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Protein

Mediator of RNA polymerase II transcription subunit 13-like

Gene

MED13L

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.

<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

  • transcription coregulator activity Source: GO_Central

GO - Biological processi

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1989781 PPARA activates gene expression
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation

<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_and_taxonomy_section">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 13-like
Alternative name(s):
Mediator complex subunit 13-like
Thyroid hormone receptor-associated protein 2
Thyroid hormone receptor-associated protein complex 240 kDa component-like
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:MED13L
Synonyms:KIAA1025, PROSIT240, THRAP2, TRAP240L
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000123066.7

Human Gene Nomenclature Database

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HGNCi
HGNC:22962 MED13L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608771 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q71F56

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Transposition of the great arteries dextro-looped 1 (DTGA1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart defect consisting of complete inversion of the great vessels, so that the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. This creates completely separate pulmonary and systemic circulatory systems, an arrangement that is incompatible with life. The presence or absence of associated cardiac anomalies defines the clinical presentation and surgical management of patients with transposition of the great arteries.
See also OMIM:608808
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_024024251E → G in DTGA1. 1 PublicationCorresponds to variant dbSNP:rs28940309EnsemblClinVar.1
Natural variantiVAR_0240251872R → H in DTGA1. 1 PublicationCorresponds to variant dbSNP:rs28940310EnsemblClinVar.1
Natural variantiVAR_0240262023D → G in DTGA1. 1 PublicationCorresponds to variant dbSNP:rs121918333EnsemblClinVar.1
A chromosomal aberration involving MED13L is found in a patient with transposition of the great arteries, dextro-looped and mental retardation. Translocation t(12;17)(q24.1;q21).1 Publication
Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant, syndromic form of mental retardation characterized by delayed psychomotor development, profound language impairment, and facial dysmorphism, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia. There is variable penetrance of cardiac malformations, ranging from no malformations to patent foramen ovale to septal defects and/or transposition of the great arteries. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:616789
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076332160 – 174Missing in MRFACD. 1 PublicationAdd BLAST15

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23389

MalaCards human disease database

More...
MalaCardsi
MED13L
MIMi608808 phenotype
616789 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000123066

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

More...
Orphaneti
88616 Autosomal recessive non-syndromic intellectual disability
369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome
860 Congenitally uncorrected transposition of the great arteries

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162395233

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MED13L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749769

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000763521 – 2210Mediator of RNA polymerase II transcription subunit 13-likeAdd BLAST2210

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 residuei553PhosphoserineCombined sources1
Modified residuei560PhosphoserineCombined sources1
Modified residuei817PhosphoserineCombined sources1
Modified residuei826PhosphoserineCombined sources1
Modified residuei923PhosphoserineCombined sources1
Modified residuei2083PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q71F56

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q71F56

MaxQB - The MaxQuant DataBase

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MaxQBi
Q71F56

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

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PaxDbi
Q71F56

PeptideAtlas

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PeptideAtlasi
Q71F56

PRoteomics IDEntifications database

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PRIDEi
Q71F56

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68600

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q71F56

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

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PhosphoSitePlusi
Q71F56

<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

Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000123066 Expressed in 243 organ(s), highest expression level in forebrain

CleanEx database of gene expression profiles

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CleanExi
HS_MED13L

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q71F56 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q71F56 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039445

<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_section">'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_section">'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.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116964, 28 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q71F56

Protein interaction database and analysis system

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IntActi
Q71F56, 17 interactors

Molecular INTeraction database

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MINTi
Q71F56

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000281928

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q71F56

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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>Regioni1380 – 1401Leucine-zipperAdd BLAST22

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi669 – 673LXXLL motif 15
Motifi1225 – 1229LXXLL motif 25

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 biasi1566 – 1610Ser-richAdd BLAST45

<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 13 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3600 Eukaryota
ENOG410XPV2 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013680

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG058069

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q71F56

KEGG Orthology (KO)

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KOi
K15164

Identification of Orthologs from Complete Genome Data

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OMAi
GHITVGQ

Database of Orthologous Groups

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OrthoDBi
177884at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q71F56

TreeFam database of animal gene trees

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TreeFami
TF316867

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009401 Med13_C
IPR021643 Mediator_Med13_N_met/fun

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06333 Med13_C, 1 hit
PF11597 Med13_N, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

