IFRD1 - interferon related developmental regulator 1 Gene

Also Known as PC4; TIS7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3475

About IFRD1

Cytogenetic location: 7q31.1 Genomic coordinates (GRCh38): 7:112,423,174-112,477,203 (from NCBI)

This gene has 22 transcripts (splice variants), 216 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 30.1), pancreas (RPKM 9.7) and 25 other tissues.

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]

IFRD1 Products (4)

mRNA Protein Name
NM_001007245.3 NP_001007246.1 interferon-related developmental regulator 1 isoform 1
NM_001197079.2 NP_001184008.1 interferon-related developmental regulator 1 isoform 2
NM_001197080.2 NP_001184009.1 interferon-related developmental regulator 1 isoform 2
NM_001550.4 NP_001541.2 interferon-related developmental regulator 1 isoform 1

IFRD1 Protein Structure

IFRD

IFRD: Interferon-related developmental regulator (IFRD) (42 - 347)

IFRD_C

IFRD_C: Interferon-related protein conserved region (392 - 447)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 451 a.a.
Protein Preferred Names Protein Names

interferon-related developmental regulator 1

  • 12-O-tetradecanoylphorbol-13-acetate-induced sequence 7

IFRD1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82762 IFRD1 Antibody (YA2507) WB Human
HY-P82762A IFRD1 Antibody (YA2507)(PBS only) WB Human

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 18
  • Spinocerebellar Ataxia Type 18

  • SCA18

  • Smna

  • Sensorimotor Neuropathy With Ataxia, Autosomal Dominant

  • Sensorimotor Neuropathy With Ataxia Autosomal Dominant

Lung Disease
  • Lung Diseases

  • Disorder Of Lung

  • Abnormality Of The Lung

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta IFRD1 VGNC VGNC:81331
Rattus norvegicus IFRD1 RGD RGD:2867
Canis familiaris IFRD1 VGNC VGNC:41882
Felis catus IFRD1 VGNC VGNC:67708
Bos taurus IFRD1 VGNC VGNC:30062
Mus musculus IFRD1 MGD MGI:1316717
Others IFRD1 NCBI