Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Homeobox expressed in ES cells 1

Gene

HESX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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 similarity1 Publication

Regions

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

GO - Molecular functioni

GO - Biological processi

  • brain development Source: ProtInc
  • forebrain morphogenesis Source: Ensembl
  • nose development Source: Ensembl
  • otic vesicle formation Source: Ensembl
  • pituitary gland development Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

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

EuPathDBiHostDB:ENSG00000163666.8
HGNCiHGNC:4877 HESX1
MIMi601802 gene
neXtProtiNX_Q9UBX0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs28936702Ensembl.1
Natural variantiVAR_063233170S → L in SOD; mild. 1 PublicationCorresponds to variant dbSNP:rs28936703Ensembl.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 dbSNP:rs104893742Ensembl.1
Natural variantiVAR_063234181T → A in GHDPA. 1 PublicationCorresponds to variant dbSNP:rs28936704Ensembl.1
Pituitary hormone deficiency, combined, 5 (CPHD5)3 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 dbSNP:rs121909173Ensembl.1
Natural variantiVAR_06323126I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 PublicationCorresponds to variant dbSNP:rs28936416Ensembl.1
Natural variantiVAR_078488109R → Q in CPHD5; unknown pathological significance; loss of DNA binding ability; unable to repress PROP1-mediated activation; no effect on nuclear location; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs768165720Ensembl.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

PaxDbiQ9UBX0
PeptideAtlasiQ9UBX0
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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114347, 7 interactors
CORUMiQ9UBX0
IntActiQ9UBX0, 8 interactors
MINTiQ9UBX0
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

Keywords - Domaini

Homeobox

Phylogenomic databases

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

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

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 dbSNP:rs121909173Ensembl.1
Natural variantiVAR_06323126I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 PublicationCorresponds to variant dbSNP:rs28936416Ensembl.1
Natural variantiVAR_078488109R → Q in CPHD5; unknown pathological significance; loss of DNA binding ability; unable to repress PROP1-mediated activation; no effect on nuclear location; no effect on protein abundance. 1 PublicationCorresponds to variant dbSNP:rs768165720Ensembl.1
Natural variantiVAR_010400125N → S1 PublicationCorresponds to variant dbSNP:rs9878928Ensembl.1
Natural variantiVAR_063232149E → K in GHDPA; unable to repress PROP1-mediated activation. 1 PublicationCorresponds to variant dbSNP:rs104893742Ensembl.1
Natural variantiVAR_010225160R → C in SOD; loss of DNA-binding. 1 PublicationCorresponds to variant dbSNP:rs28936702Ensembl.1
Natural variantiVAR_063233170S → L in SOD; mild. 1 PublicationCorresponds to variant dbSNP:rs28936703Ensembl.1
Natural variantiVAR_063234181T → A in GHDPA. 1 PublicationCorresponds to variant dbSNP:rs28936704Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiHESX1_HUMAN
AccessioniPrimary (citable) accession number: Q9UBX0
Secondary accession number(s): Q52LC5, Q99667
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: March 28, 2018
This is version 159 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health