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UniProtKB - Q93074 (MED12_HUMAN)

Entry version 201 (07 Apr 2021)
Sequence version 4 (14 Oct 2008)
Previous versions | rss
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Protein

Mediator of RNA polymerase II transcription subunit 12

Gene

MED12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q93074

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1989781, PPARA activates gene expression
R-HSA-212436, Generic Transcription Pathway
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q93074

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q93074

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MED12
Synonyms:ARC240, CAGH45, HOPA, KIAA0192, TNRC11, TRAP230
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11957, MED12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300188, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q93074

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000184634.15

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Opitz-Kaveggia syndrome (OKS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionX-linked disorder characterized by mental retardation, relative macrocephaly, hypotonia and constipation.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_033112961R → W in OKS. 1 PublicationCorresponds to variant dbSNP:rs80338758EnsemblClinVar.1
Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type (MRXSLF)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate with dental crowding, a small or receding chin, long hands with hyperextensible digits, hypernasal speech, hypotonia, mild-to-moderate mental retardation, behavioral aberrations and dysgenesis of the corpus callosum.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0375341007N → S in MRXSLF. 1 PublicationCorresponds to variant dbSNP:rs80338759EnsemblClinVar.1
Ohdo syndrome, X-linked (OHDOX)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0697701148R → H in OHDOX. 1 PublicationCorresponds to variant dbSNP:rs387907360EnsemblClinVar.1
Natural variantiVAR_0697711165S → P in OHDOX. 1 PublicationCorresponds to variant dbSNP:rs387907361EnsemblClinVar.1
Natural variantiVAR_0697721729H → N in OHDOX. 1 PublicationCorresponds to variant dbSNP:rs387907362EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		9968

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		MED12

MalaCards human disease database

More...MalaCardsi		MED12
MIMi300895, phenotype
305450, phenotype
309520, phenotype

Open Targets

More...OpenTargetsi		ENSG00000184634

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		293707, Blepharophimosis-intellectual disability syndrome, MKB type
93932, FG syndrome type 1
776, X-linked intellectual disability with marfanoid habitus
777, X-linked non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36645

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q93074, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MED12

Domain mapping of disease mutations (DMDM)

More...DMDMi		209572775

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000963591 – 2177Mediator of RNA polymerase II transcription subunit 12Add BLAST2177

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei80N6-acetyllysineBy similarity1
Modified residuei166PhosphotyrosineCombined sources1
Modified residuei635PhosphoserineCombined sources1
Modified residuei665PhosphoserineCombined sources1
Modified residuei698PhosphoserineCombined sources1
Modified residuei700PhosphoserineCombined sources1
Modified residuei1258PhosphoserineCombined sources1
Modified residuei1269PhosphoserineCombined sources1
Modified residuei1798N6-acetyllysineBy similarity1
Modified residuei1899Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei1899Omega-N-methylarginine; alternateBy similarity1
Modified residuei1910Omega-N-methylarginineBy similarity1
Modified residuei1994Asymmetric dimethylarginineCombined sources1
Modified residuei2015Asymmetric dimethylarginineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q93074

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q93074

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q93074

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q93074

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q93074

PeptideAtlas

More...PeptideAtlasi		Q93074

PRoteomics IDEntifications database

More...PRIDEi		Q93074

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75701 [Q93074-1]
75702 [Q93074-2]
75703 [Q93074-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q93074

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q93074

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000184634, Expressed in left adrenal gland and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q93074, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q93074, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000184634, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.

8 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115293, 141 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3232, CKM complex variant 1
CPX-3263, CKM complex variant 2

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q93074

Database of interacting proteins

More...DIPi		DIP-31459N

Protein interaction database and analysis system

More...IntActi		Q93074, 78 interactors

Molecular INTeraction database

More...MINTi		Q93074

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000363193

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q93074, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1616 – 2051Interaction with CTNNB1 and GLI31 PublicationAdd BLAST436

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1732 – 1777Pro-richAdd BLAST46
Compositional biasi1900 – 2168Gln-richAdd BLAST269

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Mediator complex subunit 12 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3598, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00440000037505

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000904_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q93074

Identification of Orthologs from Complete Genome Data

More...OMAi		VWLDTVA

Database of Orthologous Groups

More...OrthoDBi		15873at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q93074

TreeFam database of animal gene trees

More...TreeFami		TF324178

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019035, Mediator_Med12
IPR021989, Mediator_Med12_catenin-bd
IPR021990, Mediator_Med12_LCEWAV

