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Protein

Homeobox expressed in ES cells 1

Gene

HESX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi108 – 167HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • chromatin binding Source: Ensembl
  • DNA binding Source: ProtInc
  • sequence-specific DNA binding Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163666-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox expressed in ES cells 1
Alternative name(s):
Homeobox protein ANF
Short name:
hAnf
Gene namesi
Name:HESX1
Synonyms:HANF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:4877. HESX1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Septooptic dysplasia (SOD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:182230
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010225160R → C in SOD; loss of DNA-binding. 1 PublicationCorresponds to variant rs28936702dbSNPEnsembl.1
Natural variantiVAR_063233170S → L in SOD; mild. 1 PublicationCorresponds to variant rs28936703dbSNPEnsembl.1
Growth hormone deficiency with pituitary anomalies (GHDPA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:182230
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063232149E → K in GHDPA; unable to repress PROP1-mediated activation. 1 PublicationCorresponds to variant rs104893742dbSNPEnsembl.1
Natural variantiVAR_063234181T → A in GHDPA. 1 PublicationCorresponds to variant rs28936704dbSNPEnsembl.1
Pituitary hormone deficiency, combined, 5 (CPHD5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCombined 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.
See also OMIM:182230
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0632306Q → H in CPHD5. 1 PublicationCorresponds to variant rs121909173dbSNPEnsembl.1
Natural variantiVAR_06323126I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 PublicationCorresponds to variant rs28936416dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi8820.
MalaCardsiHESX1.
MIMi182230. phenotype.
262600. phenotype.
OpenTargetsiENSG00000163666.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
478. Kallmann syndrome.
95496. Pituitary stalk interruption syndrome.
3157. Septo-optic dysplasia.
PharmGKBiPA29255.

Polymorphism and mutation databases

BioMutaiHESX1.
DMDMi12230168.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000489221 – 185Homeobox expressed in ES cells 1Add BLAST185

Proteomic databases

EPDiQ9UBX0.
PaxDbiQ9UBX0.
PRIDEiQ9UBX0.

PTM databases

iPTMnetiQ9UBX0.
PhosphoSitePlusiQ9UBX0.

Expressioni

Developmental stagei

Strongly expressed in Rathke pouch in seven-week-old embryo.

Gene expression databases

BgeeiENSG00000163666.
CleanExiHS_HESX1.
ExpressionAtlasiQ9UBX0. baseline and differential.
GenevisibleiQ9UBX0. HS.

Organism-specific databases

HPAiHPA024187.

Interactioni

Subunit structurei

Can form heterodimers with PROP1 in binding to DNA (By similarity). Interacts with TLE1.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
KDM1AO603412EBI-8470369,EBI-710124
PRMT6Q96LA82EBI-8470369,EBI-912440

Protein-protein interaction databases

BioGridi114347. 7 interactors.
IntActiQ9UBX0. 3 interactors.
MINTiMINT-8417673.
STRINGi9606.ENSP00000295934.

Structurei

Secondary structure

1185
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi117 – 127Combined sources11
Helixi135 – 145Combined sources11
Helixi149 – 164Combined sources16

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K40NMR-A108-174[»]
ProteinModelPortaliQ9UBX0.
SMRiQ9UBX0.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UBX0.

