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Q8TDD2

- SP7_HUMAN

UniProt

Q8TDD2 - SP7_HUMAN

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Protein
Transcription factor Sp7
Gene
SP7, OSX
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri294 – 31825C2H2-type 1
Add
BLAST
Zinc fingeri324 – 34825C2H2-type 2
Add
BLAST
Zinc fingeri354 – 37623C2H2-type 3
Add
BLAST

GO - Molecular functioni

  1. DEAD/H-box RNA helicase binding Source: BHF-UCL
  2. DNA binding Source: BHF-UCL
  3. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. hematopoietic stem cell differentiation Source: BHF-UCL
  2. osteoblast differentiation Source: BHF-UCL
  3. positive regulation of stem cell differentiation Source: BHF-UCL
  4. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  5. regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  6. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

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
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:17321. SP7.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. cytoplasm Source: BHF-UCL
  2. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 12 (OI12) [MIM:613849]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi58 – 581K → R: Enhances osteogenic differentiation in C2C12 cells.
Mutagenesisi230 – 2301K → R: Enhances osteogenic differentiation in C2C12 cells.

Keywords - Diseasei

Osteogenesis imperfecta

Organism-specific databases

MIMi613849. phenotype.
Orphaneti216820. Osteogenesis imperfecta type 4.
PharmGKBiPA134917046.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 431431Transcription factor Sp7
PRO_0000047150Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki58 – 58Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross-linki230 – 230Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)

Post-translational modificationi

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

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiQ8TDD2.
PaxDbiQ8TDD2.
PRIDEiQ8TDD2.

PTM databases

PhosphoSiteiQ8TDD2.

Expressioni

Tissue specificityi

Restricted to bone-derived cell.1 Publication

Gene expression databases

BgeeiQ8TDD2.
CleanExiHS_SP7.
GenevestigatoriQ8TDD2.

Organism-specific databases

HPAiCAB005874.

Interactioni

Subunit structurei

Interacts with NO66/C14orf169; the interaction is direct and inhibits transcription activator activity By similarity.

Protein-protein interaction databases

BioGridi125723. 1 interaction.
STRINGi9606.ENSP00000302812.

Structurei

3D structure databases

ProteinModelPortaliQ8TDD2.
SMRiQ8TDD2. Positions 269-407.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG5048.
HOGENOMiHOG000231067.
HOVERGENiHBG036899.
InParanoidiQ8TDD2.
KOiK09197.
OMAiPKTMGDA.
OrthoDBiEOG73FQMR.
PhylomeDBiQ8TDD2.
TreeFamiTF350150.

Family and domain databases

Gene3Di3.30.160.60. 3 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MASSLLEEEV HYGSSPLAML TAACSKFGGS SPLRDSTTLG KAGTKKPYSV    50
GSDLSASKTM GDAYPAPFTS TNGLLSPAGS PPAPTSGYAN DYPPFSHSFP 100
GPTGTQDPGL LVPKGHSSSD CLPSVYTSLD MTHPYGSWYK AGIHAGISPG 150
PGNTPTPWWD MHPGGNWLGG GQGQGDGLQG TLPTGPAQPP LNPQLPTYPS 200
DFAPLNPAPY PAPHLLQPGP QHVLPQDVYK PKAVGNSGQL EGSGGAKPPR 250
GASTGGSGGY GGSGAGRSSC DCPNCQELER LGAAAAGLRK KPIHSCHIPG 300
CGKVYGKASH LKAHLRWHTG ERPFVCNWLF CGKRFTRSDE LERHVRTHTR 350
EKKFTCLLCS KRFTRSDHLS KHQRTHGEPG PGPPPSGPKE LGEGRSTGEE 400
EASQTPRPSA SPATPEKAPG GSPEQSNLLE I 431
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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1818Missing in isoform 2.
VSP_047639Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
RefSeqiNP_001166938.1. NM_001173467.1. [Q8TDD2-1]
NP_690599.1. NM_152860.1. [Q8TDD2-1]
XP_005268700.1. XM_005268643.2. [Q8TDD2-2]
UniGeneiHs.209402.

