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Protein

Transcription factor Sp7

Gene

SP7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Transcriptional activator essential for osteoblast differentiation (PubMed:23457570). Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences (By similarity).By similarity1 Publication
Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences.By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri294 – 318C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri324 – 348C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri354 – 376C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

GO - Molecular functioni

GO - Biological processi

  • hematopoietic stem cell differentiation Source: BHF-UCL
  • osteoblast differentiation Source: BHF-UCL
  • positive regulation of stem cell differentiation Source: BHF-UCL
  • positive regulation of transcription by RNA polymerase II Source: BHF-UCL
  • regulation of transcription by RNA polymerase II Source: BHF-UCL

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-8940973 RUNX2 regulates osteoblast differentiation
SIGNORiQ8TDD2

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor Sp7
Alternative name(s):
Zinc finger protein osterix
Gene namesi
Name:SP7
Synonyms:OSX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000170374.5
HGNCiHGNC:17321 SP7
MIMi606633 gene
neXtProtiNX_Q8TDD2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 12 (OI12)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI12 is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, no dentinogenesis imperfecta, normal hearing, and white sclerae.
See also OMIM:613849

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi58K → R: Enhances osteogenic differentiation in C2C12 cells. 1 Publication1
Mutagenesisi230K → R: Enhances osteogenic differentiation in C2C12 cells. 1 Publication1

Keywords - Diseasei

Osteogenesis imperfecta

Organism-specific databases

DisGeNETi121340
MalaCardsiSP7
MIMi613849 phenotype
OpenTargetsiENSG00000170374
Orphaneti216820 Osteogenesis imperfecta type 4
PharmGKBiPA134917046

Polymorphism and mutation databases

BioMutaiSP7
DMDMi30913318

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000471501 – 431Transcription factor Sp7Add BLAST431

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki58Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki230Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication

Post-translational modificationi

Ubiquitination at leads to proteasomal degradation. SP7 is a short-live protein with an endogenous half-life of approximately 12 hours.1 Publication

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ8TDD2
PaxDbiQ8TDD2
PeptideAtlasiQ8TDD2
PRIDEiQ8TDD2
ProteomicsDBi74269

PTM databases

iPTMnetiQ8TDD2
PhosphoSitePlusiQ8TDD2

Expressioni

Tissue specificityi

Restricted to bone-derived cell.1 Publication

Gene expression databases

BgeeiENSG00000170374
CleanExiHS_SP7
ExpressionAtlasiQ8TDD2 baseline and differential
GenevisibleiQ8TDD2 HS

Organism-specific databases

HPAiHPA029964
HPA063202

Interactioni

Subunit structurei

Interacts with RIOX1; the interaction is direct and inhibits transcription activator activity.By similarity

GO - Molecular functioni

  • DEAD/H-box RNA helicase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi125723, 4 interactors
IntActiQ8TDD2, 6 interactors
MINTiQ8TDD2
STRINGi9606.ENSP00000302812

Structurei

3D structure databases

ProteinModelPortaliQ8TDD2
SMRiQ8TDD2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri294 – 318C2H2-type 1PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri324 – 348C2H2-type 2PROSITE-ProRule annotationAdd BLAST25
Zinc fingeri354 – 376C2H2-type 3PROSITE-ProRule annotationAdd BLAST23

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00760000118984
HOGENOMiHOG000231067
HOVERGENiHBG036899
InParanoidiQ8TDD2
KOiK09197
OMAiEEAHYGS
OrthoDBiEOG091G0HX6
PhylomeDBiQ8TDD2
TreeFamiTF350150

Family and domain databases

InterProiView protein in InterPro
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type
SMARTiView protein in SMART
SM00355 ZnF_C2H2, 3 hits
SUPFAMiSSF57667 SSF57667, 2 hits
PROSITEiView protein in PROSITE
PS00028 ZINC_FINGER_C2H2_1, 3 hits
PS50157 ZINC_FINGER_C2H2_2, 3 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TDD2-1) [UniParc]FASTAAdd to basket
Also known as: alpha, long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASSLLEEEV HYGSSPLAML TAACSKFGGS SPLRDSTTLG KAGTKKPYSV
60 70 80 90 100
GSDLSASKTM GDAYPAPFTS TNGLLSPAGS PPAPTSGYAN DYPPFSHSFP
110 120 130 140 150
GPTGTQDPGL LVPKGHSSSD CLPSVYTSLD MTHPYGSWYK AGIHAGISPG
160 170 180 190 200
PGNTPTPWWD MHPGGNWLGG GQGQGDGLQG TLPTGPAQPP LNPQLPTYPS
210 220 230 240 250
DFAPLNPAPY PAPHLLQPGP QHVLPQDVYK PKAVGNSGQL EGSGGAKPPR
260 270 280 290 300
GASTGGSGGY GGSGAGRSSC DCPNCQELER LGAAAAGLRK KPIHSCHIPG
310 320 330 340 350
CGKVYGKASH LKAHLRWHTG ERPFVCNWLF CGKRFTRSDE LERHVRTHTR
360 370 380 390 400
EKKFTCLLCS KRFTRSDHLS KHQRTHGEPG PGPPPSGPKE LGEGRSTGEE
410 420 430
EASQTPRPSA SPATPEKAPG GSPEQSNLLE I
Length:431
Mass (Da):44,994
Last modified:June 1, 2002 - v1
Checksum:i454A6FEA84309FF9
GO
Isoform 2 (identifier: Q8TDD2-2) [UniParc]FASTAAdd to basket
Also known as: beta, short

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: Missing.

Note: Generally expressed at much higher level than isoform 1.
Show »
Length:413
Mass (Da):43,092
Checksum:iFD6F791FFDCB7073
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0476391 – 18Missing in isoform 2. 1 PublicationAdd BLAST18

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF466179 mRNA Translation: AAO33377.1
AY150673 mRNA Translation: AAN85556.1
AY150674 mRNA Translation: AAN85557.1
AF477981 mRNA Translation: AAL84281.1
AK128520 mRNA Translation: BAG54688.1
AC073611 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW96695.1
CH471054 Genomic DNA Translation: EAW96697.1
BC101549 mRNA Translation: AAI01550.1
BC113613 mRNA Translation: AAI13614.1
CCDSiCCDS44897.1 [Q8TDD2-1]
CCDS73475.1 [Q8TDD2-2]
RefSeqiNP_001166938.1, NM_001173467.2 [Q8TDD2-1]
NP_001287766.1, NM_001300837.1 [Q8TDD2-2]
NP_690599.1, NM_152860.1 [Q8TDD2-1]
XP_011536202.1, XM_011537900.2 [Q8TDD2-2]
UniGeneiHs.209402
Hs.742807

Genome annotation databases

EnsembliENST00000303846; ENSP00000302812; ENSG00000170374 [Q8TDD2-1]
ENST00000536324; ENSP00000443827; ENSG00000170374 [Q8TDD2-1]
ENST00000537210; ENSP00000441367; ENSG00000170374 [Q8TDD2-2]
GeneIDi121340
KEGGihsa:121340
UCSCiuc001sct.4 human [Q8TDD2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSP7_HUMAN
AccessioniPrimary (citable) accession number: Q8TDD2
Secondary accession number(s): B3KY26, Q3MJ72, Q7Z718
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: June 1, 2002
Last modified: June 20, 2018
This is version 140 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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