Entity Details

Primary name SET1A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15047
EntryNameSET1A_HUMAN
FullNameHistone-lysine N-methyltransferase SETD1A
TaxID9606
Evidenceevidence at protein level
Length1707
SequenceStatuscomplete
DateCreated2005-06-21
DateModified2021-06-02

Ontological Relatives

GenesSETD1A

GO terms

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GOName
GO:0000785 chromatin
GO:0003723 RNA binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0007420 brain development
GO:0008013 beta-catenin binding
GO:0008134 transcription factor binding
GO:0016607 nuclear speck
GO:0035097 histone methyltransferase complex
GO:0042800 histone methyltransferase activity (H3-K4 specific)
GO:0044648 histone H3-K4 dimethylation
GO:0045652 regulation of megakaryocyte differentiation
GO:0048188 Set1C/COMPASS complex
GO:0080182 histone H3-K4 trimethylation
GO:0097692 histone H3-K4 monomethylation
GO:1902036 regulation of hematopoietic stem cell differentiation
GO:1902275 regulation of chromatin organization

Subcellular Location

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Subcellular Location
Chromosome
Nucleus speckle

Domains

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DomainNameCategoryType
IPR000504 RNA recognition motif domainDomainDomain
IPR001214 SET domainDomainDomain
IPR003616 Post-SET domainDomainDomain
IPR012677 Nucleotide-binding alpha-beta plait domain superfamilyFamilyHomologous superfamily
IPR024657 COMPASS complex Set1 subunit, N-SET domainDomainDomain
IPR034467 Set1A, RNA recognition motifDomainDomain
IPR035979 RNA-binding domain superfamilyFamilyHomologous superfamily
IPR037841 Histone-lysine N-methyltransferase SETD1AFamilyFamily
IPR044570 Histone-lysine N-methyltransferase Set1-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
618832 OMIMEpilepsy, early-onset, with or without developmental delay (EPEDD)An autosomal dominant neurologic disorder characterized by early onset of generalized tonic-clonic seizures associated with sharp wave and sharp slow wave discharges on EEG. Some EPEDD patients have normal psychomotor development and normal brain imaging, whereas others may show developmental delay associated with abnormalities on brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Interactions

22 interactions

InteractorPartnerSourcesPublicationsLink
SET1A_HUMANLBP_HUMANBioGRID, IntAct21988832 details
SET1A_HUMANWDR5_HUMANBioGRID, IntAct, MINT, UniProt15960975 16253997 17355966 20305087 22266653 22665483 23453808 23870121 24981860 26186194 27563068 27705803 28514442 29474905 31076518 details
SET1A_HUMANDPY30_HUMANBioGRID, IntAct, UniProt17500065 23453808 23870121 24981860 31076518 details
SET1A_HUMANWDR82_HUMANBioGRID, IntAct, MINT17355966 17998332 20516061 23870121 24981860 27563068 29474905 31076518 details
SET1A_HUMANASH2L_HUMANBioGRID, DIP, IntAct, MINT16253997 17998332 20305087 21653943 22939629 23453808 23870121 24981860 26886794 27563068 29474905 31076518 34079125 details
SET1A_HUMANRBBP5_HUMANBioGRID, IntAct16253997 17355966 17998332 20305087 20516061 21653943 22147691 22939629 23453808 23870121 24981860 27563068 29474905 29785026 31076518 details
SET1A_HUMANCXXC1_HUMANBioGRID, IntAct16253997 17355966 17998332 18082152 18680430 19410543 19433449 19951360 23453808 23870121 24981860 26496610 27563068 28514442 29474905 31076518 details
SET1A_HUMANP53_HUMANBioGRID, IntAct23870121 29474905 31076518 details
SET1A_HUMANEP300_HUMANBioGRID, IntAct23870121 details
SET1A_HUMANCBP_HUMANBioGRID16061203 details
SET1A_HUMANH32_HUMANBioGRID22266653 details
SET1A_HUMANH31_HUMANBioGRID19410543 23453808 23870121 details
SET1A_HUMANHCFC1_HUMANBioGRID, IntAct12670868 17998332 24981860 27563068 31076518 details
SET1A_HUMANMYB_HUMANIntAct20195357 details
SET1A_HUMANRPB1_HUMANBioGRID17998332 details
SET1A_HUMANUSF1_HUMANBioGRID17846119 21653943 details
SET1A_HUMANSMCA1_HUMANBioGRID21653943 details
SET1A_HUMANUVSSA_HUMANBioGRID22902626 details
SET1A_HUMANSET1B_HUMANBioGRID17355966 24981860 details
SET1A_HUMANZN207_HUMANBioGRID26472760 details
SET1A_HUMANCCNK_HUMANBioGRID29474905 details
SET1A_HUMANRAD18_HUMANBioGRID31076518 details