Human Gene HMGA1 (ENST00000447654.5) from GENCODE V44
  Description: Homo sapiens high mobility group AT-hook 1 (HMGA1), transcript variant 3, mRNA. (from RefSeq NM_145901)
RefSeq Summary (NM_145901): 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].
Gencode Transcript: ENST00000447654.5
Gencode Gene: ENSG00000137309.21
Transcript (Including UTRs)
   Position: hg38 chr6:34,236,873-34,246,230 Size: 9,358 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr6:34,240,781-34,244,884 Size: 4,104 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:34,236,873-34,246,230)mRNA (may differ from genome)Protein (107 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HMGA1_HUMAN
DESCRIPTION: RecName: Full=High mobility group protein HMG-I/HMG-Y; Short=HMG-I(Y); AltName: Full=High mobility group AT-hook protein 1; Short=High mobility group protein A1; AltName: Full=High mobility group protein R;
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.
SUBUNIT: Interacts with HIPK2 (By similarity). Interacts with HIV- 1 pre-integration complex.
INTERACTION: Q96LA8:PRMT6; NbExp=4; IntAct=EBI-746854, EBI-912440;
SUBCELLULAR LOCATION: Nucleus. Chromosome.
PTM: Constitutively phosphorylated on two or three sites. Phosphorylated upon DNA damage, probably by ATM or ATR. 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.
PTM: HMG-Y is not methylated.
PTM: Methylation at Arg-58 is mutually exclusive with methylation at Arg-60.
MASS SPECTROMETRY: Mass=11750; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl and 2 phosphate groups; Source=PubMed:15302935;
MASS SPECTROMETRY: Mass=11828; Mass_error=12; Method=MALDI; Range=2-107 (P17096-1); Note=With 1 acetyl and 3 phosphate groups; Source=PubMed:15302935;
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:15302935;
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:15302935;
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:15302935;
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:15302935;
DISEASE: Note=A chromosomal aberration involving HMGA1 is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23-24) with RAD51B.
SIMILARITY: Belongs to the HMGA family.
SIMILARITY: Contains 3 A.T hook DNA-binding domains.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HMGIYID221.html";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  MalaCards Disease Associations
  MalaCards Gene Search: HMGA1
Diseases sorted by gene-association score: diabetes mellitus, noninsulin-dependent* (124), ring chromosome 1 (17), pelvic lipomatosis (11), malignant ectomesenchymoma (10), lipomatosis, multiple (9), ectomesenchymoma (9), alpha thalassemia-intellectual disability syndrome type 1 (8), xeroderma pigmentosum, group a (7), uterine fibroid (6), hiv-1 (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D017638 Asbestos, Crocidolite
  • D019256 Cadmium Chloride
  • C014211 2,3,7,8-tetrachlorodibenzofuran
  • C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone
  • C063002 2,3-dimethoxy-1,4-naphthoquinone
  • C010914 2,4-diaminotoluene
  • C009505 4,4'-diaminodiphenylmethane
  • C027576 4-hydroxy-2-nonenal
  • C075773 4-phenylbutyric acid
  • D015124 8-Bromo Cyclic Adenosine Monophosphate
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 225.87 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1547.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -209.00489-0.427 Picture PostScript Text
3' UTR -515.801346-0.383 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020478 - AT_hook-like
IPR017956 - AT_hook_DNA-bd_motif
IPR000116 - HMGI/HMGY
IPR000637 - HMGI/Y_DNA-bd_CS

Pfam Domains:
PF02178 - AT hook motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2EZD - NMR MuPIT 2EZE - NMR MuPIT 2EZF - NMR 2EZG - NMR


ModBase Predicted Comparative 3D Structure on P17096
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001158 enhancer sequence-specific DNA binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0042974 retinoic acid receptor binding
GO:0042975 peroxisome proliferator activated receptor binding
GO:0046965 retinoid X receptor binding
GO:0051575 5'-deoxyribose-5-phosphate lyase activity

Biological Process:
GO:0006268 DNA unwinding involved in DNA replication
GO:0006284 base-excision repair
GO:0006337 nucleosome disassembly
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0008285 negative regulation of cell proliferation
GO:0009615 response to virus
GO:0016032 viral process
GO:0031936 negative regulation of chromatin silencing
GO:0035986 senescence-associated heterochromatin focus assembly
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0051169 nuclear transport
GO:0065003 macromolecular complex assembly
GO:0075713 establishment of integrated proviral latency
GO:0090402 oncogene-induced cell senescence
GO:2000774 positive regulation of cellular senescence

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005694 chromosome
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0035985 senescence-associated heterochromatin focus
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  LQ270830 - Sequence 158 from Patent WO2016071350.
LQ270832 - Sequence 160 from Patent WO2016071350.
LQ270838 - Sequence 166 from Patent WO2016071350.
LF213809 - JP 2014500723-A/21312: Polycomb-Associated Non-Coding RNAs.
MA449386 - JP 2018138019-A/21312: Polycomb-Associated Non-Coding RNAs.
AK096863 - Homo sapiens cDNA FLJ39544 fis, clone PUAEN2008980, moderately similar to HIGH MOBILITY GROUP PROTEIN HMG-I.
M23616 - Human HMG-Y protein isoform mRNA (HMGI gene), clone 8A.
M23617 - Human HMG-Y protein isoform mRNA (HMGI gene), clone 10A.
LQ270834 - Sequence 162 from Patent WO2016071350.
LQ270836 - Sequence 164 from Patent WO2016071350.
AK301434 - Homo sapiens cDNA FLJ54188 complete cds, moderately similar to High mobility group protein HMG-I/HMG-Y.
X14957 - Human hmgI mRNA for high mobility group protein I.
X14958 - Human hmgI mRNA for high mobility group protein Y.
AK308245 - Homo sapiens cDNA, FLJ98193.
BC063434 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:74577 IMAGE:5399570), complete cds.
BC004924 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:4854 IMAGE:3605116), complete cds.
BC008963 - Homo sapiens cDNA clone IMAGE:2962998, containing frame-shift errors.
BC008832 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:12816 IMAGE:4308914), complete cds.
BC071864 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:88534 IMAGE:6083428), complete cds.
BC071863 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:88532 IMAGE:4651720), complete cds.
BC067083 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:71296 IMAGE:4110270), complete cds.
M23614 - Human HMG-I protein isoform mRNA (HMGI gene), clone 7C.
M23615 - Human HMG-Y protein isoform mRNA (HMGI gene), clone 2B.
JD336546 - Sequence 317570 from Patent EP1572962.
AF176039 - Homo sapiens high mobility group protein-R mRNA, complete cds.
M23619 - Human HMG-I protein isoform mRNA (HMGI gene), clone 6A.
BC015789 - Homo sapiens high mobility group AT-hook 1, mRNA (cDNA clone MGC:23654 IMAGE:4866014), complete cds.
LQ270840 - Sequence 168 from Patent WO2016071350.
JD311875 - Sequence 292899 from Patent EP1572962.
M23618 - Human HMG-Y protein isoform mRNA (HMGI gene), clone 11D.
JD400072 - Sequence 381096 from Patent EP1572962.
KF731633 - UNVERIFIED: Homo sapiens high mobility group HMG-I-like mRNA, complete sequence.
AB590189 - Synthetic construct DNA, clone: pFN21AB7903, Homo sapiens HMGA1 gene for high mobility group AT-hook 1, without stop codon, in Flexi system.
BT006774 - Homo sapiens high mobility group AT-hook 1 mRNA, complete cds.
DQ893097 - Synthetic construct clone IMAGE:100005727; FLH193718.01X; RZPDo839B0479D high mobility group AT-hook 1 (HMGA1) gene, encodes complete protein.
EU176767 - Synthetic construct Homo sapiens clone IMAGE:100011538; FLH193717.01L; RZPDo839G02256D high mobility group AT-hook 1 (HMGA1) gene, encodes complete protein.
KJ891363 - Synthetic construct Homo sapiens clone ccsbBroadEn_00757 HMGA1 gene, encodes complete protein.
KJ891364 - Synthetic construct Homo sapiens clone ccsbBroadEn_00758 HMGA1 gene, encodes complete protein.
AK130027 - Homo sapiens cDNA FLJ26517 fis, clone KDN07769.
JD340535 - Sequence 321559 from Patent EP1572962.
JD122744 - Sequence 103768 from Patent EP1572962.
JD152637 - Sequence 133661 from Patent EP1572962.
JD365655 - Sequence 346679 from Patent EP1572962.
JD099983 - Sequence 81007 from Patent EP1572962.
JD278770 - Sequence 259794 from Patent EP1572962.
JD362048 - Sequence 343072 from Patent EP1572962.
JD278676 - Sequence 259700 from Patent EP1572962.
JD419618 - Sequence 400642 from Patent EP1572962.
JD133202 - Sequence 114226 from Patent EP1572962.
JD192218 - Sequence 173242 from Patent EP1572962.
JD516648 - Sequence 497672 from Patent EP1572962.
JD400834 - Sequence 381858 from Patent EP1572962.
JD037532 - Sequence 18556 from Patent EP1572962.
JD505053 - Sequence 486077 from Patent EP1572962.
JD079723 - Sequence 60747 from Patent EP1572962.
JD189151 - Sequence 170175 from Patent EP1572962.
JD278535 - Sequence 259559 from Patent EP1572962.
JD426277 - Sequence 407301 from Patent EP1572962.
JD101474 - Sequence 82498 from Patent EP1572962.
JD278964 - Sequence 259988 from Patent EP1572962.
JD396476 - Sequence 377500 from Patent EP1572962.
JD272644 - Sequence 253668 from Patent EP1572962.
JD485180 - Sequence 466204 from Patent EP1572962.
JD056090 - Sequence 37114 from Patent EP1572962.
JD354684 - Sequence 335708 from Patent EP1572962.
JD415943 - Sequence 396967 from Patent EP1572962.
LF210763 - JP 2014500723-A/18266: Polycomb-Associated Non-Coding RNAs.
MA446340 - JP 2018138019-A/18266: Polycomb-Associated Non-Coding RNAs.
JD252392 - Sequence 233416 from Patent EP1572962.
LF340902 - JP 2014500723-A/148405: Polycomb-Associated Non-Coding RNAs.
MA576479 - JP 2018138019-A/148405: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P17096 (Reactome details) participates in the following event(s):

