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Gene id

687

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KLF9 Gene UCSC Ensembl

Aliases

BTEB, BTEB1

Gene name

Kruppel like factor 9

Alternate names

Krueppel-like factor 9, BTE-binding protein 1, GC-box-binding protein 1, basic transcription element-binding protein 1, transcription factor BTEB1,

Gene location

9q21.12 (70414656: 70384596) Exons: 2 NC_000009.12

Gene summary(Entrez)

The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008]

OMIM

602902

SNPs

rs13394619

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp


NC_000002.11   g.11727507G>A
NC_000002.12   g.11587381G>A
NG_029429.1   g.58266G>A
NM_014668.3   c.1160-1365G>A
NM_033090.2   c.1160-1365G>A
NM_148903.2   c.1160-1G>A
XM_005246191.1   c.1160-1365G>A
XM_005246192.1   c.1160-1365G>A
XM_005246192.4   c.1160-1365G>A
XM_005246

Protein Summary

Protein general information

Q13886

Name: Krueppel like factor 9 (Basic transcription element binding protein 1) (BTE binding protein 1) (GC box binding protein 1) (Transcription factor BTEB1)

Length: 244 Mass: 27,235

Tissue specificity: Epidermis (at protein level). {ECO

Sequence

MSAAAYMDFVAAQCLVSISNRAAVPEHGVAPDAERLRLPEREVTKEHGDPGDTWKDYCTLVTIAKSLLDLNKYRP
IQTPSVCSDSLESPDEDMGSDSDVTTESGSSPSHSPEERQDPGSAPSPLSLLHPGVAAKGKHASEKRHKCPYSGC
GKVYGKSSHLKAHYRVHTGERPFPCTWPDCLKKFSRSDELTRHYRTHTGEKQFRCPLCEKRFMRSDHLTKHARRH
TEFHPSMIKRSKKALANAL

Structural information

Interpro:	IPR013087 IPR013083
Prosite:	PS00028 PS50157
STRING:	ENSP00000366330;

Other Databases

GeneCards: KLF9; Malacards: KLF9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0007623	circadian rhythm	IEP	biological_process
GO:0010839	negative regulation of ke ratinocyte proliferation	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0071387	cellular response to cort isol stimulus	IDA	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IDA	biological_process
GO:0003676	nucleic acid binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0007623	circadian rhythm	IEP	biological_process
GO:0010839	negative regulation of ke ratinocyte proliferation	IMP	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048511	rhythmic process	IEA	biological_process
GO:0071387	cellular response to cort isol stimulus	IDA	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IDA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005886	plasma membrane	IDA	cellular_component
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0007623	circadian rhythm	IEP	biological_process
GO:0010839	negative regulation of ke ratinocyte proliferation	IMP	biological_process
GO:0071387	cellular response to cort isol stimulus	IDA	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IDA	biological_process

Diseases

Associated diseases	References
Endometrial cancer	PMID: 23865345
Endometriosis	PMID: 21987111
Endometriosis	PMID: 22259059
Endometriosis	INFBASE21987111

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21987111	Endometrio sis			16 (8 with endo metriosis, 8 fe rtile controls)		HOXA11 LIF and BTEB1	Show abstract
22259059	Endometrio sis						Show abstract