SETD1A - SET domain containing 1A, histone lysine methyltransferase Gene

Also Known as Set1; EPEDD; KMT2F; Set1A; NEDSID

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9739

About SETD1A

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,957,754-30,984,664 (from NCBI)

This gene has 5 transcripts (splice variants), 67 orthologues, 19 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.6), bone marrow (RPKM 6.2) and 25 other tissues.

Summary

The protein encoded by this gene is a component of a Histone Methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally MARK the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]

SETD1A Products (1)

mRNA Protein Name
NM_014712.3 NP_055527.1 histone-lysine N-methyltransferase SETD1A

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables RNA binding IDA
IDA: Inferred from direct assay
38003223 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
27141965 GOA
enables beta-catenin binding IPI
IPI: Inferred from physical interaction
22723415 GOA
enables histone H3K4 methyltransferase activity IDA
IDA: Inferred from direct assay
20862685 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12670868 GOA
Biological Process GO Annotation Evidence References Source
involved in brain development IMP
IMP: Inferred from mutant phenotype
31197650 GOA
involved in regulation of chromatin organization IDA
IDA: Inferred from direct assay
27141965 GOA
involved in regulation of hematopoietic stem cell differentiation IDA
IDA: Inferred from direct assay
27141965 GOA
Cellular Component GO Annotation Evidence References Source
part of Set1C/COMPASS complex IDA
IDA: Inferred from direct assay
17998332 GOA
part of Set1C/COMPASS complex IPI
IPI: Inferred from physical interaction
23508102 GOA
located in chromatin IDA
IDA: Inferred from direct assay
27141965 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
38003223 GOA
part of histone methyltransferase complex IDA
IDA: Inferred from direct assay
17355966 GOA
located in nuclear speck IDA
IDA: Inferred from direct assay
38003223 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17500065 GOA
located in nucleus IMP
IMP: Inferred from mutant phenotype
22723415 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SETD1A Protein Structure

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (101 - 165)

N-SET

N-SET: COMPASS (Complex proteins associated with Set1p) component N (1418 - 1558)

SET

SET: SET domain (1580 - 1684)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1707 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase SETD1A

  • SET domain-containing protein 1A

SETD1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SETD1A O15047 RBBP5 Homo sapiens Q15291
Anti Tag CoIP
23870121
Intra
SETD1A O15047 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
23870121
Cross: Cross-species interaction Intra: Intraspecies interaction

SETD1A Antibodies

Cat. No. Product Name Application Reactivity
HY-P87161 hSET1/SET1 Antibody (YA6854) WB, FC Human

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies

  • NEDSID
Epilepsy, Early-Onset, With Or Without Developmental Delay

  • EPEDD
Schizophrenia

  • SCZD

  • Schizophrenia With Or Without An Affective Disorder

  • Schizophrenia 12

  • Schizophrenia, Susceptibility To

  • Schizophrenia-1

  • Dementia Praecox

  • Schizophrenia 1
Non-Specific Syndromic Intellectual Disability

  • Complex Neurodevelopmental Disorder
Childhood Central Nervous System Mature Teratoma
Central Nervous System Mature Teratoma

  • Mature Teratoma Of The Cns
Kleefstra Syndrome 2

  • KLEFS2

  • Kleefstra Syndrome, Type 2
Kabuki Syndrome 1

  • Kabuki Syndrome

  • Niikawa-Kuroki Syndrome

  • Kabuki Make-Up Syndrome

  • Kms

  • KABUK1

  • Kabuki Make Up Syndrome

  • Nks

  • Kabuki Makeup Syndrome

  • Kabuki Syndrome, Type 1
Malt Worker'S Lung

  • Alveolitis Due To Aspergillus Clavatus

  • Malt Worker Lung

  • Malt Workers' Lung

  • Malt-Workers' Lung

  • Malt Fever

  • Malt House Workers' Cough

  • Malt-Workers' Alveolitis

  • Malt-Workers' Lung Disease

  • Alveolitis Due To Aspergillus Fumigatus

  • Extrinsic Allergic Alveolitis Due To Aspergillus Spp
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Myopathy, Centronuclear, 1

  • Autosomal Dominant Centronuclear Myopathy

  • CNM1

  • Centronuclear Myopathy 1

  • Ad-Cnm

  • Myopathy, Centronuclear, Autosomal Dominant

  • Myotubular Myopathy, Autosomal Dominant

  • Centronuclear Myopathy, Autosomal, Modifier Of

  • Autosomal Dominant Myotubular Myopathy

  • Dnm2-Related Centronuclear Myopathy

  • Centronuclear Myopathy Autosomal Dominant

  • Myopathies, Structural, Congenital

  • Myopathy, Centronuclear, Type 1
Kleefstra Syndrome

  • 9q34.3 Microdeletion Syndrome

  • 9q Subtelomeric Deletion Syndrome

  • 9q- Syndrome

  • Chromosome 9q Deletion Syndrome

  • 9q34.3 Deletion Syndrome

  • 9qstds

  • Chromosome 9q34.3 Deletion Syndrome

  • Chromosome 9, Trisomy 9q
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS12740 SETD1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19526 Setd1a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26021 Setd1a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus SETD1A VGNC VGNC:34492
Mus musculus SETD1A MGD MGI:2446244
Felis catus SETD1A VGNC VGNC:65039
Canis familiaris SETD1A VGNC VGNC:46052
Rattus norvegicus SETD1A RGD RGD:1311624
Others SETD1A NCBI