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Aliases for IFRD1 Gene

Aliases for IFRD1 Gene

  • Interferon-Related Developmental Regulator 1 2 3
  • Nerve Growth Factor-Inducible Protein PC4 3 4
  • 12-O-Tetradecanoylphorbol-13-Acetate-Induced Sequence 7 3
  • Pheochromocytoma Cell-4 3
  • TPA Induced Sequence 7 3
  • TIS7 3
  • PC4 3

External Ids for IFRD1 Gene

Previous GeneCards Identifiers for IFRD1 Gene

  • GC07P110574
  • GC07P111609
  • GC07P111651
  • GC07P111684
  • GC07P111850
  • GC07P112063
  • GC07P106430

Summaries for IFRD1 Gene

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 pachyonychia congenita 4. Among its related pathways are Hypertrophy Model. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for IFRD1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFRD1 Gene

Genomics for IFRD1 Gene

Regulatory Elements for IFRD1 Gene

Transcription factor binding sites by QIAGEN in the IFRD1 gene promoter:

Genomic Location for IFRD1 Gene

Chromosome:
7
Start:
112,422,968 bp from pter
End:
112,481,017 bp from pter
Size:
58,050 bases
Orientation:
Plus strand

Genomic View for IFRD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IFRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFRD1 Gene

Proteins for IFRD1 Gene

  • Protein details for IFRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00458-IFRD1_HUMAN
    Recommended name:
    Interferon-related developmental regulator 1
    Protein Accession:
    O00458
    Secondary Accessions:
    • B7Z5G1
    • O75234
    • Q5U013
    • Q9BVE4

    Protein attributes for IFRD1 Gene

    Size:
    451 amino acids
    Molecular mass:
    50269 Da
    Quaternary structure:
    • Interacts with PSIP1/LEDGF.

    Alternative splice isoforms for IFRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFRD1 Gene

Proteomics data for IFRD1 Gene at MOPED

Post-translational modifications for IFRD1 Gene

  • Ubiquitination at Lys 174
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for IFRD1 Gene

Domains & Families for IFRD1 Gene

Graphical View of Domain Structure for InterPro Entry

O00458

UniProtKB/Swiss-Prot:

IFRD1_HUMAN :
  • Belongs to the IFRD family.
Family:
  • Belongs to the IFRD family.
genes like me logo Genes that share domains with IFRD1: view

No data available for Gene Families for IFRD1 Gene

Function for IFRD1 Gene

Molecular function for IFRD1 Gene

GENATLAS Biochemistry:
interferon-related developmental regulator 1,rat PC4 homolog,expressed in differentiating tissues such as nervous tissue,kidney,lung,embryonic and adult skeletal muscle
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for IFRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
genes like me logo Genes that share ontologies with IFRD1: view

Phenotypes for IFRD1 Gene

genes like me logo Genes that share phenotypes with IFRD1: view

Animal Models for IFRD1 Gene

MGI Knock Outs for IFRD1:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFRD1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IFRD1 Gene

Localization for IFRD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFRD1 Gene COMPARTMENTS Subcellular localization image for IFRD1 gene
Compartment Confidence
cytosol 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for IFRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with IFRD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for IFRD1 Gene

Pathways & Interactions for IFRD1 Gene

SuperPathways for IFRD1 Gene

Superpath Contained pathways
1 Hypertrophy Model
genes like me logo Genes that share pathways with IFRD1: view

Pathways by source for IFRD1 Gene

1 BioSystems pathway for IFRD1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Interferons & Receptors in human,mouse,rat
    • Signal Transduction PathwayFinder in human,mouse,rat

Gene Ontology (GO) - Biological Process for IFRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007518 myoblast fate determination TAS 7756174
GO:0014706 striated muscle tissue development IEA --
GO:0030517 negative regulation of axon extension IEA --
GO:0042692 muscle cell differentiation --
GO:0043403 skeletal muscle tissue regeneration IEA --
genes like me logo Genes that share ontologies with IFRD1: view

No data available for SIGNOR curated interactions for IFRD1 Gene

Drugs & Compounds for IFRD1 Gene

No Compound Related Data Available

Transcripts for IFRD1 Gene

Unigene Clusters for IFRD1 Gene

Interferon-related developmental regulator 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IFRD1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IFRD1 Gene

No ASD Table

Relevant External Links for IFRD1 Gene

GeneLoc Exon Structure for
IFRD1
ECgene alternative splicing isoforms for
IFRD1

Expression for IFRD1 Gene

mRNA expression in normal human tissues for IFRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IFRD1 Gene

This gene is overexpressed in Lung (36.0) and Breast (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFRD1 Gene



