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HMGA1 Gene

protein-coding GIFtS: 60

GC06P034312

high mobility group AT-hook 1
(Previous name: high-mobility group (nonhistone chromosomal) protein isoforms I and Y )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HMGIY)

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

Aliases
HMG-I(Y) ^³
HMG-R ^²
HMGA1A ^²
HMGIY ^², ³, ⁵
MGC12816 ^²
MGC4242 ^²
MGC4854 ^²
OTTHUMP00000016222 ^²
OTTHUMP00000016223 ^²
OTTHUMP00000016224 ^²
OTTHUMP00000039618 ^²

Descriptions
High mobility group AT-hook protein 1 ^³
High mobility group protein A1 ^³
High mobility group protein R ^³
high mobility group AT-hook 1 ^²
high-mobility group (nonhistone chromosomal) protein isoforms I and Y ^¹, ²
nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y ^²

External Ids
HGNC: 5010¹
Entrez Gene: 3159²
UniProtKB: P17096³
Ensembl: ENSG00000137309⁷

Search outside databases for aliases for HMGA1 gene

Previous GC identifers: GC06P034206 GC06P034251

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HMGA1 gene

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)

GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06P034312: (about GC identifiers)

Start:	34,312,628 bp from pter
End:	34,321,986 bp from pter
Size:	9,359 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000006.10 NT_007592.14

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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

Subcellular location: Nucleus

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;

PDB structures from and Proteopedia :

2EZD (3D)

2EZE (3D)

2EZF (3D)

2EZG (3D)

Secondary accessions: P10910 Q5T6U9 Q9UKB0

Alternative splicing: 3 isoforms: P17096-1 P17096-2 P17096-3

Post-translational modifications:

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. Isoform HMG-Y can be phosphorylated by

HIPK2 (By similarity)¹

HMG-Y is not methylated¹

Methylation at Arg-58 is mutually exclusive with methylation at Arg-60¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (7 alternative transcripts):

NP_002122.1 NP_665906.1 NP_665908.1 NP_665909.1 NP_665910.1 NP_665911.1 NP_665912.1

ENSEMBL proteins:

ENSP00000308227 ENSP00000288245 ENSP00000349871 ENSP00000318322 ENSP00000385693 ENSP00000353617

ENSP00000363231 ENSP00000363230 ENSP00000378452

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (HMGA1a / HMGA1b)
	Human Recombinant Proteins from Abnova (HMGA1)

OriGene Purified Recombinant Human Proteins (see all 2): HMGA1

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000785	chromatin	IEA	--
GO:0005634	nucleus	IEA	--
GO:0005667	transcription factor complex	TAS	10428834
GO:0005694	chromosome	IEA	--
GO:0005829	cytosol	EXP	12228227 15479846

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Antibodies for HMGA1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (HMGA1a / HMGA1b), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HMGA1)
	Novus Biologicals Antibodies for HMGA1

Assays for HMGA1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HMGA1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HMGA1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_145899

Applied Biosystems Silencer® siRNAs for HMGA1

Sigma-Aldrich siRNA for HMGA1

Sigma-Aldrich shRNA for HMGA1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for HMGA1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_002131
Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_002131
untagged cDNA clones in CMV expression vector (see all 7): NM_002131

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_145901

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

11 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Hmga1):

	digestive/alimentary	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	muscle	no phenotypic analysis	reproductive system
tumorigenesis

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003680	AT DNA binding	TAS	10428834
GO:0003700	transcription factor activity	IMP	10428834
GO:0030374	ligand-dependent nuclear receptor transcription coactivator activity	IMP	10428834
GO:0042975	peroxisome proliferator activated receptor binding	IDA	10428834
GO:0046965	retinoid X receptor binding	IDA	10428834

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for HMGA1 (Your Favorite Gene powered by Ingenuity)

IL-4 Signaling

GeneDecks HMGA1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for HMGA1

5/44 Interacting proteins for HMGA1 (ENSP00000363231³ P17096^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 44 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIPK2	Q9H2X6¹	STRING (score=.994) EBI-746858, EBI-348345
PRMT6	Q96LA8¹	STRING (score=.869) EBI-746858, EBI-912440
CDC2	P06493¹	EBI-746854, EBI-444308
SP1	P08047²	MINT-49729 MINT-49730 MINT-49727 MINT-49728
CEBPB	P17676²	MINT-49733 MINT-49732 MINT-49731

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5/10 Gene Ontology (GO) biological process terms (links to tree view) (see all 10 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006268	DNA unwinding during replication	NAS	10428834
GO:0006337	nucleosome disassembly	TAS	10428834
GO:0006345	loss of chromatin silencing	TAS	10428834
GO:0006355	regulation of transcription, DNA-dependent	TAS	10871404
GO:0006461	protein complex assembly	TAS	10428834

