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

HMGA1 - high mobility group AT-hook 1 Gene

Homo sapiens

Also known as HMG-R; HMGIY; HMGA1A

Gene ID: 3159 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference 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 Reference 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 Reference 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 Reference
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

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