SETD1B

Protein identityUniProt · HPA

UniProt accession

Q9UPS6

Gene

SETD1B

Ensembl

ENSG00000139718

Chromosome

12

Canonical length

1966 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm

Quaternary structure

Homotrimer

OverviewNCBI Gene

SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

1966 residues, UniProt reviewed canonical sequence.

>Q9UPS6|SETD1B
     1  MENSHPPHHH HQQPPPQPGP SGERRNHHWR SYKLMIDPAL KKGHHKLYRY DGQHFSLAMS
    61  SNRPVEIVED PRVVGIWTKN KELELSVPKF KIDEFYVGPV PPKQVTFAKL NDNIRENFLR
   121  DMCKKYGEVE EVEILYNPKT KKHLGIAKVV FATVRGAKDA VQHLHSTSVM GNIIHVELDT
   181  KGETRMRFYE LLVTGRYTPQ TLPVGELDAV SPIVNETLQL SDALKRLKDG GLSAGCGSGS
   241  SSVTPNSGGT PFSQDTAYSS CRLDTPNSYG QGTPLTPRLG TPFSQDSSYS SRQPTPSYLF
   301  SQDPAVTFKA RRHESKFTDA YNRRHEHHYV HNSPAVTAVA GATAAFRGSS DLPFGAVGGT
   361  GGSSGPPFKA QPQDSATFAH TPPPAQATPA PGFKSAFSPY QTPVAHFPPP PEEPTATAAF
   421  GARDSGEFRR APAPPPLPPA EPLAKEKPGT PPGPPPPDTN SMELGGRPTF GWSPEPCDSP
   481  GTPTLESSPA GPEKPHDSLD SRIEMLLKEQ RTKLLFLREP DSDTELQMEG SPISSSSSQL
   541  SPLAPFGTNS QPGFRGPTPP SSRPSSTGLE DISPTPLPDS DEDEELDLGL GPRPPPEPGP
   601  PDPAGLLSQT AEVALDLVGD RTPTSEKMDE GQQSSGEDME ISDDEMPSAP ITSADCPKPM
   661  VVTPGAAAVA APSVLAPTLP LPPPPGFPPL PPPPPPPPPQ PGFPMPPPLP PPPPPPPPAH
   721  PAVTVPPPPL PAPPGVPPPP ILPPLPPFPP GLFPVMQVDM SHVLGGQWGG MPMSFQMQTQ
   781  VLSRLMTGQG ACPYPPFMAA AAAAASAGLQ FVNLPPYRGP FSLSNSGPGR GQHWPPLPKF
   841  DPSVPPPGYM PRQEDPHKAT VDGVLLVVLK ELKAIMKRDL NRKMVEVVAF RAFDEWWDKK
   901  ERMAKASLTP VKSGEHKDED RPKPKDRIAS CLLESWGKGE GLGYEGLGLG IGLRGAIRLP
   961  SFKVKRKEPP DTTSSGDQKR LRPSTSVDEE DEESERERDR DMADTPCELA KRDPKGVGVR
  1021  RRPARPLELD SGGEEDEKES LSASSSSSAS SSSGSSTTSP SSSASDKEEE QESTEEEEEA
  1081  EEEEEEEVPR SQLSSSSTSS TSDKDDDDDD SDDRDESEND DEDTALSEAS EKDEGDSDEE
  1141  ETVSIVTSKA EATSSSESSE SSEFESSSES SPSSSEDEEE VVAREEEEEE EEEEMVAEES
  1201  MASAGPEDFE QDGEEAALAP GAPAVDSLGM EEEVDIETEA VAPEERPSML DEPPLPVGVE
  1261  EPADSREPPE EPGLSQEGAM LLSPEPPAKE VEARPPLSPE RAPEHDLEVE PEPPMMLPLP
  1321  LQPPLPPPRP PRPPSPPPEP ETTDASHPSV PPEPLAEDHP PHTPGLCGSL AKSQSTETVP
  1381  ATPGGEPPLS GGSSGLSLSS PQVPGSPFSY PAPSPSLSSG GLPRTPGRDF SFTPTFSEPS
  1441  GPLLLPVCPL PTGRRDERSG PLASPVLLET GLPLPLPLPL PLPLALPAVL RAQARAPTPL
  1501  PPLLPAPLAS CPPPMKRKPG RPRRSPPSML SLDGPLVRPP AGAALGRELL LLPGQPQTPV
  1561  FPSTHDPRTV TLDFRNAGIP APPPPLPPQP PPPPPPPPVE PTKLPFKELD NQWPSEAIPP
  1621  GPRGRDEVTE EYMELAKSRG PWRRPPKKRH EDLVPPAGSP ELSPPQPLFR PRSEFEEMTI
  1681  LYDIWNGGID EEDIRFLCVT YERLLQQDNG MDWLNDTLWV YHPSTSLSSA KKKKRDDGIR
  1741  EHVTGCARSE GFYTIDKKDK LRYLNSSRAS TDEPPADTQG MSIPAQPHAS TRAGSERRSE
  1801  QRRLLSSFTG SCDSDLLKFN QLKFRKKKLK FCKSHIHDWG LFAMEPIAAD EMVIEYVGQN
  1861  IRQVIADMRE KRYEDEGIGS SYMFRVDHDT IIDATKCGNF ARFINHSCNP NCYAKVITVE
  1921  SQKKIVIYSK QHINVNEEIT YDYKFPIEDV KIPCLCGSEN CRGTLN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SETD1B 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)

0.61

Highest tissue expression

29 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SETD1B.

Disease | AllUniProt

Conditions SETD1B is implicated in, by any mechanism.

• Intellectual developmental disorder with seizures and language delay (IDDSELD) MIM:619000

Disease | GeneticClinVar

98 pathogenic / likely-pathogenic of 726 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual developmental disorder with seizures and language delay
• Inborn genetic diseases
• Neurodevelopmental disorder
• SETD1B-related disorder
• Neoplasm

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)

0.15

gnomAD pLI

1

gnomAD missense Z

4.67

DepMap mean gene effect

-0.2

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• methylation

Molecular functions

• histone H3 methyltransferase activity
• histone H3K4 monomethyltransferase activity
• RNA binding

Cellular components

• chromosome
• cytoplasm
• histone methyltransferase complex
• nuclear speck
• nucleoplasm
• nucleus
• Set1C/COMPASS complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• SET domain
• Post-SET domain
• Nucleotide-binding alpha-beta plait domain superfamily
• COMPASS complex Set1 subunit, N-SET domain
• RNA-binding domain superfamily
• Histone-lysine N-methyltransferase SETD1A/B-like, SET domain
• Histone-lysine N-methyltransferase Set1-like
• SET domain superfamily
• RNA recognition motif
• SET domain
• COMPASS (Complex proteins associated with Set1p) component N
• Set1B, RNA recognition motif

KeywordsUniProt

• Activator
• Chromatin regulator
• Chromosome
• Coiled coil
• Cytoplasm
• Epilepsy
• Intellectual disability
• Methyltransferase
• Nucleus
• Phosphoprotein
• RNA-binding
• S-adenosyl-L-methionine
• Transcription
• Transcription regulation
• Transferase

InteractionsUniProt · HPA

Protein binding partners of SETD1B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HCFC1
• RBM15
• WDR82
• ASH2L