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IFRD1 interferon related developmental regulator 1 [ Homo sapiens (human) ]

Gene ID: 3475, updated on 5-Aug-2026
Official Symbol
IFRD1provided by HGNC
Official Full Name
interferon related developmental regulator 1provided by HGNC
Primary source
HGNC:HGNC:5456
See related
Ensembl:ENSG00000006652 MIM:603502; AllianceGenome:HGNC:5456
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PC4; TIS7
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 30.1), pancreas (RPKM 9.7) and 25 other tissues See more
Orthologs
all
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Try the new Transcripts and proteins table
See IFRD1 in Genome Data Viewer
Location:
7q31.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (112423174..112477203)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (113741458..113795506)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (112063229..112117258)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375456 Neighboring gene MT-ND6 pseudogene 24 Neighboring gene MT-CYB pseudogene 24 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:112032323-112032832 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112055185-112055686 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112055687-112056186 Neighboring gene uncharacterized LOC105375457 Neighboring gene Sharpr-MPRA regulatory region 10411 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112089605-112090422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112090423-112091240 Neighboring gene uncharacterized LOC128031837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26513 Neighboring gene leucine rich single-pass membrane protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:112136767-112136980 Neighboring gene nucleophosmin 1 pseudogene 14

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Brkanac Z, et al. Am J Hum Genet, 2009 May. PMID 19409521, Free PMC Article
  2. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia. Lin P, et al. J Hum Genet, 2018 Apr. PMID 29362493
  3. Increased IFRD1 Expression in Human Colon Cancers Predicts Reduced Patient Survival. Lewis MA, et al. Dig Dis Sci, 2017 Dec. PMID 29094309, Free PMC Article
  4. Isolated palatal tremor as unique clinical manifestation of SCA 18 due to a new mutation of IFRD1. Echeveste B, et al. Parkinsonism Relat Disord, 2017 Sep. PMID 28601596
  5. IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients. Baldan A, et al. Rhinology, 2015 Dec. PMID 26397160

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disrupting the interaction between a p53 gain-of-function mutant and the transcriptional co-activator PC4 reverses drug resistance in cancer cells.
    Title: Disrupting the interaction between a p53 gain-of-function mutant and the transcriptional co-activator PC4 reverses drug resistance in cancer cells.
  2. Insights on the disruption of the complex between human positive coactivator 4 and p53 by small molecules.
    Title: Insights on the disruption of the complex between human positive coactivator 4 and p53 by small molecules.
  3. IFRD1 regulates the asthmatic responses of airway via NF-kappaB pathway.
    Title: IFRD1 regulates the asthmatic responses of airway via NF-κB pathway.
  4. Results from a study on gene expression variability markers in early-stage human embryos shows that IFRD1 is a putative marker for the 3-day, 8-cell embryo stage.
    Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
  5. High IFRD1 colon cancer expression was significantly associated with decreased 5-year patient survival.
    Title: Increased IFRD1 Expression in Human Colon Cancers Predicts Reduced Patient Survival.
  6. this study shows that IFRD1 gene may be associated with pathogenesis of asthma
    Title: Uncovering potential key genes associated with the pathogenesis of asthma: A microarray analysis of asthma-relevant tissues.
  7. rs7817 polymorphism associated with nasal polyposis in cystic fibrosis patients
    Title: IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients.
  8. study reveals an EGFR-IFRD1-mediated viral immune evasion mechanism, which can also be exploited by cancer cells
    Title: The interferon-related developmental regulator 1 is used by human papillomavirus to suppress NFκB activation.
  9. rs5009270 may contribute to hip OA susceptibility by altering proximal femur shape.
    Title: Investigation of association between hip osteoarthritis susceptibility loci and radiographic proximal femur shape.
  10. PC4 plays essential roles in the transition step from transcription initiation to elongation by binding to melted DNA in collaboration with TFIIEbeta.
    Title: Transcription cofactor PC4 plays essential roles in collaboration with the small subunit of general transcription factor TFIIE.
Submit: New GeneRIF Correction See all GeneRIFs (30)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
EBI GWAS Catalog
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
EBI GWAS Catalog
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.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in myoblast fate determination TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
interferon-related developmental regulator 1
Names
12-O-tetradecanoylphorbol-13-acetate-induced sequence 7
TPA induced sequence 7
nerve growth factor-inducible protein PC4
pheochromocytoma cell-4

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027799.1 RefSeqGene

    Range
    32317..59060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007245.3 → NP_001007246.1  interferon-related developmental regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_001007246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC005192, AK313211, BF061555, BX648799
    Consensus CDS
    CCDS34736.1
    UniProtKB/Swiss-Prot
    B7Z5G1, O00458, O75234, Q5U013, Q9BVE4
    UniProtKB/TrEMBL
    A0A6Q8PHD2
    Related
    ENSP00000005558.4, ENST00000005558.9
    Conserved Domains (2) summary
    pfam04836
    Location:392 → 445
    IFRD_C; Interferon-related protein conserved region
    pfam05004
    Location:42 → 346
    IFRD; Interferon-related developmental regulator (IFRD)

  2. NM_001197079.2 → NP_001184008.1  interferon-related developmental regulator 1 isoform 2

    See identical proteins and their annotated locations for NP_001184008.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variant 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AC005192, AC079741, AK298894, BF061555, DC314572
    Consensus CDS
    CCDS56504.1
    UniProtKB/TrEMBL
    A0A6Q8PHD2
    Related
    ENSP00000439188.1, ENST00000535603.6
    Conserved Domains (2) summary
    pfam04836
    Location:342 → 395
    IFRD_C; Interferon-related protein conserved region
    pfam05004
    Location:1 → 296
    IFRD; Interferon-related developmental regulator (IFRD)

  3. NM_001197080.2 → NP_001184009.1  interferon-related developmental regulator 1 isoform 2

    See identical proteins and their annotated locations for NP_001184009.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variant 3 and 4 encode the same isoform (2).
    Source sequence(s)
    AC005192, AK315967, BF061555
    Consensus CDS
    CCDS56504.1
    UniProtKB/TrEMBL
    A0A6Q8PHD2
    Related
    ENSP00000483255.1, ENST00000621379.5
    Conserved Domains (2) summary
    pfam04836
    Location:342 → 395
    IFRD_C; Interferon-related protein conserved region
    pfam05004
    Location:1 → 296
    IFRD; Interferon-related developmental regulator (IFRD)

  4. NM_001550.4 → NP_001541.2  interferon-related developmental regulator 1 isoform 1

    See identical proteins and their annotated locations for NP_001541.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC005192, AC079741
    Consensus CDS
    CCDS34736.1
    UniProtKB/Swiss-Prot
    B7Z5G1, O00458, O75234, Q5U013, Q9BVE4
    UniProtKB/TrEMBL
    A0A6Q8PHD2
    Related
    ENSP00000384477.3, ENST00000403825.8
    Conserved Domains (2) summary
    pfam04836
    Location:392 → 445
    IFRD_C; Interferon-related protein conserved region
    pfam05004
    Location:42 → 346
    IFRD; Interferon-related developmental regulator (IFRD)

RNA

  1. NR_120333.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon in the 5' region and has an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC005192, AK297509, AK298894, BF061555, CN265021
    Related
    ENST00001049662.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    112423174..112477203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    113741458..113795506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O00458.4 GenPept UniProtKB/Swiss-Prot:O00458

Gene LinkOut

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