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09497, Med12, 1 hit
PF12145, Med12-LCEWAV, 1 hit
PF12144, Med12-PQL, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01281, Med12, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q93074-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAFGILSYE HRPLKRPRLG PPDVYPQDPK QKEDELTALN VKQGFNNQPA 
        60         70         80         90        100
VSGDEHGSAK NVSFNPAKIS SNFSSIIAEK LRCNTLPDTG RRKPQVNQKD 
       110        120        130        140        150
NFWLVTARSQ SAINTWFTDL AGTKPLTQLA KKVPIFSKKE EVFGYLAKYT 
       160        170        180        190        200
VPVMRAAWLI KMTCAYYAAI SETKVKKRHV DPFMEWTQII TKYLWEQLQK 
       210        220        230        240        250
MAEYYRPGPA GSGGCGSTIG PLPHDVEVAI RQWDYTEKLA MFMFQDGMLD 
       260        270        280        290        300
RHEFLTWVLE CFEKIRPGED ELLKLLLPLL LRYSGEFVQS AYLSRRLAYF 
       310        320        330        340        350
CTRRLALQLD GVSSHSSHVI SAQSTSTLPT TPAPQPPTSS TPSTPFSDLL 
       360        370        380        390        400
MCPQHRPLVF GLSCILQTIL LCCPSALVWH YSLTDSRIKT GSPLDHLPIA 
       410        420        430        440        450
PSNLPMPEGN SAFTQQVRAK LREIEQQIKE RGQAVEVRWS FDKCQEATAG 
       460        470        480        490        500
FTIGRVLHTL EVLDSHSFER SDFSNSLDSL CNRIFGLGPS KDGHEISSDD 
       510        520        530        540        550
DAVVSLLCEW AVSCKRSGRH RAMVVAKLLE KRQAEIEAER CGESEAADEK 
       560        570        580        590        600
GSIASGSLSA PSAPIFQDVL LQFLDTQAPM LTDPRSESER VEFFNLVLLF 
       610        620        630        640        650
CELIRHDVFS HNMYTCTLIS RGDLAFGAPG PRPPSPFDDP ADDPEHKEAE 
       660        670        680        690        700
GSSSSKLEDP GLSESMDIDP SSSVLFEDME KPDFSLFSPT MPCEGKGSPS 
       710        720        730        740        750
PEKPDVEKEV KPPPKEKIEG TLGVLYDQPR HVQYATHFPI PQEESCSHEC 
       760        770        780        790        800
NQRLVVLFGV GKQRDDARHA IKKITKDILK VLNRKGTAET DQLAPIVPLN 
       810        820        830        840        850
PGDLTFLGGE DGQKRRRNRP EAFPTAEDIF AKFQHLSHYD QHQVTAQVSR 
       860        870        880        890        900
NVLEQITSFA LGMSYHLPLV QHVQFIFDLM EYSLSISGLI DFAIQLLNEL 
       910        920        930        940        950
SVVEAELLLK SSDLVGSYTT SLCLCIVAVL RHYHACLILN QDQMAQVFEG 
       960        970        980        990       1000
LCGVVKHGMN RSDGSSAERC ILAYLYDLYT SCSHLKNKFG ELFSDFCSKV 
      1010       1020       1030       1040       1050
KNTIYCNVEP SESNMRWAPE FMIDTLENPA AHTFTYTGLG KSLSENPANR 
      1060       1070       1080       1090       1100
YSFVCNALMH VCVGHHDPDR VNDIAILCAE LTGYCKSLSA EWLGVLKALC 
      1110       1120       1130       1140       1150
CSSNNGTCGF NDLLCNVDVS DLSFHDSLAT FVAILIARQC LLLEDLIRCA 
      1160       1170       1180       1190       1200
AIPSLLNAAC SEQDSEPGAR LTCRILLHLF KTPQLNPCQS DGNKPTVGIR 
      1210       1220       1230       1240       1250
SSCDRHLLAA SQNRIVDGAV FAVLKAVFVL GDAELKGSGF TVTGGTEELP 
      1260       1270       1280       1290       1300
EEEGGGGSGG RRQGGRNISV ETASLDVYAK YVLRSICQQE WVGERCLKSL 
      1310       1320       1330       1340       1350
CEDSNDLQDP VLSSAQAQRL MQLICYPHRL LDNEDGENPQ RQRIKRILQN 
      1360       1370       1380       1390       1400
LDQWTMRQSS LELQLMIKQT PNNEMNSLLE NIAKATIEVF QQSAETGSSS 
      1410       1420       1430       1440       1450
GSTASNMPSS SKTKPVLSSL ERSGVWLVAP LIAKLPTSVQ GHVLKAAGEE 
      1460       1470       1480       1490       1500
LEKGQHLGSS SRKERDRQKQ KSMSLLSQQP FLSLVLTCLK GQDEQREGLL 
      1510       1520       1530       1540       1550
TSLYSQVHQI VNNWRDDQYL DDCKPKQLMH EALKLRLNLV GGMFDTVQRS 
      1560       1570       1580       1590       1600
TQQTTEWAML LLEIIISGTV DMQSNNELFT TVLDMLSVLI NGTLAADMSS 
      1610       1620       1630       1640       1650
ISQGSMEENK RAYMNLAKKL QKELGERQSD SLEKVRQLLP LPKQTRDVIT 
      1660       1670       1680       1690       1700
CEPQGSLIDT KGNKIAGFDS IFKKEGLQVS TKQKISPWDL FEGLKPSAPL 
      1710       1720       1730       1740       1750
SWGWFGTVRV DRRVARGEEQ QRLLLYHTHL RPRPRAYYLE PLPLPPEDEE 
      1760       1770       1780       1790       1800
PPAPTLLEPE KKAPEPPKTD KPGAAPPSTE ERKKKSTKGK KRSQPATKTE 
      1810       1820       1830       1840       1850
DYGMGPGRSG PYGVTVPPDL LHHPNPGSIT HLNYRQGSIG LYTQNQPLPA 
      1860       1870       1880       1890       1900
GGPRVDPYRP VRLPMQKLPT RPTYPGVLPT TMTGVMGLEP SSYKTSVYRQ 
      1910       1920       1930       1940       1950
QQPAVPQGQR LRQQLQQSQG MLGQSSVHQM TPSSSYGLQT SQGYTPYVSH 
      1960       1970       1980       1990       2000
VGLQQHTGPA GTMVPPSYSS QPYQSTHPST NPTLVDPTRH LQQRPSGYVH 
      2010       2020       2030       2040       2050
QQAPTYGHGL TSTQRFSHQT LQQTPMISTM TPMSAQGVQA GVRSTAILPE 
      2060       2070       2080       2090       2100
QQQQQQQQQQ QQQQQQQQQQ QQQQQQYHIR QQQQQQILRQ QQQQQQQQQQ 
      2110       2120       2130       2140       2150
QQQQQQQQQQ QQQQQHQQQQ QQQAAPPQPQ PQSQPQFQRQ GLQQTQQQQQ 
      2160       2170 
TAALVRQLQQ QLSNTQPQPS TNIFGRY
Length:2,177
Mass (Da):243,081
Last modified:October 14, 2008 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7492B07BA0F6EA9D
GO
Isoform 2 (identifier: Q93074-2) [UniParc]FASTAAdd to basket

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

Show »
Length:2,180
Mass (Da):243,394
Checksum:i22DB2ABC4A1CCA6B
GO
Isoform 3 (identifier: Q93074-3) [UniParc]FASTAAdd to basket

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

Show »
Length:2,176
Mass (Da):242,953
Checksum:i440A5E60BA3E7273
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q7Z3Z5Q7Z3Z5_HUMAN
Mediator of RNA polymerase II trans...
MED12 TNRC11, hCG_19960
2,027Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C191H7C191_HUMAN
Mediator of RNA polymerase II trans...
MED12
130Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C274H7C274_HUMAN
Mediator of RNA polymerase II trans...
MED12
251Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD22033 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti16R → RPR in AAD22033 (PubMed:10198638).Curated1
Sequence conflicti397Missing AA sequence (PubMed:10235266).Curated1
Sequence conflicti1166E → V in AAD44162 (PubMed:10480376).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_033112961R → W in OKS. 1 PublicationCorresponds to variant dbSNP:rs80338758EnsemblClinVar.1
Natural variantiVAR_0375341007N → S in MRXSLF. 1 PublicationCorresponds to variant dbSNP:rs80338759EnsemblClinVar.1
Natural variantiVAR_0697701148R → H in OHDOX. 1 PublicationCorresponds to variant dbSNP:rs387907360EnsemblClinVar.1
Natural variantiVAR_0697711165S → P in OHDOX. 1 PublicationCorresponds to variant dbSNP:rs387907361EnsemblClinVar.1
Natural variantiVAR_0466721392Q → R2 PublicationsCorresponds to variant dbSNP:rs1139013Ensembl.1
Natural variantiVAR_0697721729H → N in OHDOX. 1 PublicationCorresponds to variant dbSNP:rs387907362EnsemblClinVar.1
Natural variantiVAR_0740181974Q → H Found in a family with X-linked intellectual disability; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255528EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0355201916Q → QAKI in isoform 2. 1 Publication1
Alternative sequenceiVSP_0355211916Missing in isoform 3. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43970.1 [Q93074-1]

