Aliases for PAMR1 Gene

Aliases for PAMR1 Gene

  • Peptidase Domain Containing Associated With Muscle Regeneration 1 2 3 5
  • RAMP 2 3 4
  • Peptidase Domain-Containing Protein Associated With Muscle Regeneration 1 3 4
  • Regeneration-Associated Muscle Protease Homolog 3 4
  • Inactive Serine Protease PAMR1 3 4
  • DKFZP586H2123 2 3
  • Regeneration-Associated Muscle Protease 2
  • Regeneration Associated Muscle Protease 3
  • FP938 3
  • PAMR1 5

External Ids for PAMR1 Gene

Previous GeneCards Identifiers for PAMR1 Gene

  • GC11M035410
  • GC11M035152

Summaries for PAMR1 Gene

GeneCards Summary for PAMR1 Gene

PAMR1 (Peptidase Domain Containing Associated With Muscle Regeneration 1) is a Protein Coding gene. Diseases associated with PAMR1 include Fraser Syndrome 1 and Muscular Dystrophy. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is F2.

UniProtKB/Swiss-Prot Summary for PAMR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAMR1 Gene

Genomics for PAMR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAMR1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J035523 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 600.4 +5.5 5544 3.4 PRDM10 ZNF629 ZNF692 ZIC2 PATZ1 ZNF24 SOX6 ZNF341 ZNF561 ZBTB44 PAMR1 HSALNG0083623 SLC1A2
GH11J035529 Enhancer 0.9 Ensembl ENCODE dbSUPER 600.7 -0.4 -401 2.6 ZNF600 JUND CEBPB GATA3 RCOR1 YY1 CHD2 GATA2 POLR2A PAMR1 HSALNG0083625 FJX1
GH11J035579 Enhancer 1.2 Ensembl ENCODE dbSUPER 20 -52.4 -52400 6.6 GATAD2A LEF1 IKZF1 JUND POLR2A ZNF24 DPF2 HDAC1 ETV6 SOX6 PAMR1 TRAF6 TRIM44 ENSG00000254669 HSALNG0083625 FJX1
GH11J035553 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 18.6 -24.5 -24501 2.4 CTCF ZNF629 FOXA1 ZIC2 CEBPB FOS NR2F2 ESR1 GATA3 BHLHE40 PAMR1 LDLRAD3 FJX1 HSALNG0083625
GH11J035563 Enhancer 0.7 Ensembl ENCODE dbSUPER 17.8 -33.3 -33332 1 CEBPB ARNT HSALNG0083625 PAMR1 ENSG00000254669 FJX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAMR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAMR1

Top Transcription factor binding sites by QIAGEN in the PAMR1 gene promoter:
  • AML1a
  • FOXF2
  • FOXO4
  • MIF-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • Nkx2-5
  • Nkx5-1

Genomic Locations for PAMR1 Gene

Genomic Locations for PAMR1 Gene
98,478 bases
Minus strand
98,479 bases
Minus strand

Genomic View for PAMR1 Gene

Genes around PAMR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAMR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAMR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAMR1 Gene

Proteins for PAMR1 Gene

  • Protein details for PAMR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Inactive serine protease PAMR1
    Protein Accession:
    Secondary Accessions:
    • A8MQ58
    • B7ZA73
    • Q5EBL7
    • Q5JPI4
    • Q6N062
    • Q71RE9
    • Q96JW2
    • Q9Y432

    Protein attributes for PAMR1 Gene

    720 amino acids
    Molecular mass:
    80199 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAQ15224.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for PAMR1 Gene


neXtProt entry for PAMR1 Gene

Post-translational modifications for PAMR1 Gene

  • Glycosylation at Asn614
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PAMR1 Gene

Domains & Families for PAMR1 Gene

Gene Families for PAMR1 Gene

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

Protein Domains for PAMR1 Gene

  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • Type I EGF
  • EGF-like calcium-binding
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for PAMR1 Gene

GenScript: Design optimal peptide antigens:
  • Regeneration-associated muscle protease homolog (PAMR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family.
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PAMR1: view

Function for PAMR1 Gene

Molecular function for PAMR1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in regeneration of skeletal muscle.
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated in muscle cell lines derived from biopsies of 5 Duchenne muscular dystrophy (DMD) patients compared to a normal muscle cell line.

