Q93074 (MED12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mediator of RNA polymerase II transcription subunit 12

Alternative name(s):
Activator-recruited cofactor 240 kDa component
Short name=ARC240
CAG repeat protein 45
Mediator complex subunit 12
OPA-containing protein
Thyroid hormone receptor-associated protein complex 230 kDa component
Short name=Trap230
Trinucleotide repeat-containing gene 11 protein

Gene names

Name:	MED12
Synonyms:	ARC240, CAGH45, HOPA, KIAA0192, TNRC11, TRAP230

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	2177 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. This subunit may specifically regulate transcription of targets of the Wnt signaling pathway and SHH signaling pathway. Ref.12 Ref.13 Ref.14
Subunit structure	Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Also interacts with CTNNB1 and GLI3. Ref.1 Ref.6 Ref.8 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14
Subcellular location	Nucleus Probable.
Tissue specificity	Ubiquitous. Ref.1
Involvement in disease	Opitz-Kaveggia syndrome (OKS) [MIM:305450]: X-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21 Lujan-Fryns syndrome (LUJFRYS) [MIM:309520]: Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.20
Sequence similarities	Belongs to the Mediator complex subunit 12 family.
Sequence caution	The sequence AAD22033.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Mental retardation
Molecular function	Activator Repressor
PTM	Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	Wnt receptor signaling pathway, planar cell polarity pathway Inferred from electronic annotation. Source: Compara androgen receptor signaling pathway Inferred from direct assay PubMed 12218053. Source: UniProtKB axis elongation involved in somitogenesis Inferred from electronic annotation. Source: Compara canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara heart development Inferred from electronic annotation. Source: Compara negative regulation of Wnt receptor signaling pathway Inferred from mutant phenotype Ref.14. Source: UniProtKB neural tube closure Inferred from electronic annotation. Source: Compara positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 12037571. Source: MGI stem cell maintenance Inferred from electronic annotation. Source: Compara transcription initiation from RNA polymerase II promoter Inferred from direct assay PubMed 12218053. Source: UniProtKB
