HMGA1 - high mobility group AT-hook 1 Gene

Also Known as HMG-R; HMGIY; HMGA1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3159

About 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.

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables 5'-deoxyribose-5-phosphate lyase activity IDA
IDA: Inferred from direct assay
19465398 GOA
enables DNA binding EXP
EXP: Inferred from Experiment
9253416 GOA
enables DNA binding IDA
IDA: Inferred from direct assay
11069991 GOA
enables DNA binding, bending EXP
EXP: Inferred from Experiment
22615915 GOA
enables DNA-(apurinic or apyrimidinic site) endonuclease activity IDA
IDA: Inferred from direct assay
19465398 GOA
enables RNA binding IPI
IPI: Inferred from physical interaction
21087998 GOA
enables cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
9253416 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
16157300 GOA
enables minor groove of adenine-thymine-rich DNA binding IDA
IDA: Inferred from direct assay
9253416 GOA
enables molecular adaptor activity IDA
IDA: Inferred from direct assay
11069991 GOA
enables molecular function activator activity IMP
IMP: Inferred from mutant phenotype
21087998 GOA
enables nuclear receptor coactivator activity IMP
IMP: Inferred from mutant phenotype
10428834 GOA
enables nuclear retinoic acid receptor binding IDA
IDA: Inferred from direct assay
10428834 GOA
enables nuclear retinoid X receptor binding IDA
IDA: Inferred from direct assay
10428834 GOA
enables peroxisome proliferator activated receptor binding IDA
IDA: Inferred from direct assay
10428834 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9809067 GOA
enables transcription coactivator activity EXP
EXP: Inferred from Experiment
9253416 GOA
enables transcription coactivator activity IMP
IMP: Inferred from mutant phenotype
10428834 GOA
enables transcription coregulator binding IDA
IDA: Inferred from direct assay
10428834 GOA
Biological Process GO Annotation Evidence References Source
involved in base-excision repair IDA
IDA: Inferred from direct assay
19465398 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
16901784 GOA
involved in negative regulation of cell population proliferation IMP
IMP: Inferred from mutant phenotype
16901784 GOA
involved in oncogene-induced cell senescence IDA
IDA: Inferred from direct assay
16901784 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
10428834 GOA
Cellular Component GO Annotation Evidence References Source
located in nucleus IDA
IDA: Inferred from direct assay
16901784 GOA
located in senescence-associated heterochromatin focus IDA
IDA: Inferred from direct assay
16901784 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HMGA1 Protein Structure

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.
Protein Preferred Names Protein Names

high mobility group protein HMG-I/HMG-Y

  • high mobility group protein A1

HMGA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HMGA1 P17096 H1-3 Homo sapiens P16402 35271311
Intra
HMGA1 P17096 H2BC21 Homo sapiens Q16778 35271311
Intra
HMGA1 P17096 H2AC21 Homo sapiens Q8IUE6 33961781
Intra
HMGA1 P17096 H2AC21 Homo sapiens Q8IUE6 35271311
Intra
HMGA1 P17096 H2AC21 Homo sapiens Q8IUE6 30021884
Intra
HMGA1 P17096 H4C16 Homo sapiens P62805 35271311
Intra
HMGA1 P17096 ORC6 Homo sapiens Q9Y5N6 18234858
Intra
HMGA1 P17096 ORC6 Homo sapiens Q9Y5N6 18234858
Intra
HMGA1 P17096 ORC6 Homo sapiens Q9Y5N6 18234858
Cross: Cross-species interaction Intra: Intraspecies interaction

HMGA1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81440 HMGA1 Antibody (YA1185) IHC-P Human
HY-P81440A HMGA1 Antibody (YA1185)(PBS only) IHC-P Human

Related Diseases

Diseases Alias
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

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
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
Others HMGA1 NCBI