Sp4 trans-acting transcription factor 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sp4provided by MGI
Official Full Name: trans-acting transcription factor 4provided by MGI
Primary source: MGI:MGI:107595
See related: Ensembl:ENSMUSG00000025323 AllianceGenome:MGI:107595
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: HF-1b; HF1-b; 5730497N03Rik
Summary: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within regulation of heart contraction. Predicted to be located in cytosol and nucleoplasm. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; nervous system; and sensory organ. Used to study schizophrenia. Human ortholog(s) of this gene implicated in congenital heart disease and dilated cardiomyopathy. Orthologous to human SP4 (Sp4 transcription factor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in whole brain E14.5 (RPKM 2.8), CNS E14 (RPKM 2.6) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 F2; 12 63.48 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (118195421..118265211, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (118231686..118301440, complement)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Although our studies initially focused on the relationship between Sp4, TRPV1 and thermal hyperalgesia, our results more broadly suggest that a larger Sp4-dependent gene network or nociceptive transcriptome exists inclusive of TRPV1, TRPA1 and TRPM8.
Title: Transcription factor Sp4 is required for hyperalgesic state persistence.
RNAi-mediated depletion of Sp4 and Klf5 decreased Tas1r1 expression, while overexpression of Klf5, but not Sp4, significantly increased Tas1r1 expression in the myoblast cells.
Title: Krüppel-like factor 5 (Klf5) regulates expression of mouse T1R1 amino acid receptor gene (Tas1r1) in C2C12 myoblast cells.
Sp4 hypomorphic mice had markedly elevated theta power localized frontally and parietally, a more pronounced theta phase progression along the neuraxis, and a stronger frontal-parietal theta coupling. Acute subanesthetic ketamine did not affect theta power in wildtype animals but significantly reduced it in Sp4 hypomorphic mice, nearly completely neutralizing their excessive frontal/parietal theta power.
Title: Ketamine independently modulated power and phase-coupling of theta oscillations in Sp4 hypomorphic mice.
elucidation of the Sp4 molecular pathway in Sp4 hypomorphic mice may provide novel insights to our understanding of abnormal NMDAR signaling in schizophrenia
Title: Prolonged Ketamine Effects in Sp4 Hypomorphic Mice: Mimicking Phenotypes of Schizophrenia.
The transcription factor Specificity Protein 4 (SP4) is important for neurodevelopment and is genetically associated with both schizophrenia and bipolar disorder.
Title: GlyT-1 Inhibition Attenuates Attentional But Not Learning or Motivational Deficits of the Sp4 Hypomorphic Mouse Model Relevant to Psychiatric Disorders.
Results suggest that the Sp4 gene in forebrain GABAergic neurons regulates ketamine-induced hyperlocomotion
Title: Restoration of Sp4 in Forebrain GABAergic Neurons Rescues Hypersensitivity to Ketamine in Sp4 Hypomorphic Mice.
Sp4 functionally regulated GluN1, GluN2A, and GluN2B, but not GluN2C.
Title: Specificity protein 4 functionally regulates the transcription of NMDA receptor subunits GluN1, GluN2A, and GluN2B.
neuron-specific Sp4 regulates the expression of all 13 subunits of mitochondrial cytochrome c oxidase(COX) enzyme in primary neurons. Sp4 also regulates mitochondrial transcription factors (TFAM, TFB1M, and TFB2M) and a COX assembly protein SURF-1.
Title: Neuron-specific specificity protein 4 bigenomically regulates the transcription of all mitochondria- and nucleus-encoded cytochrome c oxidase subunit genes in neurons.
Sp4 hypomorphic mice could therefore serve as a genetic model to investigate impaired NMDA functions resulting from loss-of-function mutations of human SP4 gene in schizophrenia and/or other psychiatric disorders.
Title: Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders.
Dendritic growth and arborization of dentate granule cells was decreased in hippocampal cultures in vitro from SP4 null mutant neonatal mice.
Title: Impaired postnatal development of hippocampal dentate gyrus in Sp4 null mutant mice.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (6) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
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 identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within regulation of heart contraction	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
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

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

General protein information

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Preferred Names: transcription factor Sp4

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_001166385.2 → NP_001159857.2 transcription factor Sp4 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This difference results in a shorter isoform (2) compared to isoform 1.

Source sequence(s)

AC163032, AC163034, BC076630, BY070406

Consensus CDS

CCDS88413.1

UniProtKB/TrEMBL

K4DI62, Q6DFV2

Related

ENSMUSP00000026367.11, ENSMUST00000026367.11

Conserved Domains (4) summary

sd00017
Location:645 → 667

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:703 → 725

zf-C2H2; Zinc finger, C2H2 type

cd22536
Location:30 → 644

SP4_N; N-terminal domain of transcription factor Specificity Protein (SP) 4

pfam13465
Location:689 → 712

zf-H2C2_2; Zinc-finger double domain
NM_009239.4 → NP_033265.4 transcription factor Sp4 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC163032, AC163034, BC076630, BY070406

Consensus CDS

CCDS36579.1

UniProtKB/Swiss-Prot

E9QNI3, Q62445

UniProtKB/TrEMBL

A0A1Y7VJR5

Related

ENSMUSP00000152603.2, ENSMUST00000222314.2

Conserved Domains (4) summary

COG5048
Location:660 → 731

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

sd00017
Location:647 → 669

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:705 → 727

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:691 → 714

zf-H2C2_2; Zinc-finger double 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_000078.7 Reference GRCm39 C57BL/6J

Range

118195421..118265211 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017315007.3 → XP_017170496.1 transcription factor Sp4 isoform X1

UniProtKB/Swiss-Prot

E9QNI3, Q62445

Conserved Domains (3) summary

sd00017
Location:632 → 654

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:690 → 712

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:676 → 699

zf-H2C2_2; Zinc-finger double domain
XM_036157278.1 → XP_036013171.1 transcription factor Sp4 isoform X2

UniProtKB/Swiss-Prot

E9QNI3, Q62445

Conserved Domains (4) summary

sd00017
Location:588 → 610

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:646 → 668

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:632 → 655

zf-H2C2_2; Zinc-finger double domain

cd22536
Location:30 → 587

SP4_N; N-terminal domain of transcription factor Specificity Protein (SP) 4
XM_036157279.1 → XP_036013172.1 transcription factor Sp4 isoform X3

Conserved Domains (5) summary

COG5048
Location:349 → 420

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

sd00017
Location:336 → 358

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:334 → 358

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:380 → 403

zf-H2C2_2; Zinc-finger double domain

cl41773
Location:1 → 335

SP1-4_N; N-terminal domain of transcription factor Specificity Proteins (SP) 1-4