• Gene id: 2002

Gene Summary

• Gene Symbol: ELK1   Gene   UCSC   Ensembl
• Gene name: ETS transcription factor ELK1
• Alternate names: ETS domain-containing protein Elk-1, ELK1, ETS transcription factor, ELK1, member of ETS oncogene family, ETS-like gene 1, tyrosine kinase (ELK1) oncogene,
• Gene location: Xp11.23 (47650603: 47635519)     Exons: 7     NC_000023.11
• Gene summary(Entrez): This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the prom
• OMIM: 311040

Protein Summary

• Protein general information: P19419  
  • Name: ETS domain containing protein Elk 1
  • Length: 428  
  • Mass: 44888
  • Tissue specificity: Lung and testis.
• Sequence:

  MDPSVTLWQFLLQLLREQGNGHIISWTSRDGGEFKLVDAEEVARLWGLRKNKTNMNYDKLSRALRYYYDKNIIRK
  VSGQKFVYKFVSYPEVAGCSTEDCPPQPEVSVTSTMPNVAPAAIHAAPGDTVSGKPGTPKGAGMAGPGGLARSSR
  NEYMRSGLYSTFTIQSLQPQPPPHPRPAVVLPSAAPAGAAAPPSGSRSTSPSPLEACLEAEEAGLPLQVILTPPE
  APNLKSEELNVEPGLGRALPPEVKVEGPKEELEVAGERGFVPETTKAEPEVPPQEGVPARLPAVVMDTAGQAGGH
  AASSPEISQPQKGRKPRDLELPLSPSLLGGPGPERTPGSGSGSGLQAPGPALTPSLLPTHTLTPVLLTPSSLPPS
  IHFWSTLSPIAPRSPAKLSFQFPSSGSAQVHIPSISVDGLSTPVVLSPGPQKP

• Structural information:
  • Interpro: IPR000418  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061
  • PDB: 1DUX 5VVT
  • PDBsum: 1DUX 5VVT
  • DIP: 36057
  • STRING: ENSP00000483056
• Other Databases: GeneCards:  ELK1  Malacards:  ELK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0001085	RNA polymerase II transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071774	response to fibroblast growth factor	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071480	cellular response to gamma radiation	IEA	biological process
GO:0071394	cellular response to testosterone stimulus	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:0071774	response to fibroblast growth factor	IEA	biological process
GO:0071396	cellular response to lipid	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043679	axon terminus	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0009416	response to light stimulus	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005634	nucleus	IC	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa05225	Hepatocellular carcinoma
hsa04921	Oxytocin signaling pathway
hsa04910	Insulin signaling pathway
hsa05161	Hepatitis B
hsa04912	GnRH signaling pathway
hsa04012	ErbB signaling pathway
hsa05140	Leishmaniasis
hsa05213	Endometrial cancer
hsa05020	Prion diseases
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Alzheimer's disease	PMID:20126313
Lewy body dementia	PMID:20126313
Huntington's disease	PMID:20126313
Schizophrenia	PMID:10891039
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray