TASL TLR adaptor interacting with endolysosomal SLC15A4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TASLprovided by HGNC
Official Full Name: TLR adaptor interacting with endolysosomal SLC15A4provided by HGNC
Primary source: HGNC:HGNC:25667
See related: Ensembl:ENSG00000120280 MIM:301049; AllianceGenome:HGNC:25667
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CXorf21
Summary: Involved in positive regulation of toll-like receptor 7 signaling pathway; positive regulation of toll-like receptor 8 signaling pathway; and regulation of lysosomal lumen pH. Located in endolysosome membrane and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in appendix (RPKM 6.3), bone marrow (RPKM 6.2) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp21.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (30558809..30577766, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (30150830..30169806, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (30576926..30595883, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TASL mediates keratinocyte differentiation by regulating intracellular calcium levels and lysosomal function.
Title: TASL mediates keratinocyte differentiation by regulating intracellular calcium levels and lysosomal function.
Characterization of cxorf21 Provides Molecular Insight Into Female-Bias Immune Response in SLE Pathogenesis.
Title: Characterization of cxorf21 Provides Molecular Insight Into Female-Bias Immune Response in SLE Pathogenesis.
identification of TASL as the component that links endolysosomal TLRs to the IRF5 transcription factor via SLC15A4 provides a mechanistic explanation for the involvement of these proteins in systemic lupus erythematosus
Title: TASL is the SLC15A4-associated adaptor for IRF5 activation by TLR7-9.
Through combined genetic, in silico, in vitro, and ex vivo approaches, study defines CXorf21, a gene of hitherto unknown function, which escapes X-chromosome inactivation, as a candidate underlying the Xp21.2 systemic lupus erythematosus association and demonstrates that CXorf21 is an IFN-response gene and that the sexual dimorphism in expression is magnified by immunological challenge.
Title: Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS985 (e-PCR), detects polymorphism
- UniSTS:81701

STS-T83845 (e-PCR)
- UniSTS:44328

D8S2279 (e-PCR)
- UniSTS:473907

DXS985 (e-PCR), detects polymorphism
- UniSTS:42045

RH120190 (e-PCR)
- UniSTS:133182

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of toll-like receptor 7 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of toll-like receptor 8 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lysosomal lumen pH	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of lysosomal lumen pH	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of toll-like receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in endolysosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: TLR adapter interacting with SLC15A4 on the lysosome

Names: 5430427O19Rik; TLR adaptor interacting with SLC15A4 on the lysosome; protein CXorf21; uncharacterized protein CXorf21

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.