SP1 Sp1 transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SP1provided by HGNC
Official Full Name: Sp1 transcription factorprovided by HGNC
Primary source: HGNC:HGNC:11205
See related: Ensembl:ENSG00000185591 MIM:189906; AllianceGenome:HGNC:11205
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Expression: Ubiquitous expression in skin (RPKM 18.2), endometrium (RPKM 16.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53380176..53416446)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53346223..53382489)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53773960..53810230)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Specificity Protein 1 assists the Progression of the Papillary Thyroid Cell Line by Initiating NECTIN4.
Title: A Specificity Protein 1 assists the Progression of the Papillary Thyroid Cell Line by Initiating NECTIN4.
LINC01614 activated by SP1 promoted malignant behavior of triple-negative breast cancer cells via the WNT/b-Catenin signaling pathway.
Title: LINC01614 activated by SP1 promoted malignant behavior of triple-negative breast cancer cells via the WNT/b-Catenin signaling pathway.
STRIP2 is regulated by the transcription factor Sp1 and promotes lung adenocarcinoma progression via activating the PI3K/AKT/mTOR/MYC signaling pathway.
Title: STRIP2 is regulated by the transcription factor Sp1 and promotes lung adenocarcinoma progression via activating the PI3K/AKT/mTOR/MYC signaling pathway.
PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell.
Title: PSAT1 Promotes Metastasis via p-AKT/SP1/ITGA2 Axis in Estrogen Receptor-Negative Breast Cancer Cell.
P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer.
Title: P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer.
SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1.
Title: SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1.
Specificity protein 1/3 regulate T-cell acute lymphoblastic leukemia cell proliferation and apoptosis through beta-catenin by acting as targets of miR-495-3p.
Title: Specificity protein 1/3 regulate T-cell acute lymphoblastic leukemia cell proliferation and apoptosis through β-catenin by acting as targets of miR-495-3p.
The RNA-binding protein sorbin and SH3 domain-containing 2 are transcriptionally regulated by specificity protein 1 and function as tumor suppressors in bladder cancer by stabilizing tissue factor pathway inhibitor.
Title: The RNA-binding protein sorbin and SH3 domain-containing 2 are transcriptionally regulated by specificity protein 1 and function as tumor suppressors in bladder cancer by stabilizing tissue factor pathway inhibitor.
SP1-mediated ADAMTS5 transcription promotes IL-1beta-induced chondrocyte injury via Wnt/beta-catenin pathway in osteoarthritis.
Title: SP1‑mediated ADAMTS5 transcription promotes IL‑1β‑induced chondrocyte injury via Wnt/β‑catenin pathway in osteoarthritis.
GBP1 promotes cutaneous squamous cell carcinoma proliferation and invasion through activation of STAT3 by SP1.
Title: GBP1 promotes cutaneous squamous cell carcinoma proliferation and invasion through activation of STAT3 by SP1.

Submit: New GeneRIF Correction See all GeneRIFs (959)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pol	gag-pol	Transcription factors Oct-1, Oct-2, PU.1, Sp1, and Sp3 are recruited to the HS7 regulatory site in the pol coding region, suggesting that Oct-1, Oct-2, PU.1, Sp1, and Sp3 indirectly interact with HIV-1 Pol	PubMed
Tat	tat	HIV-1 Tat induces p73 at transcriptional levels only in the presence of Sp1 in cells	PubMed
	tat	The interaction of HIV-1 Tat with cellular transcription factors CDK9 and Sp1 is required for Tat activation of MAP2K3-, MAP2K6-, and IRF7-mediated luciferase transcription	PubMed
	tat	HIV-1 Tat expression inhibits the TCF-4-induced inhibition of Sp1 phosphorylation and Sp1-mediated HIV-1 LTR transcription	PubMed
	tat	Sp1 synergizes with HIV-1 Tat to activate HIV-1 transcription	PubMed
	tat	HIV-1 Tat binds to DNA-PK and augments DNA-PK-mediated phosphorylation of Sp1 during Tat transactivation of the HIV-1 LTR promoter	PubMed
	tat	Sp1 and Sp1-binding sites in the HIV-1 LTR promoter are required for HIV-1 Tat-mediated activation of viral transcription elongation	PubMed
	tat	Tat-induced IL-10 expression is regulated by p38 MAPK- and CaMK II-activated CREB-1 as well as Sp-1 transcription factors	PubMed
	tat	Hydroxyurea and IL-6 synergistically enhance HIV-1 Tat activation of HIV-1 LTR-driven transcription via the Sp1 binding site	PubMed
	tat	HIV-1 Tat downregulates SOD2 expression by interacting with Sp1 and Sp3 to increase the Sp3-containing complexes on the basal SOD2 promoter	PubMed
	tat	In hepatic cells, HIV-1 Tat expression upregulates Sp1 and Sp3, which play different roles in regulating MnSOD transcription (overexpression of Sp1 stimulates, while overexpression of Sp3 represses transcriptional activity)	PubMed
	tat	HIV-1 Tat represses transcription from the MHC class I, MDR1, minimal SV40 and other Sp1-dependent promoters, indicating Tat downregulates expression from these promoters by inhibiting Sp1 function	PubMed
	tat	HIV-1 Tat increases Sp1 binding in HeLa cells, suggesting Tat changes the conformation of Sp1 in order to regulate its function during HIV-1 transcription activation	PubMed
	tat	Sp1, COUP-TF and HIV-1 Tat interact and cooperate in the transcriptional activation of the HIV-1 LTR promoter in human microglial cells	PubMed
	tat	HIV-1 Tat upregulates the expression of galectin-3, NOS-3, and monocyte chemoattractant protein 1 (MCP-1) through Sp1 activation	PubMed
	tat	YB-1 and Sp1 exert negative effects on each other's function in enhancing transcription from the HIV-1 promoter, suggesting an interplay between these two proteins during regulation of HIV-1 Tat function	PubMed
	tat	The tumor suppressor protein p53 inhibits HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter through an interaction with the Sp1 sites in the LTR, suggesting an inhibition of Sp1 effects on Tat function	PubMed
	tat	HIV-1 Tat amino acids 30-55 mediate binding of Tat to Sp1, an effect that some reports indicate is a direct binding interaction, while other reports suggest it is indirect and possibly mediated through interaction with other cellular factors	PubMed
	tat	HIV-1 Tat cooperates with Sp1 to enhance transcript elongation, leading to exon skipping and effects on splicing	PubMed
Vpr	vpr	HIV-1 Vpr induces HIF-1alpha expression, which involves the presence of Sp1 and the p65 subunit of NFkappaB transcription factors	PubMed
	vpr	HIV-1 Vpr activates promoter activity of p21/Cip1/Waf1 through the GC-rich region located between nucleotides -84 and -74 in a manner that requires cooperativity of Sp1, which binds to the DNA sequence spanning -84 to -74	PubMed
	vpr	Results from GST pull-down assays show the association of Vpr with p53 in extracts containing Sp1, suggesting the physical interaction of Vpr with Sp1 and p53 could modulate transcriptional activity of p21	PubMed
	vpr	HIV-1 Vpr interacts with Sp1 in the context of an Sp1-DNA complex that may also include p53, resulting in the transactivation of the HIV-1 LTR promoter	PubMed
nucleocapsid	gag	HIV-1 Nucleocapsid has been shown to bind to the HIV-1 LTR promoter and enhance NF-kappaB, Sp1, and TFIIB-induced HIV-1 LTR-directed RNA transcription	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35173 (e-PCR)
- UniSTS:3622

