1. Gene
  2. HMGA1 - high mobility group AT-hook 1 Gene

HMGA1 - high mobility group AT-hook 1 Gene

中文名称:高机动性组 AT-hook 1

种属: Homo sapiens

同用名: HMG-R; HMGIY; HMGA1A

基因 ID: 3159 | 基因类型: protein coding

关于 HMGA1

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:34,236,873-34,246,231 (from NCBI)

This gene has 9 transcripts (splice variants), 103 orthologues and is associated with 33 phenotypes. Broad expression in lymph node (RPKM 58.3), bone marrow (RPKM 57.3) and 23 other tissues.

功能概要

该基因编码一种染色质相关蛋白,参与基因转录调控、逆转录病毒整合到染色体中以及癌细胞的转移进程。编码的蛋白质优先结合双链 DNA 中富含 AT 区域的小沟。已发现该基因编码不同异构体的多个转录变体。已在多条染色体上鉴定出该基因的假基因。[RefSeq 提供,2016 年 1 月]

This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of Cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]

HMGA1 基因产物(12)

mRNA Protein Name
NM_001319077.2 NP_001306006.1 high mobility group protein HMG-I/HMG-Y isoform b
NM_001319078.2 NP_001306007.1 high mobility group protein HMG-I/HMG-Y isoform a
NM_001319079.2 NP_001306008.1 high mobility group protein HMG-I/HMG-Y isoform a
NM_001319080.2 NP_001306009.1 high mobility group protein HMG-I/HMG-Y isoform c
NM_001319081.2 NP_001306010.1 high mobility group protein HMG-I/HMG-Y isoform a
NM_001319082.2 NP_001306011.1 high mobility group protein HMG-I/HMG-Y isoform a
NM_002131.4 NP_002122.1 high mobility group protein HMG-I/HMG-Y isoform b
NM_145899.3 NP_665906.1 high mobility group protein HMG-I/HMG-Y isoform a
NM_145901.3 NP_665908.1 high mobility group protein HMG-I/HMG-Y isoform a
NM_145902.3 NP_665909.1 high mobility group protein HMG-I/HMG-Y isoform b
NM_145903.3 NP_665910.1 high mobility group protein HMG-I/HMG-Y isoform b
NM_145905.3 NP_665912.1 high mobility group protein HMG-I/HMG-Y isoform b
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 5'-deoxyribose-5-phosphate lyase activity IDA
IDA: 通过直接分析推断
19465398 GOA
enables DNA binding EXP
EXP: 通过实验结果推断
9253416 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
11069991 GOA
enables DNA binding, bending EXP
EXP: 通过实验结果推断
22615915 GOA
enables DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
IDA: 通过直接分析推断
19465398 GOA
enables RNA binding IPI
IPI: 通过物理相互作用推断
21087998 GOA
enables cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
9253416 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
16157300 GOA
enables minor groove of adenine-thymine-rich DNA binding IDA
IDA: 通过直接分析推断
9253416 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
11069991 GOA
enables molecular function activator activity IMP
IMP: 通过突变表型推断
21087998 GOA
enables nuclear receptor coactivator activity IMP
IMP: 通过突变表型推断
10428834 GOA
enables nuclear retinoic acid receptor binding IDA
IDA: 通过直接分析推断
10428834 GOA
enables nuclear retinoid X receptor binding IDA
IDA: 通过直接分析推断
10428834 GOA
enables peroxisome proliferator activated receptor binding IDA
IDA: 通过直接分析推断
10428834 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9809067 GOA
enables transcription coactivator activity EXP
EXP: 通过实验结果推断
9253416 GOA
enables transcription coactivator activity IMP
IMP: 通过突变表型推断
10428834 GOA
enables transcription coregulator binding IDA
IDA: 通过直接分析推断
10428834 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in base-excision repair IDA
IDA: 通过直接分析推断
19465398 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
16901784 GOA
involved in negative regulation of cell population proliferation IMP
IMP: 通过突变表型推断
16901784 GOA
involved in oncogene-induced cell senescence IDA
IDA: 通过直接分析推断
16901784 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
10428834 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
16901784 GOA
located in senescence-associated heterochromatin focus IDA
IDA: 通过直接分析推断
16901784 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

HMGA1 蛋白结构

AT_hook

AT_hook: AT hook motif (23 - 33)

AT_hook

AT_hook: AT hook motif (55 - 67)

AT_hook

AT_hook: AT hook motif (82 - 89)

  • 0
  • 100
  • 107 a.a.
蛋白主名 其他名称

high mobility group protein HMG-I/HMG-Y

high mobility group protein A1

HMGA1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra HMGA1 P17096 H1-3 Homo sapiens P16402
Anti Tag CoIP
35271311
Intra HMGA1 P17096 H2BC21 Homo sapiens Q16778
Anti Tag CoIP
35271311
Intra HMGA1 P17096 H2AC21 Homo sapiens Q8IUE6
Anti Tag CoIP
33961781
Intra HMGA1 P17096 H2AC21 Homo sapiens Q8IUE6
Anti Tag CoIP
35271311
Intra HMGA1 P17096 H2AC21 Homo sapiens Q8IUE6
Crosslink
30021884
Intra HMGA1 P17096 H4C16 Homo sapiens P62805
Anti Tag CoIP
35271311
Intra HMGA1 P17096 ORC6 Homo sapiens Q9Y5N6
Pull Down
18234858
Intra HMGA1 P17096 ORC6 Homo sapiens Q9Y5N6
Anti Bait CoIP
18234858
Intra HMGA1 P17096 ORC6 Homo sapiens Q9Y5N6
BiFC
18234858
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Lipomatosis, Multiple

Lipoma

Familial Multiple Lipomatosis

Lipomatosis, Familial Multiple

Benign Lipomatous Tumor

Lipomatous Neoplasm

Multiple Lipomatosis

Fml

Lipo

Benign Tumor Of Adipose Tissue

Lipomatous Tumor

Tumor Of Adipose Tissue

Neoplasms, Adipose Tissue

Lipomas

Pelvic Lipomatosis

Excess Of Mature Unencapsulated Fatty Tissue In The Pelvis

Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma

Leiomyoma, Uterine

Uterine Leiomyoma

Uterine Fibroid

Uterine Fibroids

Plexiform Leiomyoma

UL

Leiomyoma Of Corpus Uteri

Uterus Fibroma

Breast Fibroadenoma

Fibroadenoma

Fibroadenoma Of Breast

Juvenile Fibroadenoma Of Breast

Cellular Fibroadenoma

Complex Fibroadenoma Of Breast

Juvenile Fibroadenoma

Fibroadenoma Nos

Fibroadenoma Unspecified Site

Dermatofibrosarcoma Protuberans

DFSP

Dermatofibrosarcoma

Giant Cell Fibroblastoma

Metastatic Dermatofibrosarcoma Protuberans

Familial Dermatofibrosarcoma Protuberans

Darier-Ferrand Tumor

Darier-Hoffmann Tumor

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Rattus norvegicus HMGA1 RGD RGD:628699
Bos taurus HMGA1 VGNC VGNC:29874
Mus musculus HMGA1 MGD MGI:96160
Canis familiaris HMGA1 VGNC VGNC:41709
Macaca mulatta HMGA1 VGNC VGNC:81076