HESX1
Sign in to saveAlso known as ANF, CPHD5, RPX, HESX homeobox 1
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.
Gene data
HESX1- Name
- HESX homeobox 1
- Type
- protein-coding
- Position
- 57,182,073–57,227,621 (−)
- Aliases
- ANF, CPHD5, RPX
- Ensembl
- ENSG00000163666
- RefSeq RNA
- NM_001376058.1, NM_001376059.1, NM_001376060.1, NM_001376061.1, NM_003865.3
- RefSeq protein
- NP_001362987.1, NP_001362988.1, NP_001362989.1, NP_001362990.1, NP_003856.1
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 Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
HESX homeobox 1
- Symbol
- HESX1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:57,182,073-57,227,621
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 20831
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/8820
- genomic end
- 57227606
- genomic start
- 57197838
- chromosome
- human chromosome 3
- cytogenetic location
- 3p14.3
- genetic association
- hypopituitarism
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Clinical significance
- References
- Further reading
- External links
Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.
Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.
Excerpted from Wikipedia’s “HESX1” article, available under the CC BY-SA 4.0 licence.