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 g... See more...

Aliases for HMGA1 Gene

Aliases for HMGA1 Gene

  • High Mobility Group AT-Hook 1 2 3 5
  • High Mobility Group Protein HMG-I/HMG-Y 3 4
  • High Mobility Group Protein A1 3 4
  • High Mobility Group Protein R 3 4
  • HMGIY 3 4
  • High-Mobility Group (Nonhistone Chromosomal) Protein Isoforms I And Y 2
  • Nonhistone Chromosomal High-Mobility Group Protein HMG-I/HMG-Y 3
  • High Mobility Group AT-Hook Protein 1 4
  • HMG-I(Y) 4
  • HMGA1A 3
  • HMG-R 3
  • HMGA1 5

External Ids for HMGA1 Gene

Previous HGNC Symbols for HMGA1 Gene

  • HMGIY

Previous GeneCards Identifiers for HMGA1 Gene

  • GC06P034206
  • GC06P034251
  • GC06P034312
  • GC06P034205
  • GC06P033927
  • GC06P034209
  • GC06P034445
  • GC06P035768
  • GC06P036298
  • GC06P037284
  • GC06P034920
  • GC06P035503
  • GC06P042758
  • GC06P043092
  • GC06P043313
  • GC06P046013
  • GC06P037624
  • GC06P038313
  • GC06P038953
  • GC06P039541
  • GC06P040100
  • GC06P041163
  • GC06P041845
  • GC06P042493
  • GC06P047419
  • GC06P049472

Summaries for HMGA1 Gene

Entrez Gene Summary for HMGA1 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 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]

GeneCards Summary for HMGA1 Gene

HMGA1 (High Mobility Group AT-Hook 1) is a Protein Coding gene. Diseases associated with HMGA1 include Type 2 Diabetes Mellitus and Lipomatosis, Multiple. Among its related pathways are Preimplantation Embryo and IL4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include enzyme binding and nuclear receptor transcription coactivator activity.

UniProtKB/Swiss-Prot Summary for HMGA1 Gene

  • 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 transcription regulation of genes containing, or in close proximity to A+T-rich regions.

Gene Wiki entry for HMGA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMGA1 Gene

Genomics for HMGA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HMGA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J034233 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +5.4 5383 17.1 BCLAF1 SP1 ZNF207 ZNF654 NCOR1 IKZF1 MYC ZNF600 JUND ZNF592 SMIM29 MIR6835 HMGA1 LEMD2 VPS52 TAF11 HCG25 WDR46 DAXX RPS10
GH06J034223 Promoter/Enhancer 2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 5.2 -12.5 -12467 2.8 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 IKZF1 JUND ZNF592 ZMYM3 RPS10 TAF11 DAXX VPS52 LEMD2 ITPR3 WDR46 KIFC1 RGL2 RPL35P2
GH06J033837 Enhancer 1.4 ENCODE CraniofacialAtlas dbSUPER 5.6 -397.0 -396973 4.2 MYC NCOR1 IKZF1 ZNF600 JUND ZNF592 CEBPA NFIC ZIC2 ZBTB10 LEMD2 RXRB RING1 BRD2 PHF1 WDR46 DAXX IP6K3 VPS52 HCG25
GH06J033843 Enhancer 0.8 Ensembl dbSUPER 5.3 -393.4 -393430 1.7 MYC ZIC2 ZNF341 MNT ZNF189 EGR1 RLF KLF1 L3MBTL2 MEIS2 MLN LEMD2 GRM4 MIR1275 IP6K3 HMGA1 HSALNG0049580 lnc-ITPR3-9
GH06J034181 Enhancer 0.9 FANTOM5 ENCODE 4.5 -54.1 -54094 1.7 RAD51 CBFB BHLHE40 SPI1 MYC MAX POLR2A ATF2 TOE1 USF2 HSALNG0049598 GRM4 IP6K3 LEMD2 RPS10 HMGA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HMGA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMGA1

Top Transcription factor binding sites by QIAGEN in the HMGA1 gene promoter:
  • TBP

Genomic Locations for HMGA1 Gene

Latest Assembly
chr6:34,236,873-34,246,231
(GRCh38/hg38)
Size:
9,359 bases
Orientation:
Plus strand

Previous Assembly
chr6:34,204,650-34,214,008
(GRCh37/hg19 by Entrez Gene)
Size:
9,359 bases
Orientation:
Plus strand

chr6:34,204,650-34,214,008
(GRCh37/hg19 by Ensembl)
Size:
9,359 bases
Orientation:
Plus strand

Genomic View for HMGA1 Gene

Genes around HMGA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMGA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMGA1 Gene

Proteins for HMGA1 Gene

  • Protein details for HMGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17096-HMGA1_HUMAN
    Recommended name:
    High mobility group protein HMG-I/HMG-Y
    Protein Accession:
    P17096
    Secondary Accessions:
    • P10910
    • Q5T6U9
    • Q9UKB0

    Protein attributes for HMGA1 Gene

    Size:
    107 amino acids
    Molecular mass:
    11676 Da
    Quaternary structure:
    • Interacts with HIPK2 (By similarity).

