Sox17 SRY (sex determining region Y)-box 17 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sox17provided by MGI
Official Full Name: SRY (sex determining region Y)-box 17provided by MGI
Primary source: MGI:MGI:107543
See related: Ensembl:ENSMUSG00000025902 AllianceGenome:MGI:107543
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: This gene encodes a member of the Sox (Sry-related high mobility group box) family of transcription factors involved in the regulation of embryonic development. The encoded protein plays a role in the determination of cell fate and in maintaining cell identity. This gene regulates tumor angiogenesis and tumor progression. Mutations in the human gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression: Broad expression in ovary adult (RPKM 33.5), lung adult (RPKM 29.7) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 A1; 1 1.65 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (4561154..4567624, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (4490928..4497426, complement)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SOX17 enables immune evasion of early colorectal adenomas and cancers.
Title: SOX17 enables immune evasion of early colorectal adenomas and cancers.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Title: Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
DNMT3A-mediated epigenetic silencing of SOX17 contributes to endothelial cell migration and fibroblast activation in wound healing.
Title: DNMT3A-mediated epigenetic silencing of SOX17 contributes to endothelial cell migration and fibroblast activation in wound healing.
An engineered Sox17 induces somatic to neural stem cell fate transitions independently from pluripotency reprogramming.
Title: An engineered Sox17 induces somatic to neural stem cell fate transitions independently from pluripotency reprogramming.
SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension.
Title: SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension.
SOX17 is a Critical Factor in Maintaining Endothelial Function in Pulmonary Hypertension by an Exosome-Mediated Autocrine Manner.
Title: SOX17 is a Critical Factor in Maintaining Endothelial Function in Pulmonary Hypertension by an Exosome-Mediated Autocrine Manner.
SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics.
Title: SOX17 Deficiency Mediates Pulmonary Hypertension: At the Crossroads of Sex, Metabolism, and Genetics.
SOX17-positive rete testis epithelium is required for Sertoli valve formation and normal spermiogenesis in the male mouse.
Title: SOX17-positive rete testis epithelium is required for Sertoli valve formation and normal spermiogenesis in the male mouse.
Sox17 Deficiency Promotes Pulmonary Arterial Hypertension via HGF/c-Met Signaling.
Title: Sox17 Deficiency Promotes Pulmonary Arterial Hypertension via HGF/c-Met Signaling.
Dysregulation of SOX17/NRF2 axis confers chemoradiotherapy resistance and emerges as a novel therapeutic target in esophageal squamous cell carcinoma.
Title: Dysregulation of SOX17/NRF2 axis confers chemoradiotherapy resistance and emerges as a novel therapeutic target in esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (82)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (12) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sox17 (e-PCR), detects polymorphism
- UniSTS:471102

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor 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-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cardiac cell fate determination	ISO Inferred from Sequence Orthology more info
involved_in cardiogenic plate morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell migration involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within common bile duct development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic foregut morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic foregut morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic heart tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic organ development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocardial cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endocardium formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoderm formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoderm formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of endodermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within endodermal cell fate determination	IDA Inferred from Direct Assay more info	PubMed
involved_in endodermal cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endodermal digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gallbladder development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner cell mass cellular morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephros development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
involved_in outflow tract morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of endodermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein destabilization	ISO Inferred from Sequence Orthology more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cardiac cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of stem cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of stem cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within rostrocaudal neural tube patterning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within signal transduction involved in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within spermatogenesis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stem cell fate specification	IDA Inferred from Direct Assay more info	PubMed
involved_in ureter development	ISO Inferred from Sequence Orthology more info
involved_in vasculogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within vasculogenesis	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement 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
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transcription factor SOX-17

Names: SRY-box containing gene 17

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.

mRNA and Protein(s)

NM_001289464.2 → NP_001276393.1 transcription factor SOX-17 isoform a

See identical proteins and their annotated locations for NP_001276393.1

Status: REVIEWED

Source sequence(s)

