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

Also Known as KMT2G; Set1B; IDDSELD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23067

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	References	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	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 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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS21194	Setd1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12741	SETD1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27710	Setd1b Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	SETD1B	NCBI