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

IFRD1 - interferon related developmental regulator 1 Gene

中文名称:干扰素相关发育调节因子 1

种属: Homo sapiens

同用名: PC4; TIS7

基因 ID: 3475 | 基因类型: protein coding

关于 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.

功能概要

该基因是编码与干扰素-γ相关的蛋白质的直接早期基因。这种蛋白质可能作为转录共激活因子/抑制因子起作用,在胚胎发育和组织再生过程中控制特定细胞类型的生长和分化。该基因的突变与伴有共济失调的感觉/运动神经病有关。该基因也可能参与调节囊性纤维化肺病的发病机制。交替剪接导致多个转录本变体。[RefSeq 提供,2010 年 10 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

interferon-related developmental regulator 1

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

IFRD1 抗体

目录号 产品名 应用 反应物种
HY-P82762 IFRD1 Antibody (YA2507) WB Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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