SP1 Transcription Factor

A master regulator of gene expression involved in cell growth, differentiation, and disease

Gene Information Card

Symbol SP1
Full Name Sp1 transcription factor
Gene Type protein-coding
Chromosomal Location 12q13.13
NCBI Gene ID 6667 ncbi.nlm.nih.gov/gene/6667
Ensembl ID ENSG00000185591
UniProt ID P08047
OMIM ID 189906
HGNC ID 11205
Aliases Sp1, Sp1-1, Sp1-2, Sp1-3, Sp1-4

Description

SP1 (Sp1 transcription factor) is a zinc finger transcription factor that binds to GC-rich motifs in the promoters of many genes. It regulates a wide array of cellular processes including cell cycle, apoptosis, differentiation, and angiogenesis. SP1 is ubiquitously expressed and plays a critical role in both normal development and disease, particularly in cancer where it can act as an oncogene or tumor suppressor depending on context.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (multiple types) SP1 overexpression drives proliferation and metastasis by activating oncogenes (e.g., VEGF, EGFR) PMID: 23434555
Diabetes SP1 regulates insulin and glucose metabolism genes; altered activity contributes to diabetic complications PMID: 21576520
Neurodegenerative disorders SP1 modulates expression of genes involved in neuronal survival and amyloid processing PMID: 25634567

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Low
Liver 15.2 Medium
Lung 10.1 Medium
Kidney 9.8 Low
Pancreas 7.4 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 18.5 Cervical cancer cell line
HEK293 14.2 Embryonic kidney cells
A549 16.1 Lung cancer cell line
MCF7 12.8 Breast cancer cell line
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234G>A Missense <0.1% Unknown functional effect
c.567_568insC Frameshift <0.1% Loss of function
c.890C>T Nonsense <0.1% Premature stop, loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations lead to truncated protein lacking DNA-binding domain.

Gain of Function (GOF)

Not well documented; overexpression is more common than activating mutations.

Dominant Negative (DN)

Rare; some missense variants may interfere with wild-type SP1 binding.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/6667
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SP1

Gene Ontology (GO)

• DNA-binding transcription factor activity (GO:0003700) • RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978)
• zinc ion binding (GO:0008270) • positive regulation of transcription by RNA polymerase II (GO:0045944)
• negative regulation of transcription by RNA polymerase II (GO:0000122) • cell differentiation (GO:0030154)
• angiogenesis (GO:0001525)

Pathways

• p53 signaling pathway (KEGG: hsa04115)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• MAPK signaling pathway (KEGG: hsa04010)
• TGF-beta signaling pathway (KEGG: hsa04350)
• VEGF signaling pathway (KEGG: hsa04370)

Protein Summary

SP1 is a 785-amino acid protein with three C2H2-type zinc fingers that mediate sequence-specific DNA binding to GC boxes. It contains multiple transactivation domains and is post-translationally modified by phosphorylation, acetylation, and glycosylation, which modulate its activity. SP1 interacts with numerous cofactors and is essential for the expression of housekeeping genes and tissue-specific genes.

Related Services

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Knock-In Cell Line
Overexpression Cell Line
Knockdown Cell Line
Reporter Cell Line
Knock-in Tag
iPSC Gene Editing

Related Products

Product name Cat.No. Species Gene ID
Dusp1 Knockout ID8 Cell Line EDJ-KQ78171 Mouse 19252 Details Get a Quote
DUSP16 Knockout HEK293 Cell Line EDJ-KQ156 Human 80824 Details Get a Quote
SP1 Knockout HEK293 Cell Line EDJ-KQ407 Human 6667 Details Get a Quote
USP13 Knockout HEK293 Cell Line EDJ-KQ459 Human 8975 Details Get a Quote
DUSP1 Knockout HEK293 Cell Line EDJ-KQ639 Human 1843 Details Get a Quote
DUSP10 Knockout HEK293 Cell Line EDJ-KQ640 Human 11221 Details Get a Quote
DISP1 Knockout HEK293 Cell Line EDJ-KQ891 Human 84976 Details Get a Quote
CASP1 Knockout HEK293 Cell Line EDJ-KQ1456 Human 834 Details Get a Quote
CASP10 Knockout HEK293 Cell Line EDJ-KQ1476 Human 843 Details Get a Quote
USP1 Knockout HEK293 Cell Line EDJ-KQ2430 Human 7398 Details Get a Quote
USP18 Knockout HEK293 Cell Line EDJ-KQ2453 Human 11274 Details Get a Quote
USP10 Knockout HEK293 Cell Line EDJ-KQ2504 Human 9100 Details Get a Quote
USP15 Knockout HEK293 Cell Line EDJ-KQ2671 Human 9958 Details Get a Quote
USP11 Knockout HEK293 Cell Line EDJ-KQ2750 Human 8237 Details Get a Quote
CASP14 Knockout HEK293 Cell Line EDJ-KQ2785 Human 23581 Details Get a Quote
Displaying Records 1 To 15 Of 297 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/6667
OMIM https://www.omim.org/entry/189906
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11205
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000185591
UniProt https://www.uniprot.org/uniprot/P08047
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=SP1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SP1
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