SPEN - spen family transcriptional repressor Gene

Also Known as MINT; SHARP; RATARS; RBM15C; HIAA0929

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23013

About SPEN

Cytogenetic location: 1p36.21-p36.13 Genomic coordinates (GRCh38): 1:15,847,707-15,940,456 (from NCBI)

This gene has 7 transcripts (splice variants), 290 orthologues, 7 paralogues and is associated with 131 phenotypes. Ubiquitous expression in ovary (RPKM 13.5), bone marrow (RPKM 9.9) and 25 other tissues.

Summary

This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with Other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to Other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]

SPEN Products (1)

mRNA	Protein	Name
NM_015001.3	NP_055816.2	msx2-interacting protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16287852	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16129689	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	16287852	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16129689	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16287852	GOA
involved in positive regulation of neurogenesis	IMP IMP: Inferred from mutant phenotype	16287852	GOA
involved in random inactivation of X chromosome	IDA IDA: Inferred from direct assay	25843628	GOA
involved in regulatory ncRNA-mediated heterochromatin formation	IMP IMP: Inferred from mutant phenotype	25843628	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of transcription repressor complex	IDA IDA: Inferred from direct assay	16287852	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

SPEN Protein Structure

RRM_1

RRM_5

SPOC

0
600
1200
1800
2400
3000
3664 a.a.

Protein Preferred Names	Protein Names
msx2-interacting protein	Msx2 interacting nuclear target (MINT) homolog

SPEN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	SPEN	Q96T58	NCK1	Homo sapiens	P16333	Peptide Array	17474147
Intra	SPEN	Q96T58	RBPJ	Homo sapiens	Q06330	Pull Down	21102556
Intra	SPEN	Q96T58	NCOR2	Homo sapiens	Q9Y618	SPR	24268649
Intra	SPEN	Q96T58	NCOR2	Homo sapiens	Q9Y618	ITC	24268649
Intra	SPEN	Q96T58	NCOR2	Homo sapiens	Q9Y618	NMR	24268649
Intra	SPEN	Q96T58	CRK	Homo sapiens	P46108	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Radio-Tartaglia Syndrome	RATARS
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome Deletion 1p36 Monosomy 1p36 Subtelomeric 1p36 Deletion Monosomy 1p36 Syndrome Distal Monosomy 1p36 Del(1)(P36) Deletion 1pter Monosomy 1pter
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Mullegama-Klein-Martinez Syndrome	MKMS Nedxcf Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities
Paranasal Sinus Lymphoma	Lymphoma Of Accessory Sinus Lymphoma Of Paranasal Sinus
Wolfram Syndrome 2	WFS2
Ezb Diffuse Large B-Cell Lymphoma	Ezb Dlbcl Doid:0081065
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	MCC2D Mcc2 Deficiency 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Ii Methylcrotonylglycinuria, Type Ii 3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Type Ii Mcgii Methylcrotonylglycinuria Type Ii
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
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

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 (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-152038	SPEN-IN-1	Inhibitor	97.25%	Unkown
HY-RS13660	SPEN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11735	RBM15 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20339	Spen Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26847	Spen Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SPEN	VGNC	VGNC:35204
Felis catus	SPEN	VGNC	VGNC:82337
Mus musculus	SPEN	MGD	MGI:1891706
Macaca mulatta	SPEN	VGNC	VGNC:77940
Rattus norvegicus	SPEN	RGD	RGD:1589867
Others	SPEN	NCBI