Cellular_component	mediator complex Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	RNA polymerase II transcription cofactor activity Inferred from direct assay Ref.1. Source: UniProtKB chromatin binding Inferred from electronic annotation. Source: Compara ligand-dependent nuclear receptor transcription coactivator activity Non-traceable author statement Ref.6. Source: UniProtKB receptor activity Inferred from direct assay PubMed 12218053. Source: UniProtKB thyroid hormone receptor binding Inferred from direct assay Ref.1. Source: UniProtKB vitamin D receptor binding Non-traceable author statement Ref.6. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q93074-1)

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: Q93074-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1916-1916: Q → QAKI

Isoform 3 (identifier: Q93074-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1916-1916: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2177	2177	Mediator of RNA polymerase II transcription subunit 12		PRO_0000096359
Regions
	Region	1616 – 2051	436	Interaction with CTNNB1 and GLI3
	Compositional bias	1732 – 1777	46	Pro-rich
	Compositional bias	1900 – 2168	269	Gln-rich
Amino acid modifications
	Modified residue	166	1	Phosphotyrosine Ref.16
	Modified residue	635	1	Phosphoserine Ref.11 Ref.15 Ref.17 Ref.18
	Modified residue	1258	1	Phosphoserine Ref.15 Ref.17
	Modified residue	1269	1	Phosphoserine Ref.17
Natural variations
	Alternative sequence	1916	1	Q → QAKI in isoform 2.		VSP_035520
	Alternative sequence	1916	1	Missing in isoform 3.		VSP_035521
	Natural variant	961	1	R → W in OKS. Ref.21		VAR_033112
	Natural variant	1007	1	N → S in LUJFRYS. Ref.20		VAR_037534
	Natural variant	1392	1	Q → R. Ref.1 Ref.3 Corresponds to variant rs1139013 [ dbSNP | Ensembl ].		VAR_046672
Experimental info
	Sequence conflict	16	1	R → RPR in AAD22033. Ref.1
	Sequence conflict	397	1	Missing AA sequence Ref.6
	Sequence conflict	1166	1	E → V in AAD44162. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 14, 2008. Version 4. Checksum: 7492B07BA0F6EA9D	FASTA	2,177	243,081
	10 20 30 40 50 60 MAAFGILSYE HRPLKRPRLG PPDVYPQDPK QKEDELTALN VKQGFNNQPA VSGDEHGSAK 70 80 90 100 110 120 NVSFNPAKIS SNFSSIIAEK LRCNTLPDTG RRKPQVNQKD NFWLVTARSQ SAINTWFTDL 130 140 150 160 170 180 AGTKPLTQLA KKVPIFSKKE EVFGYLAKYT VPVMRAAWLI KMTCAYYAAI SETKVKKRHV 190 200 210 220 230 240 DPFMEWTQII TKYLWEQLQK MAEYYRPGPA GSGGCGSTIG PLPHDVEVAI RQWDYTEKLA 250 260 270 280 290 300 MFMFQDGMLD RHEFLTWVLE CFEKIRPGED ELLKLLLPLL LRYSGEFVQS AYLSRRLAYF 310 320 330 340 350 360 CTRRLALQLD GVSSHSSHVI SAQSTSTLPT TPAPQPPTSS TPSTPFSDLL MCPQHRPLVF 370 380 390 400 410 420 GLSCILQTIL LCCPSALVWH YSLTDSRIKT GSPLDHLPIA PSNLPMPEGN SAFTQQVRAK 430 440 450 460 470 480 LREIEQQIKE RGQAVEVRWS FDKCQEATAG FTIGRVLHTL EVLDSHSFER SDFSNSLDSL 490 500 510 520 530 540 CNRIFGLGPS KDGHEISSDD DAVVSLLCEW AVSCKRSGRH RAMVVAKLLE KRQAEIEAER 550 560 570 580 590 600 CGESEAADEK GSIASGSLSA PSAPIFQDVL LQFLDTQAPM LTDPRSESER VEFFNLVLLF 610 620 630 640 650 660 CELIRHDVFS HNMYTCTLIS RGDLAFGAPG PRPPSPFDDP ADDPEHKEAE GSSSSKLEDP 670 680 690 700 710 720 GLSESMDIDP SSSVLFEDME KPDFSLFSPT MPCEGKGSPS PEKPDVEKEV KPPPKEKIEG 730 740 750 760 770 780 TLGVLYDQPR HVQYATHFPI PQEESCSHEC NQRLVVLFGV GKQRDDARHA IKKITKDILK 790 800 810 820 830 840 VLNRKGTAET DQLAPIVPLN PGDLTFLGGE DGQKRRRNRP EAFPTAEDIF AKFQHLSHYD 850 860 870 880 890 900 QHQVTAQVSR NVLEQITSFA LGMSYHLPLV QHVQFIFDLM EYSLSISGLI DFAIQLLNEL 910 920 930 940 950 960 SVVEAELLLK SSDLVGSYTT SLCLCIVAVL RHYHACLILN QDQMAQVFEG LCGVVKHGMN 970 980 990 1000 1010 1020 RSDGSSAERC ILAYLYDLYT SCSHLKNKFG ELFSDFCSKV KNTIYCNVEP SESNMRWAPE 1030 1040 1050 1060 1070 1080 FMIDTLENPA AHTFTYTGLG KSLSENPANR YSFVCNALMH VCVGHHDPDR VNDIAILCAE 1090 1100 1110 1120 1130 1140 LTGYCKSLSA EWLGVLKALC CSSNNGTCGF NDLLCNVDVS DLSFHDSLAT FVAILIARQC 1150 1160 1170 1180 1190 1200 LLLEDLIRCA AIPSLLNAAC SEQDSEPGAR LTCRILLHLF KTPQLNPCQS DGNKPTVGIR 1210 1220 1230 1240 1250 1260 SSCDRHLLAA SQNRIVDGAV FAVLKAVFVL GDAELKGSGF TVTGGTEELP EEEGGGGSGG 1270 1280 1290 1300 1310 1320 RRQGGRNISV ETASLDVYAK YVLRSICQQE WVGERCLKSL CEDSNDLQDP VLSSAQAQRL 1330 1340 1350 1360 1370 1380 MQLICYPHRL LDNEDGENPQ RQRIKRILQN LDQWTMRQSS LELQLMIKQT PNNEMNSLLE 1390 1400 1410 1420 1430 1440 NIAKATIEVF QQSAETGSSS GSTASNMPSS SKTKPVLSSL ERSGVWLVAP LIAKLPTSVQ 1450 1460 1470 1480 1490 1500 GHVLKAAGEE LEKGQHLGSS SRKERDRQKQ KSMSLLSQQP FLSLVLTCLK GQDEQREGLL 1510 1520 1530 1540 1550 1560 TSLYSQVHQI VNNWRDDQYL DDCKPKQLMH EALKLRLNLV GGMFDTVQRS TQQTTEWAML 1570 1580 1590 1600 1610 1620 LLEIIISGTV DMQSNNELFT TVLDMLSVLI NGTLAADMSS ISQGSMEENK RAYMNLAKKL 1630 1640 1650 1660 1670 1680 QKELGERQSD SLEKVRQLLP LPKQTRDVIT CEPQGSLIDT KGNKIAGFDS IFKKEGLQVS 1690 1700 1710 1720 1730 1740 TKQKISPWDL FEGLKPSAPL SWGWFGTVRV DRRVARGEEQ QRLLLYHTHL RPRPRAYYLE 1750 1760 1770 1780 1790 1800 PLPLPPEDEE PPAPTLLEPE KKAPEPPKTD KPGAAPPSTE ERKKKSTKGK KRSQPATKTE 1810 1820 1830 1840 1850 1860 DYGMGPGRSG PYGVTVPPDL LHHPNPGSIT HLNYRQGSIG LYTQNQPLPA GGPRVDPYRP 1870 1880 1890 1900 1910 1920 VRLPMQKLPT RPTYPGVLPT TMTGVMGLEP SSYKTSVYRQ QQPAVPQGQR LRQQLQQSQG 1930 1940 1950 1960 1970 1980 MLGQSSVHQM TPSSSYGLQT SQGYTPYVSH VGLQQHTGPA GTMVPPSYSS QPYQSTHPST 1990 2000 2010 2020 2030 2040 NPTLVDPTRH LQQRPSGYVH QQAPTYGHGL TSTQRFSHQT LQQTPMISTM TPMSAQGVQA 2050 2060 2070 2080 2090 2100 GVRSTAILPE QQQQQQQQQQ QQQQQQQQQQ QQQQQQYHIR QQQQQQILRQ QQQQQQQQQQ 2110 2120 2130 2140 2150 2160 QQQQQQQQQQ QQQQQHQQQQ QQQAAPPQPQ PQSQPQFQRQ GLQQTQQQQQ TAALVRQLQQ 2170 QLSNTQPQPS TNIFGRY
