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Q9UBX0

- HESX1_HUMAN

UniProt

Q9UBX0 - HESX1_HUMAN

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Protein

Homeobox expressed in ES cells 1

Gene

HESX1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi108 – 16760HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. chromatin binding Source: Ensembl
  2. DNA binding Source: ProtInc
  3. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. brain development Source: ProtInc
  2. forebrain morphogenesis Source: Ensembl
  3. negative regulation of transcription, DNA-templated Source: Ensembl
  4. nose development Source: Ensembl
  5. otic vesicle formation Source: Ensembl
  6. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:4877. HESX1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti160 – 1601R → C in SOD; loss of DNA-binding. 1 Publication
Corresponds to variant rs28936702 [ dbSNP | Ensembl ].
VAR_010225
Natural varianti170 – 1701S → L in SOD; mild. 1 Publication
VAR_063233
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti149 – 1491E → K in GHDPA; unable to repress PROP1-mediated activation. 1 Publication
VAR_063232
Natural varianti181 – 1811T → A in GHDPA. 1 Publication
VAR_063234
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61Q → H in CPHD5. 1 Publication
VAR_063230
Natural varianti26 – 261I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 Publication
VAR_063231

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

MIMi182230. phenotype.
262600. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 185185Homeobox expressed in ES cells 1PRO_0000048922Add
BLAST

Proteomic databases

PaxDbiQ9UBX0.
PRIDEiQ9UBX0.

Expressioni

Developmental stagei

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

Gene expression databases

BgeeiQ9UBX0.
CleanExiHS_HESX1.
ExpressionAtlasiQ9UBX0. baseline and differential.
GenevestigatoriQ9UBX0.

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. 5 interactions.
IntActiQ9UBX0. 2 interactions.
MINTiMINT-8417673.
STRINGi9606.ENSP00000295934.

Structurei

Secondary structure

1
185
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi117 – 12711Combined sources
Helixi135 – 14511Combined sources
Helixi149 – 16416Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2K40NMR-A108-174[»]
ProteinModelPortaliQ9UBX0.
SMRiQ9UBX0. Positions 108-174.
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

eggNOGiNOG326168.
GeneTreeiENSGT00760000118908.
HOGENOMiHOG000112889.
HOVERGENiHBG004226.
InParanoidiQ9UBX0.
KOiK09354.
OMAiHPMPEER.
OrthoDBiEOG7WMCMW.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61Q → H in CPHD5. 1 Publication
VAR_063230
Natural varianti26 – 261I → T in CPHD5; the mutated protein is associated with impaired transcriptional repression but not DNA binding. 1 Publication
VAR_063231
Natural varianti125 – 1251N → S.1 Publication
Corresponds to variant rs9878928 [ dbSNP | Ensembl ].
VAR_010400
Natural varianti149 – 1491E → K in GHDPA; unable to repress PROP1-mediated activation. 1 Publication
VAR_063232
Natural varianti160 – 1601R → C in SOD; loss of DNA-binding. 1 Publication
Corresponds to variant rs28936702 [ dbSNP | Ensembl ].
VAR_010225
Natural varianti170 – 1701S → L in SOD; mild. 1 Publication
VAR_063233
Natural varianti181 – 1811T → A in GHDPA. 1 Publication
VAR_063234

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_005265526.2.
XP_006713442.1. XM_006713379.1.
UniGeneiHs.171980.

Genome annotation databases

EnsembliENST00000295934; ENSP00000295934; ENSG00000163666.
GeneIDi8820.
KEGGihsa:8820.
UCSCiuc003din.4. human.

Polymorphism databases

DMDMi12230168.

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 .
CCDSi CCDS2881.1.
RefSeqi NP_003856.1. NM_003865.2.
XP_005265583.1. XM_005265526.2.
XP_006713442.1. XM_006713379.1.
UniGenei Hs.171980.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2K40 NMR - A 108-174 [» ]
ProteinModelPortali Q9UBX0.
SMRi Q9UBX0. Positions 108-174.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114347. 5 interactions.
IntActi Q9UBX0. 2 interactions.
MINTi MINT-8417673.
STRINGi 9606.ENSP00000295934.

Polymorphism databases

DMDMi 12230168.

Proteomic databases

PaxDbi Q9UBX0.
PRIDEi Q9UBX0.

Protocols and materials databases

DNASUi 8820.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000295934 ; ENSP00000295934 ; ENSG00000163666 .
GeneIDi 8820.
KEGGi hsa:8820.
UCSCi uc003din.4. human.

Organism-specific databases

CTDi 8820.
GeneCardsi GC03M057207.
HGNCi HGNC:4877. HESX1.
HPAi HPA024187.
MIMi 182230. phenotype.
262600. phenotype.
601802. gene.
neXtProti NX_Q9UBX0.
Orphaneti 95494. 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.
PharmGKBi PA29255.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326168.
GeneTreei ENSGT00760000118908.
HOGENOMi HOG000112889.
HOVERGENi HBG004226.
InParanoidi Q9UBX0.
KOi K09354.
OMAi HPMPEER.
OrthoDBi EOG7WMCMW.
PhylomeDBi Q9UBX0.
TreeFami TF335506.

Miscellaneous databases

ChiTaRSi HESX1. human.
EvolutionaryTracei Q9UBX0.
GeneWikii HESX1.
GenomeRNAii 8820.
NextBioi 33086.
PROi Q9UBX0.
SOURCEi Search...

Gene expression databases

Bgeei Q9UBX0.
CleanExi HS_HESX1.
ExpressionAtlasi Q9UBX0. baseline and differential.
Genevestigatori Q9UBX0.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SOD CYS-160, VARIANT SER-125.
    Tissue: Fibrosarcoma.
  2. "Anf: a novel class of vertebrate homeobox genes expressed at the anterior end of the main embryonic axis."
    Kazanskaya O.V., Severtzova E.A., Barth K.A., Ermakova G.V., Lukyanov S.A., Benyumov A.O., Pannese M., Boncinelli E., Wilson S.W., Zaraisky A.G.
    Gene 200:25-34(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Teratocarcinoma.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis."
    Dasen J.S., Martinez-Barbera J.-P., Herman T.S., O'Connell S., Olson L., Ju B., Tollkuhn J., Baek S.H., Rose D.W., Rosenfeld M.G.
    Genes Dev. 15:3193-3207(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TLE1.
  5. "Role of conserved salt bridges in homeodomain stability and DNA binding."
    Torrado M., Revuelta J., Gonzalez C., Corzana F., Bastida A., Asensio J.L.
    J. Biol. Chem. 284:23765-23779(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 108-174, DNA-BINDING.
  6. "Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia."
    Thomas P.Q., Dattani M.T., Brickman J.M., McNay D., Warne G., Zacharin M., Cameron F., Hurst J., Woods K., Dunger D., Stanhope R., Forrest S., Robinson I.C., Beddington R.S.
    Hum. Mol. Genet. 10:39-45(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SOD LEU-170, VARIANT GHDPA ALA-181, VARIANT CPHD5 HIS-6.
  7. "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction."
    Carvalho L.R., Woods K.S., Mendonca B.B., Marcal N., Zamparini A.L., Stifani S., Brickman J.M., Arnhold I.J., Dattani M.T.
    J. Clin. Invest. 112:1192-1201(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CPHD5 THR-26, CHARACTERIZATION OF VARIANT CPHD5 THR-26.
  8. Cited for: VARIANT GHDPA LYS-149, CHARACTERIZATION OF VARIANT GHDPA LYS-149.

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: October 29, 2014
This is version 130 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

External Data

Dasty 3