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... See more...

Aliases for IFRD1 Gene

Aliases for IFRD1 Gene

  • Interferon Related Developmental Regulator 1 2 3 5
  • Interferon-Related Developmental Regulator 1 2 3 4
  • 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 Lung Disease. Among its related pathways are Hypertrophy Model. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is IFRD2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for IFRD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IFRD1 Gene

Genomics for IFRD1 Gene

GeneHancer (GH) Regulatory Elements for IFRD1 Gene

Promoters and enhancers for IFRD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J112448 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 517.6 +28.5 28454 6.4 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 MYC USF1 IFRD1 NONHSAG048570.2 lnc-DOCK4-4 LSMEM1 TMEM168 GPR85 IMMP2L piR-43107-279
GH07J112420 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 519.1 -0.4 -368 5.6 HNRNPK ZNF217 ZSCAN5C TCF12 POLR2G NCOR1 JUND TEAD4 ZFX ZIC2 IFRD1 DOCK4 LSMEM1 SMIM30 ZNF277 HSALNG0060597 ENSG00000226851 LOC105375457
GH07J112112 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 33.1 -308.7 -308667 7.8 NR2F2 JUND MAFK RAD21 RXRA ATF2 REST ZNF366 YY1 FOS IFRD1 DOCK4 ZNF277 piR-61028-538 RF00017-6566
GH07J112480 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 22.8 +60.3 60332 6.2 HNRNPK ZNF217 CTCF ZSCAN5C TCF12 USF1 JUND FOS ZNF639 ZNF10 LSMEM1 IFRD1 HSALNG0060600 NPM1P14
GH07J112103 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 17.3 -317.0 -316968 7.2 MCM3 OSR2 FOXA2 MCM5 PRDM6 ZNF660 BCL6B PRDM10 ZSCAN21 SP7 DOCK4 IFRD1 TMEM168 ZNF277 piR-61028-538 RF00017-6566
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IFRD1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IFRD1

Top Transcription factor binding sites by QIAGEN in the IFRD1 gene promoter:
  • MyoD
  • Sp1

Genomic Locations for IFRD1 Gene

Genomic Locations for IFRD1 Gene
chr7:112,422,968-112,481,017
(GRCh38/hg38)
Size:
58,050 bases
Orientation:
Plus strand
chr7:112,063,023-112,121,072
(GRCh37/hg19)
Size:
58,050 bases
Orientation:
Plus strand

Genomic View for IFRD1 Gene

Genes around IFRD1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for IFRD1 Gene

  • Ubiquitination at Lys174 and Lys175
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for IFRD1
  • Boster Bio Antibodies for IFRD1

No data available for DME Specific Peptides for IFRD1 Gene

Domains & Families for IFRD1 Gene

Gene Families for IFRD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IFRD1 Gene

Blocks:
  • Interferon-related protein conserved region
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IFRD1 Gene

GenScript: Design optimal peptide antigens:
  • Interferon-related developmental regulator 1, isoform CRA_a (A4D0U1_HUMAN)
  • cDNA FLJ54027, highly similar to Interferon-related developmental regulator 1 (B7Z4L0_HUMAN)
  • cDNA, FLJ78866, highly similar to Interferon-related developmental regulator 1 (B7Z5G1_HUMAN)
  • Nerve growth factor-inducible protein PC4 (IFRD1_HUMAN)

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

Function for IFRD1 Gene

Molecular function for IFRD1 Gene

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).
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

Phenotypes From GWAS Catalog for IFRD1 Gene

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

Human Phenotype Ontology for IFRD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFRD1 Gene

MGI Knock Outs for IFRD1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFRD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for IFRD1 Gene

Localization for IFRD1 Gene

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 IFRD1 gene
Compartment Confidence
nucleus 4
cytosol 3
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IFRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
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

PathCards logo

SuperPathways for IFRD1 Gene

SuperPathway 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

Gene Ontology (GO) - Biological Process for IFRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007518 myoblast fate determination TAS 7756174
GO:0014706 striated muscle tissue development IEA --
GO:0030154 cell differentiation IEA --
GO:0030517 negative regulation of axon extension 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

mRNA/cDNA for IFRD1 Gene

4 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IFRD1

Clone 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

Expression for IFRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for IFRD1 Gene



Protein tissue co-expression partners for IFRD1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IFRD1

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.