Q71F56-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTAAANWVAN GASLEDCHSN LFSLAELTGI KWRRYNFGGH GDCGPIISAP
60 70 80 90 100
AQDDPILLSF IRCLQANLLC VWRRDVKPDC KELWIFWWGD EPNLVGVIHH
110 120 130 140 150
ELQVVEEGLW ENGLSYECRT LLFKAIHNLL ERCLMDKNFV RIGKWFVRPY
160 170 180 190 200
EKDEKPVNKS EHLSCAFTFF LHGESNVCTS VEIAQHQPIY LINEEHIHMA
210 220 230 240 250
QSSPAPFQVL VSPYGLNGTL TGQAYKMSDP ATRKLIEEWQ YFYPMVLKKK
260 270 280 290 300
EESKEEDELG YDDDFPVAVE VIVGGVRMVY PSAFVLISQN DIPVPQSVAS
310 320 330 340 350
AGGHIAVGQQ GLGSVKDPSN CGMPLTPPTS PEQAILGESG GMQSAASHLV
360 370 380 390 400
SQDGGMITMH SPKRSGKIPP KLHNHMVHRV WKECILNRTQ SKRSQMSTPT
410 420 430 440 450
LEEEPASNPA TWDFVDPTQR VSCSCSRHKL LKRCAVGPNR PPTVSQPGFS
460 470 480 490 500
AGPSSSSSLP PPASSKHKTA ERQEKGDKLQ KRPLIPFHHR PSVAEELCME
510 520 530 540 550
QDTPGQKLGL AGIDSSLEVS SSRKYDKQMA VPSRNTSKQM NLNPMDSPHS
560 570 580 590 600
PISPLPPTLS PQPRGQETES LDPPSVPVNP ALYGNGLELQ QLSTLDDRTV
610 620 630 640 650
LVGQRLPLMA EVSETALYCG IRPSNPESSE KWWHSYRLPP SDDAEFRPPE
660 670 680 690 700
LQGERCDAKM EVNSESTALQ RLLAQPNKRF KIWQDKQPQL QPLHFLDPLP
710 720 730 740 750
LSQQPGDSLG EVNDPYTFED GDIKYIFTAN KKCKQGTEKD SLKKNKSEDG
760 770 780 790 800
FGTKDVTTPG HSTPVPDGKN AMSIFSSATK TDVRQDNAAG RAGSSSLTQV
810 820 830 840 850
TDLAPSLHDL DNIFDNSDDD ELGAVSPALR SSKMPAVGTE DRPLGKDGRA
860 870 880 890 900
AVPYPPTVAD LQRMFPTPPS LEQHPAFSPV MNYKDGISSE TVTALGMMES
910 920 930 940 950
PMVSMVSTQL TEFKMEVEDG LGSPKPEEIK DFSYVHKVPS FQPFVGSSMF
960 970 980 990 1000
APLKMLPSHC LLPLKIPDAC LFRPSWAIPP KIEQLPMPPA ATFIRDGYNN
1010 1020 1030 1040 1050
VPSVGSLADP DYLNTPQMNT PVTLNSAAPA SNSGAGVLPS PATPRFSVPT
1060 1070 1080 1090 1100
PRTPRTPRTP RGGGTASGQG SVKYDSTDQG SPASTPSTTR PLNSVEPATM
1110 1120 1130 1140 1150
QPIPEAHSLY VTLILSDSVM NIFKDRNFDS CCICACNMNI KGADVGLYIP
1160 1170 1180 1190 1200
DSSNEDQYRC TCGFSAIMNR KLGYNSGLFL EDELDIFGKN SDIGQAAERR
1210 1220 1230 1240 1250
LMMCQSTFLP QVEGTKKPQE PPISLLLLLQ NQHTQPFASL NFLDYISSNN
1260 1270 1280 1290 1300
RQTLPCVSWS YDRVQADNND YWTECFNALE QGRQYVDNPT GGKVDEALVR
1310 1320 1330 1340 1350
SATVHSWPHS NVLDISMLSS QDVVRMLLSL QPFLQDAIQK KRTGRTWENI
1360 1370 1380 1390 1400
QHVQGPLTWQ QFHKMAGRGT YGSEESPEPL PIPTLLVGYD KDFLTISPFS
1410 1420 1430 1440 1450
LPFWERLLLD PYGGHRDVAY IVVCPENEAL LEGAKTFFRD LSAVYEMCRL
1460 1470 1480 1490 1500
GQHKPICKVL RDGIMRVGKT VAQKLTDELV SEWFNQPWSG EENDNHSRLK
1510 1520 1530 1540 1550
LYAQVCRHHL APYLATLQLD SSLLIPPKYQ TPPAAAQGQA TPGNAGPLAP
1560 1570 1580 1590 1600
NGSAAPPAGS AFNPTSNSSS TNPAASSSAS GSSVPPVSSS ASAPGISQIS
1610 1620 1630 1640 1650
TTSSSGFSGS VGGQNPSTGG ISADRTQGNI GCGGDTDPGQ SSSQPSQDGQ
1660 1670 1680 1690 1700
ESVTERERIG IPTEPDSADS HAHPPAVVIY MVDPFTYAAE EDSTSGNFWL
1710 1720 1730 1740 1750
LSLMRCYTEM LDNLPEHMRN SFILQIVPCQ YMLQTMKDEQ VFYIQYLKSM
1760 1770 1780 1790 1800
AFSVYCQCRR PLPTQIHIKS LTGFGPAASI EMTLKNPERP SPIQLYSPPF
1810 1820 1830 1840 1850
