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

Homo sapiens

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

Gene ID: 9739 | Gene type: protein coding

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

SETD1A Protein Structure

RRM_1

N-SET

SET

0
300
600
900
1200
1500
1707 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase SETD1A

SET domain-containing protein 1A

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12740	SETD1A Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.