SETD1B - SET domain containing 1B, histone lysine methyltransferase Gene

Homo sapiens

Also known as KMT2G; Set1B; IDDSELD

Gene ID: 23067 | Gene type: protein coding

About SETD1B

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,790,155-121,832,656 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues, 19 paralogues and is associated with 83 phenotypes. Ubiquitous expression in endometrium (RPKM 7.9), spleen (RPKM 6.1) and 25 other tissues.

Summary

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]

SETD1B Products(1)

mRNA	Protein	Name
NM_001353345.2	NP_001340274.1	histone-lysine N-methyltransferase SETD1B

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to histone H3K4 methyltransferase activity	IDA IDA: Inferred from direct assay	17355966	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17998332	GOA

Cellular Component GO Annotation	Evidence	Reference	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 cytoplasm	IDA IDA: Inferred from direct assay	38003223	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	17355966	GOA
located in nucleus	IDA IDA: Inferred from direct assay	38003223	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

SETD1B Protein Structure

RRM_1

N-SET

SET

0
400
800
1200
1600
1966 a.a.

Protein Preferred Names

Protein Names

histone-lysine N-methyltransferase SETD1B

SET domain-containing protein 1B

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Seizures And Language Delay

IDDSELD

Autosomal Dominant Non-Syndromic Intellectual Disability

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

Syndromic X-Linked Intellectual Disability Nascimento Type

Mental Retardation, X-Linked Syndromic, Nascimento-Type

X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome

Non-Syndromic X-Linked Intellectual Disability 93

Mrx93

X-Linked Mental Retardation With Macrocephaly

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

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome	SBBYSS
Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Yss	Sbbys Variant Of Ohdo Syndrome
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type	Young Simpson Syndrome
Sbbyss Syndrome	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type	Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type
Bmrs Sbbys	Ohdo Syndrome, Say-Barber-Biesecker Variant
Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome	Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome
Say-Barber-Biesecker Variant Of Ohdo Syndrome

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Helsmoortel-Van Der Aa Syndrome

HVDAS	Mrd28
Adnp Syndrome	Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28	Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder
Mental Retardation, Autosomal Dominant 28, Formerly	Mrd28, Formerly
Autosomal Dominant Mental Retardation 28	Adnp-Related Intellectual Disability And Autism Spectrum Disorder
Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

Ichthyosis, Congenital, Autosomal Recessive 3

Autosomal Recessive Congenital Ichthyosis 3	ARCI3
Lamellar Ichthyosis 5	Collodion Baby, Self-Healing
Ichthyosis, Lamellar, 5, Formerly	Li5, Formerly
Li5	Self-Healing Collodion Baby
Ichthyosis, Congenital, Autosomal Recessive, Type 3

Sotos Syndrome 1

Sotos1	Sotos Syndrome, Type 1
Sotos' Syndrome

Syndromic X-Linked Intellectual Disability Snyder Type

Snyder-Robinson Syndrome	Mental Retardation, X-Linked, Snyder-Robinson Type
Spermine Synthase Deficiency	Srs
Snyder-Robinson Mental Retardation Syndrome	X-Linked Intellectual Disability Snyder-Robinson Type
Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type	Snyder-Robinson X-Linked Mental Retardation Syndrome

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

Ohdo Syndrome

Young Simpson Syndrome	Ohdo Blepharophimosis Syndrome
Blepharophimosis Syndrome Ohdo Type	Blepharophimosis Intellectual Disability Syndromes
Bmrs	Blepharophimosis-Intellectual Disability Syndrome
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth	Sbbys Syndrome
Say Barber Biesecker Young-Simpson Syndrome	Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Bmrs, Ohdo Type	Blepharophimosis Syndrome, Ohdo Type
Ohdo-Madokoro-Sonoda Syndrome	Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis - Intellectual Disability Syndrome

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

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-RS12741	SETD1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SETD1B	VGNC	VGNC:65040
Macaca mulatta	SETD1B	VGNC	VGNC:100104
Canis familiaris	SETD1B	VGNC	VGNC:46053
Bos taurus	SETD1B	VGNC	VGNC:50140
Rattus norvegicus	SETD1B	RGD	RGD:2323325
Mus musculus	SETD1B	MGD	MGI:2652820

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