Aliases for RNPEPL1 Gene

Aliases for RNPEPL1 Gene

  • Arginyl Aminopeptidase Like 1 2 3 5
  • Arginyl Aminopeptidase (Aminopeptidase B)-Like 1 2 3
  • Methionyl Aminopeptidase 3 4
  • Aminopeptidase B-Like 1 2 3
  • Aminopeptidase RNPEPL1 3 4
  • Argininyl Aminopeptidase-Like 1 3
  • Arginyl Aminopeptidase-Like 1 4
  • RNPEP-Like 1 3
  • EC 3.4.11.18 4
  • EC 3.4.11.- 4
  • RNPEPL1 5

External Ids for RNPEPL1 Gene

Previous GeneCards Identifiers for RNPEPL1 Gene

  • GC02M239958
  • GC02M240803
  • GC02P241527
  • GC02P241829
  • GC02P241228
  • GC02P241156
  • GC02P233256
  • GC02P241505

Summaries for RNPEPL1 Gene

GeneCards Summary for RNPEPL1 Gene

RNPEPL1 (Arginyl Aminopeptidase Like 1) is a Protein Coding gene. Diseases associated with RNPEPL1 include Venous Hemangioma. Gene Ontology (GO) annotations related to this gene include binding and aminopeptidase activity. An important paralog of this gene is RNPEP.

UniProtKB/Swiss-Prot Summary for RNPEPL1 Gene

  • Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNPEPL1 Gene

Genomics for RNPEPL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RNPEPL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNPEPL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNPEPL1

Top Transcription factor binding sites by QIAGEN in the RNPEPL1 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • STAT3

Genomic Locations for RNPEPL1 Gene

Latest Assembly
chr2:240,565,804-240,581,372
(GRCh38/hg38)
Size:
15,569 bases
Orientation:
Plus strand

Previous Assembly
chr2:241,507,901-241,520,789
(GRCh37/hg19 by Entrez Gene)
Size:
12,889 bases
Orientation:
Plus strand

chr2:241,505,221-241,520,789
(GRCh37/hg19 by Ensembl)
Size:
15,569 bases
Orientation:
Plus strand

Genomic View for RNPEPL1 Gene

Genes around RNPEPL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNPEPL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNPEPL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNPEPL1 Gene

Proteins for RNPEPL1 Gene

  • Protein details for RNPEPL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HAU8-RNPL1_HUMAN
    Recommended name:
    Aminopeptidase RNPEPL1
    Protein Accession:
    Q9HAU8
    Secondary Accessions:
    • Q5XKC3
    • Q6NX56
    • Q96AC9
    • Q9H033
    • Q9NVD0

    Protein attributes for RNPEPL1 Gene

    Size:
    725 amino acids
    Molecular mass:
    80000 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG22080.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH67258.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAX88943.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA91823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for RNPEPL1 Gene

Post-translational modifications for RNPEPL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RNPEPL1 Gene

No data available for DME Specific Peptides for RNPEPL1 Gene

Domains & Families for RNPEPL1 Gene

Gene Families for RNPEPL1 Gene

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

Suggested Antigen Peptide Sequences for RNPEPL1 Gene

GenScript: Design optimal peptide antigens:
  • RNPEPL1 protein (A4FTX9_HUMAN)
  • Arginyl aminopeptidase-like 1 (RNPL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HAU8

UniProtKB/Swiss-Prot:

RNPL1_HUMAN :
  • Belongs to the peptidase M1 family.
Family:
  • Belongs to the peptidase M1 family.
genes like me logo Genes that share domains with RNPEPL1: view

Function for RNPEPL1 Gene

Molecular function for RNPEPL1 Gene

UniProtKB/Swiss-Prot Function:
Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Release of N-terminal amino acids, preferentially methionine, from peptides and arylamides.; EC=3.4.11.18; Evidence={ECO:0000269|PubMed:19508204};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.37 mM for Met-AMC {ECO:0000269|PubMed:19508204}; KM=0.17 mM for Citrulline-AMC {ECO:0000269|PubMed:19508204}; KM=1.72 mM for Ala-AMC {ECO:0000269|PubMed:19508204}; KM=0.91 mM for Arg-AMC {ECO:0000269|PubMed:19508204}; KM=0.89 mM for Asn-AMC {ECO:0000269|PubMed:19508204}; KM=0.41 mM for Gln-AMC {ECO:0000269|PubMed:19508204}; KM=0.18 mM for His-AMC {ECO:0000269|PubMed:19508204}; KM=1.05 mM for Ile-AMC {ECO:0000269|PubMed:19508204}; KM=0.34 mM for Leu-AMC {ECO:0000269|PubMed:19508204}; KM=1.72 mM for Lys-AMC {ECO:0000269|PubMed:19508204}; KM=0.65 mM for Phe-AMC {ECO:0000269|PubMed:19508204}; KM=1.76 mM for Ser-AMC {ECO:0000269|PubMed:19508204}; KM=0.12 mM for Trp-AMC {ECO:0000269|PubMed:19508204}; KM=0.12 mM for Tyr-AMC {ECO:0000269|PubMed:19508204}; pH dependence: Optimum pH is 6.6-8.0. {ECO:0000269|PubMed:19508204};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by calcium but not affected by chloride ions. Inhibited by amastatin and to a lower extent by bestatin. Weakly inhibited by puromycin.

Enzyme Numbers (IUBMB) for RNPEPL1 Gene

Phenotypes From GWAS Catalog for RNPEPL1 Gene

Gene Ontology (GO) - Molecular Function for RNPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RNPEPL1: view
genes like me logo Genes that share phenotypes with RNPEPL1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for RNPEPL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNPEPL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNPEPL1 Gene

Localization for RNPEPL1 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 RNPEPL1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear bodies (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RNPEPL1 Gene

Pathways & Interactions for RNPEPL1 Gene

PathCards logo

SuperPathways for RNPEPL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RNPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 11017071
genes like me logo Genes that share ontologies with RNPEPL1: view

No data available for Pathways by source and SIGNOR curated interactions for RNPEPL1 Gene

Drugs & Compounds for RNPEPL1 Gene

No Compound Related Data Available

Transcripts for RNPEPL1 Gene

mRNA/cDNA for RNPEPL1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
10 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 RNPEPL1

Alternative Splicing Database (ASD) splice patterns (SP) for RNPEPL1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c · 12d ^ 13 ^ 14a · 14b
SP1: - - - -
SP2: - - -
SP3: - - - - - - - - - - - - -
SP4: - - -
SP5:
SP6: - -
SP7: -
SP8: -

Relevant External Links for RNPEPL1 Gene

GeneLoc Exon Structure for
RNPEPL1

Expression for RNPEPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNPEPL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RNPEPL1 Gene

This gene is overexpressed in Whole Blood (x6.5).

Protein differential expression in normal tissues from HIPED for RNPEPL1 Gene

This gene is overexpressed in NK cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RNPEPL1 Gene



Protein tissue co-expression partners for RNPEPL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNPEPL1

SOURCE GeneReport for Unigene cluster for RNPEPL1 Gene:

Hs.5345

mRNA Expression by UniProt/SwissProt for RNPEPL1 Gene:

Q9HAU8-RNPL1_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed at relatively higher levels in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for RNPEPL1 Gene

  • Nervous system(4.5)
  • Lymph node(4.3)
  • Pancreas(4.2)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with RNPEPL1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RNPEPL1 Gene

Orthologs for RNPEPL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RNPEPL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RNPEPL1 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia RNPEPL1 30 31
  • 92.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RNPEPL1 30 31
  • 91.58 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rnpepl1 30 17 31
  • 88.98 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rnpepl1 30
  • 88.8 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RNPEPL1 31
  • 85 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RNPEPL1 31
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RNPEPL1 30 31
  • 77.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RNPEPL1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rnpepl1 30
  • 66.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398435 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100535895 30
  • 67.26 (n)
RNPEPL1 31
  • 50 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP2 31
  • 18 (a)
OneToMany
Species where no ortholog for RNPEPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RNPEPL1 Gene

ENSEMBL:
Gene Tree for RNPEPL1 (if available)
TreeFam:
Gene Tree for RNPEPL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNPEPL1: view image

Paralogs for RNPEPL1 Gene

Paralogs for RNPEPL1 Gene

(2) SIMAP similar genes for RNPEPL1 Gene using alignment to 4 proteins:

  • RNPL1_HUMAN
  • A4FTX9_HUMAN
  • C9JSI2_HUMAN
  • H7C200_HUMAN
genes like me logo Genes that share paralogs with RNPEPL1: view

Variants for RNPEPL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNPEPL1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1454498603 A colorectal cancer sample p.Val478Met
rs35746075 Benign: not provided 240,575,118(+) A/G
NM_018226.6(RNPEPL1):c.1377A>G (p.Pro459=)
SYNONYMOUS
rs76384945 Benign: not provided 240,573,229(+) C/T
NM_018226.6(RNPEPL1):c.789C>T (p.Ala263=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RNPEPL1 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 RNPEPL1 Gene

Variant ID Type Subtype PubMed ID
esv2759119 CNV gain 17122850
esv3575343 CNV gain 25503493
esv3594802 CNV gain 21293372
nsv1001262 CNV gain 25217958
nsv10226 CNV gain 18304495
nsv1071664 CNV deletion 25765185
nsv1144928 CNV deletion 24896259
nsv470529 CNV loss 18288195
nsv482062 CNV gain 20164927
nsv834586 CNV loss 17160897
nsv955291 CNV deletion 24416366
nsv999050 CNV gain 25217958

Variation tolerance for RNPEPL1 Gene

Gene Damage Index Score: 0.89; 18.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNPEPL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNPEPL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNPEPL1 Gene

Disorders for RNPEPL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNPEPL1 Gene - From: COP

Disorder Aliases PubMed IDs
venous hemangioma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNPEPL1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RNPEPL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNPEPL1 Gene

Publications for RNPEPL1 Gene

  1. Arginyl aminopeptidase-like 1 (RNPEPL1) is an alternatively processed aminopeptidase with specificity for methionine, glutamine, and citrulline residues. (PMID: 19508204) Thompson MW … Seipelt RL (Protein and peptide letters 2009) 2 3 4 23
  2. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T … Zhu X (Human genetics 2010) 3 41
  3. Family-based association study for bipolar affective disorder. (PMID: 20414141) Secolin R … Lopes-Cendes I (Psychiatric genetics 2010) 3 41
  4. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (PMID: 17554300) Wellcome Trust Case Control Consortium (Nature 2007) 3 41
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

Products for RNPEPL1 Gene

Sources for RNPEPL1 Gene