Family & Domainsi

Sequence similaritiesi

Belongs to the ANF homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00860000133740.
HOGENOMiHOG000112889.
HOVERGENiHBG004226.
InParanoidiQ9UBX0.
KOiK09354.
OMAiKPSTCSF.
OrthoDBiEOG091G112W.
PhylomeDBiQ9UBX0.
TreeFamiTF335506.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UBX0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSPSLQEGAQ LGENKPSTCS FSIERILGLD QKKDCVPLMK PHRPWADTCS
60 70 80 90 100
SSGKDGNLCL HVPNPPSGIS FPSVVDHPMP EERASKYENY FSASERLSLK
110 120 130 140 150
RELSWYRGRR PRTAFTQNQI EVLENVFRVN CYPGIDIRED LAQKLNLEED
160 170 180
RIQIWFQNRR AKLKRSHRES QFLMAKKNFN TNLLE
Length:185
Mass (Da):21,409
Last modified:May 1, 2000 - v1
Checksum:i1F23D319EB4FDBF0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0632306Q → H in CPHD5. 1 PublicationCorresponds to variant rs121909173dbSNPEnsembl.1
Natural variantiVAR_06323126I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 PublicationCorresponds to variant rs28936416dbSNPEnsembl.1
Natural variantiVAR_010400125N → S.1 PublicationCorresponds to variant rs9878928dbSNPEnsembl.1
Natural variantiVAR_063232149E → K in GHDPA; unable to repress PROP1-mediated activation. 1 PublicationCorresponds to variant rs104893742dbSNPEnsembl.1
Natural variantiVAR_010225160R → C in SOD; loss of DNA-binding. 1 PublicationCorresponds to variant rs28936702dbSNPEnsembl.1
Natural variantiVAR_063233170S → L in SOD; mild. 1 PublicationCorresponds to variant rs28936703dbSNPEnsembl.1
Natural variantiVAR_063234181T → A in GHDPA. 1 PublicationCorresponds to variant rs28936704dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF059734 Genomic DNA. Translation: AAC24523.1.
U82811 mRNA. Translation: AAB88275.1.
U65437 Genomic DNA. Translation: AAB39561.1.
BC069515 mRNA. Translation: AAH69515.1.
BC093979 mRNA. Translation: AAH93979.1.
BC112089 mRNA. Translation: AAI12090.1.
CCDSiCCDS2881.1.
RefSeqiNP_003856.1. NM_003865.2.
XP_005265583.1. XM_005265526.4.
XP_006713442.1. XM_006713379.3.
XP_011532506.1. XM_011534204.2.
XP_011532507.1. XM_011534205.2.
XP_016862910.1. XM_017007421.1.
UniGeneiHs.171980.

Genome annotation databases

EnsembliENST00000295934; ENSP00000295934; ENSG00000163666.
GeneIDi8820.
KEGGihsa:8820.
UCSCiuc003din.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF059734 Genomic DNA. Translation: AAC24523.1.
U82811 mRNA. Translation: AAB88275.1.
U65437 Genomic DNA. Translation: AAB39561.1.
BC069515 mRNA. Translation: AAH69515.1.
BC093979 mRNA. Translation: AAH93979.1.
BC112089 mRNA. Translation: AAI12090.1.
CCDSiCCDS2881.1.
RefSeqiNP_003856.1. NM_003865.2.
XP_005265583.1. XM_005265526.4.
XP_006713442.1. XM_006713379.3.
XP_011532506.1. XM_011534204.2.
XP_011532507.1. XM_011534205.2.
XP_016862910.1. XM_017007421.1.
UniGeneiHs.171980.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K40NMR-A108-174[»]
ProteinModelPortaliQ9UBX0.
SMRiQ9UBX0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114347. 7 interactors.
IntActiQ9UBX0. 3 interactors.
MINTiMINT-8417673.
STRINGi9606.ENSP00000295934.

PTM databases

iPTMnetiQ9UBX0.
PhosphoSitePlusiQ9UBX0.

Polymorphism and mutation databases

BioMutaiHESX1.
DMDMi12230168.

Proteomic databases

EPDiQ9UBX0.
PaxDbiQ9UBX0.
PRIDEiQ9UBX0.

Protocols and materials databases

DNASUi8820.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295934; ENSP00000295934; ENSG00000163666.
GeneIDi8820.
KEGGihsa:8820.
UCSCiuc003din.5. human.

Organism-specific databases

CTDi8820.
DisGeNETi8820.
GeneCardsiHESX1.
HGNCiHGNC:4877. HESX1.
HPAiHPA024187.
MalaCardsiHESX1.
MIMi182230. phenotype.
262600. phenotype.
601802. gene.
neXtProtiNX_Q9UBX0.
OpenTargetsiENSG00000163666.
Orphaneti95494. Combined pituitary hormone deficiencies, genetic forms.
226307. Hypothyroidism due to deficient transcription factors involved in pituitary development or function.
478. Kallmann syndrome.
95496. Pituitary stalk interruption syndrome.
3157. Septo-optic dysplasia.
PharmGKBiPA29255.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490. Eukaryota.
ENOG410YIJ3. LUCA.
GeneTreeiENSGT00860000133740.
HOGENOMiHOG000112889.
HOVERGENiHBG004226.
InParanoidiQ9UBX0.
KOiK09354.
OMAiKPSTCSF.
OrthoDBiEOG091G112W.
PhylomeDBiQ9UBX0.
TreeFamiTF335506.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163666-MONOMER.

Miscellaneous databases

ChiTaRSiHESX1. human.
EvolutionaryTraceiQ9UBX0.
GeneWikiiHESX1.
GenomeRNAii8820.
PROiQ9UBX0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163666.
CleanExiHS_HESX1.
ExpressionAtlasiQ9UBX0. baseline and differential.
GenevisibleiQ9UBX0. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHESX1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBX0
Secondary accession number(s): Q52LC5, Q99667
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: November 30, 2016
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.