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Aliases for HMGA1 Gene

Aliases for HMGA1 Gene

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

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

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 diabetes mellitus, noninsulin-dependent and pelvic lipomatosis. Among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and HIV Life Cycle. GO annotations related to this gene include enzyme binding and ligand-dependent nuclear receptor transcription coactivator activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMGA1 Gene

Genomics for HMGA1 Gene

Regulatory Elements for HMGA1 Gene

Promoters for HMGA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HMGA1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for HMGA1 Gene

Chromosome:
6
Start:
34,236,800 bp from pter
End:
34,246,231 bp from pter
Size:
9,432 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). Interacts with HIV-1 pre-integration complex.

    Three dimensional structures from OCA and Proteopedia for HMGA1 Gene

    Alternative splice isoforms for HMGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMGA1 Gene

Proteomics data for HMGA1 Gene at MOPED

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HMGA1 (HMGA1)

No data available for DME Specific Peptides for HMGA1 Gene

Domains & Families for HMGA1 Gene

Gene Families for HMGA1 Gene

Suggested Antigen Peptide Sequences for HMGA1 Gene

Graphical View of Domain Structure for InterPro Entry

P17096

UniProtKB/Swiss-Prot:

HMGA1_HUMAN :
  • Contains 3 A.T hook DNA-binding domains.
  • Belongs to the HMGA family.
Domain:
  • Contains 3 A.T hook DNA-binding domains.
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.

Gene Ontology (GO) - Molecular Function for HMGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity IDA 19465398
GO:0005515 protein binding IPI 10428834
GO:0008134 transcription factor binding IDA 10428834
GO:0042974 retinoic acid receptor binding IDA 10428834
GO:0046965 retinoid X receptor binding IDA 10428834
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 Model Products

miRNA for HMGA1 Gene

miRTarBase miRNAs that target HMGA1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
Jensen Localization Image for HMGA1 Gene COMPARTMENTS Subcellular localization image for HMGA1 gene
Compartment Confidence
cytosol 5
nucleus 5
endoplasmic reticulum 2
extracellular 2
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HMGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0090575 RNA polymerase II transcription factor complex ISS --
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

SIGNOR curated interactions for HMGA1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for HMGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006284 base-excision repair IDA 19465398
GO:0006337 nucleosome disassembly TAS 10428834
GO:0006355 regulation of transcription, DNA-templated IEA,TAS 10871404
GO:0031936 negative regulation of chromatin silencing TAS 10428834
GO:0035986 senescence-associated heterochromatin focus assembly IDA 16901784
genes like me logo Genes that share ontologies with HMGA1: view

Drugs & Compounds for HMGA1 Gene

(17) Drugs for HMGA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(14) 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

Unigene Clusters for HMGA1 Gene

High mobility group AT-hook 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
HMGA1

Expression for HMGA1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for HMGA1 Gene



SOURCE GeneReport for Unigene cluster for HMGA1 Gene Hs.518805

genes like me logo Genes that share expression patterns with HMGA1: view

Protein tissue co-expression partners for HMGA1 Gene

In Situ Assay Products

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 35
  • 100 (n)
  • 100 (a)
HMGA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMGA1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMGA1 36
  • 100 (a)
OneToOne
HMGA1 35
  • 95.33 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Hmga1-rs1 16
Hmga1 36
  • 97 (a)
OneToMany
Hmga1-rs1 36
  • 97 (a)
OneToMany
Hmga1 35
  • 91.9 (n)
  • 97.2 (a)
oppossum
(Monodelphis domestica)
Mammalia HMGA1 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmga1 35
  • 90.97 (n)
  • 96.26 (a)
chicken
(Gallus gallus)
Aves HMGA1 35
  • 74.51 (n)
  • 76.47 (a)
lizard
(Anolis carolinensis)
Reptilia HMGA1 36
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hmga1a 36
  • 51 (a)
OneToMany
hmga1b 36
  • 52 (a)
OneToMany
Species with no ortholog for HMGA1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs 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 from dbSNP and Humsavar for HMGA1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs933164 -- 34,244,254(+) CTGGC(A/T)CGGGG intron-variant
rs1011905 -- 34,241,739(-) CCCAG(A/G)GAAGG intron-variant
rs1011906 -- 34,241,673(-) TAAGA(C/G)GGCAA intron-variant
rs1011907 -- 34,241,671(-) AGACG(C/G)CAATA intron-variant
rs3798539 -- 34,242,067(-) GAAGG(A/C)GCGCC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv885781 CNV Loss 21882294
dgv6830n71 CNV Loss 21882294
nsv885784 CNV Loss 21882294
nsv823666 CNV Gain 20364138
esv24915 CNV Loss 19812545

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)

Relevant External Links for HMGA1 Gene

HapMap Linkage Disequilibrium report
HMGA1
Human Gene Mutation Database (HGMD)
HMGA1

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

Disorders for HMGA1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for HMGA1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, noninsulin-dependent
  • diabetes mellitus, noninsulin-dependent, 2
pelvic lipomatosis
  • excess of mature unencapsulated fatty tissue in the pelvis
lipoma
  • benign lipomatous tumor
leiomyoma, uterine, somatic
xeroderma pigmentosum, group a
  • xeroderma pigmentosum, type 1
- 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}.

Relevant External Links for HMGA1

Genetic Association Database (GAD)
HMGA1
Human Genome Epidemiology (HuGE) Navigator
HMGA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMGA1
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 Res. 1993) 2 3 4 23 67
  2. HMGA1 correlates with advanced tumor grade and decreased survival in pancreatic ductal adenocarcinoma. (PMID: 19820691) Hristov A.C. … Resar L.M. (Mod. Pathol. 2010) 3 23
  3. HMGA1 levels influence mitochondrial function and mitochondrial DNA repair efficiency. (PMID: 19687300) Mao L. … Reeves R. (Mol. Cell. Biol. 2009) 3 23
  4. Upregulation of MMP-2 by HMGA1 promotes transformation in undifferentiated, large-cell lung cancer. (PMID: 19903768) Hillion J. … Resar L.M. (Mol. Cancer Res. 2009) 3 23
  5. Detection of high-mobility group proteins A1 and A2 represents a valid diagnostic marker in post-pubertal testicular germ cell tumours. (PMID: 17935122) Franco R. … Chieffi P. (J. Pathol. 2008) 3 23

Products for HMGA1 Gene

Sources for HMGA1 Gene

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