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Aliases for NPEPL1 Gene

Aliases for NPEPL1 Gene

  • Aminopeptidase-Like 1 2 3 4 5
  • Probable Aminopeptidase NPEPL1 3
  • EC 3.4.11.1 61
  • EC 3.4.11.- 4
  • BA261P9.2 3
  • EC 3.4.11 61
  • KIAA1974 4

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. GO annotations related to this gene include manganese ion binding and metalloexopeptidase activity. An important paralog of this gene is LAP3.

UniProtKB/Swiss-Prot for NPEPL1 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPEPL1 Gene

Genomics for NPEPL1 Gene

Regulatory Elements for NPEPL1 Gene

Enhancers for NPEPL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F058660 1 FANTOM5 ENCODE 22 -27.5 -27464 1.5 CBX1 KLF9 ZBTB33 ETV6 NPEPL1 LINC01711 STX16 RAB22A STX16-NPEPL1 PIR50186
GH20F058649 0.2 ENCODE 21.9 -37.1 -37062 5.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 LOC101927932 ENSG00000254419 NPEPL1 ENSG00000270279 PIEZO1P2 ANKRD60 ENSG00000227282 RAB22A NELFCD ENSG00000270951
GH20F058665 0.4 ENCODE 21.3 -23.3 -23308 0.2 SMARCA4 POLR2A NPEPL1 PIR50186 STX16 STX16-NPEPL1
GH20F058661 1.1 Ensembl ENCODE 17.7 -29.2 -29231 1.0 CTCF CBX1 PKNOX1 RFX1 SPI1 NPEPL1 LINC01711 ENSG00000254419 STX16-NPEPL1 STX16 PIR50186
GH20F058645 1 Ensembl ENCODE 17.3 -43.5 -43471 0.9 NFIA HLF SIN3A ZNF384 HMG20A MNT NR2F2 RARA CBX1 JUND NPEPL1 GNAS GNAS-AS1 GC20M058648 LINC01711
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NPEPL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NPEPL1 Gene

Chromosome:
20
Start:
58,689,131 bp from pter
End:
58,719,238 bp from pter
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; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AK307771; Type=Frameshift; Positions=35; Evidence={ECO:0000305}; Sequence=BAB13861.1; Type=Frameshift; Positions=71; 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

Suggested Antigen Peptide Sequences for NPEPL1 Gene

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

Gene Ontology (GO) - Molecular Function for NPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008235 metalloexopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0030145 manganese ion binding IEA --
genes like me logo Genes that share ontologies with NPEPL1: view
genes like me logo Genes that share phenotypes with NPEPL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NPEPL1

miRNA for NPEPL1 Gene

miRTarBase miRNAs that target NPEPL1

Flow Cytometry Products

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
Jensen Localization Image for NPEPL1 Gene COMPARTMENTS Subcellular localization image for NPEPL1 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 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

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 34
genes like me logo Genes that share compounds with NPEPL1: view

Transcripts for NPEPL1 Gene

Unigene Clusters for NPEPL1 Gene

Aminopeptidase-like 1:
Representative Sequences:

Flow Cytometry Products

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

No ASD Table

Relevant External Links for NPEPL1 Gene

GeneLoc Exon Structure for
NPEPL1
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for NPEPL1 Gene



Protein tissue co-expression partners for NPEPL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NPEPL1 Gene:

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.
genes like me logo Genes that share expression patterns with NPEPL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPEPL1 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPEPL1 34 35
  • 89.67 (n)
dog
(Canis familiaris)
Mammalia NPEPL1 34 35
  • 89.17 (n)
rat
(Rattus norvegicus)
Mammalia Npepl1 34
  • 88 (n)
mouse
(Mus musculus)
Mammalia Npepl1 34 16 35
  • 87.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NPEPL1 35
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPEPL1 34 35
  • 76.29 (n)
lizard
(Anolis carolinensis)
Reptilia NPEPL1 35
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.26107 34
zebrafish
(Danio rerio)
Actinopterygii npepl1 34 35
  • 73.68 (n)
wufi27h09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10747 34
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:LD41548 36
  • 65 (a)
grsm 34 35
  • 62.76 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007809 34
  • 62.58 (n)
worm
(Caenorhabditis elegans)
Secernentea lap-1 36 34 35
  • 50.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14240 34
Species where no ortholog for NPEPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

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 from dbSNP and Humsavar for NPEPL1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs10451715 -- 58,699,017(+) AAATG(A/G)GAGTG intron-variant
rs10546381 -- 58,704,503(+) ATAAC(-/AT)ATAAA intron-variant
rs1061587 -- 58,715,308(+) TCCAA(A/G)AGACG nc-transcript-variant, reference, synonymous-codon
rs11086654 -- 58,688,334(+) AAATA(C/T)GTGTA intron-variant, upstream-variant-2KB
rs11086655 -- 58,708,073(+) GCGAG(-/T)ACCCT intron-variant

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)

Relevant External Links for NPEPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPEPL1

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

Disorders for NPEPL1 Gene

Relevant External Links for NPEPL1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPEPL1

No disorders were found for NPEPL1 Gene.

No data available for MalaCards , 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. (Nat. Genet. 2004) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  4. 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 Res. 2001) 3 4 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for NPEPL1 Gene

Sources for NPEPL1 Gene

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