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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-Experimental evidence at protein leveli

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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Enzyme and pathway databases

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

Names & Taxonomyi

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
Gene namesi
Name:MED13L
Synonyms:KIAA1025, PROSIT240, THRAP2, TRAP240L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:22962. MED13L.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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
Natural variantiVAR_024024251E → G in DTGA1. 1 PublicationCorresponds to variant rs28940309dbSNPEnsembl.1
Natural variantiVAR_0240251872R → H in DTGA1. 1 PublicationCorresponds to variant rs28940310dbSNPEnsembl.1
Natural variantiVAR_0240262023D → G in DTGA1. 1 PublicationCorresponds to variant rs121918333dbSNPEnsembl.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).

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

DisGeNETi23389.
MalaCardsiMED13L.
MIMi608808. phenotype.
616789. phenotype.
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.

Polymorphism and mutation databases

BioMutaiMED13L.
DMDMi74749769.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000763521 – 2210Mediator of RNA polymerase II transcription subunit 13-likeAdd BLAST2210

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei553PhosphoserineCombined sources1
Modified residuei560PhosphoserineCombined sources1
Modified residuei817PhosphoserineCombined sources1
Modified residuei826PhosphoserineCombined sources1
Modified residuei923PhosphoserineCombined sources1
Modified residuei2083PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ71F56.
MaxQBiQ71F56.
PaxDbiQ71F56.
PeptideAtlasiQ71F56.
PRIDEiQ71F56.

PTM databases

iPTMnetiQ71F56.
PhosphoSitePlusiQ71F56.

Expressioni

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

BgeeiENSG00000123066.
CleanExiHS_MED13L.
ExpressionAtlasiQ71F56. baseline and differential.
GenevisibleiQ71F56. HS.

Organism-specific databases

HPAiHPA039445.

Interactioni

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

BioGridi116964. 25 interactors.
IntActiQ71F56. 15 interactors.
STRINGi9606.ENSP00000281928.

Structurei

3D structure databases

ProteinModelPortaliQ71F56.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1380 – 1401Leucine-zipperAdd BLAST22

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi669 – 673LXXLL motif 15
Motifi1225 – 1229LXXLL motif 25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1566 – 1610Ser-richAdd BLAST45

Sequence similaritiesi

Belongs to the Mediator complex subunit 13 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3600. Eukaryota.
ENOG410XPV2. LUCA.
GeneTreeiENSGT00390000013680.
HOVERGENiHBG058069.
InParanoidiQ71F56.
KOiK15164.
OMAiPQIGSSM.
OrthoDBiEOG091G006C.
PhylomeDBiQ71F56.
TreeFamiTF316867.

Family and domain databases

InterProiIPR009401. Mediator_Med13.
IPR021643. Mediator_Med13_N_met/fun.
[Graphical view]
PfamiPF06333. Med13_C. 1 hit.
PF11597. Med13_N. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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
Checksum:iA8B566B1662B570C
GO

Sequence cautioni

The sequence BAB14697 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs28940309dbSNPEnsembl.1
Natural variantiVAR_0240251872R → H in DTGA1. 1 PublicationCorresponds to variant rs28940310dbSNPEnsembl.1
Natural variantiVAR_0240262023D → G in DTGA1. 1 PublicationCorresponds to variant rs121918333dbSNPEnsembl.1

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Chromosomal rearrangement

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. 25 interactors.
IntActiQ71F56. 15 interactors.
STRINGi9606.ENSP00000281928.

PTM databases

iPTMnetiQ71F56.
PhosphoSitePlusiQ71F56.

Polymorphism and mutation databases

BioMutaiMED13L.
DMDMi74749769.

Proteomic databases

EPDiQ71F56.
MaxQBiQ71F56.
PaxDbiQ71F56.
PeptideAtlasiQ71F56.
PRIDEiQ71F56.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23389.
DisGeNETi23389.
GeneCardsiMED13L.
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.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3600. Eukaryota.
ENOG410XPV2. LUCA.
GeneTreeiENSGT00390000013680.
HOVERGENiHBG058069.
InParanoidiQ71F56.
KOiK15164.
OMAiPQIGSSM.
OrthoDBiEOG091G006C.
PhylomeDBiQ71F56.
TreeFamiTF316867.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiMED13L. human.
GenomeRNAii23389.
PROiQ71F56.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000123066.
CleanExiHS_MED13L.
ExpressionAtlasiQ71F56. baseline and differential.
GenevisibleiQ71F56. HS.

Family and domain databases

InterProiIPR009401. Mediator_Med13.
IPR021643. Mediator_Med13_N_met/fun.
[Graphical view]
PfamiPF06333. Med13_C. 1 hit.
PF11597. Med13_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMD13L_HUMAN
AccessioniPrimary (citable) accession number: Q71F56
Secondary accession number(s): A1L469
, Q68DN4, Q9H8C0, Q9NSY9, Q9UFD8, Q9UPX5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 6, 2005
Last sequence update: July 5, 2004
Last modified: November 2, 2016
This is version 119 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.