• Gene id: 8820

Gene Summary

• Gene Symbol: HESX1   Gene   UCSC   Ensembl
• Aliases: ANF, CPHD5, RPX
• Gene name: HESX homeobox 1
• Alternate names: homeobox expressed in ES cells 1, Rathke pouch homeobox, homeobox protein ANF,
• Gene location: 3p14.3 (57227642: 57197837)     Exons: 7     NC_000003.12
• Gene summary(Entrez): This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pitu
• OMIM: 120520

Protein Summary

• Protein general information: Q9UBX0  
  • Name: Homeobox expressed in ES cells 1 (Homeobox protein ANF) (hAnf)
  • Length: 185  
  • Mass: 21409
• Sequence:

  MSPSLQEGAQLGENKPSTCSFSIERILGLDQKKDCVPLMKPHRPWADTCSSSGKDGNLCLHVPNPPSGISFPSVV
  DHPMPEERASKYENYFSASERLSLKRELSWYRGRRPRTAFTQNQIEVLENVFRVNCYPGIDIREDLAQKLNLEED
  RIQIWFQNRRAKLKRSHRESQFLMAKKNFNTNLLE

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • PDB: 2K40
  • PDBsum: 2K40
  • STRING: ENSP00000295934
• Other Databases: GeneCards:  HESX1  Malacards:  HESX1

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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0021983	pituitary gland development	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0021983	pituitary gland development	IMP	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0007420	brain development	TAS	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:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0043584	nose development	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007420	brain development	IEA	biological process
GO:0030916	otic vesicle formation	IEA	biological process
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0048853	forebrain morphogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Growth hormone deficiency	KEGG:H00254
Combined pituitary hormone deficiency	KEGG:H02036
Septo-optic dysplasia	KEGG:H00544
Growth hormone deficiency	KEGG:H00254
Combined pituitary hormone deficiency	KEGG:H02036
Septo-optic dysplasia	KEGG:H00544
Septooptic dysplasia	PMID:9620767
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881