Evidence on tissue expression from TISSUES for IFRD1 Gene

  • Nervous system(4.7)
  • Adrenal gland(2.2)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFRD1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Limb:
  • foot
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with IFRD1: view

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
chimpanzee
(Pan troglodytes)
Mammalia IFRD1 31 30
  • 99.56 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IFRD1 31
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 82 (a)
OneToMany
cow
(Bos Taurus)
Mammalia IFRD1 31 30
  • 91.33 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IFRD1 31 30
  • 90.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ifrd1 17 31 30
  • 90.05 (n)
rat
(Rattus norvegicus)
Mammalia Ifrd1 30
  • 89.09 (n)
chicken
(Gallus gallus)
Aves IFRD1 31 30
  • 77.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFRD1 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ifrd1 30
  • 71.27 (n)
Str.17660 30
African clawed frog
(Xenopus laevis)
Amphibia MGC69123 30
zebrafish
(Danio rerio)
Actinopterygii ifrd1 31 30
  • 64.9 (n)
OneToOne
wufj67a06 30
fruit fly
(Drosophila melanogaster)
Insecta CG31694 31 30
  • 44.75 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001032 30
  • 43.28 (n)
worm
(Caenorhabditis elegans)
Secernentea F58B3.6 31 30
  • 44.12 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SAT32 30
  • 42.78 (n)
rice
(Oryza sativa)
Liliopsida Os07g0588000 30
  • 42.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6747 31
  • 41 (a)
OneToMany
Species where no ortholog for IFRD1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IFRD1: view image

Paralogs for IFRD1 Gene

Paralogs for IFRD1 Gene

(1) SIMAP similar genes for IFRD1 Gene using alignment to 14 proteins:

  • IFRD1_HUMAN
  • A4D0U1_HUMAN
  • C9J311_HUMAN
  • C9J7U6_HUMAN
  • C9JA65_HUMAN
  • C9JFH1_HUMAN
  • C9JK78_HUMAN
  • C9JLG5_HUMAN
  • C9JNM6_HUMAN
  • E9PMY4_HUMAN
  • H0YEE3_HUMAN
  • Q75M98_HUMAN
  • Q75M99_HUMAN
  • Q75MS4_HUMAN
genes like me logo Genes that share paralogs with IFRD1: view

Variants for IFRD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IFRD1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
637690 Uncertain Significance: Charcot-Marie-Tooth disease 112,458,965(+) A/G MISSENSE_VARIANT
713158 Benign: not provided 112,461,996(+) A/G INTRON_VARIANT
774131 Benign: not provided 112,450,727(+) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
774132 Benign: not provided 112,472,825(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
774663 Benign: not provided 112,456,015(+) T/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IFRD1 Gene

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

Variant ID Type Subtype PubMed ID
esv2422365 CNV duplication 17116639
esv3891194 CNV gain 25118596
nsv1030033 CNV loss 25217958
nsv1124258 CNV deletion 24896259
nsv1137282 CNV deletion 24896259
nsv464689 CNV gain 19166990
nsv474220 CNV novel sequence insertion 20440878
nsv608200 CNV gain 21841781
nsv608226 CNV gain 21841781
nsv831097 CNV gain 17160897

Variation tolerance for IFRD1 Gene

Residual Variation Intolerance Score: 21.8% 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)

Additional Variant Information for IFRD1 Gene

Human Gene Mutation Database (HGMD)
IFRD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFRD1

SNP Genotyping and Copy Number Assay Products

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

Disorders for IFRD1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for IFRD1 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 18
  • sca18
lung disease
  • lung diseases
cystic fibrosis
  • cf
charcot-marie-tooth disease
  • peroneal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search IFRD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IFRD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 3 4 23 54
  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. (PMID: 20400778) Morrison AC … Smith NL (Circulation. Cardiovascular genetics 2010) 3 41 54
  3. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. (PMID: 19409521) Brkanac Z … Raskind WH (American journal of human genetics 2009) 3 23 54
  4. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. (PMID: 19242412) Gu Y … Karp CL (Nature 2009) 3 41 54
  5. PC4 coactivates MyoD by relieving the histone deacetylase 4-mediated inhibition of myocyte enhancer factor 2C. (PMID: 15743821) Micheli L … Tirone F (Molecular and cellular biology 2005) 3 23 54

Products for IFRD1 Gene

Sources for IFRD1 Gene