ILAPIKDKQT ELGETFGEAS QKYNVLFVGY CLSHDQRWLL ASCTDLHGEL
1860 1870 1880 1890 1900
LETCVVNIAL PNRSRRSKVS ARKIGLQKLW EWCIGIVQMT SLPWRVVIGR
1910 1920 1930 1940 1950
LGRLGHGELK DWSILLGECS LQTISKKLKD VCRMCGISAA DSPSILSACL
1960 1970 1980 1990 2000
VAMEPQGSFV VMPDAVTMGS VFGRSTALNM QSSQLNTPQD ASCTHILVFP
2010 2020 2030 2040 2050
TSSTIQVAPA NYPNEDGFSP NNDDMFVDLP FPDDMDNDIG ILMTGNLHSS
2060 2070 2080 2090 2100
PNSSPVPSPG SPSGIGVGSH FQHSRSQGER LLSREAPEEL KQQPLALGYF
2110 2120 2130 2140 2150
VSTAKAENLP QWFWSSCPQA QNQCPLFLKA SLHHHISVAQ TDELLPARNS
2160 2170 2180 2190 2200
QRVPHPLDSK TTSDVLRFVL EQYNALSWLT CNPATQDRTS CLPVHFVVLT
2210
QLYNAIMNIL
Length:2,210
Mass (Da):242,602
Last modified:July 5, 2004 - v1
<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:iA8B566B1662B570C
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IRX3A0A3B3IRX3_HUMAN
Mediator of RNA polymerase II trans...
MED13L
2,222Annotation 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>
A0A3B3IS46A0A3B3IS46_HUMAN
Mediator of RNA polymerase II trans...
MED13L
1,605Annotation 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>
H0YHC1H0YHC1_HUMAN
Mediator of RNA polymerase II trans...
MED13L
1,545Annotation 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>
F8VRB8F8VRB8_HUMAN
Mediator of RNA polymerase II trans...
MED13L
1,081Annotation 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>
A0A3B3IS48A0A3B3IS48_HUMAN
Mediator of RNA polymerase II trans...
MED13L
437Annotation 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>
A0A3B3IS36A0A3B3IS36_HUMAN
Mediator of RNA polymerase II trans...
MED13L
168Annotation 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>
A0A3B3IRS4A0A3B3IRS4_HUMAN
Mediator of RNA polymerase II trans...
MED13L
495Annotation 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 BAB14697 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 conflicti295 – 299PQSVA → SISLI in BAA82977 (PubMed:10470851).Curated5
Sequence conflicti861L → S in CAH18186 (PubMed:17974005).Curated1
Sequence conflicti1258S → G in CAH18186 (PubMed:17974005).Curated1
Sequence conflicti1455P → L in BAB14697 (PubMed:14702039).Curated1
Sequence conflicti1577S → N in BAB14697 (PubMed:14702039).Curated1
Sequence conflicti1703L → M in BAB14697 (PubMed:14702039).Curated1
Sequence conflicti1971V → F in BAB14697 (PubMed:14702039).Curated1
Sequence conflicti2194V → A in BAB14697 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076332160 – 174Missing in MRFACD. 1 PublicationAdd BLAST15
Natural variantiVAR_024024251E → G in DTGA1. 1 PublicationCorresponds to variant dbSNP:rs28940309EnsemblClinVar.1
Natural variantiVAR_0240251872R → H in DTGA1. 1 PublicationCorresponds to variant dbSNP:rs28940310EnsemblClinVar.1
Natural variantiVAR_0240262023D → G in DTGA1. 1 PublicationCorresponds to variant dbSNP:rs121918333EnsemblClinVar.1

