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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRAMEF1 Gene

protein-coding   GIFtS: 41
GCID: GC01P012853

PRAME family member 1

 Explore 1 disease affiliated with
PRAMEF1 via our new
 Human Malady Compendium 
Biological research products
for PRAMEF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
PRAME Family Member 11 2

External Ids:    HGNC: 288401   Entrez Gene: 651212   Ensembl: ENSG000001167217   UniProtKB: O955213   

Export aliases for PRAMEF1 gene to outside databases

Previous GC identifers: GC01P012786 GC01P012005


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRAMEF1:
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. (provided by RefSeq, Sep 2011)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRAMEF1 gene promoter:
         HOXA9B   HOXA9   GR   E47   PPAR-alpha   PPAR-gamma1   PPAR-gamma2   GR-alpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRAMEF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRAMEF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRAMEF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.21   Ensembl cytogenetic band:  1p36.21   HGNC cytogenetic band: 1p36.21

PRAMEF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRAMEF1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P012853:  view genomic region     (about GC identifiers)

Start:
12,851,546 bp from pter      End:
12,856,777 bp from pter
Size:
5,232 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PRAM1_HUMAN, O95521 (See protein sequence)
Recommended Name: PRAME family member 1  
Size: 474 amino acids; 55162 Da
Secondary accessions: Q9UQP2

Explore the universe of human proteins at neXtProt for PRAMEF1: NX_O95521

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95521

  • PRAMEF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_075389.1  
    ENSEMBL proteins: 
     ENSP00000332134   ENSP00000383616  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PRAMEF1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR026292 PRAME/Leu_rich_rep-con_p14
     IPR026271 PRAME_family

    Graphical View of Domain Structure for InterPro Entry O95521

    ProtoNet protein and cluster: O95521

    UniProtKB/Swiss-Prot: PRAM1_HUMAN, O95521
    Similarity: Belongs to the PRAME family
    Similarity: Contains 2 LRR (leucine-rich) repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042974retinoic acid receptor binding IEA--


    PRAMEF1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRAMEF1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for PRAMEF1 (ENSP000003321344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRAMEF12ENSP000003503584STRING: ENSP00000350358
    TM2D1ENSP000003602224STRING: ENSP00000360222
    --ENSP000004088074STRING: ENSP00000408807
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0043066negative regulation of apoptotic process IEA--
    GO:0045596negative regulation of cell differentiation IEA--
    GO:0045892negative regulation of transcription, DNA-dependent IEA--
    GO:0048387negative regulation of retinoic acid receptor signaling pathway IEA--


    PRAMEF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PRAMEF1
    Search CenterWatch for drugs/clinical trials and news about PRAMEF1 / PRAM1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PRAMEF1 gene: 
    NM_023013.2  

    Unigene Cluster for PRAMEF1:

    PRAME family member 1
    Hs.454859  [show with all ESTs]
    Unigene Representative Sequence: NM_023013
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332296(uc001auj.2) ENST00000400814

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    Additional cDNA sequence: 

    AK125568.1 AL049686.1 BC040902.1 BC144199.1 

    3 DOTS entries:

    DT.101975347  DT.97779824  DT.207193 

    4 AceView cDNA sequences:

    AL049686 NM_023013 BV183315 AK125568 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PRAMEF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAACTTAAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PRAMEF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRAMEF1

    SOURCE GeneReport for Unigene cluster: Hs.454859
        SABiosciences Custom PCR Arrays for PRAMEF1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRAMEF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
      --

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRAMEF1 gene
    PRAMEF131 2  PRAMEF21 2  PRAMEF192  PRAMEF102  PRAMEF32  PRAMEF202  LOC6453592  PRAMEF182  
    PRAMEF122  PRAMEF212  PRAMEF152  PRAMEF222  PRAMEF42  PRAMEF92  PRAME2  LRRC14B2  
    PRAMEF142  PRAMEF72  PRAMEF82  PRAMEF172  PRAMEF52  LRRC142  PRAMEF112  PRAMEF162  
    PRAMEF62  
    18/26 SIMAP similar genes for PRAMEF1 using alignment to 3 protein entries:     PRAM1_HUMAN (see all proteins) (see all similar genes):
    PRAMEF13    PRAMEF2    PRAMEF14    PRAMEF10    PRAMEF17    PRAMEF22
    PRAMEF3    PRAMEF16    PRAMEF18    PRAMEF19    PRAMEF12    PRAMEF25
    PRAMEF24    PRAMEF8    PRAMEF7    PRAMEF15    PRAMEF20    PRAMEF21

    PRAMEF1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for PRAMEF1
    PGOHUM00000243902 PGOHUM00000244603


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/410 NCBI SNPs in PRAMEF1 are shown (see all 410    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2019580871,2
    Cother12006702(+) AGACTC/GTGACG 2 L V mis11Minor allele frequency- G:0.00EU 1309
    rs93084561,2
    C,A,H--12003168(+) ATTAGC/TGACAG 1 -- us2k10--------
    rs115840081,2
    H--12003324(+) GTCTAA/CAGGAA 1 -- us2k1 trp30--------
    rs115844061,2
    H--12003334(+) AAGGTC/TTCCAG 1 -- us2k10--------
    rs29821791,2
    C--12003355(-) TGTCCA/GTCATT 1 -- us2k10--------
    rs593885671,2
    --12003436(+) TGGGAC/GAGCCA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs588993161,2
    --12003441(+) CAGCCA/TCCCTT 1 -- us2k10--------
    rs29821771,2
    C--12003488(-) TGTGAA/GCTGGA 1 -- us2k12Minor allele frequency- G:0.25NA 4
    rs568688891,2
    --12003691(+) GTGAGA/GTGGCT 1 -- us2k10--------
    rs115898991,2
    C,F,H,--12003714(+) CCCAGC/TATTTT 1 -- us2k15Minor allele frequency- T:0.01NS NA 584

    HapMap Linkage Disequilibrium report for PRAMEF1 (12851546 - 12856777 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 14 variations for PRAMEF1
         14 CNVs: 84050 2298 74333 53549 29829 6778 73028 74334 4403 73021 3283 38811 30369 53220

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    PRAMEF1 for disorders           About GeneDecksing

    1 disease for PRAMEF1:    About MalaCards
    melanoma


    Export disorders for PRAMEF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PRAMEF1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with PRAMEF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. Duplication and positive selection among hominin-specific PRAME genes. (PubMed id 16159394)1 Birtle Z....Ponting C. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 65121 HGNC: 28840 AceView: LOC65121 Ensembl:ENSG00000116721 euGenes: HUgn65121
    ECgene: PRAMEF1 H-InvDB: PRAMEF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PRAMEF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRAMEF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PRAMEF1 gene:
    Search GeneIP for patents involving PRAMEF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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