    Three dimensional structures from OCA and Proteopedia for HMGA1 Gene

    Alternative splice isoforms for HMGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMGA1 Gene

Post-translational modifications for HMGA1 Gene

  • Constitutively phosphorylated on two or three sites. Hyperphosphorylated at early stages of apoptosis, followed by dephosphorylation and methylation, which coincides with chromatin condensation. Isoforms HMG-I and HMG-Y can be phosphorylated by HIPK2. Phosphorylation of HMG-I at Ser-36, Thr-53 and Thr-78 and of HMG-Y at Thr-42 and Thr-67 by HIPK2 modulates DNA-binding affinity.
  • HMG-Y is not methylated.
  • Methylation at Arg-58 is mutually exclusive with methylation at Arg-60.
  • Ubiquitination at Lys7 and Lys46
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for HMGA1 Gene

Domains & Families for HMGA1 Gene

Gene Families for HMGA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HMGA1 Gene

InterPro:
Blocks:
  • High mobility group protein (HMGY) signature

Suggested Antigen Peptide Sequences for HMGA1 Gene

GenScript: Design optimal peptide antigens:
  • High mobility group protein R (HMGA1_HUMAN)
  • High mobility group AT-hook 1 (Q5T6U8_HUMAN)
  • HMGA1 protein (Q6IPL9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17096

UniProtKB/Swiss-Prot:

HMGA1_HUMAN :
  • Belongs to the HMGA family.
Family:
  • Belongs to the HMGA family.
genes like me logo Genes that share domains with HMGA1: view

Function for HMGA1 Gene

Molecular function for HMGA1 Gene

UniProtKB/Swiss-Prot 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 transcription regulation of genes containing, or in close proximity to A+T-rich regions.

Phenotypes From GWAS Catalog for HMGA1 Gene

Gene Ontology (GO) - Molecular Function for HMGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 proximal promoter sequence-specific DNA binding IDA 9253416
GO:0003677 DNA binding ISS --
GO:0003680 AT DNA binding IDA,TAS 10428834
GO:0003682 chromatin binding ISS --
GO:0003712 transcription coregulator activity IBA 21873635
genes like me logo Genes that share ontologies with HMGA1: view
genes like me logo Genes that share phenotypes with HMGA1: view

Human Phenotype Ontology for HMGA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HMGA1 Gene

MGI Knock Outs for HMGA1:

miRNA for HMGA1 Gene

miRTarBase miRNAs that target HMGA1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA1

Clone products for research

  • Addgene plasmids for HMGA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HMGA1 Gene

Localization for HMGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMGA1 Gene

Nucleus. Chromosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMGA1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HMGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus IBA,IDA 16901784
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex TAS 10428834
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with HMGA1: view

Pathways & Interactions for HMGA1 Gene

genes like me logo Genes that share pathways with HMGA1: view

Pathways by source for HMGA1 Gene

1 Qiagen pathway for HMGA1 Gene
  • iNOS Signaling
1 Cell Signaling Technology pathway for HMGA1 Gene

SIGNOR curated interactions for HMGA1 Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for HMGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006268 DNA unwinding involved in DNA replication NAS 10428834
GO:0006284 base-excision repair IDA --
GO:0006337 nucleosome disassembly TAS 10428834
GO:0006355 regulation of transcription, DNA-templated TAS,IBA 21873635
GO:0008285 negative regulation of cell proliferation IMP 16901784
genes like me logo Genes that share ontologies with HMGA1: view

Drugs & Compounds for HMGA1 Gene

(18) Drugs for HMGA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(13) Additional Compounds for HMGA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HMGA1: view

Transcripts for HMGA1 Gene

mRNA/cDNA for HMGA1 Gene

13 REFSEQ mRNAs :
32 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMGA1

Clone products for research

  • Addgene plasmids for HMGA1

Alternative Splicing Database (ASD) splice patterns (SP) for HMGA1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e · 4f ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - - - - - - - -
SP16: - - - - -
SP17: - - - - - -
SP18: - - - - -
SP19: -
SP20: - - - - - -
SP21: - - - - - - - -
SP22:
SP23: - -
SP24: - - - - - - - -

ExUns: 13c · 13d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:

Relevant External Links for HMGA1 Gene

GeneLoc Exon Structure for
HMGA1

Expression for HMGA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HMGA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMGA1 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.6).

