Gene: Sp8

Basic information

Tag Content
Uniprot ID Q8BMJ8; Q8BWA3;
Entrez ID 320145
Genbank protein ID BAC27113.1; BAC35264.1;
Genbank nucleotide ID XM_006515984.3; XM_006515986.3; XM_006515985.3; XM_006515983.3; XM_006515987.3; XM_006515988.3; XM_011244124.2; NM_177082.4;
Ensembl protein ID ENSMUSP00000065746
Ensembl nucleotide ID ENSMUSG00000048562
Gene name Transcription factor Sp8
Gene symbol Sp8
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO,CLO
Developmental stage
Data sources Manually collected
Reference 14597661; 23872235;
Functional description Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos.
Sequence
MLAATCNKIG SPSPSPSSLS DSSSSFGKGF HPWKRSSSSS SGSCNVVGSS LSSFGVSGAS 60
RNGGSSSAAA AAAAAAAAAA ALVSDSFSCG GSPGSSAFSL TSSSAAAAAA AAAAAASSSP 120
FANDYSVFQA PGVSGGSGGG GGGGGGGSGA HSQDSSHQPV FISKVHTSVD GLQGIYPRVG 180
MAHPYESWFK PSHPGLGAAA DVGSAGASSW WDVGAGWIDV QNPNGAAALP GSLHPAAGGL 240
QTSLHSPLGG YNSDYSGLSH SAFSSGASSH LLSPAGQHLM DGFKPVLPGS YPDSAPSPLA 300
GAGSSMLSAG PAAQLGGSPR SSARRYSGRA TCDCPNCQEA ERLGPAGASL RRKGLHSCHI 360
PGCGKVYGKT SHLKAHLRWH TGERPFVCNW LFCGKRFTRS DELQRHLRTH TGEKRFACPV 420
CNKRFMRSDH LSKHVKTHSG GGGSAGSGGG KKGSDTDSEH SAAGSPPCHS PELLQPPEPG 480
HRNGLE 486

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSP8102177029A0A452E4Z3Capra hircusPredictionMore>>
1:1 orthologSP8221833Q8IXZ3Homo sapiensPredictionMore>>
1:1 orthologSp8320145Q8BMJ8CPO,CLOMus musculusPublicationMore>>
1:1 orthologSP8472642H2RBQ2Pan troglodytesPredictionMore>>
1:1 orthologSp8299499D3ZQL2Rattus norvegicusPredictionMore>>
1:1 orthologsp8b324931Q6P0J3Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0003677 DNA bindingISS
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0009953 dorsal/ventral pattern formationIMP
GO:0009954 proximal/distal pattern formationIMP
GO:0030326 embryonic limb morphogenesisIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusIBA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0238 DNA-binding
KW-0479 Metal-binding
KW-0539 Nucleus
KW-1185 Reference proteome
KW-0677 Repeat
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR036236 Znf_C2H2_sf
IPR013087 Znf_C2H2_type

PROSITE

PROSITE ID PROSITE Term
PS00028 ZINC_FINGER_C2H2_1
PS50157 ZINC_FINGER_C2H2_2

Pfam

Pfam ID Pfam Term
PF00096 zf-C2H2

Protein-miRNA interaction