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Q8TDD2 (SP7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor Sp7
Alternative name(s):
Zinc finger protein osterix
Gene names
Name:SP7
Synonyms:OSX
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length431 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional activator essential for osteoblast differentiation. Binds to SP1 and EKLF consensus sequences and to other G/C-rich sequences By similarity.

Subunit structure

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

Subcellular location

Nucleus By similarity.

Tissue specificity

Restricted to bone-derived cell. Ref.3

Involvement in disease

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. Ref.8

Sequence similarities

Belongs to the Sp1 C2H2-type zinc-finger protein family.

Contains 3 C2H2-type zinc fingers.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TDD2-1)

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.
Isoform 2 (identifier: Q8TDD2-2)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 431431Transcription factor Sp7
PRO_0000047150

Regions

Zinc finger294 – 31825C2H2-type 1
Zinc finger324 – 34825C2H2-type 2
Zinc finger354 – 37623C2H2-type 3

Natural variations

Alternative sequence1 – 1818Missing in isoform 2.
VSP_047639

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (alpha) (long) [UniParc].

Last modified June 1, 2002. Version 1.
Checksum: 454A6FEA84309FF9

FASTA43144,994
        10         20         30         40         50         60 
MASSLLEEEV HYGSSPLAML TAACSKFGGS SPLRDSTTLG KAGTKKPYSV GSDLSASKTM 

        70         80         90        100        110        120 
GDAYPAPFTS TNGLLSPAGS PPAPTSGYAN DYPPFSHSFP GPTGTQDPGL LVPKGHSSSD 

       130        140        150        160        170        180 
CLPSVYTSLD MTHPYGSWYK AGIHAGISPG PGNTPTPWWD MHPGGNWLGG GQGQGDGLQG 

       190        200        210        220        230        240 
TLPTGPAQPP LNPQLPTYPS DFAPLNPAPY PAPHLLQPGP QHVLPQDVYK PKAVGNSGQL 

       250        260        270        280        290        300 
EGSGGAKPPR GASTGGSGGY GGSGAGRSSC DCPNCQELER LGAAAAGLRK KPIHSCHIPG 

       310        320        330        340        350        360 
CGKVYGKASH LKAHLRWHTG ERPFVCNWLF CGKRFTRSDE LERHVRTHTR EKKFTCLLCS 

       370        380        390        400        410        420 
KRFTRSDHLS KHQRTHGEPG PGPPPSGPKE LGEGRSTGEE EASQTPRPSA SPATPEKAPG 

       430 
GSPEQSNLLE I 

« Hide

Isoform 2 (beta) (short) [UniParc].

Checksum: FD6F791FFDCB7073
Show »

FASTA41343,092

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS44897.1. [Q8TDD2-1]
RefSeqNP_001166938.1. NM_001173467.1. [Q8TDD2-1]
NP_690599.1. NM_152860.1. [Q8TDD2-1]
XP_005268700.1. XM_005268643.2. [Q8TDD2-2]
UniGeneHs.209402.

3D structure databases

ProteinModelPortalQ8TDD2.
SMRQ8TDD2. Positions 269-407.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125723. 1 interaction.
STRING9606.ENSP00000302812.

PTM databases

PhosphoSiteQ8TDD2.

Polymorphism databases

DMDM30913318.

Proteomic databases

MaxQBQ8TDD2.
PaxDbQ8TDD2.
PRIDEQ8TDD2.

Protocols and materials databases

DNASU121340.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303846; ENSP00000302812; ENSG00000170374. [Q8TDD2-1]
ENST00000536324; ENSP00000443827; ENSG00000170374. [Q8TDD2-1]
ENST00000537210; ENSP00000441367; ENSG00000170374. [Q8TDD2-2]
GeneID121340.
KEGGhsa:121340.
UCSCuc001sct.3. human. [Q8TDD2-1]

Organism-specific databases

CTD121340.
GeneCardsGC12M053721.
HGNCHGNC:17321. SP7.
HPACAB005874.
MIM606633. gene.
613849. phenotype.
neXtProtNX_Q8TDD2.
Orphanet216820. Osteogenesis imperfecta type 4.
PharmGKBPA134917046.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5048.
HOGENOMHOG000231067.
HOVERGENHBG036899.
InParanoidQ8TDD2.
KOK09197.
OMAPKTMGDA.
OrthoDBEOG73FQMR.
PhylomeDBQ8TDD2.
TreeFamTF350150.

Gene expression databases

BgeeQ8TDD2.
CleanExHS_SP7.
GenevestigatorQ8TDD2.

Family and domain databases

Gene3D3.30.160.60. 3 hits.
InterProIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTSM00355. ZnF_C2H2. 3 hits.
[Graphical view]
PROSITEPS00028. ZINC_FINGER_C2H2_1. 3 hits.
PS50157. ZINC_FINGER_C2H2_2. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSp7_transcription_factor.
GenomeRNAi121340.
NextBio80718.
PROQ8TDD2.
SOURCESearch...

Entry information

Entry nameSP7_HUMAN
AccessionPrimary (citable) accession number: Q8TDD2
Secondary accession number(s): B3KY26, Q3MJ72, Q7Z718
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2003
Last sequence update: June 1, 2002
Last modified: July 9, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM