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Aliases for RNPEPL1 Gene

Aliases for RNPEPL1 Gene

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

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. GO annotations related to this gene include binding and aminopeptidase activity. An important paralog of this gene is RNPEP.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for RNPEPL1 Gene

Genomics for RNPEPL1 Gene

Regulatory Elements for RNPEPL1 Gene

Enhancers for RNPEPL1 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
GH02G239910 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -654.0 -654041 2.7 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ELK1 ZNF143 FOS ZNF263 MXD4 NDUFA10 RNPEPL1 GC02P239887 GC02P239934
GH02G240620 1.6 FANTOM5 Ensembl ENCODE 2.4 +58.2 58189 7.2 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZBTB7B YY1 FOS ZNF263 GPR35 DUSP28 CAPN10 LOC285191 PASK AQP12B AQP12A MTERF4 RNPEPL1 LOC100420500
GH02G240912 1.7 FANTOM5 Ensembl ENCODE dbSUPER 1.9 +349.8 349820 5.8 AGO1 ARID4B ZNF76 KLF17 ZNF2 RAD21 GLIS2 ZNF143 FOS PCBP1 C2orf54 AGXT ENSG00000223991 SNED1 GPC1 RNPEPL1 CROCC2 GC02M240925
GH02G240558 1.4 ENCODE dbSUPER 0.7 -4.5 -4483 4.8 HDGF MLX ARNT CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 YY1 ANKMY1 RNPEPL1 DUSP28
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNPEPL1 on UCSC Golden Path with GeneCards custom track

Promoters for RNPEPL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000296906 796 401 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A ZNF48 ZNF121 GLIS2 ZNF143

Genomic Location for RNPEPL1 Gene

Chromosome:
2
Start:
240,565,804 bp from pter
End:
240,581,372 bp from pter
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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH67258.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAX88943.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA91823.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Protein Domains for RNPEPL1 Gene

Suggested Antigen Peptide Sequences for RNPEPL1 Gene

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 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 CatalyticActivity:
Release of N-terminal amino acids, preferentially methionine, from peptides and arylamides.
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.
UniProtKB/Swiss-Prot Function:
Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine.

Enzyme Numbers (IUBMB) for RNPEPL1 Gene

Gene Ontology (GO) - Molecular Function for RNPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA,IBA --
GO:0016787 hydrolase activity IEA --
GO:0042277 peptide binding IBA --
genes like me logo Genes that share ontologies with RNPEPL1: view
genes like me logo Genes that share phenotypes with RNPEPL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RNPEPL1

Inhibitory RNA Products

Clone Products

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 2

Gene Ontology (GO) - Cellular Components for RNPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with RNPEPL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RNPEPL1 Gene

Pathways & Interactions for RNPEPL1 Gene

SuperPathways for RNPEPL1 Gene

No Data Available

Interacting Proteins for RNPEPL1 Gene

Gene Ontology (GO) - Biological Process for RNPEPL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 11017071
GO:0043171 peptide catabolic process IBA --
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

Unigene Clusters for RNPEPL1 Gene

Arginyl aminopeptidase (aminopeptidase B)-like 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
RNPEPL1

Expression for RNPEPL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for RNPEPL1 Gene



Protein tissue co-expression partners for RNPEPL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RNPEPL1 Gene:

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(4.4)
  • Lymph node(4.3)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with RNPEPL1: view

Primer Products

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 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNPEPL1 34 35
  • 92.32 (n)
cow
(Bos Taurus)
Mammalia RNPEPL1 34 35
  • 91.58 (n)
mouse
(Mus musculus)
Mammalia Rnpepl1 34 16 35
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Rnpepl1 34
  • 88.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNPEPL1 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNPEPL1 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNPEPL1 34 35
  • 77.51 (n)
lizard
(Anolis carolinensis)
Reptilia RNPEPL1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnpepl1 34
  • 66.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398435 34
zebrafish
(Danio rerio)
Actinopterygii LOC100535895 34
  • 67.26 (n)
RNPEPL1 35
  • 50 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP2 35
  • 18 (a)
OneToMany
Species where no ortholog for RNPEPL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for RNPEPL1 Gene

Paralogs for RNPEPL1 Gene

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

genes like me logo Genes that share paralogs with RNPEPL1: view

Variants for RNPEPL1 Gene

Sequence variations from dbSNP and Humsavar for RNPEPL1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_036046 A colorectal cancer sample
rs1000027805 -- 240,569,934(+) GCCAA(A/G)GTGAC intron-variant
rs1000261543 -- 240,569,776(+) CTGCA(A/T)CCCTA intron-variant
rs1000463206 -- 240,570,239(+) GGGCC(C/T)TCAGC intron-variant
rs1000653815 -- 240,572,885(+) CCCGA(A/C)CTTGG intron-variant

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)

Relevant External Links for RNPEPL1 Gene

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

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

Disorders for RNPEPL1 Gene

Relevant External Links for RNPEPL1

Genetic Association Database (GAD)
RNPEPL1
Human Genome Epidemiology (HuGE) Navigator
RNPEPL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNPEPL1

No disorders were found for RNPEPL1 Gene.

No data available for MalaCards , 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 M.W. … Seipelt R.L. (Protein Pept. Lett. 2009) 2 3 4 22 64
  2. Family-based association study for bipolar affective disorder. (PMID: 20414141) Secolin R. … Lopes-Cendes I. (Psychiatr. Genet. 2010) 3 46 64
  3. Genome-wide searching of rare genetic variants in WTCCC data. (PMID: 20549515) Feng T. … Zhu X. (Hum. Genet. 2010) 3 46 64
  4. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. (PMID: 17554300) (Nature 2007) 3 46 64
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64

Products for RNPEPL1 Gene

Sources for RNPEPL1 Gene

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