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IFRD1 Gene

protein-coding   GIFtS: 62
GCID: GC07P112063

Interferon-Related Developmental Regulator 1

  See IFRD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interferon-Related Developmental Regulator 11 2     TIS72
Nerve Growth Factor-Inducible Protein PC42 3     Pheochromocytoma Cell-42
12-O-Tetradecanoylphorbol-13-Acetate-Induced Sequence 72     TPA Induced Sequence 72
PC42     

External Ids:    HGNC: 54561   Entrez Gene: 34752   Ensembl: ENSG000000066527   OMIM: 6035025   UniProtKB: O004583   

Export aliases for IFRD1 gene to outside databases

Previous GC identifers: GC07P110574 GC07P111609 GC07P111651 GC07P111684 GC07P111850 GC07P106430


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IFRD1 Gene:
This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function
as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types
during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor
neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung
disease. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Oct 2010)

GeneCards Summary for IFRD1 Gene:
IFRD1 (interferon-related developmental regulator 1) is a protein-coding gene. Diseases associated with IFRD1 include spinocerebellar ataxia 18, and skeletal muscle regeneration. An important paralog of this gene is IFRD2.

UniProtKB/Swiss-Prot: IFRD1_HUMAN, O00458
Function: Could play a role in regulating gene activity in the proliferative and/or differentiative pathways
induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By
similarity)

Gene Wiki entry for IFRD1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFRD1 gene promoter:
         Sp1   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): IFRD1 promoter sequence
   Search Chromatin IP Primers for IFRD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFRD1


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

Entrez Gene cytogenetic band: 7q31.1   Ensembl cytogenetic band:  7q31.1   HGNC cytogenetic band: 7q31.1

IFRD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFRD1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P112063:  view genomic region     (about GC identifiers)

Start:
112,063,023 bp from pter      End:
112,121,072 bp from pter
Size:
58,050 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 111,431,426-111,485,763     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: IFRD1_HUMAN, O00458 (See protein sequence)
Recommended Name: Interferon-related developmental regulator 1  
Size: 451 amino acids; 50269 Da
Subunit: Interacts with PSIP1/LEDGF
Secondary accessions: B7Z5G1 O75234 Q5U013 Q9BVE4
Alternative splicing: 2 isoforms:  O00458-1   O00458-2   

Explore the universe of human proteins at neXtProt for IFRD1: NX_O00458

Explore proteomics data for IFRD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys174, Lys175
  • Modification sites at PhosphoSitePlus

  • See IFRD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001007246.1  NP_001184008.1  NP_001184009.1  NP_001541.2  

    ENSEMBL proteins: 
     ENSP00000391379   ENSP00000005558   ENSP00000397592   ENSP00000402453   ENSP00000413893  
     ENSP00000384477   ENSP00000397314   ENSP00000437250   ENSP00000402177   ENSP00000403203  
     ENSP00000435635   ENSP00000439188  

    IFRD1 Human Recombinant Protein Products:

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    OriGene Purified Protein for IFRD1
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    GenScript Custom Purified and Recombinant Proteins Services for IFRD1
    Novus Biologicals IFRD1 Protein
    Novus Biologicals IFRD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IFRD1

     
    Search eBioscience for Proteins for IFRD1 

     
    antibodies-online proteins for IFRD1 (4 products) 

     
    antibodies-online peptides for IFRD1

    IFRD1 Antibody Products:

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    Abcam antibodies for IFRD1
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    antibodies-online antibodies for IFRD1 (22 products) 

    IFRD1 Assay Products:

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    Cloud-Clone Corp. CLIAs for IFRD1
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    antibodies-online kits for IFRD1 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR007701 Interferon-rel_develop_reg_N
     IPR006921 Interferon-rel_develop_reg_C
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry O00458

    ProtoNet protein and cluster: O00458

    1 Blocks protein domain: IPB006921 Interferon-related protein conserved region

    UniProtKB/Swiss-Prot: IFRD1_HUMAN, O00458
    Similarity: Belongs to the IFRD family


    Find genes that share domains with IFRD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IFRD1_HUMAN, O00458
    Function: Could play a role in regulating gene activity in the proliferative and/or differentiative pathways
    induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By
    similarity)

         Genatlas biochemistry entry for IFRD1:
    interferon-related developmental regulator 1,rat PC4 homolog,expressed in differentiating tissues such as nervous
    tissue,kidney,lung,embryonic and adult skeletal muscle

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
         
    Find genes that share ontologies with IFRD1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for IFRD1:
     Increased cell number in G1, a 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ifrd1):
     growth/size/body  muscle 

    Find genes that share phenotypes with IFRD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ifrd1tm1Lah for IFRD1

       genOway: Develop your customized and physiologically relevant rodent model for IFRD1

    miRNA
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    miRTarBase miRNAs that target IFRD1:
    hsa-mir-26b-5p (MIRT029297), hsa-mir-30a-5p (MIRT005143), hsa-mir-192-5p (MIRT026426), hsa-let-7b-5p (MIRT001623), hsa-mir-16-5p (MIRT001454)

