Gene Gene information from NCBI Gene database.
Entrez ID 3159
Gene name High mobility group AT-hook 1
Gene symbol HMGA1
Synonyms (NCBI Gene)
HMG-RHMGA1AHMGIY
Chromosome 6
Chromosome location 6p21.31
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 o
miRNA miRNA information provided by mirtarbase database.
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 assayqRT-PCR 19179606
MIRT003152 hsa-let-7a-5p Luciferase reporter assayqRT-PCR 19179606
MIRT001625 hsa-let-7b-5p pSILAC 18668040
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
E2F1 Activation 22389255
MYCN Unknown 16166307
SP1 Activation 17510387
SP1 Unknown 22389255
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600701 5010 ENSG00000137309
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes mellitus type 2, susceptibility to Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 12807722, 17342093, 18316571, 18473350
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17178855, 18316571
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27025651, 28000891, 29512693
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 17114012, 17178855, 17342093, 18316571, 18473350, 22898640
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 30999005
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 22961697
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 22249617, 26009886
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 17903177, 20194618 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 25483074
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30228296
★☆☆☆☆
Found in Text Mining only