SHGC-33077 (e-PCR)
- UniSTS:14887

G15947 (e-PCR)
- UniSTS:60231

D12S1882 (e-PCR)
- UniSTS:30605

RH46968 (e-PCR)
- UniSTS:69549

GDB:384842 (e-PCR)
- UniSTS:157105

PMC114562P1 (e-PCR)
- UniSTS:270269

SP1_2361 (e-PCR)
- UniSTS:281027

RH65088 (e-PCR)
- UniSTS:89838

RH93219 (e-PCR)
- UniSTS:87025

A006M45 (e-PCR)
- UniSTS:25593

Gene Ontology Provided by GOA

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	IDA Inferred from Direct Assay 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	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables bHLH transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase binding	IEA Inferred from Electronic Annotation more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to estrogen stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to wortmannin	IEA Inferred from Electronic Annotation more info
involved_in cellular response to zinc ion starvation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation by host of viral transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of positive regulation of amyloid-beta formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hydrogen sulfide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in 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	IGI Inferred from Genetic Interaction 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 vascular endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hydroperoxide	ISS Inferred from Sequence or Structural Similarity more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in euchromatin	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-DNA complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor Sp1

Names: specificity protein 1

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.

Genomic

NG_030361.1 RefSeqGene

Range

4982..41252

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001251825.2 → NP_001238754.1 transcription factor Sp1 isoform c

See identical proteins and their annotated locations for NP_001238754.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC068889, AC073611, AW028976, BC062539, FN908228

UniProtKB/Swiss-Prot

P08047

Conserved Domains (4) summary

COG5048
Location:593 → 664

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

sd00017
Location:580 → 602

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:638 → 660

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:624 → 647

zf-H2C2_2; Zinc-finger double domain
NM_003109.1 → NP_003100.1 transcription factor Sp1 isoform b

See identical proteins and their annotated locations for NP_003100.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.

Source sequence(s)

AC068889, AI561005, BC043224, BC062539

Consensus CDS

CCDS44898.1

UniProtKB/Swiss-Prot

P08047

Related

ENSP00000404263.2, ENST00000426431.2

Conserved Domains (4) summary

COG5048
Location:634 → 705

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

sd00017
Location:621 → 643

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:679 → 701

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:665 → 688

zf-H2C2_2; Zinc-finger double domain
NM_138473.3 → NP_612482.2 transcription factor Sp1 isoform a

See identical proteins and their annotated locations for NP_612482.2

Status: REVIEWED

Description

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

Source sequence(s)

AC073611, AF255682, AI282745, AL442093, BC012008, BC043224, BF434304, BF436290, BF671559, BM463205, BQ072120, BQ431320, BQ774060, CD104746

Consensus CDS

CCDS8857.1

UniProtKB/Swiss-Prot

E4Z9M7, G5E9M8, P08047, Q86TN8, Q9H3Q5, Q9NR51, Q9NY21, Q9NYE7

Related

ENSP00000329357.4, ENST00000327443.9

Conserved Domains (3) summary

sd00017
Location:628 → 650

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:686 → 708

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:672 → 695

zf-H2C2_2; Zinc-finger double domain