SP6
Transcription factor Sp6
Also known as: Epfn, KLF14, SP6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q3SY56
- Gene
- SP6
- Ensembl
- ENSG00000189120
- Chromosome
- 17
- Canonical length
- 376 aa
- Protein class
- Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Mitotic spindle,Centrosome
OverviewNCBI Gene
SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
376 residues, UniProt reviewed canonical sequence.
>Q3SY56|SP6
1 MLTAVCGSLG SQHTEAPHAS PPRLDLQPLQ TYQGHTSPEA GDYPSPLQPG ELQSLPLGPE
61 VDFSQGYELP GASSRVTCED LESDSPLAPG PFSKLLQPDM SHHYESWFRP THPGAEDGSW
121 WDLHPGTSWM DLPHTQGALT SPGHPGALQA GLGGYVGDHQ LCAPPPHPHA HHLLPAAGGQ
181 HLLGPPDGAK ALEVAAPESQ GLDSSLDGAA RPKGSRRSVP RSSGQTVCRC PNCLEAERLG
241 APCGPDGGKK KHLHNCHIPG CGKAYAKTSH LKAHLRWHSG DRPFVCNWLF CGKRFTRSDE
301 LQRHLQTHTG TKKFPCAVCS RVFMRSDHLA KHMKTHEGAK EEAAGAASGE GKAGGAVEPP
361 GGKGKREAEG SVAPSNLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SP6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- placenta: 21 nTPM
- skin: 14 nTPM
- seminal vesicle: 9.7 nTPM
- parathyroid gland: 5.8 nTPM
- esophagus: 5.4 nTPM
- small intestine: 4.5 nTPM
Single-cell type
- syncytiotrophoblasts: 108 nCPM
- cytotrophoblasts: 70 nCPM
- esophageal apical cells: 37 nCPM
- migrating cytotrophoblasts: 35 nCPM
- breast lactating cells: 25 nCPM
- enterocytes: 14 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- pons: 1.9 nTPM
- medulla oblongata: 1.2 nTPM
- spinal cord: 1 nTPM
- cerebellum: 0.9 nTPM
- midbrain: 0.9 nTPM
- hypothalamus: 0.4 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SP6.
Disease | AllUniProt
Conditions SP6 is implicated in, by any mechanism.
- Amelogenesis imperfecta 1K (AI1K) MIM:620104
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 56 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Amelogenesis imperfecta, IIa 1K
- Amelogenesis imperfecta
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.76
- gnomAD pLI
- 0.15
- gnomAD missense Z
- 1.34
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- epithelial to mesenchymal transition
- odontogenesis
- regulation of odontogenesis
- regulation of transcription by RNA polymerase II
Molecular functions
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SP6 as an antibody target. Whether an autoantibody or antibody against SP6 could matter depends on whether native SP6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SP6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SP6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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