Seroatlas · Human Serome Atlas

MED13L

Mediator of RNA polymerase II transcription subunit 13-like

Also known as: KIAA1025, MD13L_HUMAN, THRAP2, TRAP240L

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q71F56
Gene: MED13L
Ensembl: ENSG00000123066
Chromosome: 12
Canonical length: 2210 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Golgi apparatus

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

2210 residues, UniProt reviewed canonical sequence.

>Q71F56|MED13L
     1  MTAAANWVAN GASLEDCHSN LFSLAELTGI KWRRYNFGGH GDCGPIISAP AQDDPILLSF
    61  IRCLQANLLC VWRRDVKPDC KELWIFWWGD EPNLVGVIHH ELQVVEEGLW ENGLSYECRT
   121  LLFKAIHNLL ERCLMDKNFV RIGKWFVRPY EKDEKPVNKS EHLSCAFTFF LHGESNVCTS
   181  VEIAQHQPIY LINEEHIHMA QSSPAPFQVL VSPYGLNGTL TGQAYKMSDP ATRKLIEEWQ
   241  YFYPMVLKKK EESKEEDELG YDDDFPVAVE VIVGGVRMVY PSAFVLISQN DIPVPQSVAS
   301  AGGHIAVGQQ GLGSVKDPSN CGMPLTPPTS PEQAILGESG GMQSAASHLV SQDGGMITMH
   361  SPKRSGKIPP KLHNHMVHRV WKECILNRTQ SKRSQMSTPT LEEEPASNPA TWDFVDPTQR
   421  VSCSCSRHKL LKRCAVGPNR PPTVSQPGFS AGPSSSSSLP PPASSKHKTA ERQEKGDKLQ
   481  KRPLIPFHHR PSVAEELCME QDTPGQKLGL AGIDSSLEVS SSRKYDKQMA VPSRNTSKQM
   541  NLNPMDSPHS PISPLPPTLS PQPRGQETES LDPPSVPVNP ALYGNGLELQ QLSTLDDRTV
   601  LVGQRLPLMA EVSETALYCG IRPSNPESSE KWWHSYRLPP SDDAEFRPPE LQGERCDAKM
   661  EVNSESTALQ RLLAQPNKRF KIWQDKQPQL QPLHFLDPLP LSQQPGDSLG EVNDPYTFED
   721  GDIKYIFTAN KKCKQGTEKD SLKKNKSEDG FGTKDVTTPG HSTPVPDGKN AMSIFSSATK
   781  TDVRQDNAAG RAGSSSLTQV TDLAPSLHDL DNIFDNSDDD ELGAVSPALR SSKMPAVGTE
   841  DRPLGKDGRA AVPYPPTVAD LQRMFPTPPS LEQHPAFSPV MNYKDGISSE TVTALGMMES
   901  PMVSMVSTQL TEFKMEVEDG LGSPKPEEIK DFSYVHKVPS FQPFVGSSMF APLKMLPSHC
   961  LLPLKIPDAC LFRPSWAIPP KIEQLPMPPA ATFIRDGYNN VPSVGSLADP DYLNTPQMNT
  1021  PVTLNSAAPA SNSGAGVLPS PATPRFSVPT PRTPRTPRTP RGGGTASGQG SVKYDSTDQG
  1081  SPASTPSTTR PLNSVEPATM QPIPEAHSLY VTLILSDSVM NIFKDRNFDS CCICACNMNI
  1141  KGADVGLYIP DSSNEDQYRC TCGFSAIMNR KLGYNSGLFL EDELDIFGKN SDIGQAAERR
  1201  LMMCQSTFLP QVEGTKKPQE PPISLLLLLQ NQHTQPFASL NFLDYISSNN RQTLPCVSWS
  1261  YDRVQADNND YWTECFNALE QGRQYVDNPT GGKVDEALVR SATVHSWPHS NVLDISMLSS
  1321  QDVVRMLLSL QPFLQDAIQK KRTGRTWENI QHVQGPLTWQ QFHKMAGRGT YGSEESPEPL
  1381  PIPTLLVGYD KDFLTISPFS LPFWERLLLD PYGGHRDVAY IVVCPENEAL LEGAKTFFRD
  1441  LSAVYEMCRL GQHKPICKVL RDGIMRVGKT VAQKLTDELV SEWFNQPWSG EENDNHSRLK
  1501  LYAQVCRHHL APYLATLQLD SSLLIPPKYQ TPPAAAQGQA TPGNAGPLAP NGSAAPPAGS
  1561  AFNPTSNSSS TNPAASSSAS GSSVPPVSSS ASAPGISQIS TTSSSGFSGS VGGQNPSTGG
  1621  ISADRTQGNI GCGGDTDPGQ SSSQPSQDGQ ESVTERERIG IPTEPDSADS HAHPPAVVIY
  1681  MVDPFTYAAE EDSTSGNFWL LSLMRCYTEM LDNLPEHMRN SFILQIVPCQ YMLQTMKDEQ
  1741  VFYIQYLKSM AFSVYCQCRR PLPTQIHIKS LTGFGPAASI EMTLKNPERP SPIQLYSPPF
  1801  ILAPIKDKQT ELGETFGEAS QKYNVLFVGY CLSHDQRWLL ASCTDLHGEL LETCVVNIAL
  1861  PNRSRRSKVS ARKIGLQKLW EWCIGIVQMT SLPWRVVIGR LGRLGHGELK DWSILLGECS
  1921  LQTISKKLKD VCRMCGISAA DSPSILSACL VAMEPQGSFV VMPDAVTMGS VFGRSTALNM
  1981  QSSQLNTPQD ASCTHILVFP TSSTIQVAPA NYPNEDGFSP NNDDMFVDLP FPDDMDNDIG
  2041  ILMTGNLHSS PNSSPVPSPG SPSGIGVGSH FQHSRSQGER LLSREAPEEL KQQPLALGYF
  2101  VSTAKAENLP QWFWSSCPQA QNQCPLFLKA SLHHHISVAQ TDELLPARNS QRVPHPLDSK
  2161  TTSDVLRFVL EQYNALSWLT CNPATQDRTS CLPVHFVVLT QLYNAIMNIL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MED13L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 50 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 50 nTPM
thymus: 37 nTPM
tongue: 24 nTPM
breast: 19 nTPM
endometrium: 19 nTPM
skin: 18 nTPM

