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HMGA1 Gene

protein-coding   GIFtS: 67
GCID: GC06P037284

High Mobility Group AT-Hook 1

(Previous name: high-mobility group (nonhistone chromosomal) protein isoforms...)
(Previous symbol: HMGIY)
  See HMGA1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
High Mobility Group AT-Hook 11 2     HMG-R2
HMGIY1 2 3 5     HMGA1A2
High-Mobility Group (Nonhistone Chromosomal) Protein Isoforms I And Y1 2     High Mobility Group Protein HMG-I/HMG-Y2
High Mobility Group Protein A12 3     Nonhistone Chromosomal High-Mobility Group Protein HMG-I/HMG-Y2
High Mobility Group Protein R2 3     High Mobility Group AT-Hook Protein 13
HMG-I(Y)2 3     

External Ids:    HGNC: 50101   Entrez Gene: 31592   Ensembl: ENSG000001373097   OMIM: 6007015   UniProtKB: P170963   
ORGUL members:         

Export aliases for HMGA1 gene to outside databases

Previous GC identifers: GC06P034206 GC06P034251 GC06P034312 GC06P034205 GC06P033927 GC06P034209 GC06P034445 GC06P035768 GC06P036298


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HMGA1 Gene:
This gene encodes a non-histone protein involved in many cellular processes, including regulation of inducible
gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells.
The encoded protein preferentially binds to the minor groove of A+T-rich regions in double-stranded DNA. It has
little secondary structure in solution but assumes distinct conformations when bound to substrates such as DNA or
other proteins. The encoded protein is frequently acetylated and is found in the nucleus. At least seven
transcript variants encoding two different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for HMGA1 Gene:
HMGA1 (high mobility group AT-hook 1) is a protein-coding gene. Diseases associated with HMGA1 include pelvic lipomatosis, and ring chromosome 1. GO annotations related to this gene include enzyme binding and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: HMGA1_HUMAN, P17096
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 Wiki entry for HMGA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HMGA1 gene promoter:
         TBP   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HMGA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HMGA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21   Ensembl cytogenetic band:  6p21.31   HGNC cytogenetic band: 6p21

HMGA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGA1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P037284:  view genomic region     (about GC identifiers)

Start:
34,204,577 bp from pter      End:
34,214,008 bp from pter
Size:
9,432 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HMGA1_HUMAN, P17096 (See protein sequence)
Recommended Name: High mobility group protein HMG-I/HMG-Y  
Size: 107 amino acids; 11676 Da
Subunit: Interacts with HIPK2 (By similarity). Interacts with HIV-1 pre-integration complex
Mass spectrometry: Mass=11750; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl and 2
phosphate groups; Source=PubMed:15835918;
Mass spectrometry: Mass=11828; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl and 3
phosphate groups; Source=PubMed:15835918;
Mass spectrometry: Mass=11765; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl, 1 methyl
and 2 phosphate groups; Source=PubMed:15835918;
Mass spectrometry: Mass=11844; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl, 1 methyl
and 3 phosphate groups; Source=PubMed:15835918;
Mass spectrometry: Mass=11780; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl, 2 methyl
and 2 phosphate groups; Source=PubMed:15835918;
Mass spectrometry: Mass=11858; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl, 2 methyl
and 3 phosphate groups; Source=PubMed:15835918;
4 PDB 3D structures from and Proteopedia for HMGA1:
2EZD (3D)        2EZE (3D)        2EZF (3D)        2EZG (3D)    
Secondary accessions: P10910 Q5T6U9 Q9UKB0
Alternative splicing: 3 isoforms:  P17096-1   P17096-2   P17096-3   (Contains a phosphothreonine at position 42)

Explore the universe of human proteins at neXtProt for HMGA1: NX_P17096

Explore proteomics data for HMGA1 at MOPED

Post-translational modifications: 

  • 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 affinity1
  • HMG-Y is not methylated1
  • Methylation at Arg-58 is mutually exclusive with methylation at Arg-601
  • Ubiquitination2 at Lys7, Lys46
  • Modification sites at PhosphoSitePlus

  • See HMGA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_002122.1  NP_665906.1  NP_665908.1  NP_665909.1  NP_665910.1  NP_665912.1  

    ENSEMBL proteins: 
     ENSP00000288245   ENSP00000385693   ENSP00000308227   ENSP00000378452   ENSP00000399888  
     ENSP00000363230  
    Reactome Protein details: P17096

    HMGA1 Human Recombinant Protein Products:

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    Novus Biologicals HMGA1 Proteins
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    ProSpec Recombinant Protein for HMGA1
    Cloud-Clone Corp. Proteins for HMGA1

     
    Search eBioscience for Proteins for HMGA1 

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    LSBio Antibodies in human, mouse, rat for HMGA1

    HMGA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HMGA1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HMGA1
    Cloud-Clone Corp. CLIAs for HMGA1
    Search eBioscience for ELISAs for HMGA1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    HMG: High-mobility group / Canonical

    4 InterPro protein domains:
     IPR020478 AT_hook-like
     IPR017956 AT_hook_DNA-bd_motif
     IPR000116 HMGI/HMGY
     IPR000637 HMGI/Y_DNA-bd_CS

    Graphical View of Domain Structure for InterPro Entry P17096

    ProtoNet protein and cluster: P17096

    1 Blocks protein domain: IPB000116 High mobility group protein (HMGY) signature

    UniProtKB/Swiss-Prot: HMGA1_HUMAN, P17096
    Similarity: Belongs to the HMGA family
    Similarity: Contains 3 A.T hook DNA-binding domains


    Find genes that share domains with HMGA1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HMGA1_HUMAN, P17096
    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): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS10871404
    GO:0003680AT DNA binding TAS10428834
    GO:0003700sequence-specific DNA binding transcription factor activity IMP10428834
    GO:0003906DNA-(apurinic or apyrimidinic site) lyase activity IDA19465398
    GO:0005515protein binding IPI10428834
         
    Find genes that share ontologies with HMGA1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HMGA1:
     Increased G1 DNA content 

         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hmga1):
     cardiovascular system  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  no phenotypic analysis  reproductive system  tumorigenesis 

    Find genes that share phenotypes with HMGA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HMGA1: Hmga1tm1Afus Hmga1tm1Brun Hmga1tm1Cha Hmga1tm2Afus

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HMGA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HMGA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HMGA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HMGA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target HMGA1:
    hsa-mir-296-3p (MIRT038421), hsa-mir-16-5p (MIRT000270), hsa-mir-671-5p (MIRT039276), hsa-mir-125b-5p (MIRT000349), hsa-mir-324-3p (MIRT042853), hsa-let-7b-5p (MIRT001625), hsa-mir-18a-3p (MIRT040930), hsa-mir-877-3p (MIRT037176), hsa-mir-222-3p (MIRT046655), hsa-mir-30c-5p (MIRT047920), hsa-let-7a-5p (MIRT003152), hsa-mir-335-5p (MIRT018872), hsa-mir-98-5p (MIRT027852), hsa-mir-877-5p (MIRT037370), hsa-mir-124-3p (MIRT006562), hsa-mir-1301-3p (MIRT035976), hsa-mir-744-5p (MIRT037580), hsa-mir-331-3p (MIRT043495), hsa-mir-26a-5p (MIRT000110)

    Block miRNA regulation of human, mouse, rat HMGA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate HMGA1 (see all 54):
    hsa-miR-596 hsa-let-7d hsa-miR-4272 hsa-miR-1224-3p hsa-miR-15a hsa-miR-486-3p hsa-miR-3916 hsa-let-7g
    SwitchGear 3'UTR luciferase reporter plasmidHMGA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HMGA1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 6): HMGA1 (NM_145903)
    Sino Biological Human cDNA Clone for HMGA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HMGA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGA1
    Addgene plasmids for HMGA1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HMGA1_HUMAN, P17096: Nucleus. Chromosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    endoplasmic reticulum2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000785chromatin ----
    GO:0005634nucleus IDA16901784
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex TAS10428834
    GO:0005829cytosol TAS--

    Find genes that share ontologies with HMGA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for HMGA1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    APOBEC3G mediated resistance to HIV-1 infection0.00
    HIV Infection0.62
    Integration of provirus0.00
    Host Interactions of HIV factors0.60
    2-LTR circle formation0.00
    Early Phase of HIV Life Cycle0.00
    2Regulation of Glucokinase by Glucokinase Regulatory Protein
    Vpr-mediated nuclear import of PICs0.91
    Interactions of Vpr with host cellular proteins0.91
    3Cellular Senescence
    Cellular Senescence0.81
    Cellular responses to stress0.81
    4Packaging Of Telomere Ends
    DNA Damage/Telomere Stress Induced Senescence0.65
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)0.00
    5Autointegration results in viral DNA circles
    Autointegration results in viral DNA circles
    Integration of viral DNA into host genomic DNA0.00