    Block miRNA regulation of human, mouse, rat IFRD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IFRD1 (see all 20):
    hsa-miR-3128 hsa-miR-323-3p hsa-miR-607 hsa-miR-16-1* hsa-miR-216b hsa-miR-890 hsa-miR-548a-3p hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidIFRD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IFRD1
    Predesigned siRNA for gene silencing in human, mouse, rat IFRD1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for IFRD1

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    OriGene clones in human, mouse for IFRD1 (see all 15)
    OriGene ORF clones in mouse, rat for IFRD1
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    GenScript: all cDNA clones in your preferred vector (see all 4): IFRD1 (NM_001550)
    Sino Biological Human cDNA Clone for IFRD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFRD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFRD1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFRD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with IFRD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for IFRD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophy Model
    Hypertrophy Model


    1 BioSystems Pathway for IFRD1
        Hypertrophy Model



        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFRD1: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Interferons & Receptors in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IFRD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IFRD1 (O004582, 3 ENSP000000055584) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HDAC4P565243, ENSP000002646064I2D: score=2 STRING: ENSP00000264606
    ECHS1P300843, ENSP000003575354I2D: score=1 STRING: ENSP00000357535
    MYOD1P151723, ENSP000002500034I2D: score=1 STRING: ENSP00000250003
    SAP30O754463, ENSP000002965044I2D: score=1 STRING: ENSP00000296504
    SIN3BO751823, ENSP000003691314I2D: score=1 STRING: ENSP00000369131
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0007518myoblast fate determination TAS7756174
    GO:0007527adult somatic muscle development IEA--
    GO:0042692muscle cell differentiation ----

    Find genes that share ontologies with IFRD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFRD1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for IFRD1 gene (4 alternative transcripts): 
    NM_001007245.2  NM_001197079.1  NM_001197080.1  NM_001550.3  

    Unigene Cluster for IFRD1:

    Interferon-related developmental regulator 1
    Hs.7879  [show with all ESTs]
    Unigene Representative Sequence: NM_001007245
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432734 ENST00000005558 ENST00000443101 ENST00000445335 ENST00000417662
    ENST00000403825(uc003vgh.3 uc011kmn.2 uc003vgj.3 uc011kmo.2 uc011kmp.2)
    ENST00000429071(uc003vgi.3) ENST00000476927 ENST00000440625 ENST00000466459
    ENST00000486688 ENST00000421296 ENST00000489994(uc003vgk.3) ENST00000470441
    ENST00000462155 ENST00000535603
    miRNA
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    Block miRNA regulation of human, mouse, rat IFRD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IFRD1 (see all 20):
    hsa-miR-3128 hsa-miR-323-3p hsa-miR-607 hsa-miR-16-1* hsa-miR-216b hsa-miR-890 hsa-miR-548a-3p hsa-miR-548g
    SwitchGear 3'UTR luciferase reporter plasmidIFRD1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for IFRD1
    Predesigned siRNA for gene silencing in human, mouse, rat IFRD1
    Clone
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    OriGene clones in human, mouse for IFRD1 (see all 15)
    OriGene ORF clones in mouse, rat for IFRD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): IFRD1 (NM_001550)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFRD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFRD1
    Primer
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    OriGene qPCR primer pairs and template standards for IFRD1
    OriGene qSTAR qPCR primer pairs in human, mouse for IFRD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFRD1
      QuantiTect SYBR Green Assays in human, mouse, rat IFRD1
      QuantiFast Probe-based Assays in human, mouse, rat IFRD1

    Additional mRNA sequence: 

    AK298894.1 AK308066.1 AK313211.1 AK315967.1 BC001272.1 BT019889.1 BT019890.1 BX648799.1 

    18 DOTS entries:

    DT.92439384  DT.317950  DT.99996008  DT.91839142  DT.100736122  DT.302968  DT.40268349  DT.92000883 
    DT.100028556  DT.100656628  DT.95371579  DT.121115877  DT.100724749  DT.100786607  DT.102823386  DT.121115952 
    DT.101957293  DT.121115933 

    Selected AceView cDNA sequences (see all 296):

    BQ720292 BM825719 BM453688 AL532457 AI149128 BC001272 AW009341 D20227 
    CR614885 AA858246 AI560613 AV654790 BG181092 BM468649 CR602983 AI129408 
    W87947 AI368750 CK429428 BM794180 BX644232 AA725398 BM799738 T32650 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IFRD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAATTAGC
    IFRD1 Expression
    About this image


    IFRD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Bone Marrow
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Pancreas (Endocrine System)
     
     Adrenal Gland (Endocrine System)
    IFRD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFRD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7879

