Human Gene RNPEP (uc001gxe.3) Description and Page Index
  Description: Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:201,951,766-201,975,275 Size: 23,510 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr1:201,966,490-201,974,844 Size: 8,355 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:201,951,766-201,975,275)mRNA (may differ from genome)Protein (351 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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H-INVHGNCHPRDLynxMGIneXtProt
PubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AMPB_HUMAN
DESCRIPTION: RecName: Full=Aminopeptidase B; Short=AP-B; EC=3.4.11.6; AltName: Full=Arginine aminopeptidase; AltName: Full=Arginyl aminopeptidase;
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).
CATALYTIC ACTIVITY: Release of N-terminal Arg and Lys from oligopeptides when P1' is not Pro. Also acts on arylamides of Arg and Lys.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Belongs to the peptidase M1 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RNPEP
CDC HuGE Published Literature: RNPEP
Positive Disease Associations: Butyrylcholinesterase , Pancreatic Neoplasms
Related Studies:
  1. Butyrylcholinesterase
    Beben Benyamin et al. Human molecular genetics 2011, GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors., Human molecular genetics. [PubMed 21862451]
  2. Pancreatic Neoplasms
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: RNPEP
Diseases sorted by gene-association score: carpal tunnel syndrome, familial (2), nerve compression syndrome (2), focal hand dystonia (2), congenital stationary night blindness (1), amyotrophic lateral sclerosis 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.66 RPKM in Small Intestine - Terminal Ileum
Total median expression: 918.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -434.20923-0.470 Picture PostScript Text
3' UTR -122.60431-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016024 - ARM-type_fold
IPR015571 - Pept_M1_aminopeptidase-B
IPR001930 - Peptidase_M1
IPR015211 - Peptidase_M1_C
IPR014782 - Peptidase_M1_N

Pfam Domains:
PF01433 - Peptidase family M1 domain
PF09127 - Leukotriene A4 hydrolase, C-terminal

SCOP Domains:
48371 - ARM repeat
55486 - Metalloproteases ("zincins"), catalytic domain

ModBase Predicted Comparative 3D Structure on Q9H4A4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004177 aminopeptidase activity
GO:0004301 epoxide hydrolase activity
GO:0008233 peptidase activity
GO:0008235 metalloexopeptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0042277 peptide binding
GO:0046872 metal ion binding
GO:0070006 metalloaminopeptidase activity

Biological Process:
GO:0006508 proteolysis
GO:0043171 peptide catabolic process
GO:0045776 negative regulation of blood pressure

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0030141 secretory granule
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF205364 - JP 2014500723-A/12867: Polycomb-Associated Non-Coding RNAs.
AK129946 - Homo sapiens cDNA FLJ26436 fis, clone KDN02020.
MA440941 - JP 2018138019-A/12867: Polycomb-Associated Non-Coding RNAs.
LF383643 - JP 2014500723-A/191146: Polycomb-Associated Non-Coding RNAs.
AK097372 - Homo sapiens cDNA FLJ40053 fis, clone TBAES2000255, highly similar to AMINOPEPTIDASE B (EC 3.4.11.6).
BC001064 - Homo sapiens arginyl aminopeptidase (aminopeptidase B), mRNA (cDNA clone MGC:2412 IMAGE:2823082), complete cds.
BC012166 - Homo sapiens arginyl aminopeptidase (aminopeptidase B), mRNA (cDNA clone MGC:20408 IMAGE:4636934), complete cds.
AJ242586 - Homo sapiens mRNA for aminopeptidase B (RNPEP gene).
DQ896012 - Synthetic construct Homo sapiens clone IMAGE:100010472; FLH189486.01L; RZPDo839F0964D arginyl aminopeptidase (aminopeptidase B) (RNPEP) gene, encodes complete protein.
EU176398 - Synthetic construct Homo sapiens clone IMAGE:100006483; FLH189493.01X; RZPDo839C03252D arginyl aminopeptidase (aminopeptidase B) (RNPEP) gene, encodes complete protein.
AJ296161 - Homo sapiens partial mRNA for aminopeptidase B (APB gene).
AL390139 - Homo sapiens mRNA; cDNA DKFZp547H084 (from clone DKFZp547H084).
AK026644 - Homo sapiens cDNA: FLJ22991 fis, clone KAT11853, highly similar to HSU49278 Homo sapiens UEV-1 (UBE2V) mRNA.
JD020603 - Sequence 1627 from Patent EP1572962.
JD035464 - Sequence 16488 from Patent EP1572962.
Z36876 - H.sapiens (xs160) mRNA, 389bp.
LF319684 - JP 2014500723-A/127187: Polycomb-Associated Non-Coding RNAs.
LF319682 - JP 2014500723-A/127185: Polycomb-Associated Non-Coding RNAs.
LF319681 - JP 2014500723-A/127184: Polycomb-Associated Non-Coding RNAs.
LF319680 - JP 2014500723-A/127183: Polycomb-Associated Non-Coding RNAs.
LF319679 - JP 2014500723-A/127182: Polycomb-Associated Non-Coding RNAs.
JD417344 - Sequence 398368 from Patent EP1572962.
JD378741 - Sequence 359765 from Patent EP1572962.
JD373443 - Sequence 354467 from Patent EP1572962.
JD527843 - Sequence 508867 from Patent EP1572962.
JD061889 - Sequence 42913 from Patent EP1572962.
JD196945 - Sequence 177969 from Patent EP1572962.
JD187469 - Sequence 168493 from Patent EP1572962.
JD566705 - Sequence 547729 from Patent EP1572962.
JD259961 - Sequence 240985 from Patent EP1572962.
JD167155 - Sequence 148179 from Patent EP1572962.
JD268545 - Sequence 249569 from Patent EP1572962.
MA619220 - JP 2018138019-A/191146: Polycomb-Associated Non-Coding RNAs.
MA555261 - JP 2018138019-A/127187: Polycomb-Associated Non-Coding RNAs.
MA555259 - JP 2018138019-A/127185: Polycomb-Associated Non-Coding RNAs.
MA555258 - JP 2018138019-A/127184: Polycomb-Associated Non-Coding RNAs.
MA555257 - JP 2018138019-A/127183: Polycomb-Associated Non-Coding RNAs.
MA555256 - JP 2018138019-A/127182: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AL390139, AMPB_HUMAN, APB, Q9BVM9, Q9H1D4, Q9H4A4, Q9NPT7
UCSC ID: uc001gxe.3
RefSeq Accession: NM_020216
Protein: Q9H4A4 (aka AMPB_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AL390139.1
exon count: 10CDS single in 3' UTR: no RNA size: 2139
ORF size: 1056CDS single in intron: no Alignment % ID: 99.90
txCdsPredict score: 1635.00frame shift in genome: no % Coverage: 97.66
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.