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HESX1 HESX homeobox 1 [ Homo sapiens (human) ]

Gene ID: 8820, updated on 12-Aug-2018

Summary

Official Symbol
HESX1provided by HGNC
Official Full Name
HESX homeobox 1provided by HGNC
Primary source
HGNC:HGNC:4877
See related
Ensembl:ENSG00000163666 MIM:601802; Vega:OTTHUMG00000158597
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

Genomic context

See HESX1 in Genome Data Viewer
Location:
3p14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (57197838..57227643, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (57231866..57261656, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene interleukin 17 receptor D Neighboring gene uncharacterized LOC105377101 Neighboring gene ribosomal protein L19 pseudogene 2 Neighboring gene uncharacterized LOC105377102 Neighboring gene adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Neighboring gene ankyrin repeat and SOCS box containing 14 Neighboring gene dynein axonemal heavy chain 12 Neighboring gene RNA, U6 small nuclear 1181, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Ectoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Ectoderm Differentiation, organism-specific biosystemModel depicting ectoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138294

Gene Ontology Provided by GOA

Process Evidence Code Pubs
brain development TAS
Traceable Author Statement
more info
PubMed 
forebrain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
nose development IEA
Inferred from Electronic Annotation
more info
 
otic vesicle formation IEA
Inferred from Electronic Annotation
more info
 
pituitary gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_008242.1 RefSeqGene

    Range
    5001..7337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003865.2NP_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
    Q9UBX0
    UniProtKB/TrEMBL
    A0A024R364
    Related
    ENSP00000295934.3, OTTHUMP00000213130, ENST00000295934.7, OTTHUMT00000351430
    Conserved Domains (1) summary
    pfam00046
    Location:111164
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    57197838..57227643 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265526.4XP_005265583.1  homeobox expressed in ES cells 1 isoform X1

    See identical proteins and their annotated locations for XP_005265583.1

    UniProtKB/Swiss-Prot
    Q9UBX0
    UniProtKB/TrEMBL
    A0A024R364
    Conserved Domains (1) summary
    pfam00046
    Location:111164
    Homeobox; Homeobox domain
  2. XM_017007421.1XP_016862910.1  homeobox expressed in ES cells 1 isoform X1

    UniProtKB/Swiss-Prot
    Q9UBX0
    UniProtKB/TrEMBL
    A0A024R364
    Conserved Domains (1) summary
    pfam00046
    Location:111164
    Homeobox; Homeobox domain
  3. XM_011534204.2XP_011532506.1  homeobox expressed in ES cells 1 isoform X1

    See identical proteins and their annotated locations for XP_011532506.1

    UniProtKB/Swiss-Prot
    Q9UBX0
    UniProtKB/TrEMBL
    A0A024R364
    Conserved Domains (1) summary
    pfam00046
    Location:111164
    Homeobox; Homeobox domain
  4. XM_011534205.2XP_011532507.1  homeobox expressed in ES cells 1 isoform X1

    See identical proteins and their annotated locations for XP_011532507.1

    UniProtKB/Swiss-Prot
    Q9UBX0
    UniProtKB/TrEMBL
    A0A024R364
    Conserved Domains (1) summary
    pfam00046
    Location:111164
    Homeobox; Homeobox domain
  5. XM_024453809.1XP_024309577.1  homeobox expressed in ES cells 1 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:111164
    Homeobox; Homeobox domain
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