SP8_HUMAN
ID SP8_HUMAN Reviewed; 490 AA.
AC Q8IXZ3; Q7Z615; Q7Z616; Q96MJ1;
DT 16-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 3.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Transcription factor Sp8;
DE AltName: Full=Specificity protein 8;
GN Name=SP8;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), AND ALTERNATIVE SPLICING.
RX PubMed=15533246; DOI=10.1186/1471-2164-5-86;
RA Milona M.-A., Gough J.E., Edgar A.J.;
RT "Genomic structure and cloning of two transcript isoforms of human Sp8.";
RL BMC Genomics 5:86-86(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Prostate;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP 9AATAD MOTIF.
RX PubMed=31375868; DOI=10.1007/s00018-019-03251-w;
RA Piskacek M., Havelka M., Jendruchova K., Knight A., Keegan L.P.;
RT "The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with
RT valines and intron reservoirs.";
RL Cell. Mol. Life Sci. 77:1793-1810(2020).
CC -!- FUNCTION: Transcription factor which plays a key role in limb
CC development. Positively regulates FGF8 expression in the apical
CC ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By
CC similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=3;
CC IsoId=Q8IXZ3-3; Sequence=Displayed;
CC Name=1;
CC IsoId=Q8IXZ3-1; Sequence=VSP_011036;
CC Name=2;
CC IsoId=Q8IXZ3-2; Sequence=VSP_007441;
CC Name=4; Synonyms=Sp8L;
CC IsoId=Q8IXZ3-4; Sequence=VSP_044094;
CC -!- DOMAIN: The 9aaTAD motif is a transactivation domain present in a large
CC number of yeast and animal transcription factors.
CC {ECO:0000269|PubMed:31375868}.
CC -!- SIMILARITY: Belongs to the Sp1 C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB71297.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY167047; AAO38028.1; -; mRNA.
DR EMBL; AY167048; AAO38029.1; -; mRNA.
DR EMBL; AK056857; BAB71297.1; ALT_INIT; mRNA.
DR EMBL; CH471073; EAW93731.1; -; Genomic_DNA.
DR EMBL; BC038669; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS43555.1; -. [Q8IXZ3-4]
DR CCDS; CCDS5372.1; -. [Q8IXZ3-3]
DR RefSeq; NP_874359.2; NM_182700.5. [Q8IXZ3-4]
DR RefSeq; NP_945194.1; NM_198956.3. [Q8IXZ3-3]
DR AlphaFoldDB; Q8IXZ3; -.
DR SMR; Q8IXZ3; -.
DR BioGRID; 128760; 3.
DR IntAct; Q8IXZ3; 5.
DR MINT; Q8IXZ3; -.
DR STRING; 9606.ENSP00000408792; -.
DR iPTMnet; Q8IXZ3; -.
DR PhosphoSitePlus; Q8IXZ3; -.
DR BioMuta; SP8; -.
DR DMDM; 300669678; -.
DR EPD; Q8IXZ3; -.
DR jPOST; Q8IXZ3; -.
DR MassIVE; Q8IXZ3; -.
DR MaxQB; Q8IXZ3; -.
DR PaxDb; Q8IXZ3; -.
DR PeptideAtlas; Q8IXZ3; -.
DR PRIDE; Q8IXZ3; -.
DR ProteomicsDB; 71080; -. [Q8IXZ3-3]
DR ProteomicsDB; 71081; -. [Q8IXZ3-1]
DR ProteomicsDB; 71082; -. [Q8IXZ3-2]
DR Antibodypedia; 53277; 68 antibodies from 15 providers.
DR DNASU; 221833; -.
DR Ensembl; ENST00000361443.4; ENSP00000354482.4; ENSG00000164651.18. [Q8IXZ3-3]
DR Ensembl; ENST00000418710.3; ENSP00000408792.2; ENSG00000164651.18. [Q8IXZ3-4]
DR GeneID; 221833; -.
DR KEGG; hsa:221833; -.
