Details for: SETD5
Associated with
Other Information
Genular Protein ID: 2367696465
Symbol: SETD5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11214970
Title: Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PubMed ID: 11214970
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
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: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
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: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 22939622
Title: Prdm3 and Prdm16 are H3K9me1 methyltransferases required for mammalian heterochromatin integrity.
PubMed ID: 22939622
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 24680889
Title: De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
PubMed ID: 24680889
PubMed ID: 25138099
Title: Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
PubMed ID: 25138099
PubMed ID: 27375234
Title: SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
PubMed ID: 27375234
DOI: 10.1002/ajmg.a.37832
PubMed ID: 28905509
Title: De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.
PubMed ID: 28905509
DOI: 10.1002/ajmg.a.38461
PubMed ID: 28549204
Title: SETD5 gene variant associated with mild intellectual disability - a case report.
PubMed ID: 28549204
DOI: 10.4238/gmr16029615
PubMed ID: 28881385
Title: Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
PubMed ID: 28881385
DOI: 10.1111/cge.13132
Sequence Information:
- Length: 1442
- Mass: 157515
- Checksum: E3CDBA72E2ED0DB4
- Sequence:
MSIAIPLGVT TSDTSYSDMA AGSDPESVEA SPAVNEKSVY STHNYGTTQR HGCRGLPYAT IIPRSDLNGL PSPVEERCGD SPNSEGETVP TWCPCGLSQD GFLLNCDKCR GMSRGKVIRL HRRKQDNISG GDSSATESWD EELSPSTVLY TATQHTPTSI TLTVRRTKPK KRKKSPEKGR AAPKTKKIKN SPSEAQNLDE NTTEGWENRI RLWTDQYEEA FTNQYSADVQ NALEQHLHSS KEFVGKPTIL DTINKTELAC NNTVIGSQMQ LQLGRVTRVQ KHRKILRAAR DLALDTLIIE YRGKVMLRQQ FEVNGHFFKK PYPFVLFYSK FNGVEMCVDA RTFGNDARFI RRSCTPNAEV RHMIADGMIH LCIYAVSAIT KDAEVTIAFD YEYSNCNYKV DCACHKGNRN CPIQKRNPNA TELPLLPPPP SLPTIGAETR RRKARRKELE MEQQNEASEE NNDQQSQEVP EKVTVSSDHE EVDNPEEKPE EEKEEVIDDQ ENLAHSRRTR EDRKVEAIMH AFENLEKRKK RRDQPLEQSN SDVEITTTTS ETPVGEETKT EAPESEVSNS VSNVTIPSTP QSVGVNTRRS SQAGDIAAEK LVPKPPPAKP SRPRPKSRIS RYRTSSAQRL KRQKQANAQQ AELSQAALEE GGSNSLVTPT EAGSLDSSGE NRPLTGSDPT VVSITGSHVN RAASKYPKTK KYLVTEWLND KAEKQECPVE CPLRITTDPT VLATTLNMLP GLIHSPLICT TPKHYIRFGS PFIPERRRRP LLPDGTFSSC KKRWIKQALE EGMTQTSSVP QETRTQHLYQ SNENSSSSSI CKDNADLLSP LKKWKSRYLM EQNVTKLLRP LSPVTPPPPN SGSKSPQLAT PGSSHPGEEE CRNGYSLMFS PVTSLTTASR CNTPLQFELC HRKDLDLAKV