    Find genes that share SuperPaths with HMGA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for HMGA1
        iNOS Signaling

    1 Cell Signaling Technology (CST) Pathway for HMGA1
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for HMGA1
        Immune response IL-2 activation and signaling pathway

    5 BioSystems Pathways for HMGA1
        Senescence and Autophagy
    Adipogenesis
    IL-4 signaling Pathway
    IL4-mediated signaling events
    Validated targets of C-MYC transcriptional activation


    Selected Reactome Pathways for HMGA1 (see all 7)
        APOBEC3G mediated resistance to HIV-1 infection
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)
    Integration of viral DNA into host genomic DNA
    2-LTR circle formation
    Vpr-mediated nuclear import of PICs


        Pathway & Disease-focused RT2 Profiler PCR Arrays including HMGA1: 
              HIV Host Response in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HMGA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HMGA1 (P170961, 2, 3 ENSP000003082274) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SP1P080472, 3, ENSP000003293574MINT-49729 MINT-49730 MINT-49727 MINT-49728 I2D: score=4 STRING: ENSP00000329357
    CEBPBP176762, 3, ENSP000003054224MINT-49733 MINT-49732 MINT-49731 I2D: score=6 STRING: ENSP00000305422
    ORC2Q134162, 3, ENSP000002342964MINT-7295311 I2D: score=1 STRING: ENSP00000234296
    PRMT6Q96LA81, 3, ENSP000003551454EBI-746854,EBI-912440 I2D: score=1 STRING: ENSP00000355145
    ELF1P325193, ENSP000002398824I2D: score=4 STRING: ENSP00000239882
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000737DNA catabolic process, endonucleolytic IDA19465398
    GO:0006268DNA unwinding involved in DNA replication NAS10428834
    GO:0006284base-excision repair IDA19465398
    GO:0006337nucleosome disassembly TAS10428834
    GO:0006351transcription, DNA-templated IEA--

    Find genes that share ontologies with HMGA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HMGA1

    Selected Novoseek inferred chemical compound relationships for HMGA1 gene (see all 31)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hmga 95.2 8 12930952 (2), 14714251 (1), 19687300 (1), 18670638 (1) (see all 7)
    mevalonate 80.5 34 9237866 (4), 8970163 (2), 10506194 (2), 10698924 (2) (see all 22)
    3-hydroxy-3-methylglutaryl-coa 79.1 24 15686906 (2), 11349148 (1), 15949312 (1), 17516993 (1) (see all 20)
    sterol 69 23 1657912 (3), 12142284 (2), 7534808 (1), 20041128 (1) (see all 16)
    27-hydroxycholesterol 63.7 4 18024962 (2), 17516993 (1), 19401598 (1)
    25-hydroxycholesterol 62.9 10 10333389 (2), 15136164 (2), 8057282 (1), 10506194 (1)
    lovastatin 62.7 19 9869647 (2), 10506194 (2), 15755505 (2), 17213228 (2) (see all 10)
    ptms 62.2 7 17455969 (4), 16752910 (1), 17960875 (1), 15591590 (1)
    dbds 61.4 3 11087394 (1), 11034995 (1)
    lanosterol 58.6 10 10333389 (3), 7840615 (2), 1657912 (1), 18024962 (1)



    Find genes that share compounds with HMGA1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HMGA1 gene (7 alternative transcripts): 
    NM_002131.3  NM_145899.2  NM_145901.2  NM_145902.2  NM_145903.2  NM_145905.2  NM_145904.1  

    Unigene Cluster for HMGA1:

    High mobility group AT-hook 1
    Hs.518805  [show with all ESTs]
    Unigene Representative Sequence: BC078664
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347617(uc003oiy.3 uc003ojd.3) ENST00000401473(uc003oiv.3 uc003oiw.3 uc003oix.3)
    ENST00000311487(uc003oit.3 uc011dso.2 uc003oiu.3) ENST00000478214
    ENST00000395004 ENST00000447654(uc003oiz.3 uc003oja.3) ENST00000374116(uc003ojc.3)