DR MANE-Select; ENST00000418710.3; ENSP00000408792.2; NM_182700.6; NP_874359.2. [Q8IXZ3-4]
DR UCSC; uc022aak.3; human. [Q8IXZ3-3]
DR CTD; 221833; -.
DR DisGeNET; 221833; -.
DR GeneCards; SP8; -.
DR HGNC; HGNC:19196; SP8.
DR HPA; ENSG00000164651; Group enriched (brain, prostate).
DR MIM; 608306; gene.
DR neXtProt; NX_Q8IXZ3; -.
DR OpenTargets; ENSG00000164651; -.
DR PharmGKB; PA134893390; -.
DR VEuPathDB; HostDB:ENSG00000164651; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00940000162033; -.
DR HOGENOM; CLU_019484_4_2_1; -.
DR InParanoid; Q8IXZ3; -.
DR OMA; MYSRHPY; -.
DR PhylomeDB; Q8IXZ3; -.
DR TreeFam; TF350150; -.
DR PathwayCommons; Q8IXZ3; -.
DR SignaLink; Q8IXZ3; -.
DR BioGRID-ORCS; 221833; 20 hits in 1094 CRISPR screens.
DR GeneWiki; Sp8_transcription_factor; -.
DR GenomeRNAi; 221833; -.
DR Pharos; Q8IXZ3; Tbio.
DR PRO; PR:Q8IXZ3; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q8IXZ3; protein.
DR Bgee; ENSG00000164651; Expressed in pancreatic ductal cell and 60 other tissues.
DR ExpressionAtlas; Q8IXZ3; baseline and differential.
DR Genevisible; Q8IXZ3; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0009953; P:dorsal/ventral pattern formation; IEA:Ensembl.
DR GO; GO:0030326; P:embryonic limb morphogenesis; IEA:Ensembl.
DR GO; GO:0009954; P:proximal/distal pattern formation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 2.
DR SMART; SM00355; ZnF_C2H2; 3.
DR SUPFAM; SSF57667; SSF57667; 2.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 3.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 3.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..490
FT /note="Transcription factor Sp8"
FT /id="PRO_0000047152"
FT ZN_FING 314..338
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 344..368
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 374..396
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..47
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 136..156
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 294..324
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 431..490
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 208..216
FT /note="9aaTAD"
FT /evidence="ECO:0000269|PubMed:31375868"
FT COMPBIAS 8..47
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MATSLLGEEPRLGSTPLAM (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15533246"
FT /id="VSP_044094"
FT VAR_SEQ 92..147
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_007441"
FT VAR_SEQ 104..145
FT /note="Missing (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_011036"
FT CONFLICT 430
FT /note="H -> R (in Ref. 4; BC038669)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 490 AA; 48674 MW; 8FB659057C6F8E58 CRC64;
MLAATCNKIG SPSPSPSSLS DSSSSFGKGF HPWKRSSSSS SASCNVVGSS LSSFGVSGAS
RNGGSSSAAA AAAAAAAAAA ALVSDSFSCG GSPGSSAFSL TSSSAAAAAA AAAAAASSSP
FANDYSVFQA PGVSGGSGGG GGGGGGGSSA HSQDGSHQPV FISKVHTSVD GLQGIYPRVG
MAHPYESWFK PSHPGLGAAG EVGSAGASSW WDVGAGWIDV QNPNSAAALP GSLHPAAGGL
QTSLHSPLGG YNSDYSGLSH SAFSSGASSH LLSPAGQHLM DGFKPVLPGS YPDSAPSPLA
GAGGSMLSAG PSAPLGGSPR SSARRYSGRA TCDCPNCQEA ERLGPAGASL RRKGLHSCHI
PGCGKVYGKT SHLKAHLRWH TGERPFVCNW LFCGKRFTRS DELQRHLRTH TGEKRFACPV
CNKRFMRSDH LSKHVKTHSG GGGGGGSAGS GSGGKKGSDT DSEHSAAGSP PCHSPELLQP
PEPGHRNGLE
