Q8TDD2 (SP7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor Sp7

Alternative name(s):
Zinc finger protein osterix

Gene names

Name:	SP7
Synonyms:	OSX

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	431 AA.
Sequence status	Complete.
Protein existence	Evidence 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 11 (OI11) [MIM:613849]: A connective tissue disorder characterized by bone fragility, low bone mass, 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.7
Sequence similarities	Belongs to the Sp1 C2H2-type zinc-finger protein family. Contains 3 C2H2-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Osteogenesis imperfecta
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	hematopoietic stem cell differentiation Inferred from direct assay PubMed 18932205. Source: BHF-UCL osteoblast differentiation Inferred from direct assay PubMed 18932205. Source: BHF-UCL positive regulation of stem cell differentiation Inferred from direct assay PubMed 18932205. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 18932205. Source: BHF-UCL transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	cytoplasm Inferred from direct assay PubMed 18471237. Source: BHF-UCL nucleus Inferred from direct assay PubMed 18471237. Source: BHF-UCL
Molecular_function	DEAD/H-box RNA helicase binding Inferred from sequence or structural similarity PubMed 17303075. Source: BHF-UCL DNA binding Inferred from sequence or structural similarity Ref.1. Source: BHF-UCL zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 431	431	Transcription factor Sp7		PRO_0000047150
Regions
	Zinc finger	294 – 318	25	C2H2-type 1
	Zinc finger	324 – 348	25	C2H2-type 2
	Zinc finger	354 – 376	23	C2H2-type 3

Sequences

	Sequence		Length	Mass (Da)
	Q8TDD2 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: 454A6FEA84309FF9	FASTA	431	44,994
	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

References

	« Hide 'large scale' referencesShow '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].
[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].
[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], 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]. Tissue: Trachea.
[5]	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. , 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].
[6]	"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]. Tissue: Placenta.
[7]	"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 OI11.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF466179 mRNA. Translation: AAO33377.1. AY150673 mRNA. Translation: AAN85556.1. AF477981 mRNA. Translation: AAL84281.1. AK128520 mRNA. Translation: BAG54688.1. CH471054 Genomic DNA. Translation: EAW96697.1. BC101549 mRNA. Translation: AAI01550.1. BC113613 mRNA. Translation: AAI13614.1.
IPI	IPI00152511.
RefSeq	NP_001166938.1. NM_001173467.1. NP_690599.1. NM_152860.1.
UniGene	Hs.209402.
3D structure databases
ProteinModelPortal	Q8TDD2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000302812.
PTM databases
PhosphoSite	Q8TDD2.
Polymorphism databases
DMDM	30913318.
Proteomic databases
PaxDb	Q8TDD2.
PRIDE	Q8TDD2.
Protocols and materials databases
DNASU	121340.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303846; ENSP00000302812; ENSG00000170374. ENST00000536324; ENSP00000443827; ENSG00000170374.
GeneID	121340.
KEGG	hsa:121340.
UCSC	uc001sct.3. human.
Organism-specific databases
CTD	121340.
GeneCards	GC12M053721.
HGNC	HGNC:17321. SP7.
HPA	CAB005874.
MIM	606633. gene. 613849. phenotype.
neXtProt	NX_Q8TDD2.
Orphanet	216820. Osteogenesis imperfecta type 4.
PharmGKB	PA134917046.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOGENOM	HOG000231067.
HOVERGEN	HBG036899.
InParanoid	Q8TDD2.
KO	K09197.
OMA	YPAPFSS.
OrthoDB	EOG4FTW0R.
Gene expression databases
ArrayExpress	Q8TDD2.
Bgee	Q8TDD2.
CleanEx	HS_SP7.
Genevestigator	Q8TDD2.
GermOnline	ENSG00000170374. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 3 hits.
InterPro	IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
SMART	SM00355. ZnF_C2H2. 3 hits. [Graphical view]
PROSITE	PS00028. ZINC_FINGER_C2H2_1. 3 hits. PS50157. ZINC_FINGER_C2H2_2. 3 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	121340.
NextBio	80718.
SOURCE	Search...

Entry information

Entry name

SP7_HUMAN

Accession

Primary (citable) accession number: Q8TDD2
Secondary accession number(s): B3KY26, Q3MJ72

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2003
Last sequence update:	June 1, 2002
Last modified:	May 1, 2013
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.