	Isoform 2 [UniParc]. Checksum: 22DB2ABC4A1CCA6B	FASTA	2,180	243,394
	10 20 30 40 50 60 MAAFGILSYE HRPLKRPRLG PPDVYPQDPK QKEDELTALN VKQGFNNQPA VSGDEHGSAK 70 80 90 100 110 120 NVSFNPAKIS SNFSSIIAEK LRCNTLPDTG RRKPQVNQKD NFWLVTARSQ SAINTWFTDL 130 140 150 160 170 180 AGTKPLTQLA KKVPIFSKKE EVFGYLAKYT VPVMRAAWLI KMTCAYYAAI SETKVKKRHV 190 200 210 220 230 240 DPFMEWTQII TKYLWEQLQK MAEYYRPGPA GSGGCGSTIG PLPHDVEVAI RQWDYTEKLA 250 260 270 280 290 300 MFMFQDGMLD RHEFLTWVLE CFEKIRPGED ELLKLLLPLL LRYSGEFVQS AYLSRRLAYF 310 320 330 340 350 360 CTRRLALQLD GVSSHSSHVI SAQSTSTLPT TPAPQPPTSS TPSTPFSDLL MCPQHRPLVF 370 380 390 400 410 420 GLSCILQTIL LCCPSALVWH YSLTDSRIKT GSPLDHLPIA PSNLPMPEGN SAFTQQVRAK 430 440 450 460 470 480 LREIEQQIKE RGQAVEVRWS FDKCQEATAG FTIGRVLHTL EVLDSHSFER SDFSNSLDSL 490 500 510 520 530 540 CNRIFGLGPS KDGHEISSDD DAVVSLLCEW AVSCKRSGRH RAMVVAKLLE KRQAEIEAER 550 560 570 580 590 600 CGESEAADEK GSIASGSLSA PSAPIFQDVL LQFLDTQAPM LTDPRSESER VEFFNLVLLF 610 620 630 640 650 660 CELIRHDVFS HNMYTCTLIS RGDLAFGAPG PRPPSPFDDP ADDPEHKEAE GSSSSKLEDP 670 680 690 700 710 720 GLSESMDIDP SSSVLFEDME KPDFSLFSPT MPCEGKGSPS PEKPDVEKEV KPPPKEKIEG 730 740 750 760 770 780 TLGVLYDQPR HVQYATHFPI PQEESCSHEC NQRLVVLFGV GKQRDDARHA IKKITKDILK 790 800 810 820 830 840 VLNRKGTAET DQLAPIVPLN PGDLTFLGGE DGQKRRRNRP EAFPTAEDIF AKFQHLSHYD 850 860 870 880 890 900 QHQVTAQVSR NVLEQITSFA LGMSYHLPLV QHVQFIFDLM EYSLSISGLI DFAIQLLNEL 910 920 930 940 950 960 SVVEAELLLK SSDLVGSYTT SLCLCIVAVL RHYHACLILN QDQMAQVFEG LCGVVKHGMN 970 980 990 1000 1010 1020 RSDGSSAERC ILAYLYDLYT SCSHLKNKFG ELFSDFCSKV KNTIYCNVEP SESNMRWAPE 1030 1040 1050 1060 1070 1080 FMIDTLENPA AHTFTYTGLG KSLSENPANR YSFVCNALMH VCVGHHDPDR VNDIAILCAE 1090 1100 1110 1120 1130 1140 LTGYCKSLSA EWLGVLKALC CSSNNGTCGF NDLLCNVDVS DLSFHDSLAT FVAILIARQC 1150 1160 1170 1180 1190 1200 LLLEDLIRCA AIPSLLNAAC SEQDSEPGAR LTCRILLHLF KTPQLNPCQS DGNKPTVGIR 1210 1220 1230 1240 1250 1260 SSCDRHLLAA SQNRIVDGAV FAVLKAVFVL GDAELKGSGF TVTGGTEELP EEEGGGGSGG 1270 1280 1290 1300 1310 1320 RRQGGRNISV ETASLDVYAK YVLRSICQQE WVGERCLKSL CEDSNDLQDP VLSSAQAQRL 1330 1340 1350 1360 1370 1380 MQLICYPHRL LDNEDGENPQ RQRIKRILQN LDQWTMRQSS LELQLMIKQT PNNEMNSLLE 1390 1400 1410 1420 1430 1440 NIAKATIEVF QQSAETGSSS GSTASNMPSS SKTKPVLSSL ERSGVWLVAP LIAKLPTSVQ 1450 1460 1470 1480 1490 1500 GHVLKAAGEE