GYLDSNTNSC ADRPSLLNSG HSDLAPHPSL GPTSETGFPS RSGDGHQTLV RNSDQAFRTE FNLMYAYSPL NAMPRADGLY RGSPLVGDRK PLHLDGGYCS PAEGFSSRYE HGLMKDLSRG SLSPGGERAC EGVPSAPQNP PQRKKVSLLE YRKRKQEAKE NSAGGGGDSA QSKSKSAGAG QGSSNSVSDT GAHGVQGSSA RTPSSPHKKF SPSHSSMSHL EAVSPSDSRG TSSSHCRPQE NISSRWMVPT SVERLREGGS IPKVLRSSVR VAQKGEPSPT WESNITEKDS DPADGEGPET LSSALSKGAT VYSPSRYSYQ LLQCDSPRTE SQSLLQQSSS PFRGHPTQSP GYSYRTTALR PGNPPSHGSS ESSLSSTSYS SPAHPVSTDS LAPFTGTPGY FSSQPHSGNS TGSNLPRRSC PSSAASPTLQ GPSDSPTSDS VSQSSTGTLS STSFPQNSRS SLPSDLRTIS LPSAGQSAVY QASRVSAVSN SQHYPHRGSG GVHQYRLQPL QGSGVKTQTG LS
Genular Protein ID: 879809339
Symbol: E7EWN3_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
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: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
Sequence Information:
- Length: 1461
- Mass: 159436
- Checksum: 0712A2A14AB9D37E
- Sequence:
MSIAIPLGVT TSDTSYSDMA AGSDPESVEA SPAVNEKSVY STHNYGTTQR HGCRGLPYAD HNYGAPPPPT PPASPPVQTI IPRSDLNGLP SPVEERCGDS PNSEGETVPT WCPCGLSQDG FLLNCDKCRG MSRGKVIRLH RRKQDNISGG DSSATESWDE ELSPSTVLYT ATQHTPTSIT LTVRRTKPKK RKKSPEKGRA APKTKKIKNS PSEAQNLDEN TTEGWENRIR LWTDQYEEAF TNQYSADVQN ALEQHLHSSK EFVGKPTILD TINKTELACN NTVIGSQMQL QLGRVTRVQK HRKILRAARD LALDTLIIEY RGKVMLRQQF EVNGHFFKKP YPFVLFYSKF NGVEMCVDAR TFGNDARFIR RSCTPNAEVR HMIADGMIHL CIYAVSAITK DAEVTIAFDY EYSNCNYKVD CACHKGNRNC PIQKRNPNAT ELPLLPPPPS LPTIGAETRR RKARRKELEM EQQNEASEEN NDQQSQEVPE KVTVSSDHEE VDNPEEKPEE EKEEVIDDQE NLAHSRRTRE DRKVEAIMHA FENLEKRKKR RDQPLEQSNS DVEITTTTSE TPVGEETKTE APESEVSNSV SNVTIPSTPQ SVGVNTRRSS QAGDIAAEKL VPKPPPAKPS RPRPKSRISR YRTSSAQRLK RQKQANAQQA ELSQAALEEG GSNSLVTPTE AGSLDSSGEN RPLTGSDPTV VSITGSHVNR AASKYPKTKK YLVTEWLNDK AEKQECPVEC PLRITTDPTV LATTLNMLPG LIHSPLICTT PKHYIRFGSP FIPERRRRPL LPDGTFSSCK KRWIKQALEE GMTQTSSVPQ ETRTQHLYQS NENSSSSSIC KDNADLLSPL KKWKSRYLME QNVTKLLRPL SPVTPPPPNS GSKSPQLATP GSSHPGEEEC RNGYSLMFSP VTSLTTASRC NTPLQFELCH RKDLDLAKVG YLDSNTNSCA DRPSLLNSGH SDLAPHPSLG PTSETGFPSR SGDGHQTLVR NSDQAFRTEF NLMYAYSPLN AMPRADGLYR GSPLVGDRKP LHLDGGYCSP AEGFSSRYEH GLMKDLSRGS LSPGGERACE GVPSAPQNPP QRKKVSLLEY RKRKQEAKEN SAGGGGDSAQ SKSKSAGAGQ GSSNSVSDTG AHGVQGSSAR TPSSPHKKFS PSHSSMSHLE AVSPSDSRGT SSSHCRPQEN ISSRWMVPTS VERLREGGSI PKVLRSSVRV AQKGEPSPTW ESNITEKDSD PADGEGPETL SSALSKGATV YSPSRYSYQL LQCDSPRTES QSLLQQSSSP FRGHPTQSPG YSYRTTALRP GNPPSHGSSE SSLSSTSYSS PAHPVSTDSL APFTGTPGYF SSQPHSGNST GSNLPRRSCP SSAASPTLQG PSDSPTSDSV SQSSTGTLSS TSFPQNSRSS LPSDLRTISL PSAGQSAVYQ ASRVSAVSNS QHYPHRGSGG VHQYRLQPLQ GSGVKTQTGL S
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.