Details for: MED13L
Associated with
Other Information
Genular Protein ID: 771741387
Symbol: MD13L_HUMAN
Name: Mediator of RNA polymerase II transcription subunit 13-like
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 14638541
Title: Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).
PubMed ID: 14638541
PubMed ID: 15145061
Title: cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.
PubMed ID: 15145061
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 10470851
Title: Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 10470851
PubMed ID: 12168954
Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
PubMed ID: 12168954
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15175163
Title: A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology.
PubMed ID: 15175163
PubMed ID: 15989967
Title: MED1/TRAP220 exists predominantly in a TRAP/Mediator subpopulation enriched in RNA polymerase II and is required for ER-mediated transcription.
PubMed ID: 15989967
PubMed ID: 18691976
Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
PubMed ID: 18691976
PubMed ID: 19369195
Title: Large-scale proteomics analysis of the human kinome.
PubMed ID: 19369195
PubMed ID: 19690332
Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
PubMed ID: 19690332
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 25167861
Title: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
PubMed ID: 25167861
PubMed ID: 25356899
Title: De novo mutations in moderate or severe intellectual disability.
PubMed ID: 25356899
PubMed ID: 24781760
Title: Further confirmation of the MED13L haploinsufficiency syndrome.
PubMed ID: 24781760
DOI: 10.1038/ejhg.2014.69
PubMed ID: 25758992
PubMed ID: 25712080
Title: Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.
PubMed ID: 25712080
DOI: 10.1038/ejhg.2015.19
Sequence Information:
- Length: 2210
- Mass: 242602
- Checksum: A8B566B1662B570C
- Sequence:
MTAAANWVAN GASLEDCHSN LFSLAELTGI KWRRYNFGGH GDCGPIISAP AQDDPILLSF IRCLQANLLC VWRRDVKPDC KELWIFWWGD EPNLVGVIHH ELQVVEEGLW ENGLSYECRT LLFKAIHNLL ERCLMDKNFV RIGKWFVRPY EKDEKPVNKS EHLSCAFTFF LHGESNVCTS VEIAQHQPIY LINEEHIHMA QSSPAPFQVL VSPYGLNGTL TGQAYKMSDP ATRKLIEEWQ YFYPMVLKKK EESKEEDELG YDDDFPVAVE VIVGGVRMVY PSAFVLISQN DIPVPQSVAS AGGHIAVGQQ GLGSVKDPSN CGMPLTPPTS PEQAILGESG GMQSAASHLV SQDGGMITMH SPKRSGKIPP KLHNHMVHRV WKECILNRTQ SKRSQMSTPT LEEEPASNPA TWDFVDPTQR VSCSCSRHKL LKRCAVGPNR PPTVSQPGFS AGPSSSSSLP PPASSKHKTA ERQEKGDKLQ KRPLIPFHHR PSVAEELCME QDTPGQKLGL AGIDSSLEVS SSRKYDKQMA VPSRNTSKQM NLNPMDSPHS PISPLPPTLS PQPRGQETES LDPPSVPVNP ALYGNGLELQ QLSTLDDRTV LVGQRLPLMA EVSETALYCG IRPSNPESSE KWWHSYRLPP SDDAEFRPPE LQGERCDAKM EVNSESTALQ RLLAQPNKRF KIWQDKQPQL QPLHFLDPLP LSQQPGDSLG EVNDPYTFED GDIKYIFTAN KKCKQGTEKD SLKKNKSEDG FGTKDVTTPG HSTPVPDGKN AMSIFSSATK TDVRQDNAAG RAGSSSLTQV TDLAPSLHDL DNIFDNSDDD ELGAVSPALR SSKMPAVGTE DRPLGKDGRA AVPYPPTVAD LQRMFPTPPS LEQHPAFSPV MNYKDGISSE TVTALGMMES PMVSMVSTQL TEFKMEVEDG LGSPKPEEIK DFSYVHKVPS FQPFVGSSMF APLKMLPSHC LLPLKIPDAC LFRPSWAIPP KIEQLPMPPA ATFIRDGYNN VPSVGSLADP DYLNTPQMNT PVTLNSAAPA SNSGAGVLPS PATPRFSVPT PRTPRTPRTP RGGGTASGQG SVKYDSTDQG SPASTPSTTR PLNSVEPATM QPIPEAHSLY VTLILSDSVM NIFKDRNFDS CCICACNMNI KGADVGLYIP DSSNEDQYRC TCGFSAIMNR KLGYNSGLFL EDELDIFGKN SDIGQAAERR LMMCQSTFLP QVEGTKKPQE PPISLLLLLQ NQHTQPFASL NFLDYISSNN RQTLPCVSWS YDRVQADNND YWTECFNALE QGRQYVDNPT GGKVDEALVR SATVHSWPHS NVLDISMLSS QDVVRMLLSL QPFLQDAIQK KRTGRTWENI QHVQGPLTWQ QFHKMAGRGT YGSEESPEPL PIPTLLVGYD KDFLTISPFS LPFWERLLLD PYGGHRDVAY IVVCPENEAL LEGAKTFFRD LSAVYEMCRL GQHKPICKVL RDGIMRVGKT VAQKLTDELV SEWFNQPWSG EENDNHSRLK LYAQVCRHHL APYLATLQLD SSLLIPPKYQ TPPAAAQGQA TPGNAGPLAP NGSAAPPAGS AFNPTSNSSS TNPAASSSAS GSSVPPVSSS ASAPGISQIS TTSSSGFSGS VGGQNPSTGG ISADRTQGNI GCGGDTDPGQ SSSQPSQDGQ ESVTERERIG IPTEPDSADS HAHPPAVVIY MVDPFTYAAE EDSTSGNFWL LSLMRCYTEM LDNLPEHMRN SFILQIVPCQ YMLQTMKDEQ VFYIQYLKSM AFSVYCQCRR PLPTQIHIKS LTGFGPAASI EMTLKNPERP SPIQLYSPPF ILAPIKDKQT ELGETFGEAS QKYNVLFVGY CLSHDQRWLL ASCTDLHGEL LETCVVNIAL PNRSRRSKVS ARKIGLQKLW EWCIGIVQMT SLPWRVVIGR LGRLGHGELK DWSILLGECS LQTISKKLKD VCRMCGISAA DSPSILSACL VAMEPQGSFV VMPDAVTMGS VFGRSTALNM QSSQLNTPQD ASCTHILVFP TSSTIQVAPA NYPNEDGFSP NNDDMFVDLP FPDDMDNDIG ILMTGNLHSS PNSSPVPSPG SPSGIGVGSH FQHSRSQGER LLSREAPEEL KQQPLALGYF VSTAKAENLP QWFWSSCPQA QNQCPLFLKA SLHHHISVAQ TDELLPARNS QRVPHPLDSK TTSDVLRFVL EQYNALSWLT CNPATQDRTS CLPVHFVVLT QLYNAIMNIL
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.