1. Gene
  2. IFRD1 - interferon related developmental regulator 1 Gene

IFRD1 - interferon related developmental regulator 1 Gene

Homo sapiens

Also known as PC4; TIS7

Gene ID: 3475 | Gene type: protein coding

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)

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

interferon-related developmental regulator 1

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

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