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Aliases for PRAMEF1 Gene

Aliases for PRAMEF1 Gene

  • PRAME Family Member 1 2 3 5

External Ids for PRAMEF1 Gene

Previous GeneCards Identifiers for PRAMEF1 Gene

  • GC01P012786
  • GC01P012005

Summaries for PRAMEF1 Gene

Entrez Gene Summary for PRAMEF1 Gene

  • This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]

GeneCards Summary for PRAMEF1 Gene

PRAMEF1 (PRAME Family Member 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include retinoic acid receptor binding. An important paralog of this gene is PRAMEF14.

Additional gene information for PRAMEF1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRAMEF1 Gene

Genomics for PRAMEF1 Gene

GeneHancer (GH) Regulatory Elements for PRAMEF1 Gene

Promoters and enhancers for PRAMEF1 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
GH01I012791 Promoter 0.5 EPDnew 550.8 0.0 -19 0.1 PRAMEF1 PRAMEF12
GH01I012425 Enhancer 0.4 FANTOM5 dbSUPER 1.8 -365.8 -365751 0.2 AADACL4 DHRS3 RNU6ATAC18P SNORA59A PRAMEF1 GC01P012422 GC01M012433 VPS13D
GH01I012810 Enhancer 0.7 ENCODE 0.4 +19.6 19566 0.5 HDAC1 MEIS2 PKNOX1 FOSL1 CTBP1 ZNF316 ZNF766 NFE2 MAFK SMARCE1 LINC01784 PRAMEF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PRAMEF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRAMEF1 gene promoter:

Genomic Locations for PRAMEF1 Gene

Genomic Locations for PRAMEF1 Gene
5,232 bases
Plus strand

Genomic View for PRAMEF1 Gene

Genes around PRAMEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRAMEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRAMEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRAMEF1 Gene

Proteins for PRAMEF1 Gene

  • Protein details for PRAMEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    PRAME family member 1
    Protein Accession:
    Secondary Accessions:
    • Q9UQP2

    Protein attributes for PRAMEF1 Gene

    474 amino acids
    Molecular mass:
    55149 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRAMEF1 Gene

Post-translational modifications for PRAMEF1 Gene

No Post-translational modifications

Other Protein References for PRAMEF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRAMEF1 Gene

Domains & Families for PRAMEF1 Gene

Gene Families for PRAMEF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRAMEF1 Gene


Suggested Antigen Peptide Sequences for PRAMEF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the PRAME family.
  • Belongs to the PRAME family.
genes like me logo Genes that share domains with PRAMEF1: view

Function for PRAMEF1 Gene

genes like me logo Genes that share phenotypes with PRAMEF1: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PRAMEF1 Gene

Localization for PRAMEF1 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 PRAMEF1 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PRAMEF1 Gene

Pathways & Interactions for PRAMEF1 Gene

SuperPathways for PRAMEF1 Gene

No Data Available

Interacting Proteins for PRAMEF1 Gene

Gene Ontology (GO) - Biological Process for PRAMEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IEA --
GO:0043066 negative regulation of apoptotic process IEA --
GO:0045596 negative regulation of cell differentiation IEA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PRAMEF1: view

No data available for Pathways by source and SIGNOR curated interactions for PRAMEF1 Gene

Drugs & Compounds for PRAMEF1 Gene

No Compound Related Data Available

Transcripts for PRAMEF1 Gene

mRNA/cDNA for PRAMEF1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRAMEF1 Gene

PRAME family member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRAMEF1 Gene

No ASD Table

Relevant External Links for PRAMEF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRAMEF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRAMEF1 Gene

mRNA differential expression in normal tissues according to GTEx for PRAMEF1 Gene

This gene is overexpressed in Testis (x36.9).