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
AF515599 mRNA Translation: AAQ08182.1
AY338463 mRNA Translation: AAR08418.1
BC130422 mRNA Translation: AAI30423.1
AL133033 mRNA Translation: CAB61363.1
AL137644 mRNA Translation: CAB70855.1
CR749332 mRNA Translation: CAH18186.1
AB028948 mRNA Translation: BAA82977.2
AK023837 mRNA Translation: BAB14697.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9177.1

Protein sequence database of the Protein Information Resource

More...
PIRi
T42707

NCBI Reference Sequences

More...
RefSeqi
NP_056150.1, NM_015335.4

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.603766
Hs.715095

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000281928; ENSP00000281928; ENSG00000123066

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23389

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23389

UCSC genome browser

More...
UCSCi
uc001tvw.4 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement

<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
AF515599 mRNA Translation: AAQ08182.1
AY338463 mRNA Translation: AAR08418.1
BC130422 mRNA Translation: AAI30423.1
AL133033 mRNA Translation: CAB61363.1
AL137644 mRNA Translation: CAB70855.1
CR749332 mRNA Translation: CAH18186.1
AB028948 mRNA Translation: BAA82977.2
AK023837 mRNA Translation: BAB14697.1 Different initiation.
CCDSiCCDS9177.1
PIRiT42707
RefSeqiNP_056150.1, NM_015335.4
UniGeneiHs.603766
Hs.715095

3D structure databases

ProteinModelPortaliQ71F56
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116964, 28 interactors
CORUMiQ71F56
IntActiQ71F56, 17 interactors
MINTiQ71F56
STRINGi9606.ENSP00000281928

PTM databases

iPTMnetiQ71F56
PhosphoSitePlusiQ71F56

Polymorphism and mutation databases

BioMutaiMED13L
DMDMi74749769

Proteomic databases

EPDiQ71F56
jPOSTiQ71F56
MaxQBiQ71F56
PaxDbiQ71F56
PeptideAtlasiQ71F56
PRIDEiQ71F56
ProteomicsDBi68600

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281928; ENSP00000281928; ENSG00000123066
GeneIDi23389
KEGGihsa:23389
UCSCiuc001tvw.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23389
DisGeNETi23389
EuPathDBiHostDB:ENSG00000123066.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MED13L
HGNCiHGNC:22962 MED13L
HPAiHPA039445
MalaCardsiMED13L
MIMi608771 gene
608808 phenotype
616789 phenotype
neXtProtiNX_Q71F56
OpenTargetsiENSG00000123066
Orphaneti88616 Autosomal recessive non-syndromic intellectual disability
369891 Cardiac anomalies-developmental delay-facial dysmorphism syndrome
860 Congenitally uncorrected transposition of the great arteries
PharmGKBiPA162395233

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3600 Eukaryota
ENOG410XPV2 LUCA
GeneTreeiENSGT00390000013680
HOVERGENiHBG058069
InParanoidiQ71F56
KOiK15164
OMAiGHITVGQ
OrthoDBi177884at2759
PhylomeDBiQ71F56
TreeFamiTF316867

Enzyme and pathway databases

ReactomeiR-HSA-1989781 PPARA activates gene expression
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation

Miscellaneous databases

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

More...
ChiTaRSi
MED13L human

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

More...
GenomeRNAii
23389

Protein Ontology

More...
PROi
PR:Q71F56

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000123066 Expressed in 243 organ(s), highest expression level in forebrain
CleanExiHS_MED13L
ExpressionAtlasiQ71F56 baseline and differential
GenevisibleiQ71F56 HS

Family and domain databases

InterProiView protein in InterPro
IPR009401 Med13_C
IPR021643 Mediator_Med13_N_met/fun
PfamiView protein in Pfam
PF06333 Med13_C, 1 hit
PF11597 Med13_N, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiMD13L_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: Q71F56
Secondary accession number(s): A1L469
, Q68DN4, Q9H8C0, Q9NSY9, Q9UFD8, Q9UPX5
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: July 5, 2004
Last modified: January 16, 2019
This is version 131 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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