Protein differential expression in normal tissues from HIPED for HMGA1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.6), Amniocyte (8.2), Tlymphocyte (7.7), Blymphocyte (6.7), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HMGA1 Gene



Protein tissue co-expression partners for HMGA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMGA1

SOURCE GeneReport for Unigene cluster for HMGA1 Gene:

Hs.518805

Evidence on tissue expression from TISSUES for HMGA1 Gene

  • Pancreas(5)
  • Liver(4.9)
  • Nervous system(4.9)
  • Skin(4.9)
  • Lung(4.8)
  • Blood(4.8)
  • Intestine(4.8)
  • Muscle(4.7)
  • Eye(4.7)
  • Stomach(4.1)
  • Kidney(3.7)
  • Heart(3.3)
  • Bone(3.2)
  • Lymph node(2.4)
  • Bone marrow(2.3)
  • Thyroid gland(2.1)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HMGA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HMGA1: view

No data available for mRNA Expression by UniProt/SwissProt for HMGA1 Gene

Orthologs for HMGA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HMGA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HMGA1 29 30
  • 100 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HMGA1 30
  • 98 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hmga1 16 30
  • 97 (a)
OneToMany
Hmga1-rs1 29 30
  • 91.9 (n)
OneToMany
Hmga1b 16
Dog
(Canis familiaris)
Mammalia HMGA1 29 30
  • 95.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HMGA1 30
  • 94 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hmga1 29
  • 90.97 (n)
Chicken
(Gallus gallus)
Aves HMGA1 29
  • 74.51 (n)
Lizard
(Anolis carolinensis)
Reptilia HMGA1 30
  • 67 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii hmga1b 30
  • 52 (a)
OneToMany
hmga1a 30
  • 51 (a)
OneToMany
Species where no ortholog for HMGA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HMGA1 Gene

ENSEMBL:
Gene Tree for HMGA1 (if available)
TreeFam:
Gene Tree for HMGA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HMGA1: view image
Alliance of Genome Resources:
Additional Orthologs for HMGA1

Paralogs for HMGA1 Gene

Pseudogenes.org Pseudogenes for HMGA1 Gene

genes like me logo Genes that share paralogs with HMGA1: view

No data available for Paralogs for HMGA1 Gene

Variants for HMGA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMGA1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs11266792 Benign: not provided 34,240,837(+) C/T
NM_145899.3(HMGA1):c.57C>T (p.Asp19=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HMGA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HMGA1 Gene

Variant ID Type Subtype PubMed ID
dgv10616n54 CNV gain 21841781
dgv10617n54 CNV gain 21841781
esv24915 CNV loss 19812545
nsv1137544 CNV deletion 24896259
nsv602863 CNV loss 21841781
nsv602865 CNV loss 21841781
nsv602866 CNV loss 21841781
nsv823666 CNV gain 20364138
nsv969388 CNV duplication 23825009

Variation tolerance for HMGA1 Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMGA1 Gene

Human Gene Mutation Database (HGMD)
HMGA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMGA1
Leiden Open Variation Database (LOVD)
HMGA1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMGA1 Gene

Disorders for HMGA1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HMGA1 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
type 2 diabetes mellitus
  • t2d
lipomatosis, multiple
  • lipomatosis, familial multiple; fml
ring chromosome 1
  • chromosome 1 ring
pelvic lipomatosis
  • excess of mature unencapsulated fatty tissue in the pelvis
ectomesenchymoma
  • rhabdomyosarcoma with ganglionic differentiation
- elite association - COSMIC cancer census association via MalaCards
Search HMGA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HMGA1_HUMAN
  • Note=A chromosomal aberration involving HMGA1 is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23-24) with RAD51B. {ECO:0000269 PubMed:11978964}.

Additional Disease Information for HMGA1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HMGA1: view

No data available for Genatlas for HMGA1 Gene

Publications for HMGA1 Gene

  1. Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. (PMID: 8414980) Friedmann M … Reeves R (Nucleic acids research 1993) 2 3 4 22
  2. Functional variants of the HMGA1 gene and type 2 diabetes mellitus. (PMID: 21364139) Chiefari E … Brunetti A (JAMA 2011) 3 40 72
  3. Homeodomain-interacting protein kinase-2 (HIPK2) phosphorylates HMGA1a at Ser-35, Thr-52, and Thr-77 and modulates its DNA binding affinity. (PMID: 17960875) Zhang Q … Wang Y (Journal of proteome research 2007) 3 4 22
  4. Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice. (PMID: 15924147) Foti D … Brunetti A (Nature medicine 2005) 3 22 72
  5. Serine ADP-Ribosylation Depends on HPF1. (PMID: 28190768) Bonfiglio JJ … Matic I (Molecular cell 2017) 3 4

Products for HMGA1 Gene