TAX1BP1

protein-coding

Tax1 binding protein 1

Gene summary

This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

MANE transcript

NM_006024.7

Inheritance

—

ClinVar variants

U:103B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.44

Max pathogenic AF

—

Genomic locus

chr7:27,739,331-27,844,564

External References & Databases

Ensembl (ENSG00000106052)

Transcript & Mutation Effects

hg38 • Region Span ~105.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TAX1BP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006024.7. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		2 clinvar	3
missense			100 clinvar	2 clinvar		102
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	103	2	2	107

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 118 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006024.7	RefSeq	NP_006015.4	16	MANE Select
ENST00000396319.7	Ensembl	ENSP00000379612.2	16	MANE Select
NM_001079864.3	RefSeq	NP_001073333.1	16	Standard
NM_001206901.1	RefSeq	NP_001193830.1	16	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Mitophagy - animal - Homo sapiens (human)
Signal Transduction
DDX58/IFIH1-mediated induction of interferon-alpha/beta
Innate Immune System
Immune System

Biological Process

apoptotic process
regulation of tumor necrosis factor-mediated signaling pathway
negative regulation of NF-kappaB transcription factor activity
negative regulation of type I interferon production
negative regulation of apoptotic process

Molecular Function

protein binding
kinase binding
metal ion binding

Cellular Component

cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000396319
Coding exons: 16
Length: 105234
Individuals with no LoFs: 125678
Homozygous LoFs: 0
Heterozygous LoFs: 70
Defined: 125748
p: 0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.26	329	400	0.823	0.0000195	5270
Missense (PolyPhen)		88	130.39	0.6749		1804
Synonymous	-0.925	151	137	1.10	0.00000681	1368
Loss of Function	3.36	19	42.7	0.445	0.00000211	549

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00031	rare
Latino/Admixed American	0.00057	0.00043	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00097	0.00097	rare
European (Non-Finnish)	0.00018	0.00018	rare
South Asian	0.00021	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degraded by caspase-3-like family proteins upon TNF-induced apoptosis. May also play a role in the pro-inflammatory cytokine IL-1 signaling cascade. {ECO:0000269|PubMed:10435631, ECO:0000269|PubMed:10920205}.;

Recessive Scores

pRec: 0.154

Intolerance Scores

LoFtool: 0.925
RVIS EVS: -0.16
RVIS percentile EVS: 42.16

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.270

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium