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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HMGA1 Gene

protein-coding   GIFtS: 67
GCID: GC06P035768

high mobility group AT-hook 1

(Previous name: high-mobility group (nonhistone chromosomal) protein isoforms...)
(Previous symbol: HMGIY)
 Explore 65 diseases affiliated with
HMGA1 via our new
 Human Malady Compendium 
Biological research products
for HMGA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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:         
NONCODE:n342882    

Export aliases for HMGA1 gene to outside databases

Previous GC identifers: GC06P034206 GC06P034251 GC06P034312 GC06P034205 GC06P033927 GC06P034209 GC06P034445


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HMGA1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HMGA1 gene promoter:
         TBP   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC06P035768:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Nucleus. Chromosome
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P17096

  • HMGA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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   ENSP00000318322   ENSP00000349871   ENSP00000378452   ENSP00000308227  
     ENSP00000385693   ENSP00000399888   ENSP00000363230  
    Reactome Protein details: P17096
    Human Recombinant Protein Products: 
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    Novus Biologicals HMGA1 Proteins
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    ProSpec Recombinant Protein for HMGA1
    Uscn Proteins for HMGA1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--


    HMGA1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HMGA1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HMGA1 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    miRNA
    Products:
        
    miRTarBase miRNAs that target HMGA1:
    hsa-let-7b (MIRT001625), hsa-mir-16 (MIRT000270), hsa-mir-125b (MIRT000349), hsa-let-7a (MIRT003152), hsa-mir-26a (MIRT000110)

    OriGene 3'-UTR Clone (see all 6): HMGA1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HMGA1
    8/54 QIAGEN miScript miRNA 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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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGA1

    Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (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 IPI16293633


    HMGA1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for HMGA1:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-outs for HMGA1: Hmga1tm1Afus Hmga1tm1Brun Hmga1tm1Cha Hmga1tm2Afus
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hmga1):
     cardiovascular system  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  no phenotypic analysis  reproductive system  tumorigenesis 

    HMGA1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/14 super-pathways (see all 14About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integration of viral DNA into host genomic DNA
    Integration of viral DNA into host genomic DNA1.00
    APOBEC3G mediated resistance to HIV-1 infection0.60
    Autointegration results in viral DNA circles1.00
    2Plus-strand DNA synthesis
    Integration of provirus0.12
    2-LTR circle formation0.00
    Early Phase of HIV Life Cycle0.09
    3HIV Infection
    HIV Infection1.00
    Host Interactions of HIV factors0.64
    4Immune response_IL-2 activation and signaling pathway
    Immune response IL-2 activation and signaling pathway1.00
    Immune response_IL-2 activation and signaling pathway1.00
    5Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    Vpr-mediated nuclear import of PICs0.76
    Interactions of Vpr with host cellular proteins0.70

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for HMGA1
        Immune response IL-2 activation and signaling pathway

    1 Downloadable PowerPoint Slide of QIAGEN 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 
        Adipogenesis
    Senescence and Autophagy
    IL-4 signaling Pathway
    IL4-mediated signaling events
    Validated targets of C-MYC transcriptional activation

    5/12        Reactome Pathways for HMGA1 (see all 12)
        Interactions of Vpr with host cellular proteins
    Early Phase of HIV Life Cycle
    Disease
    Host Interactions of HIV factors
    HIV Life Cycle



    HMGA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HMGA1

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

    5/81 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): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006268DNA unwinding involved in replication NAS10428834
    GO:0006284base-excision repair IDA19465398
    GO:0006337nucleosome disassembly TAS10428834
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent TAS10871404


    HMGA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HMGA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HMGA1
    10/31 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about HMGA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 Clusters for HMGA1:

    High mobility group AT-hook 1
    Hs.518805  [show with all ESTs], Hs.703764  [show with all ESTs]
    Unigene Representative Sequences: BC078664, BG027840
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347617(uc003oiy.3 uc003ojd.3) ENST00000327014 ENST00000357318(uc011dsp.2)
    ENST00000478214 ENST00000395004 ENST00000311487(uc003oit.3 uc011dso.2 uc003oiu.3)
    ENST00000401473(uc003oiv.3 uc003oiw.3 uc003oix.3) ENST00000447654(uc003oiz.3 uc003oja.3)
    ENST00000374116(uc003ojc.3)

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    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate HMGA1 (see all 54):
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMGA1

    Additional cDNA sequence: BC071863.1 

    24/80 DOTS entries (see all 80):

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

    24/2021 AceView cDNA sequences (see all 2021):

