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

    Gene ID: 3475, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See IFRD1 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (112423174..112477203)
    RS_2024_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

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Expression and regulation of interferon-related development regulator-1 in cystic fibrosis neutrophils. Hector A, et al. Am J Respir Cell Mol Biol, 2013 Jan. PMID 23043087
    2. IFRD1 polymorphisms and gastric cancer risk in a Chinese population. Xu R, et al. Med Oncol, 2014 Sep. PMID 25073439
    3. The interferon-related developmental regulator 1 is used by human papillomavirus to suppress NFκB activation. Tummers B, et al. Nat Commun, 2015 Mar 13. PMID 26055519, Free PMC Article
    4. IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients. Baldan A, et al. Rhinology, 2015 Dec. PMID 26397160
    5. Stress-sensitive regulation of IFRD1 mRNA decay is mediated by an upstream open reading frame. Zhao C, et al. J Biol Chem, 2010 Mar 19. PMID 20080976, Free PMC Article

    See all (73) 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)

    Phenotypes

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    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myoblast fate determination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of collateral sprouting IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle tissue regeneration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in striated muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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

    NCBI Reference Sequences (RefSeq)

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    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, A4D0U1
      Related
      ENSP00000005558.4, ENST00000005558.8
      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)

    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, ENST00000535603.5
      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)

    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, ENST00000621379.4
      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, A4D0U1
      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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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