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

Gene ID: 20671, updated on 11-Sep-2018

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 Vega:OTTMUSG00000050014
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

Genomic context

See Sox17 in Genome Data Viewer
Location:
1 A1; 1 1.65 cM
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (4490928..4497386, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (4481009..4486494, complement)

Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene actinin alpha 4 pseudogene Neighboring gene retinitis pigmentosa 1 (human) Neighboring gene Moloney leukemia virus 10 pseudogene Neighboring gene predicted gene, 37323 Neighboring gene predicted gene, 39586

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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

General protein information

Preferred Names
transcription factor SOX-17
Names
SRY-box containing gene 17

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.

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001276393.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein (isoform a, also known as Sox17; PMID 8636240).
    Source sequence(s)
    AK004781, AK076707, D49474
    Consensus CDS
    CCDS14805.1
    UniProtKB/Swiss-Prot
    Q61473
    Related
    ENSMUSP00000112351.2, OTTMUSP00000068697, ENSMUST00000116652.7, OTTMUST00000127246
    Conserved Domains (2) summary
    cd01388
    Location:67138
    SOX-TCF_HMG-box; 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 ...
    pfam12067
    Location:202417
    Sox_C_TAD; Sox C-terminal transactivation domain
  2. NM_001289465.1NP_001276394.1  transcription factor SOX-17 isoform b

    See identical proteins and their annotated locations for NP_001276394.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC129937, AK004781, AK076707
    Consensus CDS
    CCDS78539.1
    UniProtKB/Swiss-Prot
    Q61473
    UniProtKB/TrEMBL
    A0A0A6YXS3
    Related
    ENSMUSP00000142116.1, OTTMUSP00000068698, ENSMUST00000192650.5, OTTMUST00000127247
    Conserved Domains (2) summary
    pfam12067
    Location:137352
    Sox_C_TAD; Sox C-terminal transactivation domain
    cl00082
    Location:3873
    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 ...
  3. NM_001289466.1NP_001276395.1  transcription factor SOX-17 isoform b

    See identical proteins and their annotated locations for NP_001276395.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AC129937
    Consensus CDS
    CCDS78539.1
    UniProtKB/TrEMBL
    A0A0A6YXS3
    Conserved Domains (2) summary
    pfam12067
    Location:137352
    Sox_C_TAD; Sox C-terminal transactivation domain
    cl00082
    Location:3873
    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 ...
  4. NM_001289467.1NP_001276396.1  transcription factor SOX-17 isoform c

    See identical proteins and their annotated locations for NP_001276396.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. The resulting isoform (c, also known as t-Sox17; PMID 8636240) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AC129937
    Consensus CDS
    CCDS78538.1
    UniProtKB/Swiss-Prot
    Q61473
    Related
    ENSMUSP00000141894.1, OTTMUSP00000068700, ENSMUST00000195555.1, OTTMUST00000127249
    Conserved Domains (1) summary
    pfam12067
    Location:74289
    Sox_C_TAD; Sox C-terminal transactivation domain
  5. NM_011441.5NP_035571.1  transcription factor SOX-17 isoform a

    See identical proteins and their annotated locations for NP_035571.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as Sox17; PMID 8636240). Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC129937, AK004781, AK076707
    Consensus CDS
    CCDS14805.1
    UniProtKB/Swiss-Prot
    Q61473
    Related
    ENSMUSP00000027035.3, OTTMUSP00000068696, ENSMUST00000027035.9, OTTMUST00000127245
    Conserved Domains (2) summary
    cd01388
    Location:67138
    SOX-TCF_HMG-box; 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 ...
    pfam12067
    Location:202417
    Sox_C_TAD; Sox C-terminal transactivation domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

    Range
    4490928..4497386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006495475.3XP_006495538.1  transcription factor SOX-17 isoform X1

    See identical proteins and their annotated locations for XP_006495538.1

    UniProtKB/Swiss-Prot
    Q61473
    Conserved Domains (2) summary
    cd01388
    Location:67138
    SOX-TCF_HMG-box; 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 ...
    pfam12067
    Location:202417
    Sox_C_TAD; Sox C-terminal transactivation domain
  2. XM_011238364.2XP_011236666.1  transcription factor SOX-17 isoform X1

    See identical proteins and their annotated locations for XP_011236666.1

    UniProtKB/Swiss-Prot
    Q61473
    Conserved Domains (2) summary
    cd01388
    Location:67138
    SOX-TCF_HMG-box; 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 ...
    pfam12067
    Location:202417
    Sox_C_TAD; Sox C-terminal transactivation domain
  3. XM_006495474.2XP_006495537.1  transcription factor SOX-17 isoform X1

    See identical proteins and their annotated locations for XP_006495537.1

    UniProtKB/Swiss-Prot
    Q61473
    Conserved Domains (2) summary
    cd01388
    Location:67138
    SOX-TCF_HMG-box; 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 ...
    pfam12067
    Location:202417
    Sox_C_TAD; Sox C-terminal transactivation domain
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