Esx1 MGI Mouse Gene Detail - MGI:1096388 - extraembryonic, spermatogenesis, homeobox 1

Symbol

Esx1
Name

extraembryonic, spermatogenesis, homeobox 1
Synonyms

Spx1

Feature Type

protein coding gene
IDs

MGI:1096388
NCBI Gene: 13984
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

ChrX:136016146-136022832 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 59.10 cM
Mapping Data

3 experiments

SNPs within 2kb

209 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1096388	protein coding gene	ChrX:136016146-136022880 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0036114	protein coding gene	ChrX:134544283-134552399 (-)
A/J	MGP_AJ_G0036093	protein coding gene	ChrX:133958498-133962412 (-)
AKR/J	MGP_AKRJ_G0036017	protein coding gene	ChrX:138227817-138239141 (-)
BALB/cJ	MGP_BALBcJ_G0036082	protein coding gene	ChrX:132356996-132366129 (-)
C3H/HeJ	MGP_C3HHeJ_G0035791	protein coding gene	ChrX:134626444-134633317 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036607	protein coding gene	ChrX:138493747-138502233 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033432	protein coding gene	ChrX:125865106-125871878 (-)
CAST/EiJ	MGP_CASTEiJ_G0035082	protein coding gene	ChrX:115382191-115389352 (-)
CBA/J	MGP_CBAJ_G0035768	protein coding gene	ChrX:142720736-142730907 (-)
DBA/2J	MGP_DBA2J_G0035925	protein coding gene	ChrX:133230317-133236293 (-)
FVB/NJ	MGP_FVBNJ_G0035859	protein coding gene	ChrX:132454962-132459378 (-)
LP/J	MGP_LPJ_G0036017	protein coding gene	ChrX:135544166-135551006 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035896	protein coding gene	ChrX:150035792-150042374 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036643	protein coding gene	ChrX:133907655-133913872 (-)
PWK/PhJ	MGP_PWKPhJ_G0034775	protein coding gene	ChrX:112392462-112400366 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034602	protein coding gene	ChrX:115973030-115984360 (-)
WSB/EiJ	MGP_WSBEiJ_G0035217	protein coding gene	ChrX:132249441-132253846 (-)

Human Ortholog

ESX1, ESX homeobox 1

Vertebrate Orthologs

1

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ESX1, ESX homeobox 1
Synonyms

ESX1L, ESXR1
Links

HGNC:14865

NCBI Gene ID: 80712

neXtProt AC: NX_Q8N693

UniProt: Q8N693
Chr Location

Xq22.2; chrX:104250038-104254933 (-) GRCh38

MGI Vertebrate Homology

Esx1 stringent orthology
1 human;1 mouse
HCOP

vertebrate homology predictions: ESX1
Gene Tree

Esx1

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Phenotype Summary

11 phenotypes from 1 allele in 1 genetic background
1 phenotype reference

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

1
Targeted

1
Incidental Mutations

CvDC
Find Mice (IMSR)

1 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Hemizygous males and heterozygous females who inherit a null targeted mutation from their mothers exhibit defects in the labyrinthine layer of the placenta resulting in impaired vascularization and reduced birth weights. Adult mutant weights are normal.

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All GO Annotations

18
GO References

4

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

982
Tissues

90
cDNA Data

9
Literature Summary

29

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

40
RefSeq

4
UniProt

5
CCDS

CCDS53199.1

Ensembl

ENSMUSG00000023443 (Evidence)
NCBI Gene

13984

			Length	Strain/Species	Flank
genomic	ENSMUSG00000023443	Ensembl Gene Model \| MGI Sequence Detail	6687	C57BL/6J	± kb
transcript	ENSMUST00000074698	Ensembl \| MGI Sequence Detail	1600	Not Applicable
polypeptide	ENSMUSP00000074262	Ensembl \| MGI Sequence Detail	382	Not Applicable

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UniProt

5 Sequences
InterPro Domains

IPR000047 Helix-turn-helix motif

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR009057 Homeobox-like domain superfamily

IPR050649 Paired Homeobox Transcription Factors

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All nucleic 19

Genomic 4

cDNA 10

Primer pair 3

Other 2

Microarray probesets 3

Summaries

All 48

Developmental Gene Expression 29

Gene Ontology 4

Phenotypes 1
Earliest

J:42032 Branford WW, et al., Spx1, a novel X-linked homeobox gene expressed during spermatogenesis. Mech Dev. 1997 Jul;65(1-2):87-98
Latest

J:330219 Solmonson A, et al., Compartmentalized metabolism supports midgestation mammalian development. Nature. 2022 Apr;604(7905):349-353

TSS for Esx1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr164212	ChrX:136022884-136022920 (-)	-70 bp
Tssr164211	ChrX:136020877-136020882 (-)	1,952 bp
Tssr164210	ChrX:136020554-136020568 (-)	2,271 bp
Tssr164209	ChrX:136020455-136020463 (-)	2,373 bp
Tssr164208	ChrX:136018024-136018055 (-)	4,792 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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