TONSL - tonsoku like, DNA repair protein Gene

Homo sapiens

Also known as IKBR; SEMDSP; NFKBIL2

Gene ID: 4796 | Gene type: protein coding

About TONSL

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:144,428,775-144,444,440 (from NCBI)

This gene has 2 transcripts (splice variants), 181 orthologues, 4 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 3.5), small intestine (RPKM 2.3) and 24 other tissues.

Summary

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

TONSL Products(1)

mRNA	Protein	Name
NM_013432.5	NP_038460.4	tonsoku-like protein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables histone binding	IDA IDA: Inferred from direct assay	21055983	GOA
enables histone reader activity	IDA IDA: Inferred from direct assay	26527279	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21055983	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in double-strand break repair via homologous recombination	IDA IDA: Inferred from direct assay	27338793	GOA
involved in double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	21055983	GOA
involved in protein localization to chromatin	IDA IDA: Inferred from direct assay	27338793	GOA
involved in replication fork processing	IDA IDA: Inferred from direct assay	27338793	GOA
involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	21055983	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of DNA replication factor A complex	IDA IDA: Inferred from direct assay	21055983	GOA
part of FACT complex	IDA IDA: Inferred from direct assay	21055983	GOA
part of MCM complex	IDA IDA: Inferred from direct assay	21055983	GOA
is active in nuclear replication fork	IDA IDA: Inferred from direct assay	26527279	GOA
located in nuclear replication fork	IDA IDA: Inferred from direct assay	21055983	GOA
is active in site of double-strand break	IDA IDA: Inferred from direct assay	26527279	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

TONSL Protein Structure

TPR_11

Ank_2

Ank

LRR_6

0
300
600
900
1200
1378 a.a.

Protein Preferred Names

Protein Names

tonsoku-like protein

I-kappa-B-related protein

Related Diseases

Diseases

Alias

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Coxa Vara

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1

Nevo Syndrome	Eds Vi
Ehlers-Danlos Syndrome, Type Vi	Eds Via
Ehlers-Danlos Syndrome Type 6	EDSKSCL1
Eds6	Ehlers-Danlos Syndrome Kyphoscoliotic Type 1
Kyphoscoliotic Ehlers-Danlos Syndrome	Cutis Hyperelastica
Ehlers-Danlos Syndrome Type 6a	Ehlers-Danlos Syndrome Oculoscoliotic Type
Kyphoscoliotic Eds	Kyphoscoliotic Eds Due To Lysyl Hydroxylase 1 Deficiency
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Lysyl Hydroxylase-Deficient Eds
Ocular-Scoliotic Eds	Keds
Keds-Plod1	Ehlers-Danlos Syndrome, Kyphoscoliotic Type 1
Ehlers-Danlos Syndrome, Ocular-Scoliotic Type	Ehlers-Danlos Syndrome, Type Via, Formerly
Eds6a, Formerly	Eds 6
Eds, Kyphoscoliotic Type	Eds, Oculoscoliotic Type
Ehlers-Danlos Syndrome, Kyphoscoliosis Type	Ehlers-Danlos Syndrome, Kyphoscoliotic Type
Ehlers-Danlos Syndrome, Oculoscoliotic Type	Eds6a
Ehlers-Danlos Syndrome 6	Ehlers-Danlos Syndrome Kyphoscoliotic Type

Scoliosis

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-RS14889	TONSL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TONSL	VGNC	VGNC:79968
Mus musculus	TONSL	MGD	MGI:1919999
Bos taurus	TONSL	VGNC	VGNC:36220
Canis familiaris	TONSL	VGNC	VGNC:47710
Rattus norvegicus	TONSL	RGD	RGD:1307483
Felis catus	TONSL	VGNC	VGNC:68488

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