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HMGA1
10/20 Novoseek chemical compound relationships for HMGA1 gene (see all 20 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
mevalonate	79.60	33	9237866 (4), 8970163 (2), 10506194 (2), 10698924 (2) (see all 21)
3-hydroxy-3-methylglutaryl-coa	78.12	21	15686906 (2), 11349148 (1), 15949312 (1), 17516993 (1) (see all 17)
sterol	67.51	21	1657912 (3), 12142284 (2), 7534808 (1), 8970163 (1) (see all 14)
ptms	65.78	7	17455969 (4), 16752910 (1), 17960875 (1), 15591590 (1)
25-hydroxycholesterol	64.54	10	10333389 (2), 15136164 (2), 8057282 (1), 10506194 (1)
dbds	63.50	3	11087394 (1), 11034995 (1)
lanosterol	60.74	10	10333389 (3), 7840615 (2), 1657912 (1), 18024962 (1)
27-hydroxycholesterol	58.99	3	18024962 (2), 17516993 (1)
geranylgeraniol	47.17	2	12477733 (1)
cholesterol	45.80	54	18024962 (5), 7534808 (2), 11349148 (2), 12518023 (2) (see all 28)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HMGA1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HMGA1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 7): NM_145899

Sigma-Aldrich siRNA for HMGA1

Sigma-Aldrich shRNA for HMGA1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002131 NM_145899 NM_145901 NM_145902 NM_145903 NM_145905

REFSEQ mRNAs for HMGA1 gene (7 alternative transcripts):

NM_002131.3 NM_145899.2 NM_145901.2 NM_145902.2 NM_145903.2 NM_145904.1 NM_145905.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002131 NM_145899 NM_145901 NM_145902 NM_145903 NM_145905

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 7): NM_002131
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 7): NM_002131
                                 untagged cDNA clones in CMV expression vector (see all 7): NM_002131

Additional cDNA sequence: BC071863.1

24/80 DOTS entries (see all 80 ):

DT.100701974 DT.99926692 DT.100844933 DT.453256 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 ):

BU501806 BE251221 BQ949125 BQ648276 BE255828 BU556555 AI806842 AA338134

AW674720 AU139288 BM762544 BM766747 BM915342 BM551857 CR598411 CR613994

CR591405 BQ653716 BF111433 BE258156 BQ058329 BQ949557 BU845071 CR596333

highest scoring ESTs for HMGA1:

AW005489 AA071304 AA074087 AA074170 AA074239 AA079220 AA079221 AA088392 AA088558 AA113003

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

GeneLoc Exon Structure

5/24 Alternative Splicing Database (ASD) splice patterns (SP) for HMGA1 (see all 24 )

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:

About this scheme

ECgene alternative splicing isoforms for HMGA1

9 Ensembl transcripts including schematic representations:

ENST00000311487 ENST00000347617 ENST00000357318 ENST00000327014 ENST00000401473 ENST00000360434

ENST00000374117 ENST00000374116 ENST00000395004

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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HMGA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HMGA1

¹ / ² / ³

6 probe-sets matching HMGA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
64363_f_at²^{, 3}	U95-C	2	1.00	0.75	0.99	1.19	AW005489	1.00	1.00	1.00	1
39704_s_at²^{, 3}	U95-A	3	1.00	0.74	0.99	0.82	L17131	0.20	1.00	0.72	1
210457_x_at²^{, 3}	U133-A	3	1.00	0.77	--	--	AF176039	0.80	1.00	0.91	1
206074_s_at²^{, 3}	U133-A	2	1.00	0.73	--	--	NM_002131	0.60	1.00	0.82	1
210457_x_at²	U133Plus2	3	1.00	0.77	--	--	--	--	--	--	--
206074_s_at²	U133Plus2	2	1.00	0.73	--	--	--	--	--	--	--

GeneDecks HMGA1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene clusters: Hs.518805 Hs.703764
Expression variation in blood from EXPOLDB for HMGA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for HMGA1 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	HMGA1¹	--	high mobility group AT-hook 1	95.14(n) 100(a)	442946 NM_001003387.1 NP_001003387.1
chimpanzee (Pan troglodytes)	HMGA1¹	--	high mobility group AT-hook 1	99.31(n) 97.92(a)	746594 XM_001154232.1 XP_001154232.1
cow (Bos taurus)	HMGA1¹	--	high mobility group AT-hook 1	94.44(n) 98.96(a)	618849 NM_001076523.1 NP_001069991.1
rat (Rattus norvegicus)	Hmga1¹	--	high mobility group AT-hook 1	90.62(n) 95.83(a)	117062 NM_139327.1 NP_647543.1
mouse (Mus musculus)	Hmga1^{1, 5}	17 (13.19 cM)⁵	high mobility group AT-hook 1^{1, 5}	92.01(n)¹ 96.87(a)¹	15361¹ NM_001025427.2¹ NP_001020598.1¹ AF285780⁵ AK010617⁵ (see all 20)

About this table Species with no ortholog for HMGA1

ENSEMBL Gene Tree for HMGA1

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

HMGA2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/68 NCBI SNPs in HMGA1 are shown (see all 68 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 40)