LEKGQHLGSS SRKERDRQKQ KSMSLLSQQP FLSLVLTCLK GQDEQREGLL 1510 1520 1530 1540 1550 1560 TSLYSQVHQI VNNWRDDQYL DDCKPKQLMH EALKLRLNLV GGMFDTVQRS TQQTTEWAML 1570 1580 1590 1600 1610 1620 LLEIIISGTV DMQSNNELFT TVLDMLSVLI NGTLAADMSS ISQGSMEENK RAYMNLAKKL 1630 1640 1650 1660 1670 1680 QKELGERQSD SLEKVRQLLP LPKQTRDVIT CEPQGSLIDT KGNKIAGFDS IFKKEGLQVS 1690 1700 1710 1720 1730 1740 TKQKISPWDL FEGLKPSAPL SWGWFGTVRV DRRVARGEEQ QRLLLYHTHL RPRPRAYYLE 1750 1760 1770 1780 1790 1800 PLPLPPEDEE PPAPTLLEPE KKAPEPPKTD KPGAAPPSTE ERKKKSTKGK KRSQPATKTE 1810 1820 1830 1840 1850 1860 DYGMGPGRSG PYGVTVPPDL LHHPNPGSIT HLNYRQGSIG LYTQNQPLPA GGPRVDPYRP 1870 1880 1890 1900 1910 1920 VRLPMQKLPT RPTYPGVLPT TMTGVMGLEP SSYKTSVYRQ QQPAVPQGQR LRQQLQAKIQ 1930 1940 1950 1960 1970 1980 SQGMLGQSSV HQMTPSSSYG LQTSQGYTPY VSHVGLQQHT GPAGTMVPPS YSSQPYQSTH 1990 2000 2010 2020 2030 2040 PSTNPTLVDP TRHLQQRPSG YVHQQAPTYG HGLTSTQRFS HQTLQQTPMI STMTPMSAQG 2050 2060 2070 2080 2090 2100 VQAGVRSTAI LPEQQQQQQQ QQQQQQQQQQ QQQQQQQQQY HIRQQQQQQI LRQQQQQQQQ 2110 2120 2130 2140 2150 2160 QQQQQQQQQQ QQQQQQQQHQ QQQQQQAAPP QPQPQSQPQF QRQGLQQTQQ QQQTAALVRQ 2170 2180 LQQQLSNTQP QPSTNIFGRY
	Isoform 3 [UniParc]. Checksum: 440A5E60BA3E7273	FASTA	2,176	242,953
	10 20 30 40 50 60 MAAFGILSYE HRPLKRPRLG PPDVYPQDPK QKEDELTALN VKQGFNNQPA VSGDEHGSAK 70 80 90 100 110 120 NVSFNPAKIS SNFSSIIAEK LRCNTLPDTG RRKPQVNQKD NFWLVTARSQ SAINTWFTDL 130 140 150 160 170 180 AGTKPLTQLA KKVPIFSKKE EVFGYLAKYT VPVMRAAWLI KMTCAYYAAI SETKVKKRHV 190 200 210 220 230 240 DPFMEWTQII TKYLWEQLQK MAEYYRPGPA GSGGCGSTIG PLPHDVEVAI RQWDYTEKLA 250 260 270 280 290 300 MFMFQDGMLD RHEFLTWVLE CFEKIRPGED ELLKLLLPLL LRYSGEFVQS AYLSRRLAYF 310 320 330 340 350 360 CTRRLALQLD GVSSHSSHVI SAQSTSTLPT TPAPQPPTSS TPSTPFSDLL MCPQHRPLVF 370 380 390 400 410 420 GLSCILQTIL LCCPSALVWH YSLTDSRIKT GSPLDHLPIA PSNLPMPEGN SAFTQQVRAK 430 440 450 460 470 480 LREIEQQIKE RGQAVEVRWS FDKCQEATAG FTIGRVLHTL EVLDSHSFER SDFSNSLDSL 490 500 510 520 530 540 CNRIFGLGPS KDGHEISSDD DAVVSLLCEW AVSCKRSGRH RAMVVAKLLE KRQAEIEAER 550 560 570 580 590 600 CGESEAADEK GSIASGSLSA PSAPIFQDVL LQFLDTQAPM LTDPRSESER VEFFNLVLLF 610 620 630 640 650 660 CELIRHDVFS HNMYTCTLIS RGDLAFGAPG PRPPSPFDDP ADDPEHKEAE GSSSSKLEDP 670 680 690 700 710 720 GLSESMDIDP SSSVLFEDME KPDFSLFSPT MPCEGKGSPS PEKPDVEKEV KPPPKEKIEG 730 740 750 760 770 780 TLGVLYDQPR HVQYATHFPI PQEESCSHEC NQRLVVLFGV GKQRDDARHA IKKITKDILK 790 800 810 820 830 840 VLNRKGTAET DQLAPIVPLN PGDLTFLGGE DGQKRRRNRP EAFPTAEDIF AKFQHLSHYD 850 860 870 880 890 900 QHQVTAQVSR NVLEQITSFA LGMSYHLPLV QHVQFIFDLM EYSLSISGLI DFAIQLLNEL 