Single-cell type

neutrophils: 3,814 nCPM
neutrophil progenitors: 2,229 nCPM
thymocytes: 1,542 nCPM
monocyte progenitors: 1,431 nCPM
endometrial glandular cells: 1,364 nCPM
microglia: 1,293 nCPM

Immune cell

neutrophil: 3.6 nTPM
basophil: 1.5 nTPM
eosinophil: 1.5 nTPM
plasmacytoid DC: 1.1 nTPM
myeloid DC: 0.7 nTPM
naive B-cell: 0.7 nTPM

Brain region

cerebellum: 83 nTPM
white matter: 48 nTPM
medulla oblongata: 48 nTPM
midbrain: 44 nTPM
hypothalamus: 44 nTPM
thalamus: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MED13L.

Disease | AllUniProt

Conditions MED13L is implicated in, by any mechanism.

Impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) MIM:616789

Disease | GeneticClinVar

303 pathogenic / likely-pathogenic of 1,749 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Dextro-looped transposition of the great arteries
Inborn genetic diseases
Intellectual disability
MED13L-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.06
gnomAD pLI: 1
gnomAD missense Z: 3.69
DepMap mean gene effect: -0.17
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

positive regulation of transcription by RNA polymerase II

Molecular functions

transcription coactivator activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

Mediator complex subunit Med13, C-terminal
MID domain of medPIWI
Mediator complex subunit 13
Mediator complex subunit 13 C-terminal domain
MID domain of medPIWI
Mediator complex, subunit Med13, N-terminal
Mediator complex subunit 13 N-terminal

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MED13L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MED13L as an antibody target. Whether an autoantibody or antibody against MED13L could matter depends on whether native MED13L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MED13L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MED13L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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