NCBI Reference Sequences

More...RefSeqi		NP_005111.2, NM_005120.2 [Q93074-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000374080; ENSP00000363193; ENSG00000184634 [Q93074-1]
ENST00000374102; ENSP00000363215; ENSG00000184634 [Q93074-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9968

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9968

UCSC genome browser

More...UCSCi		uc004dyy.4, human [Q93074-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS43970.1 [Q93074-1]
RefSeqiNP_005111.2, NM_005120.2 [Q93074-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi115293, 141 interactors
ComplexPortaliCPX-3232, CKM complex variant 1
CPX-3263, CKM complex variant 2
CORUMiQ93074
DIPiDIP-31459N
IntActiQ93074, 78 interactors
MINTiQ93074
STRINGi9606.ENSP00000363193

PTM databases

iPTMnetiQ93074
PhosphoSitePlusiQ93074

Genetic variation databases

BioMutaiMED12
DMDMi209572775

Proteomic databases

EPDiQ93074
jPOSTiQ93074
MassIVEiQ93074
MaxQBiQ93074
PaxDbiQ93074
PeptideAtlasiQ93074
PRIDEiQ93074
ProteomicsDBi75701 [Q93074-1]
75702 [Q93074-2]
75703 [Q93074-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		562, 216 antibodies

Genome annotation databases

EnsembliENST00000374080; ENSP00000363193; ENSG00000184634 [Q93074-1]
ENST00000374102; ENSP00000363215; ENSG00000184634 [Q93074-3]
GeneIDi9968
KEGGihsa:9968
UCSCiuc004dyy.4, human [Q93074-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9968
DisGeNETi9968

GeneCards: human genes, protein and diseases

More...GeneCardsi		MED12
GeneReviewsiMED12
HGNCiHGNC:11957, MED12
HPAiENSG00000184634, Low tissue specificity
MalaCardsiMED12
MIMi300188, gene
300895, phenotype
305450, phenotype
309520, phenotype
neXtProtiNX_Q93074
OpenTargetsiENSG00000184634
Orphaneti293707, Blepharophimosis-intellectual disability syndrome, MKB type
93932, FG syndrome type 1
776, X-linked intellectual disability with marfanoid habitus
777, X-linked non-syndromic intellectual disability
PharmGKBiPA36645
VEuPathDBiHostDB:ENSG00000184634.15

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3598, Eukaryota
GeneTreeiENSGT00440000037505
HOGENOMiCLU_000904_1_0_1
InParanoidiQ93074
OMAiVWLDTVA
OrthoDBi15873at2759
PhylomeDBiQ93074
TreeFamiTF324178

Enzyme and pathway databases

PathwayCommonsiQ93074
ReactomeiR-HSA-1989781, PPARA activates gene expression
R-HSA-212436, Generic Transcription Pathway
R-HSA-381340, Transcriptional regulation of white adipocyte differentiation
SignaLinkiQ93074
SIGNORiQ93074

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9968, 223 hits in 652 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MED12, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MED12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9968
PharosiQ93074, Tbio

Protein Ontology

More...PROi		PR:Q93074
RNActiQ93074, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000184634, Expressed in left adrenal gland and 213 other tissues
ExpressionAtlasiQ93074, baseline and differential
GenevisibleiQ93074, HS

Family and domain databases

InterProiView protein in InterPro
IPR019035, Mediator_Med12
IPR021989, Mediator_Med12_catenin-bd
IPR021990, Mediator_Med12_LCEWAV
PfamiView protein in Pfam
PF09497, Med12, 1 hit
PF12145, Med12-LCEWAV, 1 hit
PF12144, Med12-PQL, 1 hit
SMARTiView protein in SMART
SM01281, Med12, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMED12_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q93074
Secondary accession number(s): O15410
, O75557, Q9UHV6, Q9UND7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 14, 2008
Last modified: April 7, 2021
This is version 201 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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