Phenotypes From GWAS Catalog for PAMR1 Gene

Gene Ontology (GO) - Molecular Function for PAMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PAMR1: view
genes like me logo Genes that share phenotypes with PAMR1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PAMR1

CRISPR Products

miRNA for PAMR1 Gene

miRTarBase miRNAs that target PAMR1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAMR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAMR1 Gene

Localization for PAMR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAMR1 Gene


Subcellular locations from

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 PAMR1 gene
Compartment Confidence
extracellular 4
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
mitochondrion 0
lysosome 0

Gene Ontology (GO) - Cellular Components for PAMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PAMR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PAMR1 Gene

Pathways & Interactions for PAMR1 Gene

PathCards logo

SuperPathways for PAMR1 Gene

No Data Available

Interacting Proteins for PAMR1 Gene

Gene Ontology (GO) - Biological Process for PAMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with PAMR1: view

No data available for Pathways by source and SIGNOR curated interactions for PAMR1 Gene

Drugs & Compounds for PAMR1 Gene

No Compound Related Data Available

Transcripts for PAMR1 Gene

mRNA/cDNA for PAMR1 Gene

11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAMR1

Alternative Splicing Database (ASD) splice patterns (SP) for PAMR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13
SP1: - -
SP2: - - -

Relevant External Links for PAMR1 Gene

GeneLoc Exon Structure for

Expression for PAMR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAMR1 Gene

mRNA differential expression in normal tissues according to GTEx for PAMR1 Gene

This gene is overexpressed in Cervix - Endocervix (x4.8).

Protein differential expression in normal tissues from HIPED for PAMR1 Gene

This gene is overexpressed in Serum (52.3) and Gallbladder (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PAMR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAMR1

SOURCE GeneReport for Unigene cluster for PAMR1 Gene:


Evidence on tissue expression from TISSUES for PAMR1 Gene

  • Bone marrow(4.1)
  • Intestine(4.1)
  • Lymph node(4)
  • Nervous system(2.8)
  • Skin(2.5)
  • Heart(2)
genes like me logo Genes that share expression patterns with PAMR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAMR1 Gene

Orthologs for PAMR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PAMR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PAMR1 30 31
  • 99.1 (n)
(Bos Taurus)
Mammalia PAMR1 30 31
  • 87.92 (n)
(Canis familiaris)
Mammalia PAMR1 30 31
  • 87.39 (n)
(Mus musculus)
Mammalia Pamr1 30 17 31
  • 86.11 (n)
(Rattus norvegicus)
Mammalia Pamr1 30
  • 86.09 (n)
(Ornithorhynchus anatinus)
Mammalia PAMR1 31
  • 81 (a)
(Monodelphis domestica)
Mammalia PAMR1 31
  • 80 (a)
(Gallus gallus)
Aves PAMR1 30 31
  • 74.99 (n)
(Anolis carolinensis)
Reptilia PAMR1 31
  • 76 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pamr1 30
  • 68.47 (n)
(Danio rerio)
Actinopterygii LOC560295 30
  • 53.58 (n)
PAMR1 31
  • 30 (a)
Species where no ortholog for PAMR1 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)
  • 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 PAMR1 Gene

Gene Tree for PAMR1 (if available)
Gene Tree for PAMR1 (if available)
Evolutionary constrained regions (ECRs) for PAMR1: view image

Paralogs for PAMR1 Gene

Paralogs for PAMR1 Gene

(5) SIMAP similar genes for PAMR1 Gene using alignment to 5 proteins:

  • A8MQ58_HUMAN
  • E9PQ70_HUMAN
genes like me logo Genes that share paralogs with PAMR1: view

Variants for PAMR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAMR1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs16927482 - p.Ala305Thr

Additional dbSNP identifiers (rs#s) for PAMR1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAMR1 Gene

Variant ID Type Subtype PubMed ID
esv23286 CNV gain 19812545
esv2759819 CNV gain 17122850
esv3625933 CNV loss 21293372
nsv1042014 CNV loss 25217958
nsv1053134 CNV loss 25217958
nsv508624 CNV deletion 20534489
nsv832120 CNV gain 17160897

Variation tolerance for PAMR1 Gene

Residual Variation Intolerance Score: 65% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.23; 81.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAMR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAMR1 Gene

Disorders for PAMR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PAMR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
fraser syndrome 1
  • frasrs1
muscular dystrophy
  • muscular dystrophies
adams-oliver syndrome
  • aos
- elite association - COSMIC cancer census association via MalaCards
Search PAMR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PAMR1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PAMR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAMR1 Gene

Publications for PAMR1 Gene

  1. Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients. (PMID: 15111323) Nakayama Y … Hara T (The American journal of pathology 2004) 2 3 4 23
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  5. Identification of novel epigenetically inactivated gene PAMR1 in breast carcinoma. (PMID: 25370079) Lo PH … Matsuda K (Oncology reports 2015) 3

Products for PAMR1 Gene

Sources for PAMR1 Gene