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Aliases for PAMR1 Gene

Aliases for PAMR1 Gene

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

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 Duchenne Muscular Dystrophy. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is MASP2.

UniProtKB/Swiss-Prot for PAMR1 Gene

  • May play a role in regeneration of skeletal muscle.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAMR1 Gene

Genomics for PAMR1 Gene

Regulatory Elements for PAMR1 Gene

Enhancers for PAMR1 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
GH11F035579 1.2 Ensembl ENCODE 19.9 -51.9 -51925 5.6 ELF3 TBP HDAC1 ATF1 RAD21 RFX5 SMARCC2 FOS ETV6 EGR2 PAMR1 TRIM44 ENSG00000254669 GC11P035579
GH11F035558 1 ENCODE 19.1 -28.5 -28544 1.4 ELF3 HDAC1 CBX3 ARNT NFRKB ZNF766 ETV6 FOS CEBPB HDAC8 PAMR1 FJX1 GC11P035579
GH11F035553 0.9 FANTOM5 ENCODE 18.5 -24.5 -24476 2.2 CTCF BHLHE40 ZIC2 NR2F2 JUND GATA3 FOS MAFK TRIM28 PAMR1 LDLRAD3 FJX1 GC11P035579
GH11F035548 1.2 FANTOM5 Ensembl ENCODE 8.9 -19.6 -19641 2.2 GFI1B BHLHE40 JUND GATA3 SMARCA4 ZNF600 FOS MAFK PRDM1 PAMR1 GC11P035579
GH11F035563 0.6 Ensembl ENCODE 17.8 -33.4 -33446 1.2 BHLHE40 PAMR1 GC11P035579
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PAMR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAMR1 Gene

Chromosome:
11
Start:
35,431,823 bp from pter
End:
35,530,300 bp from pter
Size:
98,478 bases
Orientation:
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:
    Q6UXH9-PAMR1_HUMAN
    Recommended name:
    Inactive serine protease PAMR1
    Protein Accession:
    Q6UXH9
    Secondary Accessions:
    • A8MQ58
    • B7ZA73
    • Q5EBL7
    • Q5JPI4
    • Q6N062
    • Q71RE9
    • Q96JW2
    • Q9Y432

    Protein attributes for PAMR1 Gene

    Size:
    720 amino acids
    Molecular mass:
    80199 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAQ15224.1; Type=Frameshift; Positions=334; Evidence={ECO:0000305};

    Alternative splice isoforms for PAMR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAMR1 Gene

Post-translational modifications for PAMR1 Gene

  • Glycosylation at Asn 614
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PAMR1 Gene

Domains & Families for PAMR1 Gene

Gene Families for PAMR1 Gene

Suggested Antigen Peptide Sequences for PAMR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXH9

UniProtKB/Swiss-Prot:

PAMR1_HUMAN :
  • Contains 1 CUB domain.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 1 CUB domain.
  • Contains 1 EGF-like domain.
  • Contains 1 peptidase S1 domain.
  • Contains 2 Sushi (CCP/SCR) domains.
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.

Gene Ontology (GO) - Molecular Function for PAMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

miRNA for PAMR1 Gene

miRTarBase miRNAs that target PAMR1

Inhibitory RNA Products

Flow Cytometry Products

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

Secreted.

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

Gene Ontology (GO) - Cellular Components for PAMR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
genes like me logo Genes that share ontologies with PAMR1: view

Pathways & Interactions for PAMR1 Gene

SuperPathways for PAMR1 Gene

No Data Available

Interacting Proteins for PAMR1 Gene

Selected Interacting proteins: Q6UXH9-PAMR1_HUMAN for PAMR1 Gene via IID

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

Transcripts for PAMR1 Gene

Unigene Clusters for PAMR1 Gene

Peptidase domain containing associated with muscle regeneration 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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: - - -
SP3:
SP4:

Relevant External Links for PAMR1 Gene

GeneLoc Exon Structure for
PAMR1
ECgene alternative splicing isoforms for
PAMR1

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



NURSA nuclear receptor signaling pathways regulating expression of PAMR1 Gene:

PAMR1

SOURCE GeneReport for Unigene cluster for PAMR1 Gene:

Hs.55044
genes like me logo Genes that share expression patterns with PAMR1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia PAMR1 34 35
  • 99.1 (n)
cow
(Bos Taurus)
Mammalia PAMR1 34 35
  • 87.92 (n)
dog
(Canis familiaris)
Mammalia PAMR1 34 35
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Pamr1 34 16 35
  • 86.11 (n)
rat
(Rattus norvegicus)
Mammalia Pamr1 34
  • 86.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAMR1 35
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAMR1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAMR1 34 35
  • 74.99 (n)
lizard
(Anolis carolinensis)
Reptilia PAMR1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pamr1 34
  • 68.47 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC560295 34
  • 53.58 (n)
PAMR1 35
  • 30 (a)
OneToOne
Species where no ortholog for PAMR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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 PAMR1 Gene

ENSEMBL:
Gene Tree for PAMR1 (if available)
TreeFam:
Gene Tree for PAMR1 (if available)

Paralogs for PAMR1 Gene

Paralogs for PAMR1 Gene

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

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

Variants for PAMR1 Gene

Sequence variations from dbSNP and Humsavar for PAMR1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1010394 -- 35,521,034(-) AGAGC(C/G)CGTAA intron-variant
rs10128654 -- 35,444,982(+) gaatg(G/T)ttttc intron-variant
rs10219201 -- 35,437,632(+) TGCCT(A/G)TCTTC intron-variant
rs1048193 -- 35,432,170(-) GCCGC(C/G)TCCAC utr-variant-3-prime
rs10501139 -- 35,465,498(+) TAGAC(C/T)GCTCT intron-variant

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

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

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)

Relevant External Links for PAMR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAMR1

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

Disorders for PAMR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
duchenne muscular dystrophy
  • muscular dystrophy, duchenne type
- elite association - COSMIC cancer census association via MalaCards
Search PAMR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PAMR1

Genetic Association Database (GAD)
PAMR1
Human Genome Epidemiology (HuGE) Navigator
PAMR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAMR1
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. (Am. J. Pathol. 2004) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 H.F. … Gray A.M. (Genome Res. 2003) 3 4 64
  5. Identification of novel epigenetically inactivated gene PAMR1 in breast carcinoma. (PMID: 25370079) Lo P.H. … Matsuda K. (Oncol. Rep. 2015) 3 64

Products for PAMR1 Gene

Sources for PAMR1 Gene

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