    UniProtKB/Swiss-Prot: IFRD1_HUMAN, O00458
    Tissue specificity: Expressed in a variety of tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFRD1: 
              TGFB/BMP Signaling Pathway in human mouse rat
              Interferons & Receptors in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat IFRD1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFRD1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IFRD1 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ifrd11 , 5 interferon-related developmental regulator 11, 5 90.05(n)1
    92.65(a)1
      12 (18.06 cM)5
    159821  NM_013562.21  NP_038590.21 
     402015675 
    chicken
    (Gallus gallus)
    Aves IFRD11 interferon-related developmental regulator 1 77.65(n)
    83.18(a)
      395226  NM_001001468.1  NP_001001468.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFRD16
    interferon-related developmental regulator 1
    83(a)
    1 ↔ 1
    5(58489558-58502192)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC691232 hypothetical protein MGC69123 74.12(n)    BC057749.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj67a062 Transcribed sequence with weak similarity to protein more 72.12(n)    CK239527.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG316941 CG31694 44.75(n)
    38(a)
      33489  NM_164511.2  NP_722858.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F58B3.61 F58B3.6 44.12(n)
    30.75(a)
      178090  NM_069796.4  NP_502197.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SAT321 SAT32 42.78(n)
    28.9(a)
      839669  NM_102541.3  NP_564294.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05880001 Os07g0588000 42.57(n)
    29.74(a)
      4343759  NM_001066674.1  NP_001060139.1 


    ENSEMBL Gene Tree for IFRD1 (if available)
    TreeFam Gene Tree for IFRD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IFRD1 gene
    IFRD22  
    1 SIMAP similar gene for IFRD1 using alignment to 14 protein entries:     IFRD1_HUMAN (see all proteins):
    IFRD2

    Find genes that share paralogs with IFRD1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IFRD1 (see all 1238)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354325061,2
    C--106441783(+) TTGTA-/TTTTTT 2 -- int11Minor allele frequency- T:0.00CSA 2
    rs1507004561,2
    C--111432701(+) CTTTC-/TTTTTT 2 -- int10--------
    rs1999236211,2
    --111432701(+) TTTCT-/ATTTTT 2 -- int10--------
    rs106090291,2
    C--111463201(+) ttttt-/T/    
       TTTTT
    gagac
    4 -- int11NA 2
    rs586940281,2
    C--111466640(+) GTCTC-/AAAAAA 4 -- int10--------
    rs113046021,2
    C--111466655(+) AAAAAT/-AAATA 4 -- int11Minor allele frequency- -:0.00NA 2
    rs1383292291,2
    C--111467828(+) ATAAC-/ATGTGAT 4 -- int10--------
    rs721216441,2
    C--111472404(+) ATACA-/ATTATAT 4 -- int10--------
    rs1483261581,2
    --111472441(+) ACACA-/CACACA
    CACACACAC
    CCCAC
    4 -- int10--------
    rs106054821,2
    C--111474134(+) TAACT-/TAATGGAT 4 -- int10--------

    HapMap Linkage Disequilibrium report for IFRD1 (112063023 - 112121072 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IFRD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422365CNV Duplication17116639
    nsv831097CNV Gain17160897
    nsv464689CNV Gain19166990

    Human Gene Mutation Database (HGMD): IFRD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IFRD1
    DNA2.0 Custom Variant and Variant Library Synthesis for IFRD1

    (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

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    OMIM gene information: 603502    OMIM disorders: --

    4 diseases for IFRD1:    
    About MalaCards
    spinocerebellar ataxia 18    skeletal muscle regeneration    pheochromocytoma    cystic fibrosis


    Find genes that share disorders with IFRD1           About GenesLikeMe

    Genetic Association Database (GAD): IFRD1
    Human Genome Epidemiology (HuGE) Navigator: IFRD1 (2 documents)

    Export disorders for IFRD1 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)
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    PubMed articles for IFRD1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with IFRD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes. (PubMed id 9722946)1, 2, 3, 9 Buanne P....Tirone F. (Genomics 1998)
    2. Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. (PubMed id 20400778)1, 4 Morrison A.C....Smith N.L. (Circ Cardiovasc Genet 2010)
    3. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. (PubMed id 19242412)1, 4 Gu Y....Karp C.L. (Nature 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. Isolation of cDNAs encoding novel transcription coactivators p52 and p75 reveals an alternate regulatory mechanism of transcriptional activation. (PubMed id 9822615)1, 2 Ge H.... Roeder R.G. (EMBO J. 1998)
    7. PC4 coactivates MyoD by relieving the histone deacetylase 4-mediated inhibition of myocyte enhancer factor 2C. (PubMed id 15743821)1, 9 Micheli L....Tirone F. (Mol. Cell. Biol. 2005)
    8. Nerve growth factor regulates the subcellular localization of the nerve growth factor-inducible protein PC4 in PC12 cells. (PubMed id 8028043)1, 9 Guardavaccaro D....Tirone F. (J. Neurosci. Res. 1994)
    9. Inhibition of differentiation in myoblasts deprived of the interferon-related protein PC4. (PubMed id 7756174)1, 9 Guardavaccaro D....Tirone F. (amp 1995)
    10. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. (PubMed id 19409521)1, 9 Brkanac Z....Raskind W.H. (Am. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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

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    Entrez Gene: 3475 HGNC: 5456 AceView: IFRD1 Ensembl:ENSG00000006652 euGenes: HUgn3475
    ECgene: IFRD1 H-InvDB: IFRD1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for IFRD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for IFRD1 gene:
    Search GeneIP for patents involving IFRD1

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



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