeptidase NPEPL1 3 4
  • BA261P9.2 2 3
  • Aminopeptidase-Like 1 4
  • EC 3.4.11.1 50
  • EC 3.4.11.- 4
  • EC 3.4.11 50
  • FLJ11583 2
  • KIAA1974 4
  • NPEPL1 5

External Ids for NPEPL1 Gene

Previous GeneCards Identifiers for NPEPL1 Gene

  • GC20P056995
  • GC20P057905
  • GC20P057952
  • GC20P057953
  • GC20P056700
  • GC20P057267
  • GC20P054059

Summaries for NPEPL1 Gene

GeneCards Summary for NPEPL1 Gene

NPEPL1 (Aminopeptidase Like 1) is a Protein Coding gene. Diseases associated with NPEPL1 include Mitochondrial Complex V Deficiency, Nuclear Type 5. Gene Ontology (GO) annotations related to this gene include manganese ion binding and metalloexopeptidase activity. An important paralog of this gene is LAP3.

UniProtKB/Swiss-Prot Summary for NPEPL1 Gene

  • Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPEPL1 Gene

Genomics for NPEPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NPEPL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J058688 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 267.1 +2.5 2471 6.4 POLR2A CEBPB SIX4 ZNF341 ZBTB7B MBD2 ELF1 CUX1 NONO PAX8 NPEPL1 lnc-APCDD1L-4 NELFCD STX16 HSALNG0131272 STX16-NPEPL1 GNAS
GH20J058698 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 267 +10.5 10502 3.1 ZNF217 MTA3 HDGF BMI1 CEBPB NPEPL1 ENSG00000254419 HSALNG0131273 lnc-APCDD1L-4 STX16-NPEPL1 GNAS
GH20J058713 Promoter 0.4 EPDnew 250.4 +24.9 24858 0.1 ZBTB33 NPEPL1 ENSG00000254419 lnc-STX16-NPEPL1-1 STX16-NPEPL1 HSALNG0131277 GNAS
GH20J058714 Promoter 0.4 EPDnew 250.3 +25.5 25522 0.1 GTF2F1 NPEPL1 ENSG00000254419 lnc-STX16-NPEPL1-1 STX16-NPEPL1 HSALNG0131277 GNAS
GH20J058649 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 38.8 -35.6 -35560 9.1 BCLAF1 SP1 NCOR1 ZNF207 ZNF600 MYC IKZF1 SIX5 SSRP1 ZNF580 STX16 ENSG00000225806 NELFCD PPP4R1L NPEPL1 ENSG00000254419 ENSG00000270951 LINC01711 LOC107985410 lnc-APCDD1L-3-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPEPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPEPL1

Top Transcription factor binding sites by QIAGEN in the NPEPL1 gene promoter:
  • AP-1
  • c-Fos
  • Chx10
  • CREB
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NF-1
  • POU2F1
  • POU2F1a

Genomic Locations for NPEPL1 Gene

Latest Assembly
chr20:58,689,131-58,719,238
(GRCh38/hg38)
Size:
30,108 bases
Orientation:
Plus strand

Previous Assembly
chr20:57,264,187-57,290,900
(GRCh37/hg19 by Entrez Gene)
Size:
26,714 bases
Orientation:
Plus strand

chr20:57,264,187-57,294,294
(GRCh37/hg19 by Ensembl)
Size:
30,108 bases
Orientation:
Plus strand

Genomic View for NPEPL1 Gene

Genes around NPEPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPEPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPEPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPEPL1 Gene

Proteins for NPEPL1 Gene

  • Protein details for NPEPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NDH3-PEPL1_HUMAN
    Recommended name:
    Probable aminopeptidase NPEPL1
    Protein Accession:
    Q8NDH3
    Secondary Accessions:
    • A6NGZ0
    • B4DMW7
    • B7ZBN0
    • E9PN47
    • G5EA34
    • Q53G37
    • Q5W083
    • Q8TF28
    • Q8WUI2
    • Q9H1T6
    • Q9HAI5

    Protein attributes for NPEPL1 Gene

    Size:
    523 amino acids
    Molecular mass:
    55861 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AK307771; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13861.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for NPEPL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPEPL1 Gene

Selected DME Specific Peptides for NPEPL1 Gene

Q8NDH3:
  • NTDAEGRL
  • EINNTDAEGRL

Post-translational modifications for NPEPL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPEPL1 Gene

Domains & Families for NPEPL1 Gene

Gene Families for NPEPL1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NPEPL1 Gene

InterPro:
Blocks:
  • Regulator of chromosome condensation, RCC1
  • Cytosol aminopeptidase

Suggested Antigen Peptide Sequences for NPEPL1 Gene

GenScript: Design optimal peptide antigens:
  • Aminopeptidase-like 1, isoform CRA_d (E1P5G0_HUMAN)
  • Aminopeptidase-like 1 (PEPL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NDH3

UniProtKB/Swiss-Prot:

PEPL1_HUMAN :
  • Belongs to the peptidase M17 family.
Family:
  • Belongs to the peptidase M17 family.
genes like me logo Genes that share domains with NPEPL1: view

Function for NPEPL1 Gene

Molecular function for NPEPL1 Gene

UniProtKB/Swiss-Prot Function:
Probably catalyzes the removal of unsubstituted N-terminal amino acids from various peptides.