SOURCE GeneReport for Unigene cluster for IFRD1 Gene Hs.7879

mRNA Expression by UniProt/SwissProt for IFRD1 Gene

O00458-IFRD1_HUMAN
Tissue specificity: Expressed in a variety of tissues
genes like me logo Genes that share expression patterns with IFRD1: view

Protein tissue co-expression partners for IFRD1 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for IFRD1 Gene

Orthologs for IFRD1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IFRD1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia IFRD1 35
  • 91.33 (n)
  • 93.78 (a)
IFRD1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFRD1 35
  • 90.96 (n)
  • 93.56 (a)
IFRD1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ifrd1 35
  • 90.05 (n)
  • 92.65 (a)
Ifrd1 16
Ifrd1 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia IFRD1 35
  • 99.56 (n)
  • 99.56 (a)
IFRD1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ifrd1 35
  • 89.09 (n)
  • 91.98 (a)
oppossum
(Monodelphis domestica)
Mammalia IFRD1 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
chicken
(Gallus gallus)
Aves IFRD1 35
  • 77.65 (n)
  • 83.18 (a)
IFRD1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFRD1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifrd1 35
  • 71.27 (n)
  • 70.46 (a)
Str.17660 35
African clawed frog
(Xenopus laevis)
Amphibia MGC69123 35
zebrafish
(Danio rerio)
Actinopterygii ifrd1 35
  • 64.9 (n)
  • 63.86 (a)
wufj67a06 35
ifrd1 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001032 35
  • 43.28 (n)
  • 35.82 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31694 35
  • 44.75 (n)
  • 38 (a)
CG31694 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F58B3.6 35
  • 44.12 (n)
  • 30.75 (a)
F58B3.6 36
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SAT32 35
  • 42.78 (n)
  • 28.9 (a)
rice
(Oryza sativa)
Liliopsida Os07g0588000 35
  • 42.57 (n)
  • 29.74 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6747 36
  • 41 (a)
OneToMany
Species with no ortholog for IFRD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFRD1 Gene

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

Paralogs for IFRD1 Gene

genes like me logo Genes that share paralogs with IFRD1: view

No data available for Paralogs for IFRD1 Gene

Variants for IFRD1 Gene

Sequence variations from dbSNP and Humsavar for IFRD1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs7467 -- 112,476,143(-) AGTCT(C/T)ATACA utr-variant-3-prime, nc-transcript-variant
rs7817 -- 112,475,603(+) TTATC(C/T)TGGAT utr-variant-3-prime, nc-transcript-variant
rs1005659 -- 112,471,361(+) TCTTT(C/T)CTATT intron-variant
rs1005660 -- 112,471,703(+) GTTAC(C/T)TCTTA intron-variant
rs1005661 -- 112,471,786(+) GTTAA(A/C)CCTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IFRD1 Gene

Variant ID Type Subtype PubMed ID
esv2422365 CNV Duplication 17116639
nsv464689 CNV Gain 19166990
nsv831097 CNV Gain 17160897

Variation tolerance for IFRD1 Gene

Residual Variation Intolerance Score: 21.85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.10; 22.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFRD1 Gene

HapMap Linkage Disequilibrium report
IFRD1
Human Gene Mutation Database (HGMD)
IFRD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFRD1 Gene

Disorders for IFRD1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IFRD1 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 18
  • sca18
pachyonychia congenita 4
  • pc4
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association
Search IFRD1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for IFRD1

Genetic Association Database (GAD)
IFRD1
Human Genome Epidemiology (HuGE) Navigator
IFRD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFRD1
genes like me logo Genes that share disorders with IFRD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IFRD1 Gene

Publications for IFRD1 Gene

  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. (PMID: 9722946) Buanne P. … Tirone F. (Genomics 1998) 2 23 67
  2. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. (PMID: 19409521) Brkanac Z. … Raskind W.H. (Am. J. Hum. Genet. 2009) 23 67
  3. Refractory thrombocytopenia, an unusual myelodysplastic syndrome with an initial presentation mimicking idiopathic thrombocytopenic purpura. (PMID: 15765783) Qian J. … Chen Z. (Int. J. Hematol. 2005) 23 67
  4. PC4 coactivates MyoD by relieving the histone deacetylase 4-mediated inhibition of myocyte enhancer factor 2C. (PMID: 15743821) Micheli L. … Tirone F. (Mol. Cell. Biol. 2005) 23 67
  5. The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. (PMID: 9050919) Latif F. … Lerman M.I. (Hum. Genet. 1997) 23 67

Products for IFRD1 Gene

Sources for IFRD1 Gene

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