HMGA1 (high mobility group AT-hook 1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3159
Gene name Gene Name - the full gene name approved by the HGNC.
High mobility group AT-hook 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HMGA1
Synonyms (NCBI Gene) Gene synonyms aliases
HMG-R, HMGA1A, HMGIY
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 o
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(724)
miRTarBase ID miRNA Experiments Reference
MIRT000349 hsa-miR-125b-5p Luciferase reporter assay 17563749
MIRT000110 hsa-miR-26a-5p Luciferase reporter assay 17563749
MIRT003152 hsa-let-7a-5p Luciferase reporter assay, qRT-PCR 19179606
MIRT003152 hsa-let-7a-5p Luciferase reporter assay, qRT-PCR 19179606
MIRT001625 hsa-let-7b-5p pSILAC 18668040
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
E2F1 Activation 22389255
MYCN Unknown 16166307
SP1 Activation 17510387
SP1 Unknown 22389255
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(56)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding IDA 9253416
GO:0001221 Function Transcription coregulator binding IDA 10428834
GO:0003677 Function DNA binding EXP 9253416, 22615915
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
600701 5010 ENSG00000137309
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID P17096
Protein name High mobility group protein HMG-I/HMG-Y (HMG-I(Y)) (High mobility group AT-hook protein 1) (High mobility group protein A1) (High mobility group protein R)
Protein function HMG-I/Y bind preferentially to the minor groove of A+T rich regions in double-stranded DNA. It is suggested that these proteins could function in nucleosome phasing and in the 3'-end processing of mRNA transcripts. They are also involved in the
PDB 2EZD , 2EZE , 2EZF , 2EZG , 8CPG
Family and domains
Sequence 
MSESSSKSSQPLASKQEKDGTEKRGRGRPRKQPPVSPGTALVGSQKEPSEVPTPKRPRGR
PKGSKNKGAAKTRKTTTTPGRKPRGRPKKLEKEEEEGISQESSEEEQ
Sequence length 107
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Diabetes Mellitus type 2 diabetes mellitus N/A N/A GenCC
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (104)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 27027341
Adenocarcinoma Associate 27484584
Adenocarcinoma Follicular Stimulate 10714095
Adenocarcinoma of Lung Stimulate 24564251
Adenocarcinoma of Lung Associate 27025651, 28000891, 30353687, 33684161, 35805937
Adenoma Stimulate 30999005
Alzheimer Disease Associate 17903177, 20194618
Brain Neoplasms Associate 31116627
Breast Neoplasms Associate 17290307, 22932725, 23658826, 25572132, 25755724, 26265440, 26527623, 27723831, 28924209, 31167352, 31531802, 35504904, 36614035
Calcinosis Cutis Associate 23658826