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Aliases for RNPEP Gene

Aliases for RNPEP Gene

  • Arginyl Aminopeptidase 2 3 4 5
  • Arginine Aminopeptidase 3 4
  • Aminopeptidase B 2 3
  • EC 3.4.11.6 4 61
  • AP-B 3 4
  • Arginyl Aminopeptidase (Aminopeptidase B) 2
  • EC 3.4.11 61
  • APB 4

External Ids for RNPEP Gene

Previous GeneCards Identifiers for RNPEP Gene

  • GC01P199636
  • GC01P197385
  • GC01P198418
  • GC01P199240
  • GC01P198683
  • GC01P200218
  • GC01P201951
  • GC01P173117

Summaries for RNPEP Gene

GeneCards Summary for RNPEP Gene

RNPEP (Arginyl Aminopeptidase) is a Protein Coding gene. Diseases associated with RNPEP include Carpal Tunnel Syndrome, Familial and Nerve Compression Syndrome. GO annotations related to this gene include binding and aminopeptidase activity. An important paralog of this gene is LTA4H.

UniProtKB/Swiss-Prot for RNPEP Gene

  • Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(-1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity).

Gene Wiki entry for RNPEP Gene

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

Genomics for RNPEP Gene

Regulatory Elements for RNPEP Gene

Enhancers for RNPEP 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
GH01F201982 0.7 ENCODE 89.1 +0.7 738 2.1 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 RNPEP ENSG00000273478 HNRNPA1P59 RPS27P8 LOC102723465
GH01F201990 0.2 ENCODE 56.9 +8.2 8216 0.2 RNPEP ENSG00000223774 SHISA4 LMOD1 TIMM17A ENSG00000273478
GH01F202005 1 FANTOM5 Ensembl ENCODE 41.3 +32.7 32675 18.8 MLX CREB3L1 YY1 ZNF143 ZNF263 SP3 NFYC MEF2D SSRP1 ZNF610 RNPEP ENSG00000273478 HNRNPA1P59 IPO9-AS1 IPO9 ENSG00000206637 RPL10P4 LOC102723465 RPS27P8 ENSG00000224818
GH01F202926 1.1 ENCODE 31.2 +944.7 944693 1.9 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ZBED6 RNPEP SNRPE ENSG00000273478 PRELP HNRNPA1P59 RPS27P8 LOC100506672 LOC102723465 KLHL12
GH01F202856 1.4 Ensembl ENCODE 23.9 +877.1 877128 5.6 ZFP64 ARID4B SIN3A DMAP1 YY1 FOS ZNF263 SP3 SP5 NFYC ZBED6 RNPEP ENSG00000273478 LOC100506672 HNRNPA1P59 LOC102723465 LOC730222 ADIPOR1 RABIF PCAT6
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RNPEP on UCSC Golden Path with GeneCards custom track

Promoters for RNPEP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082101 728 1801 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

Genomic Location for RNPEP Gene

Chromosome:
1
Start:
201,982,372 bp from pter
End:
202,006,147 bp from pter
Size:
23,776 bases
Orientation:
Plus strand

Genomic View for RNPEP Gene

Genes around RNPEP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RNPEP Gene

Proteins for RNPEP Gene

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

    Protein Symbol:
    Q9H4A4-AMPB_HUMAN
    Recommended name:
    Aminopeptidase B
    Protein Accession:
    Q9H4A4
    Secondary Accessions:
    • Q9BVM9
    • Q9H1D4
    • Q9NPT7

    Protein attributes for RNPEP Gene

    Size:
    650 amino acids
    Molecular mass:
    72596 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

neXtProt entry for RNPEP Gene

Selected DME Specific Peptides for RNPEP Gene

Q9H4A4:
  • WFGNLVT
  • GPRSRVWAEPCL

Post-translational modifications for RNPEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for RNPEP Gene

Gene Families for RNPEP Gene

Suggested Antigen Peptide Sequences for RNPEP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H4A4

UniProtKB/Swiss-Prot:

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

Function for RNPEP Gene

Molecular function for RNPEP Gene

GENATLAS Biochemistry:
aminopeptidase B,72.3kDa,zinc dependent,widely expressed
UniProtKB/Swiss-Prot CatalyticActivity:
Release of N-terminal Arg and Lys from oligopeptides when P1 is not Pro. Also acts on arylamides of Arg and Lys.
UniProtKB/Swiss-Prot Function:
Exopeptidase which selectively removes arginine and/or lysine residues from the N-terminus of several peptide substrates including Arg(0)-Leu-enkephalin, Arg(0)-Met-enkephalin and Arg(-1)-Lys(0)-somatostatin-14. Can hydrolyze leukotriene A4 (LTA-4) into leukotriene B4 (LTB-4) (By similarity).