910 920 930 940 950 960 SVVEAELLLK SSDLVGSYTT SLCLCIVAVL RHYHACLILN QDQMAQVFEG LCGVVKHGMN 970 980 990 1000 1010 1020 RSDGSSAERC ILAYLYDLYT SCSHLKNKFG ELFSDFCSKV KNTIYCNVEP SESNMRWAPE 1030 1040 1050 1060 1070 1080 FMIDTLENPA AHTFTYTGLG KSLSENPANR YSFVCNALMH VCVGHHDPDR VNDIAILCAE 1090 1100 1110 1120 1130 1140 LTGYCKSLSA EWLGVLKALC CSSNNGTCGF NDLLCNVDVS DLSFHDSLAT FVAILIARQC 1150 1160 1170 1180 1190 1200 LLLEDLIRCA AIPSLLNAAC SEQDSEPGAR LTCRILLHLF KTPQLNPCQS DGNKPTVGIR 1210 1220 1230 1240 1250 1260 SSCDRHLLAA SQNRIVDGAV FAVLKAVFVL GDAELKGSGF TVTGGTEELP EEEGGGGSGG 1270 1280 1290 1300 1310 1320 RRQGGRNISV ETASLDVYAK YVLRSICQQE WVGERCLKSL CEDSNDLQDP VLSSAQAQRL 1330 1340 1350 1360 1370 1380 MQLICYPHRL LDNEDGENPQ RQRIKRILQN LDQWTMRQSS LELQLMIKQT PNNEMNSLLE 1390 1400 1410 1420 1430 1440 NIAKATIEVF QQSAETGSSS GSTASNMPSS SKTKPVLSSL ERSGVWLVAP LIAKLPTSVQ 1450 1460 1470 1480 1490 1500 GHVLKAAGEE LEKGQHLGSS SRKERDRQKQ KSMSLLSQQP FLSLVLTCLK GQDEQREGLL 1510 1520 1530 1540 1550 1560 TSLYSQVHQI VNNWRDDQYL DDCKPKQLMH EALKLRLNLV GGMFDTVQRS TQQTTEWAML 1570 1580 1590 1600 1610 1620 LLEIIISGTV DMQSNNELFT TVLDMLSVLI NGTLAADMSS ISQGSMEENK RAYMNLAKKL 1630 1640 1650 1660 1670 1680 QKELGERQSD SLEKVRQLLP LPKQTRDVIT CEPQGSLIDT KGNKIAGFDS IFKKEGLQVS 1690 1700 1710 1720 1730 1740 TKQKISPWDL FEGLKPSAPL SWGWFGTVRV DRRVARGEEQ QRLLLYHTHL RPRPRAYYLE 1750 1760 1770 1780 1790 1800 PLPLPPEDEE PPAPTLLEPE KKAPEPPKTD KPGAAPPSTE ERKKKSTKGK KRSQPATKTE 1810 1820 1830 1840 1850 1860 DYGMGPGRSG PYGVTVPPDL LHHPNPGSIT HLNYRQGSIG LYTQNQPLPA GGPRVDPYRP 1870 1880 1890 1900 1910 1920 VRLPMQKLPT RPTYPGVLPT TMTGVMGLEP SSYKTSVYRQ QQPAVPQGQR LRQQLQSQGM 1930 1940 1950 1960 1970 1980 LGQSSVHQMT PSSSYGLQTS QGYTPYVSHV GLQQHTGPAG TMVPPSYSSQ PYQSTHPSTN 1990 2000 2010 2020 2030 2040 PTLVDPTRHL QQRPSGYVHQ QAPTYGHGLT STQRFSHQTL QQTPMISTMT PMSAQGVQAG 2050 2060 2070 2080 2090 2100 VRSTAILPEQ QQQQQQQQQQ QQQQQQQQQQ QQQQQYHIRQ QQQQQILRQQ QQQQQQQQQQ 2110 2120 2130 2140 2150 2160 QQQQQQQQQQ QQQQHQQQQQ QQAAPPQPQP QSQPQFQRQG LQQTQQQQQT AALVRQLQQQ 2170 LSNTQPQPST NIFGRY

References

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[1]	"Identity between TRAP and SMCC complexes indicates novel pathways for the function of nuclear receptors and diverse mammalian activators." Ito M., Yuan C.-X., Malik S., Gu W., Fondell J.D., Yamamura S., Fu Z.-Y., Zhang X., Qin J., Roeder R.G. Mol. Cell 3:361-370(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 788-802 (ISOFORMS 1/2/3), IDENTIFICATION IN THE TRAP COMPLEX, TISSUE SPECIFICITY, VARIANT ARG-1392. Tissue: Cervix carcinoma.
