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HESX1 HESX homeobox 1 [ Homo sapiens (human) ]

Gene ID: 8820, updated on 2-Nov-2024

Summary

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Official Symbol
HESX1provided by HGNC
Official Full Name
HESX homeobox 1provided by HGNC
Primary source
HGNC:HGNC:4877
See related
Ensembl:ENSG00000163666 MIM:601802; AllianceGenome:HGNC:4877
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ANF; RPX; CPHD5
Summary
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]
Expression
Broad expression in testis (RPKM 1.6), skin (RPKM 0.6) and 24 other tissues See more
Orthologs
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Genomic context

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See HESX1 in Genome Data Viewer
Location:
3p14.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (57197838..57227615, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (57238106..57267938, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57231866..57261643, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor D Neighboring gene uncharacterized LOC105377101 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57192947-57193632 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:57193633-57194316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14479 Neighboring gene ribosomal protein L19 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:57218732-57218927 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:57233699-57234296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19986 Neighboring gene uncharacterized LOC105377102 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Neighboring gene MPRA-validated peak4664 silencer Neighboring gene uncharacterized LOC124909384 Neighboring gene ankyrin repeat and SOCS box containing 14 Neighboring gene dynein axonemal heavy chain 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Evidence for possible Mendelian inheritance of septo-optic dysplasia. Wales JK, et al. Acta Paediatr, 1996 Mar. PMID 8696006
  2. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Thomas PQ, et al. Hum Mol Genet, 2001 Jan 1. PMID 11136712
  3. A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing. Vivenza D, et al. Eur J Endocrinol, 2011 May. PMID 21325470
  4. Role of conserved salt bridges in homeodomain stability and DNA binding. Torrado M, et al. J Biol Chem, 2009 Aug 28. PMID 19561080, Free PMC Article
  5. HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. Fang Q, et al. Clin Endocrinol (Oxf), 2016 Sep. PMID 27000987, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
    Title: Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.
  2. Study did not identify HESX1 and LHX3 mutations by Sanger in brazilian patients with combined pituitary hormone deficiency
    Title: Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
  3. HESX1 mutations cause variable clinical features in congenital hypopituitarism patients, which suggests an influence of modifier genes or environmental factors on the phenotype
    Title: HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
  4. A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency
    Title: Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
  5. investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey
    Title: Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
  6. Data indicate that HESX1, LHX4 and SOX3 polymorphisms may be associated with pituitary stalk interruption syndrome (PSIS).
    Title: Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
  7. expand the phenotypic spectrum of HESX1 mutations in Kallman syndrome.
    Title: Identification of HESX1 mutations in Kallmann syndrome.
  8. Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150.
    Title: CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas.
  9. A c.357+3G>A mutation prevents the generation of one of the alternative isoforms normally produced by the wild-type allele, predicting a truncated HESX1 protein.
    Title: A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
  10. A novel HESX1 causative mutation was found in a consanguineous family, and two LHX4 mutations were present in familial Pituitary stalk interruption syndrome.
    Title: Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Anophthalmia-microphthalmia syndrome
MedGen: C5680330 GeneReviews: Not available
Compare labs
Septo-optic dysplasia sequence
MedGen: C0338503 OMIM: 182230 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC138294

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development TAS
Traceable Author Statement
more info
 PubMed 
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
  
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to cadmium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in forebrain morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in gonad development IEA
Inferred from Electronic Annotation
more info
  
involved_in leukemia inhibitory factor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nose development IEA
Inferred from Electronic Annotation
more info
  
involved_in otic vesicle formation IEA
Inferred from Electronic Annotation
more info
  
involved_in pituitary gland development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in pituitary gland development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of embryonic development IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in stem cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in thyroid gland development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
homeobox expressed in ES cells 1
Names
Rathke pouch homeobox
Rathke's pouch homeobox
homeobox protein ANF

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008242.2 RefSeqGene

    Range
    32637..34777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001376058.1 → NP_001362987.1  homeobox expressed in ES cells 1

    Status: REVIEWED

    Source sequence(s)
    AC093928
    Consensus CDS
    CCDS2881.1
    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
    UniProtKB/TrEMBL
    C9J0A9
    Related
    ENSP00000498190.1, ENST00000647958.1
    Conserved Domains (1) summary
    pfam00046
    Location:111 → 165
    Homeobox; Homeobox domain

  2. NM_001376059.1 → NP_001362988.1  homeobox expressed in ES cells 1

    Status: REVIEWED

    Source sequence(s)
    AC093928
    Consensus CDS
    CCDS2881.1
    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
    UniProtKB/TrEMBL
    C9J0A9
    Conserved Domains (1) summary
    pfam00046
    Location:111 → 165
    Homeobox; Homeobox domain

  3. NM_001376060.1 → NP_001362989.1  homeobox expressed in ES cells 1

    Status: REVIEWED

    Source sequence(s)
    AC093928
    Consensus CDS
    CCDS2881.1
    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
    UniProtKB/TrEMBL
    C9J0A9
    Conserved Domains (1) summary
    pfam00046
    Location:111 → 165
    Homeobox; Homeobox domain

  4. NM_001376061.1 → NP_001362990.1  homeobox expressed in ES cells 1

    Status: REVIEWED

    Source sequence(s)
    AC093928
    Consensus CDS
    CCDS2881.1
    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
    UniProtKB/TrEMBL
    C9J0A9
    Conserved Domains (1) summary
    pfam00046
    Location:111 → 165
    Homeobox; Homeobox domain

  5. NM_003865.3 → NP_003856.1  homeobox expressed in ES cells 1

    See identical proteins and their annotated locations for NP_003856.1

    Status: REVIEWED

    Source sequence(s)
    AC093928, AI652412, BC112089
    Consensus CDS
    CCDS2881.1
    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
    UniProtKB/TrEMBL
    C9J0A9
    Related
    ENSP00000295934.3, ENST00000295934.8
    Conserved Domains (1) summary
    pfam00046
    Location:111 → 165
    Homeobox; Homeobox domain

RNA

  1. NR_164757.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC093928

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    57197838..57227615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449143.1 → XP_047305099.1  homeobox expressed in ES cells 1 isoform X1

    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0

  2. XM_005265526.5 → XP_005265583.1  homeobox expressed in ES cells 1 isoform X1

    See identical proteins and their annotated locations for XP_005265583.1

    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
    UniProtKB/TrEMBL
    C9J0A9
    Conserved Domains (1) summary
    pfam00046
    Location:111 → 165
    Homeobox; Homeobox domain

  3. XM_047449142.1 → XP_047305098.1  homeobox expressed in ES cells 1 isoform X1

    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    57238106..57267938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348269.1 → XP_054204244.1  homeobox expressed in ES cells 1 isoform X1

    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0

  2. XM_054348270.1 → XP_054204245.1  homeobox expressed in ES cells 1 isoform X1

    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0

  3. XM_054348271.1 → XP_054204246.1  homeobox expressed in ES cells 1 isoform X1

    UniProtKB/Swiss-Prot
    Q52LC5, Q99667, Q9UBX0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBX0.1 GenPept UniProtKB/Swiss-Prot:Q9UBX0

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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