R-HSA-8951690 Formation of RTC with integration competent viral DNA:BANF1:HMGA1:PSIP1
R-HSA-4647594 SAHF formation
R-HSA-164514 Integrase binds viral DNA ends
R-HSA-173115 Formation of Pre-Integration Complex (PIC)
R-HSA-162590 Import of PIC to the Host Nucleus
R-HSA-180622 Vpr binds nucleoporins
R-HSA-180627 Interaction of Vpr with importin alpha
R-HSA-180630 Association of APOBEC3G with Gag
R-HSA-164522 Terminal (3' end) cleavage of viral DNA
R-HSA-164845 Suicidal integration leading to inverted circle formation
R-HSA-175108 Target DNA binding
R-HSA-175117 1-LTR circle formation
R-HSA-175174 Association of Ku heterodimer with viral DNA ends
R-HSA-175250 Suicidal integration leading to smaller circles of viral DNA
R-HSA-162592 Integration of provirus
R-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF)
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-180689 APOBEC3G mediated resistance to HIV-1 infection
R-HSA-162594 Early Phase of HIV Life Cycle
R-HSA-177539 Autointegration results in viral DNA circles
R-HSA-175567 Integration of viral DNA into host genomic DNA
R-HSA-164843 2-LTR circle formation
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-176033 Interactions of Vpr with host cellular proteins
R-HSA-162909 Host Interactions of HIV factors
R-HSA-162587 HIV Life Cycle
R-HSA-2559583 Cellular Senescence
R-HSA-162906 HIV Infection
R-HSA-2262752 Cellular responses to stress
R-HSA-5663205 Infectious disease
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000447654.1, ENST00000447654.2, ENST00000447654.3, ENST00000447654.4, HMGA1_HUMAN, HMGIY, NM_145901, P10910, P17096, Q5T6U9, Q9UKB0, uc003oiz.1, uc003oiz.2, uc003oiz.3, uc003oiz.4
UCSC ID: ENST00000447654.5
RefSeq Accession: NM_145901
Protein: P17096 (aka HMGA1_HUMAN)
CCDS: CCDS4789.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.