[2]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1." Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N. DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 54-2177 (ISOFORM 1), VARIANT ARG-1392. Tissue: Bone marrow.
[4]	"Association of an X-chromosome dodecamer insertional variant allele with mental retardation." Philibert R.A., King B.H., Cook E.H., Lee Y.-H., Stubblefield B., Damschroder-Williams P., Dea C., Palotie A., Tengstrom C., Martin B.M., Ginns E.I. Mol. Psychiatry 3:303-309(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 154-2177 (ISOFORM 3).
[5]	"The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)." Philibert R.A., Winfield S.L., Damschroder-Williams P., Tengstrom C., Martin B.M., Ginns E.I. Hum. Genet. 105:174-178(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 154-2177 (ISOFORM 3).
[6]	"Ligand-dependent transcription activation by nuclear receptors requires the DRIP complex." Rachez C., Lemon B.D., Suldan Z., Bromleigh V., Gamble M., Naeaer A.M., Erdjument-Bromage H., Tempst P., Freedman L.P. Nature 398:824-828(1999) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 386-418 (ISOFORMS 1/2/3), IDENTIFICATION IN THE ARC COMPLEX. Tissue: Cervix carcinoma.
[7]	"cDNAs with long CAG trinucleotide repeats from human brain." Margolis R.L., Abraham M.R., Gatchell S.B., Li S.-H., Kidwai A.S., Breschel T.S., Stine O.C., Callahan C., McInnis M.G., Ross C.A. Hum. Genet. 100:114-122(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1529-2177 (ISOFORM 2). Tissue: Brain.
[8]	"Composite co-activator ARC mediates chromatin-directed transcriptional activation." Naeaer A.M., Beaurang P.A., Zhou S., Abraham S., Solomon W.B., Tjian R. Nature 398:828-832(1999) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 1674-1682 AND 1771-1782 (ISOFORMS 1/2/3), IDENTIFICATION IN THE ARC COMPLEX.
[9]	"A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology." Sato S., Tomomori-Sato C., Parmely T.J., Florens L., Zybailov B., Swanson S.K., Banks C.A.S., Jin J., Cai Y., Washburn M.P., Conaway J.W., Conaway R.C. Mol. Cell 14:685-691(2004) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE MEDIATOR COMPLEX, INTERACTION OF THE MEDIATOR COMPLEX WITH RNA POLYMERASE II.
[10]	"MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription." Zhang X., Krutchinsky A., Fukuda A., Chen W., Yamamura S., Chait B.T., Roeder R.G. Mol. Cell 19:89-100(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH MED1; MED18; MED21; MED28; MED29 AND MED30, IDENTIFICATION BY MASS SPECTROMETRY, IDENTIFICATION IN THE MEDIATOR COMPLEX, ASSOCIATION OF THE MEDIATOR COMPLEX WITH RNA POLYMERASE II.
[11]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-635, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Mediator is a transducer of Wnt/beta-catenin signaling." Kim S., Xu X., Hecht A., Boyer T.G. J. Biol. Chem. 281:14066-14075(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CTNNB1 AND MED30.
[13]	"Human Mediator enhances basal transcription by facilitating recruitment of transcription factor IIB during preinitiation complex assembly." Baek H.J., Kang Y.K., Roeder R.G. J. Biol. Chem. 281:15172-15181(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH MED1 AND MED10.
