Aliases for MEP1A Gene

Aliases for MEP1A Gene

  • Meprin A Subunit Alpha 2 3 4 5
  • PABA Peptide Hydrolase 2 3 4
  • N-Benzoyl-L-Tyrosyl-P-Amino-Benzoic Acid Hydrolase Subunit Alpha 3 4
  • Meprin A, Alpha (PABA Peptide Hydrolase) 2 3
  • Endopeptidase-2 3 4
  • EC 3.4.24.18 4 51
  • PPH Alpha 3 4
  • PPHA 2 3
  • BA268F1.1 (Meprin A Alpha (PABA Peptide Hydrolase)) 3
  • EC 3.4.24 51
  • MEP1A 5

External Ids for MEP1A Gene

Previous GeneCards Identifiers for MEP1A Gene

  • GC06U990080
  • GC06P046757
  • GC06P046807
  • GC06P046869
  • GC06P046484

Summaries for MEP1A Gene

GeneCards Summary for MEP1A Gene

MEP1A (Meprin A Subunit Alpha) is a Protein Coding gene. Diseases associated with MEP1A include Powassan Encephalitis and Colorado Tick Fever. Among its related pathways are Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity and metallopeptidase activity. An important paralog of this gene is MEP1B.

Gene Wiki entry for MEP1A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MEP1A Gene

Genomics for MEP1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MEP1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J046793 Promoter/Enhancer 0.9 EPDnew ENCODE 250.7 -0.1 -82 0.2 FOXA2 RARA BCL6 CREM HNF4A HHEX ZNF652 NR2F6 ARID3A MIXL1 MEP1A piR-56037-035 ANKRD66
GH06J046792 Enhancer 0.2 Ensembl 250.7 -0.8 -783 0.4 MEP1A piR-56037-035 ANKRD66
GH06J046770 Enhancer 1 FANTOM5 ENCODE 11.2 -20.9 -20945 3.7 CEBPA HES1 CEBPB GABPA ETV4 KDM1A SPI1 POLR2A MYC MAX lnc-ANKRD66-1 PLA2G7 MEP1A TDRD6 ENSG00000236164 ANKRD66
GH06J046989 Enhancer 0.9 Ensembl ENCODE 10.1 +196.9 196917 2.6 ZNF217 CTCF ELF1 REST RXRA SMC3 RAD21 TBP TCF7L2 ZNF2 ADGRF5 ADGRF5-AS1 PLA2G7 MEP1A lnc-ADGRF5-1 HSALNG0050389 ADGRF1
GH06J046946 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 9.7 +154.9 154946 3.8 ZSCAN4 NR2F2 MEP1A PLA2G7 ADGRF5 HSALNG0050387
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MEP1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MEP1A

Top Transcription factor binding sites by QIAGEN in the MEP1A gene promoter:
  • AML1a
  • AP-4
  • E4BP4
  • HNF-4alpha1
  • HNF-4alpha2
  • Lmo2
  • PPAR-gamma1
  • PPAR-gamma2
  • S8
  • STAT1

Genomic Locations for MEP1A Gene

Latest Assembly
chr6:46,793,384-46,845,987
(GRCh38/hg38)
Size:
52,604 bases
Orientation:
Plus strand

Previous Assembly
chr6:46,761,126-46,807,515
(GRCh37/hg19 by Entrez Gene)
Size:
46,390 bases
Orientation:
Plus strand

chr6:46,761,127-46,807,515
(GRCh37/hg19 by Ensembl)
Size:
46,389 bases
Orientation:
Plus strand

Genomic View for MEP1A Gene

Genes around MEP1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MEP1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MEP1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MEP1A Gene

Proteins for MEP1A Gene

  • Protein details for MEP1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16819-MEP1A_HUMAN
    Recommended name:
    Meprin A subunit alpha
    Protein Accession:
    Q16819
    Secondary Accessions:
    • A2RRM4
    • B0AZP9
    • B2RCS2
    • Q8TDC9
    • Q9H1R1

    Protein attributes for MEP1A Gene

    Size:
    746 amino acids
    Molecular mass:
    84419 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotetramer consisting of disulfide-linked alpha subunits, homooligomer consisting of disulfide-linked alpha subunit homodimers, or heterotetramer of two alpha and two beta subunits formed by non-covalent association of two disulfide-linked heterodimers (By similarity). Interacts with MBL2 through its carbohydrate moiety. This interaction may inhibit its catalytic activity (By similarity).