NURSA nuclear receptor signaling pathways regulating expression of PRAMEF1 Gene:


SOURCE GeneReport for Unigene cluster for PRAMEF1 Gene:

genes like me logo Genes that share expression patterns with PRAMEF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRAMEF1 Gene

Orthologs for PRAMEF1 Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for PRAMEF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia -- 34
  • 90 (a)
(Mus musculus)
Mammalia Gm12790 34
  • 34 (a)
Species where no ortholog for PRAMEF1 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PRAMEF1 Gene

Gene Tree for PRAMEF1 (if available)
Gene Tree for PRAMEF1 (if available)

Paralogs for PRAMEF1 Gene

genes like me logo Genes that share paralogs with PRAMEF1: view

Variants for PRAMEF1 Gene

Sequence variations from dbSNP and Humsavar for PRAMEF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs76193255 benign, not specified 12,793,948(+) T/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs76648802 benign, not specified 12,793,956(+) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1000459559 -- 12,792,001(+) A/G genic_upstream_transcript_variant, intron_variant
rs1001098281 -- 12,791,833(+) A/G genic_upstream_transcript_variant, intron_variant
rs1001177669 -- 12,790,175(+) C/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRAMEF1 Gene

Variant ID Type Subtype PubMed ID
nsv545462 CNV gain 21841781
nsv545457 CNV loss 21841781
nsv545445 CNV gain 21841781
nsv528703 CNV loss 19592680
nsv471539 CNV gain 19718026
nsv470695 CNV loss 18288195
nsv466394 CNV gain 19166990
nsv442270 CNV gain+loss 18776908
nsv1161105 CNV deletion 26073780
nsv1161102 CNV deletion 26073780
nsv1160970 CNV deletion 26073780
nsv1128587 CNV duplication 24896259
nsv1075769 CNV duplication 25765185
nsv1011540 CNV loss 25217958
nsv1008359 CNV gain 25217958
nsv1008195 CNV gain+loss 25217958
nsv1006524 CNV gain+loss 25217958
nsv1004622 CNV loss 25217958
esv990214 CNV gain 20482838
esv3891748 CNV gain+loss 25118596
esv3891525 CNV loss 25118596
esv3891414 CNV gain+loss 25118596
esv3891303 CNV gain+loss 25118596
esv3891192 CNV gain+loss 25118596
esv3585243 CNV gain 21293372
esv3585242 CNV loss 21293372
esv3585241 CNV loss 21293372
esv3584586 CNV loss 24956385
esv32750 CNV gain 17666407
esv28644 CNV gain+loss 19812545
esv2669351 CNV deletion 23128226
esv2421662 OTHER complex 20811451
dgv7n111 CNV deletion 26073780
dgv6n27 CNV loss 19166990
dgv6n111 CNV duplication 26073780
dgv5n27 CNV gain 19166990
dgv33n100 CNV loss 25217958
dgv32n100 CNV loss 25217958
dgv28n100 CNV gain+loss 25217958
dgv27n100 CNV gain+loss 25217958
dgv24n100 CNV loss 25217958
dgv23n100 CNV loss 25217958
dgv21n100 CNV loss 25217958
dgv20n100 CNV loss 25217958
dgv19n100 CNV loss 25217958
dgv15n67 CNV loss 20364138
dgv14n67 CNV gain 20364138
dgv13n67 CNV loss 20364138
dgv120n54 CNV loss 21841781
dgv119n54 CNV loss 21841781
dgv118n54 CNV gain 21841781
dgv117n54 CNV gain+loss 21841781
dgv116n54 CNV loss 21841781
dgv115n54 CNV loss 21841781
dgv114n54 CNV gain 21841781
nsv999658 CNV gain 25217958
nsv955254 CNV duplication 24416366
nsv945774 CNV duplication 23825009
nsv8768 CNV gain+loss 18304495
nsv832869 CNV gain+loss 17160897
nsv821559 CNV duplication 20802225

Variation tolerance for PRAMEF1 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRAMEF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRAMEF1 Gene

Disorders for PRAMEF1 Gene

Additional Disease Information for PRAMEF1

No disorders were found for PRAMEF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRAMEF1 Gene

Publications for PRAMEF1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  2. Duplication and positive selection among hominin-specific PRAME genes. (PMID: 16159394) Birtle Z … Ponting C (BMC genomics 2005) 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for PRAMEF1 Gene

Sources for PRAMEF1 Gene

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