IFRD1
Interferon-related developmental regulator 1
Also known as: IFRD1_HUMAN, PC4, TIS7
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00458
- Gene
- IFRD1
- Ensembl
- ENSG00000006652
- Chromosome
- 7
- Canonical length
- 451 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Endoplasmic reticulum,Plasma membrane,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
451 residues, UniProt reviewed canonical sequence.
>O00458|IFRD1
1 MPKNKKRNTP HRGSSAGGGG SGAAAATAAT AGGQHRNVQP FSDEDASIET MSHCSGYSDP
61 SSFAEDGPEV LDEEGTQEDL EYKLKGLIDL TLDKSAKTRQ AALEGIKNAL ASKMLYEFIL
121 ERRMTLTDSI ERCLKKGKSD EQRAAAALAS VLCIQLGPGI ESEEILKTLG PILKKIICDG
181 SASMQARQTC ATCFGVCCFI ATDDITELYS TLECLENIFT KSYLKEKDTT VICSTPNTVL
241 HISSLLAWTL LLTICPINEV KKKLEMHFHK LPSLLSCDDV NMRIAAGESL ALLFELARGI
301 ESDFFYEDME SLTQMLRALA TDGNKHRAKV DKRKQRSVFR DVLRAVEERD FPTETIKFGP
361 ERMYIDCWVK KHTYDTFKEV LGSGMQYHLQ SNEFLRNVFE LGPPVMLDAA TLKTMKISRF
421 ERHLYNSAAF KARTKARSKC RDKRADVGEF FLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFRD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 54 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 54 nTPM
- pancreas: 48 nTPM
- choroid plexus: 27 nTPM
- blood vessel: 18 nTPM
- skeletal muscle: 18 nTPM
- stomach: 16 nTPM
Single-cell type
- early spermatids: 109 nCPM
- choroid plexus epithelial cells: 100 nCPM
- microglia: 83 nCPM
- astrocytes: 82 nCPM
- renal connecting tubule cells: 77 nCPM
- loop of henle epithelial cells: 73 nCPM
Immune cell
- neutrophil: 113 nTPM
- eosinophil: 64 nTPM
- basophil: 20 nTPM
- memory B-cell: 8.8 nTPM
- T-reg: 8.6 nTPM
- NK-cell: 8.1 nTPM
Brain region
- choroid plexus: 76 nTPM
- hypothalamus: 49 nTPM
- white matter: 48 nTPM
- cerebral cortex: 42 nTPM
- basal ganglia: 38 nTPM
- hippocampal formation: 38 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.67
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.26
- DepMap mean gene effect
- 0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adipose tissue development
- fat cell differentiation
- muscle cell differentiation
- myoblast fate determination
- negative regulation of axon extension
- negative regulation of collateral sprouting
- regulation of transcription by RNA polymerase II
- skeletal muscle tissue regeneration
- striated muscle tissue development
- Wnt signaling pathway
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IFRD1 as an antibody target. Whether an autoantibody or antibody against IFRD1 could matter depends on whether native IFRD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFRD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label IFRD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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