Enzyme Numbers (IUBMB) for NPEPL1 Gene

Phenotypes From GWAS Catalog for NPEPL1 Gene

Gene Ontology (GO) - Molecular Function for NPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0005515 protein binding IPI --
GO:0008233 peptidase activity IEA --
GO:0008235 metalloexopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NPEPL1: view
genes like me logo Genes that share phenotypes with NPEPL1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for NPEPL1

miRNA for NPEPL1 Gene

miRTarBase miRNAs that target NPEPL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPEPL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NPEPL1 Gene

Localization for NPEPL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPEPL1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NPEPL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NPEPL1 Gene

Pathways & Interactions for NPEPL1 Gene

PathCards logo

SuperPathways for NPEPL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0019538 protein metabolic process IEA --
genes like me logo Genes that share ontologies with NPEPL1: view

No data available for Pathways by source and SIGNOR curated interactions for NPEPL1 Gene

Drugs & Compounds for NPEPL1 Gene

(1) Drugs for NPEPL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 65
genes like me logo Genes that share compounds with NPEPL1: view

Transcripts for NPEPL1 Gene

mRNA/cDNA for NPEPL1 Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPEPL1

Alternative Splicing Database (ASD) splice patterns (SP) for NPEPL1 Gene

No ASD Table

Relevant External Links for NPEPL1 Gene

GeneLoc Exon Structure for
NPEPL1

Expression for NPEPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPEPL1 Gene

Protein differential expression in normal tissues from HIPED for NPEPL1 Gene

This gene is overexpressed in Uterus (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NPEPL1 Gene



Protein tissue co-expression partners for NPEPL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPEPL1

SOURCE GeneReport for Unigene cluster for NPEPL1 Gene:

Hs.654868

mRNA Expression by UniProt/SwissProt for NPEPL1 Gene:

Q8NDH3-PEPL1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for NPEPL1 Gene

  • Nervous system(4.4)
  • Heart(4.2)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with NPEPL1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPEPL1 Gene

Orthologs for NPEPL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPEPL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NPEPL1 30
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NPEPL1 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia NPEPL1 29 30
  • 89.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NPEPL1 29 30
  • 89.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Npepl1 29
  • 88 (n)
Mouse
(Mus musculus)
Mammalia Npepl1 29 16 30
  • 87.83 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NPEPL1 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NPEPL1 29 30
  • 76.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NPEPL1 30
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.26107 29
Zebrafish
(Danio rerio)
Actinopterygii npepl1 29 30
  • 73.68 (n)
OneToOne
wufi27h09 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10747 29
Fruit Fly
(Drosophila melanogaster)
Insecta BcDNA:LD41548 31
  • 65 (a)
grsm 29 30
  • 62.76 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007809 29
  • 62.58 (n)
Worm
(Caenorhabditis elegans)
Secernentea lap-1 29 30 31
  • 50.83 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 57 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14240 29
Species where no ortholog for NPEPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for NPEPL1 Gene

ENSEMBL:
Gene Tree for NPEPL1 (if available)
TreeFam:
Gene Tree for NPEPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NPEPL1: view image
Alliance of Genome Resources:
Additional Orthologs for NPEPL1

Paralogs for NPEPL1 Gene

Paralogs for NPEPL1 Gene

genes like me logo Genes that share paralogs with NPEPL1: view

Variants for NPEPL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPEPL1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs6026468 -- p.Leu513Val
rs8116292 -- p.Lys303Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NPEPL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NPEPL1 Gene

Variant ID Type Subtype PubMed ID
esv1198718 CNV insertion 17803354
esv2558295 CNV insertion 19546169
esv2665738 CNV deletion 23128226
esv3646226 CNV loss 21293372
nsv1063462 CNV gain 25217958
nsv1118920 CNV deletion 24896259
nsv1125729 CNV tandem duplication 24896259
nsv513552 CNV insertion 21212237
nsv828761 CNV loss 20364138
nsv828762 CNV loss 20364138
nsv955141 CNV deletion 24416366

Variation tolerance for NPEPL1 Gene

Residual Variation Intolerance Score: 69.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.66; 45.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPEPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPEPL1
Leiden Open Variation Database (LOVD)
NPEPL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPEPL1 Gene

Disorders for NPEPL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NPEPL1 Gene - From: COP

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, nuclear type 5
  • mc5dn5
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NPEPL1

genes like me logo Genes that share disorders with NPEPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NPEPL1 Gene

Publications for NPEPL1 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for NPEPL1 Gene

Sources for NPEPL1 Gene