Endometriosis Knowledgebase

Search Result

Gene id

3159

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HMGA1 Gene UCSC Ensembl

Aliases

HMG-R, HMGA1A, HMGIY

Gene name

high mobility group AT-hook 1

Alternate names

high mobility group protein HMG-I/HMG-Y, high mobility group protein A1, high mobility group protein R, high-mobility group (nonhistone chromosomal) protein isoforms I and Y, nonhistone chromosomal high-mobility group protein HMG-I/HMG-Y,

Gene location

6p21.31 (34236799: 34246230) Exons: 7 NC_000006.12

Gene summary(Entrez)

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]

OMIM

600701

Protein Summary

Protein general information

P17096

Name: High mobility group protein HMG I/HMG Y (HMG I(Y)) (High mobility group AT hook protein 1) (High mobility group protein A1) (High mobility group protein R)

Length: 107 Mass: 11,676

Sequence

MSESSSKSSQPLASKQEKDGTEKRGRGRPRKQPPVSPGTALVGSQKEPSEVPTPKRPRGRPKGSKNKGAAKTRKT
TTTPGRKPRGRPKKLEKEEEEGISQESSEEEQ

Structural information

Interpro:	IPR017956 IPR000116 IPR031079 IPR000637
Prosite:	PS00354
PDB:	2EZD 2EZE 2EZF 2EZG
PDBsum:	2EZD 2EZE 2EZF 2EZG
DIP:	29687
MINT:	262941
STRING:	ENSP00000308227;

Other Databases

GeneCards: HMGA1; Malacards: HMGA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	ISS	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003680	AT DNA binding	ISS	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003682	chromatin binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IBA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006268	DNA unwinding involved in DNA replication	NAS	biological_process
GO:0006284	base-excision repair	IDA	biological_process
GO:0006284	base-excision repair	IDA	biological_process
GO:0006337	nucleosome disassembly	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006461	protein complex assembly	TAS	biological_process
GO:0008134	transcription factor bind ing	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IMP	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030374	ligand-dependent nuclear receptor transcription co activator activity	IMP	molecular_function
GO:0031936	negative regulation of ch romatin silencing	TAS	biological_process
GO:0035985	senescence-associated het erochromatin focus	IDA	cellular_component
GO:0035986	senescence-associated het erochromatin focus assemb ly	IDA	biological_process
GO:0042974	retinoic acid receptor bi nding	IDA	molecular_function
GO:0042975	peroxisome proliferator a ctivated receptor binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0046965	retinoid X receptor bindi ng	IDA	molecular_function
GO:0051169	nuclear transport	TAS	biological_process
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0090402	oncogene-induced cell sen escence	IDA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:2000774	positive regulation of ce llular senescence	IMP	biological_process
GO:0000785	chromatin	IEA	cellular_component
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	ISS	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003680	AT DNA binding	ISS	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003682	chromatin binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IBA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	TAS	cellular_component
GO:0005694	chromosome	IEA	cellular_component
GO:0005694	chromosome	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006268	DNA unwinding involved in DNA replication	NAS	biological_process
GO:0006284	base-excision repair	IDA	biological_process
GO:0006284	base-excision repair	IDA	biological_process
GO:0006337	nucleosome disassembly	TAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006461	protein complex assembly	TAS	biological_process
GO:0008134	transcription factor bind ing	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IMP	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0016032	viral process	IEA	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030374	ligand-dependent nuclear receptor transcription co activator activity	IMP	molecular_function
GO:0031936	negative regulation of ch romatin silencing	TAS	biological_process
GO:0035985	senescence-associated het erochromatin focus	IDA	cellular_component
GO:0035986	senescence-associated het erochromatin focus assemb ly	IDA	biological_process
GO:0042974	retinoic acid receptor bi nding	IDA	molecular_function
GO:0042975	peroxisome proliferator a ctivated receptor binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0046965	retinoid X receptor bindi ng	IDA	molecular_function
GO:0051169	nuclear transport	TAS	biological_process
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0090402	oncogene-induced cell sen escence	IDA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:2000774	positive regulation of ce llular senescence	IMP	biological_process
GO:0001205	transcriptional activator activity, RNA polymerase II distal enhancer seque nce-specific binding	ISS	molecular_function
GO:0003677	DNA binding	TAS	molecular_function
GO:0003680	AT DNA binding	ISS	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003682	chromatin binding	ISS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IBA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006268	DNA unwinding involved in DNA replication	NAS	biological_process
GO:0006284	base-excision repair	IDA	biological_process
GO:0006284	base-excision repair	IDA	biological_process
GO:0006337	nucleosome disassembly	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	TAS	biological_process
GO:0006461	protein complex assembly	TAS	biological_process
GO:0008134	transcription factor bind ing	IDA	molecular_function
GO:0008285	negative regulation of ce ll proliferation	IMP	biological_process
GO:0009615	response to virus	IEP	biological_process
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030374	ligand-dependent nuclear receptor transcription co activator activity	IMP	molecular_function
GO:0031936	negative regulation of ch romatin silencing	TAS	biological_process
GO:0035985	senescence-associated het erochromatin focus	IDA	cellular_component
GO:0035986	senescence-associated het erochromatin focus assemb ly	IDA	biological_process
GO:0042974	retinoic acid receptor bi nding	IDA	molecular_function
GO:0042975	peroxisome proliferator a ctivated receptor binding	IDA	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0046965	retinoid X receptor bindi ng	IDA	molecular_function
GO:0051169	nuclear transport	TAS	biological_process
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0075713	establishment of integrat ed proviral latency	TAS	biological_process
GO:0090402	oncogene-induced cell sen escence	IDA	biological_process
GO:0090575	RNA polymerase II transcr iption factor complex	ISS	cellular_component
GO:2000774	positive regulation of ce llular senescence	IMP	biological_process

Diseases

Associated diseases	References
Endometrial cancer	PMID: 27470368
Endometriosis	PMID: 22221703
Endometriosis	INFBASE22221703

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22221703	Endometrio sis	46,XX,t(5;12)(q13;q15)		3 cases of poly poid endometrio sis		HMGA	Show abstract
20461755	Endometrio sis			33 (16 cases of mass-forming e ndometriosis, 1 1 cases of usua l endometriosis , and six endom etriomas)			Show abstract