AB	SNP ID	Valid	Chr 6 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs1150783^1,2	C,H	34321274(-)	`CTGTAG/ACCGAA`	6	--	ut3¹ ese³		2		EA	178
--	rs6937622^1,2	C	34312263(+)	`CCTGGA/GGGGGG`	5	--	ng5¹ tfbs³ trp³		0	--	--	--	--
--	rs11557697^1,2	H	34316543(-)	`TCGACT/CCACTC`	6	G/E	mis¹ ese³		4		EU EA WA	394
--	rs28365876^1,2	F	34312041(+)	`ATTTCA/CCAAGT`	5	--	ng5¹		2		MN EA	1252
--	rs2780219^1,2	C	34320721(-)	`AGGGGC/TGGGGG`	6	--	ut3¹ ese³		0	--	--	--	--
	rs9380423^1,2	H	34312660(+)	`GCGCTC/TCTCTA`	6	--	ut5¹ ng5¹ ese³		4		EU EA WA	410
	rs6457768^1,2	A,C,H	34317360(+)	`GGCTGC/GCAGCC`	6	--	int¹		4		EU EA WA	410
	rs12192171^1,2	C,F,H	34314847(+)	`CACCAA/GCCACC`	6	--	int¹		5		EU EA WA	596
	rs3798539^1,2	C,F,H	34317822(-)	`GAAGGC/AGCGCC`	6	--	int¹		5		EA WA	1976
	rs1011905^1,2	C,F	34317494(-)	`CCCAGG/AGAAGG`	6	--	int¹ trp³		4		EA NA	142

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HapMap Linkage Disequilibrium images for HMGA1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 600701

UniProtKB/Swiss-Prot: HMGA1_HUMAN, P17096

A chromosomal aberration involving HMGA1 is found in pulmonary chondroid hamartoma.

Translocation t(6;14)(p21;q23-24) with RAD51L1

10/35 Novoseek disease relationships for HMGA1 gene (see all 35 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
neoplastic transformation	76.42	21	11134344 (3), 10945639 (2), 15350136 (1), 19074878 (1) (see all 13)
lipoma	64.10	20	9212729 (4), 10744071 (3), 12970064 (2), 9187132 (2) (see all 8)
uterine leiomyoma	55.04	7	9989879 (2), 10472377 (1), 9824199 (1), 10744071 (1)
hamartoma	51.62	9	9060828 (3), 10744071 (3), 9824199 (1)
benign tumor	50.90	5	10347561 (1), 11672774 (1), 10744071 (1), 9495195 (1) (see all 5)
tumors	43.11	89	11134344 (4), 10472377 (3), 14714251 (3), 8221692 (3) (see all 48)
ganglioneuroma	41.06	1	15650238 (1)
thyroid carcinoma	37.54	6	19060921 (1), 7731681 (1), 16510570 (1)
myxoma	34.90	1	11550285 (1)
chromosomal aberrations	34.43	7	11494149 (1), 11672774 (1), 18651940 (1), 11212080 (1)

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Human Gene Mutation Database: HMGA1
Human Genome Epidemiology Navigator: HMGA1 (1 document)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/288 PubMed articles for HMGA1 gene (see all 288 ):

Organization, inducible-expression and chromosome localization of the human HMG-I(Y) nonhistone protein gene. (PubMed id 8414980)^{1, 2, 3, 4} Friedmann M.... Reeves R. (1993)
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, 3, 4} Zou Y. and Wang Y. (2005)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{3, 4} Olsen J.V....Mann M. (2006)
Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)^{3, 4} Beausoleil S.A....Gygi S.P. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
During apoptosis of tumor cells HMGA1a protein undergoes methylation: identification of the modification site by mass spectrometry. (PubMed id 12653562)^{3, 4} Sgarra R.... Giancotti V. (2003)
HMGI/Y proteins: flexible regulators of transcription and chromatin structure. (PubMed id 11406267)^{2, 3} Reeves R. and Beckerbauer L. (2001)
Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma. (PubMed id 11978964)^{3, 4} Blank C.... Bullerdiek J. (2001)
Retinoid-dependent recruitment of a histone H1 displacement activity by retinoic acid receptor. (PubMed id 10428834)^{3, 4} Nagpal S....Chandraratna R.A.S. (1999)
The solution structure of an HMG-I(Y)-DNA complex defines a new architectural minor groove binding motif. (PubMed id 9253416)^{3, 4} Huth J.R.... Clore G.M. (1997)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, 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)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for HMGA1	Genetics and Cytogenetics in Oncology and Haematology

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HMGA1 Gene

protein-coding GIFtS: 60

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HMGA1 Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor HMGA1

Summariesfor HMGA1

Genomic Locationfor HMGA1

Proteinsfor HMGA1

Protein Domains/Familiesfor HMGA1

Gene Functionfor HMGA1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HMGA1

Summaries
for HMGA1

Genomic Location
for HMGA1

Proteins
for HMGA1

Protein Domains/
Families
for HMGA1

Gene Function
for HMGA1

Pathways & Interactions
for HMGA1

Drugs & Compounds
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Expression
for HMGA1

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