Enzyme Numbers (IUBMB) for RNPEP Gene

Gene Ontology (GO) - Molecular Function for RNPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity NAS 12119107
GO:0004301 epoxide hydrolase activity NAS 12119107
GO:0008233 peptidase activity IEA --
GO:0008235 metalloexopeptidase activity NAS 12119107
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with RNPEP: view
genes like me logo Genes that share phenotypes with RNPEP: view

Animal Model Products

miRNA for RNPEP Gene

miRTarBase miRNAs that target RNPEP

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for RNPEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNPEP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNPEP Gene COMPARTMENTS Subcellular localization image for RNPEP gene
Compartment Confidence
extracellular 5
plasma membrane 5
nucleus 4
cytosol 3
golgi apparatus 2
endoplasmic reticulum 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for RNPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS 10467730
GO:0005615 extracellular space IEA --
GO:0005886 plasma membrane TAS 10467730
GO:0030141 secretory granule IBA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with RNPEP: view

Pathways & Interactions for RNPEP Gene

SuperPathways for RNPEP Gene

No Data Available

Gene Ontology (GO) - Biological Process for RNPEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IC 12119107
GO:0043171 peptide catabolic process IBA --
GO:0045776 negative regulation of blood pressure IBA --
genes like me logo Genes that share ontologies with RNPEP: view

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

Drugs & Compounds for RNPEP Gene

(8) Drugs for RNPEP Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2231
bestatin Pharma Inhibition, Inhibitor Aminopeptidase inhibitor 0

(2) Additional Compounds for RNPEP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for RNPEP Gene

Compound Action Cas Number
Bestatin Aminopeptidase inhibitor 58970-76-6
genes like me logo Genes that share compounds with RNPEP: view

Drug Products

Transcripts for RNPEP Gene

Unigene Clusters for RNPEP Gene

Arginyl aminopeptidase (aminopeptidase B):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - - - - -
SP9: - - - - - - - -
SP10: -
SP11:
SP12:
SP13:

ExUns: 13
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for RNPEP Gene

GeneLoc Exon Structure for
RNPEP
ECgene alternative splicing isoforms for
RNPEP

Expression for RNPEP Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Protein tissue co-expression partners for RNPEP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNPEP Gene:

RNPEP

SOURCE GeneReport for Unigene cluster for RNPEP Gene:

Hs.497391
genes like me logo Genes that share expression patterns with RNPEP: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RNPEP Gene

Orthologs for RNPEP Gene

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

Orthologs for RNPEP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNPEP 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia RNPEP 34 35
  • 89.36 (n)
oppossum
(Monodelphis domestica)
Mammalia RNPEP 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnpep 34 16 35
  • 87.08 (n)
rat
(Rattus norvegicus)
Mammalia Rnpep 34
  • 86.37 (n)
cow
(Bos Taurus)
Mammalia RNPEP 34 35
  • 84.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNPEP 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNPEP 34 35
  • 72.79 (n)
lizard
(Anolis carolinensis)
Reptilia RNPEP 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnpep 34
  • 67.05 (n)
Str.7070 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8765 34
zebrafish
(Danio rerio)
Actinopterygii rnpep 34 35
  • 65.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAP2 35
  • 30 (a)
OneToMany
Species where no ortholog for RNPEP 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 RNPEP Gene

ENSEMBL:
Gene Tree for RNPEP (if available)
TreeFam:
Gene Tree for RNPEP (if available)

Paralogs for RNPEP Gene

Paralogs for RNPEP Gene

(2) SIMAP similar genes for RNPEP Gene using alignment to 5 proteins:

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

Variants for RNPEP Gene

Sequence variations from dbSNP and Humsavar for RNPEP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10449263 -- 201,993,758(+) tgggc(A/G)acaga intron-variant
rs10465589 -- 201,985,496(+) aagcc(A/G)tctgc intron-variant
rs10588118 -- 201,982,163(+) GTGTT(-/AGAC)AGGTT upstream-variant-2KB
rs10625357 -- 201,997,766(+) ATTAG(-/TT/TTT/TTTT)TTTTT intron-variant
rs10737576 -- 201,993,196(+) TCCCT(C/T)ACATG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv1113212 CNV deletion 24896259

Variation tolerance for RNPEP Gene

Residual Variation Intolerance Score: 49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.61; 86.24% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNPEP Gene

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

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

Disorders for RNPEP Gene

MalaCards: The human disease database

(6) MalaCards diseases for RNPEP Gene - From: DISEASES

Disorder Aliases PubMed IDs
carpal tunnel syndrome, familial
  • carpal tunnel syndrome
nerve compression syndrome
  • compression neuropathy
focal hand dystonia
  • organic writer's cramp
congenital stationary night blindness
  • congenital essential nyctalopia
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
- elite association - COSMIC cancer census association via MalaCards
Search RNPEP in MalaCards View complete list of genes associated with diseases

Relevant External Links for RNPEP

Genetic Association Database (GAD)
RNPEP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNPEP
genes like me logo Genes that share disorders with RNPEP: view

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

Publications for RNPEP Gene

  1. GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. (PMID: 21862451) Benyamin B. … Whitfield J.B. (Hum. Mol. Genet. 2011) 3 46 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. Aminopeptidase B (EC 3.4.11.6). (PMID: 10467730) Foulon T. … Cohen P. (Int. J. Biochem. Cell Biol. 1999) 2 3 64
  4. Assignment of the aminopeptidase B gene (RNPEP) to human chromosome 1 band q32 by in situ hybridization. (PMID: 9533033) Aurich-Costa J. … Cohen P. (Cytogenet. Cell Genet. 1997) 2 3 64
  5. Characterization and purification of T lymphocyte aminopeptidase B: a putative marker of T cell activation. (PMID: 8344358) Belhacene N. … Auberger P. (Eur. J. Immunol. 1993) 3 22 64

Products for RNPEP Gene

Sources for RNPEP Gene

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