InnateDB Protein
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IDBP-41068.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HESX1
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Protein Name
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HESX homeobox 1
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Synonyms
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ANF; CPHD5; RPX;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000295934
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InnateDB Gene
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IDBG-41066 (HESX1)
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Protein Structure
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Function |
Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation (By similarity). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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Disease Associations |
Septooptic dysplasia (SOD) [MIM:182230]: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. {ECO:0000269PubMed:11136712, ECO:0000269PubMed:9620767}. Note=The disease is caused by mutations affecting the gene represented in this entry.Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. {ECO:0000269PubMed:11136712, ECO:0000269PubMed:17148560}. Note=The disease is caused by mutations affecting the gene represented in this entry.Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid- stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269PubMed:11136712, ECO:0000269PubMed:14561704}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
8
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001356
Homeobox domain
IPR009057
Homeodomain-like
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PFAM |
PF00046
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PRINTS |
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PIRSF |
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SMART |
SM00389
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UBX0
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PhosphoSite |
PhosphoSite-Q9UBX0
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TrEMBL |
J3KR67
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UniProt Splice Variant |
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Entrez Gene |
8820
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UniGene |
Hs.171980
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RefSeq |
NP_003856
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HUGO |
HGNC:4877
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OMIM |
601802
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CCDS |
CCDS2881
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HPRD |
03482
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IMGT |
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EMBL |
AC093928
AF059734
BC069515
BC093979
BC112089
CH471055
U65437
U82811
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GenPept |
AAB39561
AAB88275
AAC24523
AAH69515
AAH93979
AAI12090
EAW65333
EAW65334
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