Genome annotation databases

EnsembliENST00000303846; ENSP00000302812; ENSG00000170374. [Q8TDD2-1]
ENST00000536324; ENSP00000443827; ENSG00000170374. [Q8TDD2-1]
ENST00000537210; ENSP00000441367; ENSG00000170374. [Q8TDD2-2]
GeneIDi121340.
KEGGihsa:121340.
UCSCiuc001sct.3. human. [Q8TDD2-1]

Polymorphism databases

DMDMi30913318.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS44897.1. [Q8TDD2-1 ]
RefSeqi NP_001166938.1. NM_001173467.1. [Q8TDD2-1 ]
NP_690599.1. NM_152860.1. [Q8TDD2-1 ]
XP_005268700.1. XM_005268643.2. [Q8TDD2-2 ]
UniGenei Hs.209402.

3D structure databases

ProteinModelPortali Q8TDD2.
SMRi Q8TDD2. Positions 269-407.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125723. 1 interaction.
STRINGi 9606.ENSP00000302812.

PTM databases

PhosphoSitei Q8TDD2.

Polymorphism databases

DMDMi 30913318.

Proteomic databases

MaxQBi Q8TDD2.
PaxDbi Q8TDD2.
PRIDEi Q8TDD2.

Protocols and materials databases

DNASUi 121340.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303846 ; ENSP00000302812 ; ENSG00000170374 . [Q8TDD2-1 ]
ENST00000536324 ; ENSP00000443827 ; ENSG00000170374 . [Q8TDD2-1 ]
ENST00000537210 ; ENSP00000441367 ; ENSG00000170374 . [Q8TDD2-2 ]
GeneIDi 121340.
KEGGi hsa:121340.
UCSCi uc001sct.3. human. [Q8TDD2-1 ]

Organism-specific databases

CTDi 121340.
GeneCardsi GC12M053721.
HGNCi HGNC:17321. SP7.
HPAi CAB005874.
MIMi 606633. gene.
613849. phenotype.
neXtProti NX_Q8TDD2.
Orphaneti 216820. Osteogenesis imperfecta type 4.
PharmGKBi PA134917046.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5048.
HOGENOMi HOG000231067.
HOVERGENi HBG036899.
InParanoidi Q8TDD2.
KOi K09197.
OMAi PKTMGDA.
OrthoDBi EOG73FQMR.
PhylomeDBi Q8TDD2.
TreeFami TF350150.

Miscellaneous databases

GeneWikii Sp7_transcription_factor.
GenomeRNAii 121340.
NextBioi 80718.
PROi Q8TDD2.
SOURCEi Search...

Gene expression databases

Bgeei Q8TDD2.
CleanExi HS_SP7.
Genevestigatori Q8TDD2.

Family and domain databases

Gene3Di 3.30.160.60. 3 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 3 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation."
    Nakashima K., Zhou X., Kunkel G., Zhang Z., Deng J.M., Behringer R.R., de Crombrugghe B.
    Cell 108:17-29(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells."
    Milona M.-A., Gough J.E., Edgar A.J.
    BMC Genomics 4:43-43(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  3. "Molecular cloning, structure, expression, and chromosomal localization of the human Osterix (SP7) gene."
    Gao Y., Jheon A., Nourkeyhani H., Kobayashi H., Ganss B.
    Gene 341:101-110(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Osteosarcoma.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Trachea.
  5. "The finished DNA sequence of human chromosome 12."
    Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
    , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
    Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  8. "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta."
    Lapunzina P., Aglan M., Temtamy S., Caparros-Martin J.A., Valencia M., Leton R., Martinez-Glez V., Elhossini R., Amr K., Vilaboa N., Ruiz-Perez V.L.
    Am. J. Hum. Genet. 87:110-114(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN OI12.
  9. "Characterization of Osterix protein stability and physiological role in osteoblast differentiation."
    Peng Y., Shi K., Wang L., Lu J., Li H., Pan S., Ma C.
    PLoS ONE 8:E56451-E56451(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, UBIQUITINATION AT LYS-58 AND LYS-230, MUTAGENESIS OF LYS-58 AND LYS-230.

Entry informationi

Entry nameiSP7_HUMAN
AccessioniPrimary (citable) accession number: Q8TDD2
Secondary accession number(s): B3KY26, Q3MJ72, Q7Z718
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: June 1, 2002
Last modified: September 3, 2014
This is version 106 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi