1. Gene
  2. MAFA - MAF bZIP transcription factor A Gene

MAFA - MAF bZIP transcription factor A Gene

中文名称:MAF bZIP 转录因子 A

种属: Homo sapiens

同用名: INSDM; hMafA; RIPE3b1

基因 ID: 389692 | 基因类型: protein coding

关于 MAFA

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,428,064-143,430,732 (from NCBI)

This gene has 2 transcripts (splice variants), 168 orthologues, 6 paralogues and is associated with 1 phenotype.

功能概要

MAFA 是一种结合 RIPE3b 的转录因子,RIPE3b 是一种保守的增强子元件,可调节胰岛素基因的胰腺 β 细胞特异性表达 (INS;MIM 176730) (Olbrot 等人,2002 [PubMed 12011435]) 。[OMIM 提供,3 月 2008]

MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the Insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]

MAFA 基因产物(1)

mRNA Protein Name
NM_201589.4 NP_963883.2 transcription factor MafA
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA binding IDA
IDA: 通过直接分析推断
12368292 GOA
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
17941991 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of insulin secretion IDA
IDA: 通过直接分析推断
17941991 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
17941991 GOA
involved in response to glucose IDA
IDA: 通过直接分析推断
12368292 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
12368292 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MAFA 蛋白结构

Maf_N

Maf_N: Maf N-terminal region (111 - 145)

bZIP_Maf

bZIP_Maf: bZIP Maf transcription factor (227 - 317)

  • 0
  • 100
  • 200
  • 300
  • 353 a.a.
蛋白主名 其他名称

transcription factor MafA

RIPE3b1 activator

关联疾病

疾病名称 别名
Insulinomatosis And Diabetes Mellitus

Islet Cell Adenomatosis

INSDM

Nesidioblastosis

Fibrosarcoma

Neoplasms, Fibrous Tissue

Fibrocytic Tumor

Fibrosarcoma Of Soft Tissue

Fibrous Tissue Neoplasm

Hyperinsulinemic Hypoglycemia

Nesidioblastosis

Islet Cell Hyperplasia

Persistent Hyperinsulinemia Hypoglycemia Of Infancy

Hyperinsulinemic Hypoglycaemia

Diabetes Mellitus

Diabetes

Insulinoma

Islet Cell Adenoma

Insulin-Producing Tumor Of Islet Cells

Adenoma Islet Cell

Islet Cell Tumor

Experimental Organism Islet Cell Adenoma Neoplasm

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

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 MAFA VGNC VGNC:104464
Bos taurus MAFA VGNC VGNC:31138
Canis familiaris MAFA VGNC VGNC:42920
Rattus norvegicus MAFA RGD RGD:1562627
Mus musculus MAFA MGD MGI:2673307
Others MAFA NCBI