Sp6 trans-acting transcription factor 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sp6provided by MGI
Official Full Name: trans-acting transcription factor 6provided by MGI
Primary source: MGI:MGI:1932575
See related: Ensembl:ENSMUSG00000038560 AllianceGenome:MGI:1932575
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Epfn; Klf14; 1110025J03Rik
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in epithelial to mesenchymal transition and odontogenesis. Acts upstream of or within regulation of odontogenesis. Predicted to be located in cytosol and nucleus. Is expressed in several structures, including branchial arch; genitourinary system; limb ectoderm; limb epithelium; and tooth. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1K. Orthologous to human SP6 (Sp6 transcription factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in stomach adult (RPKM 4.9), lung adult (RPKM 2.4) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 60.51 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (96904395..96915565)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (97013569..97024739)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Sp6/Epiprofin is a master regulator in the developing tooth.
Title: Sp6/Epiprofin is a master regulator in the developing tooth.
Pannexin 3 regulates skin development via Epiprofin.
Title: Pannexin 3 regulates skin development via Epiprofin.
Whole body loss of KLF14 function in male mice does not result in metabolic abnormalities as assessed under chow and HFD conditions.
Title: Germline deletion of Krüppel-like factor 14 does not increase risk of diet induced metabolic syndrome in male C57BL/6 mice.
Results demonstrate that KLF14 expression is induced in the livers of normal C57BL/6J mice upon fasting and significantly up-regulated in the livers of db/db mice, suggesting a physiological link between KLF14 and gluconeogenesis.
Title: The KLF14 transcription factor regulates hepatic gluconeogenesis in mice.
Epfn preserves the balance between cell proliferation and cytodifferentiation in dental epithelial and mesenchymal cells during normal tooth development and morphogenesis.
Title: Epiprofin Regulates Enamel Formation and Tooth Morphogenesis by Controlling Epithelial-Mesenchymal Interactions During Tooth Development.
epiprofin (Epfn, also known as Sp6) plays crucial distinct roles in these transition stages as a cell cycle regulator and a transcription factor.
Title: Epiprofin orchestrates epidermal keratinocyte proliferation and differentiation.
Our data are compatible with Sp6 and Sp8 working together and in a dose-dependent manner as indispensable mediators of Wnt/betacatenin and Bmp signaling in the limb ectoderm
Title: Sp6 and Sp8 transcription factors control AER formation and dorsal-ventral patterning in limb development.
Epfn enhances canonical Wnt/beta-catenin signaling in the developing dental pulp mesenchyme.
Title: Epiprofin/Sp6 regulates Wnt-BMP signaling and the establishment of cellular junctions during the bell stage of tooth development.
EPFN very likely functions as a modulator of WNT signaling in the limb ectoderm.
Title: Role of Epiprofin, a zinc-finger transcription factor, in limb development.
Data suggest that Sp6 plays a critical role in the development of several epithelium-containing organs or appendages, possibly by regulating apoptosis.
Title: The development of several organs and appendages is impaired in mice lacking Sp6.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Targeted (3) 1 citation

General gene information

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Markers

RH125032 (e-PCR)
- UniSTS:161854

AI592962 (e-PCR)
- UniSTS:164480

NoName (e-PCR)
- UniSTS:236717

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of odontogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transcription factor Sp6

Names: Kruppel-like factor 14; Sp6 transcription factor; epiprofin; krueppel-like factor 14; specificity protein 6

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_001363230.1 → NP_001350159.1 transcription factor Sp6

Status: VALIDATED

Source sequence(s)

AK137686, AL606664

Consensus CDS

CCDS25309.1

UniProtKB/Swiss-Prot

Q6VM22, Q9ESX2

UniProtKB/TrEMBL

A2A708

Related

ENSMUSP00000103248.2, ENSMUST00000107622.2

Conserved Domains (2) summary

COG5048
Location:261 → 336

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:259 → 278

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_031183.3 → NP_112460.1 transcription factor Sp6

See identical proteins and their annotated locations for NP_112460.1

Status: VALIDATED

Source sequence(s)

AK137686, AL606664, BE648643

Consensus CDS

CCDS25309.1

UniProtKB/Swiss-Prot

Q6VM22, Q9ESX2

UniProtKB/TrEMBL

A2A708

Related

ENSMUSP00000039307.8, ENSMUST00000047997.8

Conserved Domains (2) summary

COG5048
Location:261 → 336

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:259 → 278

ZF_C2H2; C2H2 Zn finger [structural motif]