Human Gene MED13L (ENST00000281928.9) from GENCODE V43
  Description: Homo sapiens mediator complex subunit 13L (MED13L), mRNA. (from RefSeq NM_015335)
RefSeq Summary (NM_015335): The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010].
Gencode Transcript: ENST00000281928.9
Gencode Gene: ENSG00000123066.9
Transcript (Including UTRs)
   Position: hg38 chr12:115,958,576-116,277,693 Size: 319,118 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg38 chr12:115,961,266-116,277,131 Size: 315,866 Coding Exon Count: 31 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-02-17 13:02:02

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr12:115,958,576-116,277,693)mRNA (may differ from genome)Protein (2210 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblEntrez GeneExonPrimerGencode

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Mediator of RNA polymerase II transcription subunit 13-like; AltName: Full=Mediator complex subunit 13-like; AltName: Full=Thyroid hormone receptor-associated protein 2; AltName: Full=Thyroid hormone receptor-associated protein complex 240 kDa component-like;
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.
SUBUNIT: 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.
TISSUE SPECIFICITY: Highly expressed in brain (cerebellum), heart (aorta), skeletal muscle, kidney, placenta and peripheral blood leukocytes. Highly expressed in fetal brain.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Defects in MED13L are a cause of transposition of the great arteries dextro-looped type 1 (DTGA1) [MIM:608808]. A 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. Patients often have atrial and/or ventricular septal defects or other types of shunting that allow some mixing between the circulations in order to support life minimally, but surgical intervention is always required.
DISEASE: Note=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).
SIMILARITY: Belongs to the Mediator complex subunit 13 family.
SEQUENCE CAUTION: Sequence=BAB14697.1; Type=Erroneous initiation;

-  Primer design for this transcript

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: MED13L
Diseases sorted by gene-association score: mental retardation and distinctive facial features with or without cardiac defects* (1369), transposition of the great arteries, dextro-looped 1* (1331), alacrima, achalasia, and mental retardation syndrome* (179), intellectual disability* (123), autosomal recessive non-syndromic intellectual disability* (62), transposition of the great arteries (53), dextro-looped transposition of the great arteries* (24), med13l haploinsufficiency syndrome (18), ohdo syndrome (9), med23 (8), patent foramen ovale (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.67 RPKM in Uterus
Total median expression: 522.50 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -363.10562-0.646 Picture PostScript Text
3' UTR -645.302690-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009401 - Mediator_Med13
IPR021643 - Mediator_Med13_N_met/fun

Pfam Domains:
PF06333 - Mediator complex subunit 13 C-terminal
PF11597 - Mediator complex subunit 13 N-terminal

ModBase Predicted Comparative 3D Structure on Q71F56
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001104 RNA polymerase II transcription cofactor activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0016592 mediator complex

-  Descriptions from all associated GenBank mRNAs
  AL133033 - Homo sapiens mRNA; cDNA DKFZp586E041 (from clone DKFZp586E041); partial cds.
AY338463 - Homo sapiens thyroid hormone receptor-associated protein complex 240 kDa component-like mRNA, complete cds.
AB028948 - Homo sapiens mRNA for KIAA1025 protein, partial cds.
AF515599 - Homo sapiens PROSIT240 mRNA, complete cds.
CR749332 - Homo sapiens mRNA; cDNA DKFZp781D0112 (from clone DKFZp781D0112).
BC130422 - Homo sapiens mediator complex subunit 13-like, mRNA (cDNA clone MGC:163294 IMAGE:40146453), complete cds.
AK127706 - Homo sapiens cDNA FLJ45806 fis, clone NT2RI3008179, weakly similar to Homo sapiens thyroid hormone receptor-associated protein, 240 kDa subunit (TRAP240).
BC038768 - Homo sapiens cDNA clone IMAGE:5270561.
AL137644 - Homo sapiens mRNA; cDNA DKFZp586B0924 (from clone DKFZp586B0924); partial cds.
JD248878 - Sequence 229902 from Patent EP1572962.
JD517050 - Sequence 498074 from Patent EP1572962.
JD045569 - Sequence 26593 from Patent EP1572962.
JD168418 - Sequence 149442 from Patent EP1572962.
JD236423 - Sequence 217447 from Patent EP1572962.
JD182390 - Sequence 163414 from Patent EP1572962.
AK023837 - Homo sapiens cDNA FLJ13775 fis, clone PLACE4000369, moderately similar to Homo sapiens thyroid hormone receptor-associated protein complex component TRAP240 mRNA.
JD312720 - Sequence 293744 from Patent EP1572962.
JD107369 - Sequence 88393 from Patent EP1572962.
JD503680 - Sequence 484704 from Patent EP1572962.
JD358612 - Sequence 339636 from Patent EP1572962.
JD468757 - Sequence 449781 from Patent EP1572962.
JD248245 - Sequence 229269 from Patent EP1572962.
JD412318 - Sequence 393342 from Patent EP1572962.
JD456223 - Sequence 437247 from Patent EP1572962.
JD349832 - Sequence 330856 from Patent EP1572962.
JD508719 - Sequence 489743 from Patent EP1572962.
JD265501 - Sequence 246525 from Patent EP1572962.
JD304355 - Sequence 285379 from Patent EP1572962.
JD133267 - Sequence 114291 from Patent EP1572962.
JD427014 - Sequence 408038 from Patent EP1572962.
JD290102 - Sequence 271126 from Patent EP1572962.
JD164662 - Sequence 145686 from Patent EP1572962.
JD556060 - Sequence 537084 from Patent EP1572962.
JD185832 - Sequence 166856 from Patent EP1572962.
JD433931 - Sequence 414955 from Patent EP1572962.
AK025348 - Homo sapiens cDNA: FLJ21695 fis, clone COL09653.
JC506887 - Sequence 255 from Patent EP2733220.
JC737999 - Sequence 255 from Patent WO2014075939.
AK025280 - Homo sapiens cDNA: FLJ21627 fis, clone COL08058.
KX404976 - Homo sapiens isolate circ2 clone 1 circular RNA circRNA, complete sequence.
KX404981 - Homo sapiens isolate circ4 clone 3 circular RNA circRNA, complete sequence.
KX404979 - Homo sapiens isolate circ4 clone 1 circular RNA circRNA, complete sequence.
JD281086 - Sequence 262110 from Patent EP1572962.
JD155539 - Sequence 136563 from Patent EP1572962.
JD248746 - Sequence 229770 from Patent EP1572962.
JD483903 - Sequence 464927 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q71F56 (Reactome details) participates in the following event(s):

R-HSA-381309 PPARG:RXRA heterodimer binds to fatty acid-like ligands
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: A1L469, ENST00000281928.1, ENST00000281928.2, ENST00000281928.3, ENST00000281928.4, ENST00000281928.5, ENST00000281928.6, ENST00000281928.7, ENST00000281928.8, KIAA1025, MD13L_HUMAN, NM_015335, PROSIT240, Q68DN4, Q71F56, Q9H8C0, Q9NSY9, Q9UFD8, Q9UPX5, THRAP2, TRAP240L, uc001tvw.1, uc001tvw.2, uc001tvw.3, uc001tvw.4, uc001tvw.5, uc001tvw.6
UCSC ID: ENST00000281928.9
RefSeq Accession: NM_015335
Protein: Q71F56 (aka MD13L_HUMAN)
CCDS: CCDS9177.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.