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    hsa-miR-596 hsa-let-7d hsa-miR-4272 hsa-miR-1224-3p hsa-miR-15a hsa-miR-486-3p hsa-miR-3916 hsa-let-7g
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    GenScript: all cDNA clones in your preferred vector (see all 6): HMGA1 (NM_145903)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGA1
    Addgene plasmids for HMGA1 
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    Additional mRNA sequence: 

    AF176039.1 AK096863.1 AK130027.1 AK301434.1 AK308245.1 BC004924.2 BC008832.2 BC008963.2 
    BC015789.1 BC063434.1 BC067083.1 BC071864.1 BC078664.1 BT006774.1 M23614.1 M23615.1 
    M23616.1 M23617.1 M23618.1 M23619.1 X14957.1 X14958.1 

    Selected DOTS entries (see all 75):

    DT.100701974  DT.99926692  DT.453256  DT.100844933  DT.97823072  DT.85104951  DT.100701923  DT.100701929 
    DT.100701978  DT.100040080  DT.121373399  DT.99926682  DT.95156524  DT.91833221  DT.100701937  DT.100860391 
    DT.100701917  DT.100701950  DT.92051550  DT.100701931  DT.100701955  DT.100701954  DT.100701910  DT.91728915 

    Selected AceView cDNA sequences (see all 2021):

    AU130307 BM764106 BU162902 BU845783 BE797718 BF111433 BM761227 BM843204 
    BQ230516 BQ690867 AU128051 BQ058329 BM809116 AU124870 BU859297 AW451959 
    BM761324 BQ948110 AI492133 BQ055878 BE268217 BM847606 BM853334 F07565 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HMGA1 (see all 24)    About this scheme

    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:                                                  -     -                 -     -     -                                               -     -               

    ExUns: 13c · 13d
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for HMGA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    HMGA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTGTCCCA
    HMGA1 Expression
    About this image


    HMGA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Ovary (Reproductive System)
             Secondary follicles
     
     Eye (Sensory Organs)
             Retinal Pigmented Epithelium
     
     Lymph (Hematopoietic System)
    HMGA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HMGA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518805
        Pathway & Disease-focused RT2 Profiler PCR Arrays including HMGA1: 
              HIV Host Response in human mouse rat
              Nuclear Receptors & Coregulators in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for HMGA1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hmga11 , 5 high mobility group AT-hook 11, 5 91.9(n)1
    97.2(a)1
      17 (14.50 cM)5
    153611  NM_001166536.11  NP_001160008.11 
     275566205 
    chicken
    (Gallus gallus)
    Aves HMGA11 high mobility group AT-hook 1 74.51(n)
    76.47(a)
      378795  NM_204369.1  NP_989700.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMGA16
    high mobility group AT-hook 1
    67(a)
    1 ↔ 1
    4(121529454-121563662)
    zebrafish
    (Danio rerio)
    Actinopterygii hmga1b6
    hmga1a6
    high mobility group AT-hook 1a
    52(a)
    51(a)
    many → 1
    many → 1
    6(54097469-54108141) ENSDARG00000070951
    23(3765200-3773434) ENSDARG00000028335


    ENSEMBL Gene Tree for HMGA1 (if available)
    TreeFam Gene Tree for HMGA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HMGA1 gene

    Find genes that share paralogs with HMGA1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for HMGA1 (see all 7)
    PGOHUM00000238542 PGOHUM00000239577 PGOHUM00000248528 PGOHUM00000245962 PGOHUM00000243380


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for HMGA1 (see all 281)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1843130011,2
    --33927236(+) TCCCAA/CACGCC 1 -- us2k10--------
    rs1890514191,2
    --33927239(+) CACACA/GCCCCT 1 -- us2k10--------
    rs1814380101,2
    --33927251(+) CCTGCC/TGTCAG 1 -- us2k10--------
    rs1484226851,2
    C--34118055(+) CGAGGC/TGGAAG 3 -- us2k10--------
    rs1860277971,2
    --34202589(+) CTCCCA/CTCCCC 3 -- us2k10--------
    rs1425834451,2
    C--34202629(+) GACGGG/TGAGAG 3 -- us2k10--------
    rs1900059721,2
    --34202639(+) GATGTA/GCCCGA 3 -- us2k10--------
    rs1169046461,2
    F--34202643(+) TACCCG/AAGAGA 3 -- us2k11Minor allele frequency- A:0.01EA 120
    rs578630131,2
    C,F--34202693(+) AGGCCG/ACCAGC 5 -- us2k12Minor allele frequency- A:0.10WA NA 238
    rs1826392301,2
    --34202839(+) TGGAGA/GCTGAG 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for HMGA1 (34204577 - 34214008 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HMGA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885784CNV Loss21882294
    dgv6830n71CNV Loss21882294
    nsv885781CNV Loss21882294
    esv24915CNV Loss19812545
    nsv823666CNV Gain20364138

