SP7

Protein identityUniProt · HPA

UniProt accession

Q8TDD2

Gene

SP7

Ensembl

ENSG00000170374

Chromosome

12

Canonical length

431 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]

Canonical amino-acid sequenceUniProt

431 residues, UniProt reviewed canonical sequence.

>Q8TDD2|SP7
     1  MASSLLEEEV HYGSSPLAML TAACSKFGGS SPLRDSTTLG KAGTKKPYSV GSDLSASKTM
    61  GDAYPAPFTS TNGLLSPAGS PPAPTSGYAN DYPPFSHSFP GPTGTQDPGL LVPKGHSSSD
   121  CLPSVYTSLD MTHPYGSWYK AGIHAGISPG PGNTPTPWWD MHPGGNWLGG GQGQGDGLQG
   181  TLPTGPAQPP LNPQLPTYPS DFAPLNPAPY PAPHLLQPGP QHVLPQDVYK PKAVGNSGQL
   241  EGSGGAKPPR GASTGGSGGY GGSGAGRSSC DCPNCQELER LGAAAAGLRK KPIHSCHIPG
   301  CGKVYGKASH LKAHLRWHTG ERPFVCNWLF CGKRFTRSDE LERHVRTHTR EKKFTCLLCS
   361  KRFTRSDHLS KHQRTHGEPG PGPPPSGPKE LGEGRSTGEE EASQTPRPSA SPATPEKAPG
   421  GSPEQSNLLE I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SP7 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)

0.66

Highest tissue expression

0.7 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SP7.

Disease | AllUniProt

Conditions SP7 is implicated in, by any mechanism.

• Osteogenesis imperfecta 12 (OI12) MIM:613849

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 199 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Osteogenesis imperfecta type 12

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)

0.56

gnomAD pLI

0.58

gnomAD missense Z

0.5

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to parathyroid hormone stimulus
• cellular response to zinc ion starvation
• cementum mineralization
• diphosphate metabolic process
• gene expression
• hematopoietic stem cell differentiation
• osteoblast differentiation
• positive regulation of stem cell differentiation
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• response to insulin
• response to mechanical stimulus

Molecular functions

• DEAD/H-box RNA helicase binding
• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• zinc ion binding

Cellular components

• chromatin
• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• Zinc finger, C2H2 type

KeywordsUniProt

• Activator
• DNA-binding
• Isopeptide bond
• Metal-binding
• Nucleus
• Osteogenesis imperfecta
• Repeat
• Transcription
• Transcription regulation
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of SP7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RIOX1
• DHX9
• NFIC