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ESX1 ESX homeobox 1 [ Homo sapiens (human) ]

Gene ID: 80712, updated on 11-Jun-2021

Summary

Official Symbol
ESX1provided by HGNC
Official Full Name
ESX homeobox 1provided by HGNC
Primary source
HGNC:HGNC:14865
See related
Ensembl:ENSG00000123576 MIM:300154
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
ESX1L; ESXR1
Summary
This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]
Expression
Restricted expression toward testis (RPKM 5.2) See more
Orthologs
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Genomic context

See ESX1 in Genome Data Viewer
Location:
Xq22.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (104250038..104254933, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (103494719..103499614, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 53 Neighboring gene uncharacterized LOC286437 Neighboring gene family with sequence similarity 199, X-linked Neighboring gene interleukin 1 receptor accessory protein like 2 Neighboring gene prohibitin pseudogene 10 Neighboring gene ribosomal protein L18a pseudogene 14

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
homeobox protein ESX1
Names
ESX1-related protein
extraembryonic, spermatogenesis, homeobox 1 homolog

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_016393.1 RefSeqGene

    Range
    4986..9881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_153448.4NP_703149.1  homeobox protein ESX1

    See identical proteins and their annotated locations for NP_703149.1

    Status: REVIEWED

    Source sequence(s)
    AK097704, AL049631, BC053599
    Consensus CDS
    CCDS14516.1
    UniProtKB/Swiss-Prot
    Q8N693
    Related
    ENSP00000361669.4, ENST00000372588.4
    Conserved Domains (1) summary
    pfam00046
    Location:142195
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    104250038..104254933 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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