    Human Gene Mutation Database (HGMD): HMGA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HMGA1
    DNA2.0 Custom Variant and Variant Library Synthesis for HMGA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 600701   
    OMIM disorders: 125853  
    UniProtKB/Swiss-Prot: HMGA1_HUMAN, P17096
  • Note=A chromosomal aberration involving HMGA1 is found in pulmonary chondroid hamartoma. Translocation
    t(6;14)(p21;q23-24) with RAD51B

  • 6 diseases for HMGA1:    
    About MalaCards
    pelvic lipomatosis    ring chromosome 1    atypical lipomatous tumor    lipomatosis
    malignant peripheral nerve sheath tumor    diabetes mellitus, noninsulin-dependent

    1 disease from the University of Copenhagen DISEASES database for HMGA1:
    Pelvic lipomatosis

    Find genes that share disorders with HMGA1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HMGA1 gene (see all 35)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neoplastic transformation 75.8 21 11134344 (3), 10945639 (2), 15350136 (1), 19074878 (1) (see all 13)
    lipoma 62.2 20 9212729 (4), 10744071 (3), 12970064 (2), 9187132 (2) (see all 8)
    uterine leiomyoma 52.8 7 9989879 (2), 10472377 (1), 9824199 (1), 10744071 (1)
    hamartoma 49.6 9 9060828 (3), 10744071 (3), 9824199 (1)
    benign tumor 48.7 5 10347561 (1), 11672774 (1), 10744071 (1), 9495195 (1) (see all 5)
    tumors 43.6 99 19820691 (5), 11134344 (4), 10472377 (3), 14714251 (3) (see all 53)
    ganglioneuroma 38.8 1 15650238 (1)
    thyroid carcinoma 35.1 6 19060921 (1), 7731681 (1), 16510570 (1)
    cancer 34.7 54 17510387 (4), 17455969 (3), 19916743 (3), 20408779 (3) (see all 34)
    myxoma 32.5 1 11550285 (1)

    Genetic Association Database (GAD): HMGA1
    Human Genome Epidemiology (HuGE) Navigator: HMGA1 (9 documents)

    Export disorders for HMGA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for HMGA1 gene, integrated from 10 sources (see all 412):
    (articles sorted by number of sources associating them with HMGA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. (PubMed id 8414980)1, 2, 3, 9 Friedmann M.... Reeves R. (Nucleic Acids Res. 1993)
    2. Homeodomain-interacting protein kinase-2 (HIPK2) phosphorylates HMGA1a at Ser-35, Thr-52, and Thr-77 and modulates its DNA binding affinity. (PubMed id 17960875)1, 2, 9 Zhang Q. and Wang Y. (J. Proteome Res. 2007)
    3. Tandem mass spectrometry for the examination of the posttranslational modifications of high-mobility group A1 proteins: symmetric and asymmetric dimethylation of Arg25 in HMGA1a protein. (PubMed id 15835918)1, 2, 9 Zou Y. and Wang Y. (Biochemistry 2005)
    4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (PLoS Genet. 2011)
    5. Functional variants of the HMGA1 gene and type 2 diabetes mellitus. (PubMed id 21364139)1, 4 Chiefari E....Brunetti A. (JAMA 2011)
    6. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    7. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Identification of 15 loci influencing height in a Korean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (J. Hum. Genet. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3159 HGNC: 5010 AceView: HMGA1 Ensembl:ENSG00000137309 euGenes: HUgn3159
    ECgene: HMGA1 H-InvDB: HMGA1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HMGA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HMGA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HMGA1 gene:
    Search GeneIP for patents involving HMGA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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