neXtProt entry for MEP1A Gene

Selected DME Specific Peptides for MEP1A Gene

Q16819:
  • SRTDRDD
  • LNTPYDY
  • HEILHALGF

Post-translational modifications for MEP1A Gene

  • N-glycosylated; contains GlcNAc, galactose, mannose and a small amount of fucose.
  • Glycosylation at Asn140, Asn222, Asn258, Asn414, Asn440, Asn447, and Asn539
  • Modification sites at PhosphoSitePlus

Other Protein References for MEP1A Gene

Domains & Families for MEP1A Gene

Gene Families for MEP1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for MEP1A Gene

InterPro:
Blocks:
  • Type I EGF
  • Astacin family signature
  • MAM domain signature
  • Meprin/TRAF-like MATH
ProtoNet:

Suggested Antigen Peptide Sequences for MEP1A Gene

GenScript: Design optimal peptide antigens:
  • MEP1A protein (B7ZL91_HUMAN)
  • PPH alpha (MEP1A_HUMAN)
genes like me logo Genes that share domains with MEP1A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MEP1A Gene

Function for MEP1A Gene

Molecular function for MEP1A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of protein and peptide substrates preferentially on carboxyl side of hydrophobic residues.; EC=3.4.24.18;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=110 uM for GRP {ECO:0000269|PubMed:17976009}; KM=18.0 uM for PTH 12-34 {ECO:0000269|PubMed:17976009}; KM=33.9 uM for secretin {ECO:0000269|PubMed:17976009}; KM=41.3 uM for substance P {ECO:0000269|PubMed:17976009}; KM=56.5 uM for LHRH {ECO:0000269|PubMed:17976009}; KM=73.2 uM for orcokinin {ECO:0000269|PubMed:17976009}; KM=292 uM for alpha-MSH {ECO:0000269|PubMed:17976009}; KM=125 uM for bradykinin {ECO:0000269|PubMed:17976009}; KM=200 uM for gastrin {ECO:0000269|PubMed:17976009};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by several hydroxamate compounds, the most potent inhibitor is actinonin.
GENATLAS Biochemistry:
zinc metalloendopeptidase 1,meprin,alpha subunit,astacin family of metalloendopeptidases

Enzyme Numbers (IUBMB) for MEP1A Gene

Phenotypes From GWAS Catalog for MEP1A Gene

Gene Ontology (GO) - Molecular Function for MEP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA,IBA 21873635
GO:0005515 protein binding IEA,IPI 9288916
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MEP1A: view
genes like me logo Genes that share phenotypes with MEP1A: view

Animal Models for MEP1A Gene

MGI Knock Outs for MEP1A:
  • Mep1a Mep1a<tm1a(KOMP)Wtsi>
  • Mep1a Mep1a<tm1Bond>

Animal Models for research

  • Taconic Biosciences Mouse Models for MEP1A

miRNA for MEP1A Gene

miRTarBase miRNAs that target MEP1A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MEP1A

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MEP1A Gene

Localization for MEP1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for MEP1A Gene

Membrane. Single-pass type I membrane protein.

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 MEP1A gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MEP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space TAS 8262185
GO:0005887 integral component of plasma membrane TAS 8262185
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0017090 meprin A complex IDA 9288916
genes like me logo Genes that share ontologies with MEP1A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MEP1A Gene

Pathways & Interactions for MEP1A Gene

PathCards logo

SuperPathways for MEP1A Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
genes like me logo Genes that share pathways with MEP1A: view

Pathways by source for MEP1A Gene

1 KEGG pathway for MEP1A Gene

SIGNOR curated interactions for MEP1A Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MEP1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with MEP1A: view

Drugs & Compounds for MEP1A Gene

No Compound Related Data Available

Transcripts for MEP1A Gene

mRNA/cDNA for MEP1A Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 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 MEP1A

Alternative Splicing Database (ASD) splice patterns (SP) for MEP1A Gene

No ASD Table

Relevant External Links for MEP1A Gene

GeneLoc Exon Structure for
MEP1A

Expression for MEP1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MEP1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MEP1A Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x34.9) and Colon - Transverse (x16.7).

Protein differential expression in normal tissues from HIPED for MEP1A Gene

This gene is overexpressed in Pancreatic juice (56.5) and Fetal gut (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MEP1A Gene



Protein tissue co-expression partners for MEP1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MEP1A

SOURCE GeneReport for Unigene cluster for MEP1A Gene:

Hs.179704

Evidence on tissue expression from TISSUES for MEP1A Gene

  • Intestine(4.8)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with MEP1A: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MEP1A Gene

Orthologs for MEP1A Gene

This gene was present in the common ancestor of animals.