AC129937

Consensus CDS

CCDS14805.1

UniProtKB/Swiss-Prot

Q61472, Q61473, Q62248

Related

ENSMUSP00000112351.3, ENSMUST00000116652.8

Conserved Domains (2) summary

cd01388
Location:67 → 138

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam12067
Location:203 → 253

Sox17_18_mid; Sox 17/18 central domain
NM_001289465.2 → NP_001276394.1 transcription factor SOX-17 isoform b

See identical proteins and their annotated locations for NP_001276394.1

Status: REVIEWED

Source sequence(s)

AC129937

Consensus CDS

CCDS78539.1

UniProtKB/TrEMBL

A0A0A6YXS3

Related

ENSMUSP00000142116.2, ENSMUST00000192650.6

Conserved Domains (2) summary

pfam12067
Location:137 → 352

Sox_C_TAD; Sox C-terminal transactivation domain

cl00082
Location:38 → 73

HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
NM_001289466.2 → NP_001276395.1 transcription factor SOX-17 isoform b

See identical proteins and their annotated locations for NP_001276395.1

Status: REVIEWED

Source sequence(s)

AC129937

Consensus CDS

CCDS78539.1

UniProtKB/TrEMBL

A0A0A6YXS3

Conserved Domains (2) summary

pfam12067
Location:137 → 352

Sox_C_TAD; Sox C-terminal transactivation domain

cl00082
Location:38 → 73

HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...
NM_001289467.2 → NP_001276396.1 transcription factor SOX-17 isoform c

See identical proteins and their annotated locations for NP_001276396.1

Status: REVIEWED

Source sequence(s)

AC129937

Consensus CDS

CCDS78538.1

UniProtKB/Swiss-Prot

Q61473

Related

ENSMUSP00000141894.2, ENSMUST00000195555.2

Conserved Domains (1) summary

pfam12067
Location:74 → 289

Sox_C_TAD; Sox C-terminal transactivation domain
NM_001420508.1 → NP_001407437.1 transcription factor SOX-17 isoform a

Status: REVIEWED

Source sequence(s)

AC129937

UniProtKB/Swiss-Prot

Q61472, Q61473, Q62248
NM_001420509.1 → NP_001407438.1 transcription factor SOX-17 isoform a

Status: REVIEWED

Source sequence(s)

AC129937

UniProtKB/Swiss-Prot

Q61472, Q61473, Q62248
NM_011441.6 → NP_035571.1 transcription factor SOX-17 isoform a

See identical proteins and their annotated locations for NP_035571.1

Status: REVIEWED

Source sequence(s)

AC129937

Consensus CDS

CCDS14805.1

UniProtKB/Swiss-Prot

Q61472, Q61473, Q62248

Related

ENSMUSP00000027035.4, ENSMUST00000027035.10

Conserved Domains (2) summary

cd01388
Location:67 → 138

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam12067
Location:203 → 253

Sox17_18_mid; Sox 17/18 central domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

4561154..4567624 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162991.1 → XP_036018884.1 transcription factor SOX-17 isoform X1

UniProtKB/Swiss-Prot

Q61472, Q61473, Q62248

Conserved Domains (2) summary

cd01388
Location:67 → 138

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam12067
Location:203 → 253

Sox17_18_mid; Sox 17/18 central domain
XM_030252405.1 → XP_030108265.1 transcription factor SOX-17 isoform X1

UniProtKB/Swiss-Prot

Q61472, Q61473, Q62248

Conserved Domains (2) summary

cd01388
Location:67 → 138

SOX-TCF_HMG-box; class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and vertebrates, and ...

pfam12067
Location:203 → 253

Sox17_18_mid; Sox 17/18 central domain
XM_036162992.1 → XP_036018885.1 transcription factor SOX-17 isoform X2

Conserved Domains (2) summary

pfam12067
Location:104 → 154

Sox17_18_mid; Sox 17/18 central domain

cl00082
Location:7 → 39

HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...