[14]	"Mediator modulates Gli3-dependent Sonic hedgehog signaling." Zhou H., Kim S., Ishii S., Boyer T.G. Mol. Cell. Biol. 26:8667-8682(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CDK8; CTNNB1 AND GLI3.
[15]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-635 AND SER-1258, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-166, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[17]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-635; SER-1258 AND SER-1269, MASS SPECTROMETRY.
[18]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-635, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[19]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[20]	"The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene." Schwartz C.E., Tarpey P.S., Lubs H.A., Verloes A., May M.M., Risheg H., Friez M.J., Futreal P.A., Edkins S., Teague J., Briault S., Skinner C., Bauer-Carlin A., Simensen R.J., Joseph S.M., Jones J.R., Gecz J., Stratton M.R., Raymond F.L., Stevenson R.E. J. Med. Genet. 44:472-477(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT LUJFRYS SER-1007.
[21]	"A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome." Risheg H., Graham J.M. Jr., Clark R.D., Rogers R.C., Opitz J.M., Moeschler J.B., Peiffer A.P., May M., Joseph S.M., Jones J.R., Stevenson R.E., Schwartz C.E., Friez M.J. Nat. Genet. 39:451-453(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT OKS TRP-961.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF117755 mRNA. Translation: AAD22033.1. Different initiation. AL590764 Genomic DNA. No translation available. D83783 mRNA. Translation: BAA12112.1. AF071309 mRNA. Translation: AAC83163.1. AF132033 Genomic DNA. Translation: AAD44162.1. U80742 mRNA. Translation: AAB91440.1.
IPI	IPI00004068. IPI00640149. IPI00913988.
RefSeq	NP_005111.2. NM_005120.2.
UniGene	Hs.409226.
3D structure databases
ProteinModelPortal	Q93074.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-31459N.
IntAct	Q93074. 17 interactions.
STRING	9606.ENSP00000363193.
PTM databases
PhosphoSite	Q93074.
Polymorphism databases
DMDM	209572775.
Proteomic databases
PaxDb	Q93074.
PRIDE	Q93074.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000333646; ENSP00000333125; ENSG00000184634. ENST00000374080; ENSP00000363193; ENSG00000184634. ENST00000374102; ENSP00000363215; ENSG00000184634.
GeneID	9968.
KEGG	hsa:9968.
UCSC	uc004dyy.3. human. uc004dyz.3. human.
Organism-specific databases
CTD	9968.
GeneCards	GC0XP070338.
HGNC	HGNC:11957. MED12.
HPA	HPA003184. HPA003185.
MIM	300188. gene. 305450. phenotype. 309520. phenotype.
neXtProt	NX_Q93074.
Orphanet	93932. FG syndrome type 1. 776. X-linked intellectual deficit with marfanoid habitus.
PharmGKB	PA36645.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG319131.
HOGENOM	HOG000231423.
HOVERGEN	HBG052447.
InParanoid	Q93074.
KO	K15162.
OMA	TVDMQSN.
Enzyme and pathway databases
Reactome	REACT_111045. Developmental Biology. REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	Q93074.
Bgee	Q93074.
CleanEx	HS_MED12.
Genevestigator	Q93074.
GermOnline	ENSG00000184634. Homo sapiens.
Family and domain databases
InterPro	IPR019035. Mediator_Med12. IPR021989. Mediator_Med12_catenin-bd. IPR021990. Mediator_Med12_LCEWAV. [Graphical view]
Pfam	PF09497. Med12. 1 hit. PF12145. Med12-LCEWAV. 1 hit. PF12144. Med12-PQL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MED12. human.
GenomeRNAi	9968.
NextBio	37618.
SOURCE	Search...

Entry information

Entry name

MED12_HUMAN

Accession

Primary (citable) accession number: Q93074
Secondary accession number(s): O15410 , O75557, Q9UHV6, Q9UND7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	October 14, 2008
Last modified:	May 1, 2013
This is version 129 of the entry and version 4 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.