Orthologs for MEP1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MEP1A 30 31
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MEP1A 30 31
  • 86.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MEP1A 30 31
  • 85.39 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mep1a 30 17 31
  • 79.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mep1a 30
  • 79.84 (n)
Oppossum
(Monodelphis domestica)
Mammalia MEP1A 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MEP1A 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MEP1A 30 31
  • 67.57 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MEP1A 31
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mep1a 30
  • 64.5 (n)
Zebrafish
(Danio rerio)
Actinopterygii mep1a.2 30
  • 61.47 (n)
mep1a.1 31
  • 57 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2334 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6696 32
  • 37 (a)
CG15253 31
  • 33 (a)
ManyToMany
BG:BACR44L22.1 32
  • 33 (a)
BG:BACR44L22.6 32
  • 33 (a)
Worm
(Caenorhabditis elegans)
Secernentea T04G9.2 32
  • 38 (a)
4R79.1 32
  • 38 (a)
C05D11.6 32
  • 36 (a)
C07D10.4 32
  • 36 (a)
K04E7.3 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
ManyToMany
Species where no ortholog for MEP1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for MEP1A Gene

ENSEMBL:
Gene Tree for MEP1A (if available)
TreeFam:
Gene Tree for MEP1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MEP1A: view image

Paralogs for MEP1A Gene

(1) SIMAP similar genes for MEP1A Gene using alignment to 2 proteins:

  • MEP1A_HUMAN
  • B7ZL91_HUMAN

Pseudogenes.org Pseudogenes for MEP1A Gene

genes like me logo Genes that share paralogs with MEP1A: view

Variants for MEP1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MEP1A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs763186687 Likely Benign: not provided 46,833,081(+) T/C
NM_005588.3(MEP1A):c.1152T>C (p.Asp384=)
SYNONYMOUS
rs12197930 - p.Arg476Gly
rs1804211 - p.Thr726Met
rs2274658 - p.Val469Leu
rs2297019 - p.Met634Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MEP1A 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 MEP1A Gene

Variant ID Type Subtype PubMed ID
esv1387664 CNV deletion 17803354
esv24845 CNV gain 19812545
esv2535765 CNV deletion 19546169
esv2759425 CNV gain+loss 17122850
esv3567753 CNV deletion 23714750
nsv428147 CNV gain 18775914
nsv476495 CNV novel sequence insertion 20440878
nsv7895 CNV gain 18304495
nsv823683 CNV gain 20364138
nsv823684 CNV gain 20364138
nsv830654 CNV gain 17160897
nsv965722 CNV duplication 23825009

Variation tolerance for MEP1A Gene

Residual Variation Intolerance Score: 34.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.54; 91.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MEP1A Gene

Human Gene Mutation Database (HGMD)
MEP1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MEP1A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MEP1A Gene

Disorders for MEP1A Gene

MalaCards: The human disease database

(3) MalaCards diseases for MEP1A Gene - From: COP

Disorder Aliases PubMed IDs
powassan encephalitis
  • powassan encephalitis virus infection
colorado tick fever
  • tick fever, american mountain
louping ill
- elite association - COSMIC cancer census association via MalaCards
Search MEP1A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MEP1A

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 MEP1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MEP1A Gene

Publications for MEP1A Gene

  1. MEP1A allele for meprin A metalloprotease is a susceptibility gene for inflammatory bowel disease. (PMID: 19262505) Banerjee S … Bond JS (Mucosal immunology 2009) 3 23 41
  2. The structural genes, MEP1A and MEP1B, for the alpha and beta subunits of the metalloendopeptidase meprin map to human chromosomes 6p and 18q, respectively. (PMID: 7774936) Bond JS … Jiang W (Genomics 1995) 2 3 23
  3. Cloning of the PABA peptide hydrolase alpha subunit (PPH alpha) from human small intestine and its expression in COS-1 cells. (PMID: 8262185) Dumermuth E … Sterchi EE (FEBS letters 1993) 3 4 23
  4. Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG. (PMID: 16378686) Norberg A … Holmberg M (Neuroscience letters 2006) 3 41
  5. Structure and expression of the human MEP1A gene encoding the alpha subunit of metalloendopeptidase meprin A. (PMID: 10898933) Jiang W … Le B (Archives of biochemistry and biophysics 2000) 3 23

Products for MEP1A Gene

Sources for MEP1A Gene