TAX1BP3 Tax1 binding protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAX1BP3provided by HGNC
Official Full Name: Tax1 binding protein 3provided by HGNC
Primary source: HGNC:HGNC:30684
See related: Ensembl:ENSG00000213977 MIM:616484; AllianceGenome:HGNC:30684
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TIP1; TIP-1
Summary: This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
Expression: Ubiquitous expression in stomach (RPKM 62.9), endometrium (RPKM 61.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (3662895..3668578, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (3551947..3557633, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (3566189..3571872, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia
Title: Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia.
ARHGEF7, a guanine nucleotide exchange factor for Rho GTPases, as one novel TIP-1-interacting protein in human glioblastoma cells
Title: Tax-interacting protein 1 coordinates the spatiotemporal activation of Rho GTPases and regulates the infiltrative growth of human glioblastoma.
this study reports the identification of two new hGIP-interacting partners, DTX1 and STAU1.
Title: New partner proteins containing novel internal recognition motif for human glutaminase interacting protein (hGIP).
The study provided the first evidence showing that TIP-1 modulates p53 protein stability and is involved in the radioresistance of malignant gliomas.
Title: Expression of TIP-1 confers radioresistance of malignant glioma cells.
The study reports the identification of 18 new glutaminase-interacting protein - binding peptides with novel internal motifs that map to a number of candidate human glutaminase-interacting protein partner proteins.
Title: Specificity and promiscuity in human glutaminase interacting protein recognition: insight from the binding of the internal and C-terminal motif.
this study revealed a novel oncogenic function of TIP-1 suggesting that TIP-1 holds potential as a prognostic biomarker and a therapeutic target in the treatment of human invasive breast cancers.
Title: The PDZ protein TIP-1 facilitates cell migration and pulmonary metastasis of human invasive breast cancer cells in athymic mice.
HPV16 E6, Tip-1 and ARHGEF16 may cooperate to activate Cdc42 and support a potential link between the expression of HPV16 E6 and Cdc42 activation.
Title: The HPV16 E6 binding protein Tip-1 interacts with ARHGEF16, which activates Cdc42.
This is the first study reporting BAI2 as an interaction partner of GIP.
Title: Identification of brain-specific angiogenesis inhibitor 2 as an interaction partner of glutaminase interacting protein.
TIP-1 may act as an important regulator for the endocytic pathway of Kir2.3.
Title: Molecular mechanism of inward rectifier potassium channel 2.3 regulation by tax-interacting protein-1.
the overexpression, efficient refolding, single-step purification, and biophysical characterization of recombinant human TIP-1 with three different C-terminal target protein recognition sequence motifs by CD, fluorescence, and NMR methods
Title: Probing the structure and function of human glutaminase-interacting protein: a possible target for drug design.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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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

A008L05 (e-PCR)
- UniSTS:42768

RH78618 (e-PCR)
- UniSTS:16187

SHGC-36073 (e-PCR)
- UniSTS:8004

SHGC-132568 (e-PCR)
- UniSTS:173951

D15S1258 (e-PCR)
- UniSTS:26100

Readthrough P2RX5-TAX1BP3

Readthrough gene: P2RX5-TAX1BP3, Included gene: P2RX5

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Rho protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein localization to cell surface	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in cytoplasm	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tax1-binding protein 3

Names: Tax interaction protein 1; Tax1 (human T-cell leukemia virus type I) binding protein 3; glutaminase-interacting protein 3; tax-interacting protein 1

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.

Genomic

NG_053154.1 RefSeqGene

Range

5102..10785

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001204698.2 → NP_001191627.1 tax1-binding protein 3 isoform 2

See identical proteins and their annotated locations for NP_001191627.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.

Source sequence(s)

AF277318, BM973411, CB129195

Consensus CDS

CCDS73940.1

UniProtKB/TrEMBL

A0A087X282

Related

ENSP00000484776.1, ENST00000611779.4

Conserved Domains (1) summary

cl00117
Location:13 → 83

PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...
NM_014604.4 → NP_055419.1 tax1-binding protein 3 isoform 1

See identical proteins and their annotated locations for NP_055419.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF028823, AF277318, BM973411

Consensus CDS

CCDS11032.1

UniProtKB/Swiss-Prot

B2RD53, D3DTJ6, O14907, Q7LCQ4

Related

ENSP00000225525.3, ENST00000225525.4

Conserved Domains (1) summary

cd00992
Location:13 → 109

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...