    AA443550 BM762544 BQ690867 BM761324 AW451959 BU151255 BQ949557 BQ653716 
    BM764106 AU130307 BM760693 BU845155 BQ690333 BU855297 BM557412 BM915342 
    AU124619 BE251221 AU139288 BM853334 CR595910 BE255828 CR620670 BU848667 

    GeneLoc Exon Structure

    5/24 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HMGA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTGTCCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    HMGA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Extraembryonic MesodermExtraembryonic Blood IslandsPrimitive ErythrocytesBlood
    Gut TubeHindgutHindgut Endoderm CellsEndoderm
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    Gut TubeHindgutGut Tube
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Sox17-GFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Secondary follicles (Primary Cell)Ovary, Reproductive System

    See HMGA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HMGA1

    SOURCE GeneReport for Unigene clusters: Hs.518805 Hs.703764
        SABiosciences Expression via Pathway-Focused 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

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    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for HMGA1 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HMGA11 high mobility group AT-hook 1 74.39(n)
    72.63(a)
      378795  NM_204369.1  NP_989700.1 
    lizard
    (Anolis carolinensis)
    Reptilia HMGA16
    --
    67(a)
    1 ↔ 1
    4(121529454-121549715)
    zebrafish
    (Danio rerio)
    Actinopterygii hmga1a1 high mobility group AT-hook 1a 58.61(n)
    58.24(a)
      406447  NM_213168.2  NP_998333.1 


    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)
    About This Section
    Paralogs for HMGA1 gene
    HMGA22  

    HMGA1 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for HMGA1 (see all 7)
    PGOHUM00000238542 PGOHUM00000239577 PGOHUM00000248528 PGOHUM00000245962 PGOHUM00000243380


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/230 NCBI SNPs in HMGA1 are shown (see all 230    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1860277971,2
    --34202589(+) CTCCCA/CTCCCC 3 -- us2k10--------
    rs1425834451,2
    --34202629(+) GACGGG/TGAGAG 3 -- us2k10--------
    rs1900059721,2
    --34202639(+) GATGTA/GCCCGA 3 -- us2k10--------
    rs1169046461,2
    --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--------
    rs556923031,2
    --34202879(+) GTTCCA/CGCGCT 5 -- us2k10--------
    rs1873192281,2
    --34203351(+) CCACCA/CCCCGC 5 -- us2k10--------
    rs340520201,2
    C,F,H,--34203406(+) ACTGCG/AAGGCC 5 -- us2k111Minor allele frequency- A:0.03NS NA WA CSA EA 1138
    rs1922653561,2
    --34203526(+) CCGGGG/TAGGAA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for HMGA1 (34204577 - 34214008 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HMGA1
         1 CNV: 69485
    Human Gene Mutation Database (HGMD): HMGA1

    SABiosciences Cancer Mutation PCR Assays
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    (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

    HMGA1 for disorders           About GeneDecksing

    OMIM gene information: 600701    OMIM disorders: --

    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

    20/65 diseases for HMGA1 (see all 65):    About MalaCards
    xeroderma pigmentosum, group a    malignant peripheral nerve sheath tumor    ring chromosomes    atypical lipomatous tumor
    xeroderma pigmentosum    pelvic lipomatosis    ring chromosome 1    dermatofibrosarcoma protuberans
    lipomatosis    dermatofibrosarcoma    ganglioneuroma    insulin resistance
    hpfh    lipoma    myxoma    benign tumors
    pancreatic ductal adenocarcinoma    pleomorphic adenoma    synovial sarcoma    gestational diabetes

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

    10/35 Novoseek 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)

    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

    PubMed articles for HMGA1 gene, integrated from 9 sources (see all 387):
    (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. (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. (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. (2005)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. Protein arginine methyltransferase 6 specifically methylates the nonhistone chromatin protein HMGA1a. (PubMed id 16157300)1, 2 Miranda T.B.... Clarke S. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. During apoptosis of tumor cells HMGA1a protein undergoes methylation: identification of the modification site by mass spectrometry. (PubMed id 12653562)1, 2 Sgarra R.... Giancotti V. (2003)
    8. HMGI/Y proteins: flexible regulators of transcription and chromatin structure. (PubMed id 11406267)1, 3 Reeves R. and Beckerbauer L. (2001)
    9. Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma. (PubMed id 11978964)1, 2 Blank C.... Bullerdiek J. (2001)
    10. Retinoid-dependent recruitment of a histone H1 displacement activity by retinoic acid receptor. (PubMed id 10428834)1, 2 Nagpal S....Chandraratna R.A.S. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3159 HGNC: 5010 AceView: HMGA1 Ensembl:ENSG00000137309 euGenes: HUgn3159
    ECgene: HMGA1 H-InvDB: HMGA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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