Homo sapiens Gene: HESX1
Summary
InnateDB Gene IDBG-41066.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HESX1
Gene Name HESX homeobox 1
Synonyms ANF; CPHD5; RPX;
Species Homo sapiens
Ensembl Gene ENSG00000163666
Encoded Proteins
HESX homeobox 1
HESX homeobox 1
HESX homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:57197843-57226521
Strand Reverse strand
Band p14.3
Transcripts
ENST00000295934 ENSP00000295934
ENST00000495160 ENSP00000419615
ENST00000473921 ENSP00000418918
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 8 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 5 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0043565 sequence-specific DNA binding
GO:0047485 protein N-terminus binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007420 brain development
GO:0030916 otic vesicle formation
GO:0043584 nose development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048853 forebrain morphogenesis
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9UBX0
TrEMBL A0A024R364 J3KR67
UniProt Splice Variant
Entrez Gene 8820
UniGene Hs.171980
RefSeq NM_003865 XM_005265526 XM_006713379
HUGO HGNC:4877
OMIM 601802
CCDS CCDS2881
HPRD 03482
IMGT
EMBL AC093928 AF059734 BC069515 BC093979 BC112089 CH471055 U65437 U82811
GenPept AAB39561 AAB88275 AAC24523 AAH69515 AAH93979 AAI12090 EAW65333 EAW65334
RNA Seq Atlas 8820