TAX1BP1

gene
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Also known as TXBP151CALCOCO3

Summary

TAX1BP1 (Tax1 binding protein 1, HGNC:11575) is a protein-coding gene on chromosome 7p15.2, encoding Tax1-binding protein 1 (Q86VP1). Ubiquitin-binding adapter that participates in inflammatory, antiviral and innate immune processes as well as selective autophagy regulation.

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.

Source: NCBI Gene 8887 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 118 total
  • MANE Select transcript: NM_006024

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:11575
Approved symbolTAX1BP1
NameTax1 binding protein 1
Location7p15.2
Locus typegene with protein product
StatusApproved
AliasesTXBP151, CALCOCO3
Ensembl geneENSG00000106052
Ensembl biotypeprotein_coding
OMIM605326
Entrez8887

Gene structure

Transcript identifiers

Ensembl transcripts: 48 — 44 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000265393, ENST00000396319, ENST00000409980, ENST00000416801, ENST00000418691, ENST00000422800, ENST00000433216, ENST00000457186, ENST00000460059, ENST00000488564, ENST00000490455, ENST00000494033, ENST00000543117, ENST00000871702, ENST00000871703, ENST00000871704, ENST00000871705, ENST00000871706, ENST00000871707, ENST00000871708, ENST00000871709, ENST00000871710, ENST00000871711, ENST00000871712, ENST00000871713, ENST00000871714, ENST00000871715, ENST00000871716, ENST00000871717, ENST00000916538, ENST00000916539, ENST00000916540, ENST00000916541, ENST00000916542, ENST00000945737, ENST00000945738, ENST00000945739, ENST00000945740, ENST00000945741, ENST00000945742, ENST00000945743, ENST00000945744, ENST00000945745, ENST00000945746, ENST00000945747, ENST00000945748, ENST00000945749, ENST00000945750

RefSeq mRNA: 6 — MANE Select: NM_006024 NM_001079864, NM_001206901, NM_001206902, NM_001362794, NM_001362795, NM_006024

CCDS: CCDS43561, CCDS5415, CCDS56471

Canonical transcript exons

ENST00000396319 — 17 exons

ExonStartEnd
ENSE000006745912776583427766021
ENSE000012116912781634927816520
ENSE000018212092774016227740269
ENSE000019370952782862827829767
ENSE000034654712782773827827820
ENSE000034709862779306627793212
ENSE000034854822781689027817038
ENSE000035119622776967627769834
ENSE000035320022775803127758133
ENSE000035352592779200627792230
ENSE000035536082779432327794446
ENSE000035593502779611627796219
ENSE000035794842779996527800090
ENSE000035938802778741827787603
ENSE000036797842778539927785489
ENSE000036847172778516327785311
ENSE000036920032774851827748686

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 99.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.1144 / max 2569.2970, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
7782660.28371817
778270.9992536
778330.8315320

Top tissues by expression

301 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
secondary oocyteCL:000065599.75gold quality
oocyteCL:000002399.74gold quality
bronchial epithelial cellCL:000232899.43gold quality
pigmented layer of retinaUBERON:000178299.22gold quality
epithelium of bronchusUBERON:000203199.22gold quality
retinaUBERON:000096699.19gold quality
bronchusUBERON:000218599.14gold quality
amniotic fluidUBERON:000017398.82gold quality
epithelium of nasopharynxUBERON:000195198.70gold quality
oral cavityUBERON:000016798.69gold quality
nasopharynxUBERON:000172898.68gold quality
choroid plexus epitheliumUBERON:000391198.64gold quality
mucosa of paranasal sinusUBERON:000503098.62gold quality
nasal cavity epitheliumUBERON:000538498.53gold quality
heart right ventricleUBERON:000208098.46gold quality
tongue squamous epitheliumUBERON:000691998.43gold quality
calcaneal tendonUBERON:000370198.40gold quality
caput epididymisUBERON:000435898.40gold quality
cervix squamous epitheliumUBERON:000692298.38gold quality
adrenal tissueUBERON:001830398.31gold quality
middle temporal gyrusUBERON:000277198.29gold quality
corpus epididymisUBERON:000435998.23gold quality
right adrenal glandUBERON:000123398.22gold quality
postcentral gyrusUBERON:000258198.21gold quality
esophagus squamous epitheliumUBERON:000692098.19gold quality
right adrenal gland cortexUBERON:003582798.19gold quality
nasal cavity mucosaUBERON:000182698.18gold quality
eyeUBERON:000097098.08gold quality
type B pancreatic cellCL:000016998.05gold quality
renal medullaUBERON:000036298.05gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-MTAB-6701yes37.33
E-MTAB-7316yes36.54
E-MTAB-6379no5440.62
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting TAX1BP1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-3163100.0077.238605
HSA-MIR-5692A100.0074.406850
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-428299.9975.366408
HSA-MIR-569699.9872.364487
HSA-MIR-60799.9773.625593
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-205-3P99.9269.923165
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-449599.8272.083080
HSA-MIR-4639-5P99.8167.371028
HSA-MIR-556-3P99.7468.751203
HSA-MIR-148A-3P99.7473.771700
HSA-MIR-148B-3P99.7473.751700
HSA-MIR-152-3P99.7473.751703
HSA-MIR-10393-3P99.7266.56961
HSA-MIR-6801-5P99.7266.50981
HSA-MIR-472999.6972.184233
HSA-MIR-4756-3P99.6266.301319
HSA-MIR-6758-3P99.5767.551078
HSA-MIR-54399.5269.032595
HSA-MIR-7159-3P99.5170.171920
HSA-MIR-5584-5P99.4968.222814
HSA-MIR-132499.4666.571302

Literature-anchored findings (GeneRIF, showing 20)

  • myosin VI-T6BP interactions may link membrane trafficking pathways with cell adhesion and cytokine-dependent cell signalling. (PMID:17635994)
  • results demonstrate TBK1-IKKi to be novel substrates for A20 and further identify a novel mechanism whereby A20 and TAX1BP1 restrict antiviral signaling by disrupting a TRAF3-TBK1-IKKi signaling complex (PMID:20304918)
  • There is evidence of the association between the TAX1BP1 polymorphism and oral cavity cancer but there are no differences in the distribution of the polymorphism among patients with head and neck cancer and individuals without history of neoplasm. (PMID:20549079)
  • In a link with T cell leukemia virus-1-associated myelopathy/tropical spastic paraparesis, an alphabeta T cell receptor recognizes a self peptide from neuronal protein HuD in context of histocompatibility antigen HLA-A2. (PMID:21282516)
  • ABIN1 requires its ubiquitin binding domain and cooperates with TAX1BP1 and A20 to restrict antiviral signaling. (PMID:21885437)
  • Allele frequencies of three Alu insertions that are located in MEF2C (two of them) and TAX1BP1 genes significantly differ between cohorts of healthy donors and ALL(acute lymphoblastic leukemia) patients. (PMID:22997707)
  • Autophagy of Tax1bp1/Ndp52 promotes non-canonical NF-kappaB signalling. (PMID:23209807)
  • RNF11 functions together with TAX1BP1 to restrict antiviral signaling and IFN-beta production. (PMID:23308279)
  • A protein construct corresponding to the SKICH domain plus the linker region was expressed, purified and crystallized for TAX1BP1. (PMID:24817723)
  • The induction of antibodies to an AQP4 epitope in mice immunized with the TAX1BP1-derived peptide suggests that a latent HTLV-1 infection could lead to TAX1BP1 antigen presentation and the production of anti-AQP4 antibodies in human neuromyelitis optica. (PMID:26287441)
  • we demonstrate that myosin VI and TAX1BP1 are recruited to ubiquitylated Salmonella and play a key role in xenophagy (PMID:26451915)
  • Results show that TAX1BP1 translocates to mitochondria in response to RNA virus infection and inducibly interacts with the MAVS adaptor protein and indicate that TAX1BP1 functions as an adaptor molecule for Itch to target MAVS during RNA virus infection and thus restrict virus-induced apoptosis. (PMID:27736772)
  • TAX1BP1 downregulation by EBV-miR-BART15-3p enhances chemosensitivity of gastric cancer cells to 5-fluorouracil. (PMID:27757686)
  • evaluated the currently known TBK1-mediated phosphorylation sites in the SKICH domains of NDP52 and TAX1BP1 on the basis of their interactions with NAP1 (PMID:30459273)
  • Loss of TAX1BP1-Directed Autophagy Results in Protein Aggregate Accumulation in the Brain. (PMID:33207181)
  • Galectin-8 Senses Phagosomal Damage and Recruits Selective Autophagy Adapter TAX1BP1 To Control Mycobacterium tuberculosis Infection in Macrophages. (PMID:34225486)
  • FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates. (PMID:34226595)
  • Reconstitution defines the roles of p62, NBR1 and TAX1BP1 in ubiquitin condensate formation and autophagy initiation. (PMID:34471133)
  • TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1. (PMID:36898370)
  • Decreased TAX1BP1 participates in systemic lupus erythematosus by regulating monocyte/macrophage function. (PMID:37465957)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriotax1bp1bENSDARG00000056856
danio_reriotax1bp1aENSDARG00000098288
mus_musculusTax1bp1ENSMUSG00000004535
rattus_norvegicusTax1bp1ENSRNOG00000008393

Paralogs (2): CALCOCO1 (ENSG00000012822), CALCOCO2 (ENSG00000136436)

Protein

Protein identifiers

Tax1-binding protein 1Q86VP1 (reviewed: Q86VP1)

Alternative names: TRAF6-binding protein

All UniProt accessions (7): Q86VP1, B8ZZD4, C9J7J4, C9JBZ7, F8WBU9, H7C3L5, V9GZ06

UniProt curated annotations — full annotation on UniProt →

Function. Ubiquitin-binding adapter that participates in inflammatory, antiviral and innate immune processes as well as selective autophagy regulation. Plays a key role in the negative regulation of NF-kappa-B and IRF3 signalings by acting as an adapter for the ubiquitin-editing enzyme A20/TNFAIP3 to bind and inactivate its substrates. Disrupts the interactions between the E3 ubiquitin ligase TRAF3 and TBK1/IKBKE to attenuate ‘Lys63’-linked polyubiquitination of TBK1 and thereby IFN-beta production. Also recruits A20/TNFAIP3 to ubiquitinated signaling proteins TRAF6 and RIPK1, leading to their deubiquitination and disruption of IL-1 and TNF-induced NF-kappa-B signaling pathways. Inhibits virus-induced apoptosis by inducing the ‘Lys-48’-linked polyubiquitination and degradation of MAVS via recruitment of the E3 ligase ITCH, thereby attenuating MAVS-mediated apoptosis signaling. As a macroautophagy/autophagy receptor, facilitates the xenophagic clearance of pathogenic bacteria such as Salmonella typhimurium and Mycobacterium tuberculosis. Upon NBR1 recruitment to the SQSTM1-ubiquitin condensates, acts as the major recruiter of RB1CC1 to these ubiquitin condensates to promote their autophagic degradation. Mediates the autophagic degradation of other substrates including TICAM1.

Subunit / interactions. Homooligomer. Interacts with TNFAIP3. Interacts with STARD13. Interacts with MYO6. Interacts with TOM1; the interaction is indirect and is mediated by MYO6, which acts as a bridge between TOM1 and TAX1BP1. Interacts with MAVS; this interaction induces MAVS polyubiquitination. Interacts with TNIP1. Interacts with TRAF6; this interaction mediates deubiquitination of TRAF6 and inhibition of NF-kappa-B activation. Interacts with RIPK1; this interaction negatively regulates RIPK1 ubiquitination. Interacts with NBR1. Interacts with TBK1. Interacts with RB1CC1. Interacts with SQSTM1. Interacts with AZI2. Interacts with TICAM1 and TRIM32; these interactions target TICAM1 to TAX1BP1-mediated selective autophagic degradation. (Microbial infection) Interacts with the HTLV-1 protein Tax. (Microbial infection) Interacts with Respiratory syncytial virus protein N; this interaction may promote viral growth by inhibiting the innate immune response. (Microbial infection) Interacts with Lassa virus protein Z. (Microbial infection) Interacts with Mopeia virus protein Z.

Subcellular location. Cytoplasm. Mitochondrion. Preautophagosomal structure. Cytoplasmic vesicle. Autophagosome.

Tissue specificity. Expressed in all tissues tested.

Post-translational modifications. Phosphorylated in the C-terminal region by CHUK/IKKA leading to NF-kappa-B signaling down-regulation.

Domain organisation. The C-terminal UBZ-type zinc fingers function as ubiquitin-binding domains.

Isoforms (4)

UniProt IDNamesCanonical?
Q86VP1-11yes
Q86VP1-22, TXBP151-L
Q86VP1-33, TXBP151-S
Q86VP1-44

RefSeq proteins (6): NP_001073333, NP_001193830, NP_001193831, NP_001349723, NP_001349724, NP_006015* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR012852CALCOCO1-likeDomain
IPR041611SKICHDomain
IPR041641CALCOCO1/2_Zn_UBZ1Domain
IPR051002UBA_autophagy_assoc_proteinFamily

Pfam: PF07888, PF17751, PF18112

UniProt features (58 total): strand 12, binding site 8, mutagenesis site 8, modified residue 6, helix 5, region of interest 4, splice variant 3, sequence variant 3, zinc finger region 2, sequence conflict 2, turn 2, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

10 structures.

PDBMethodResolution (Å)
5YT6X-RAY DIFFRACTION1.5
8W6AX-RAY DIFFRACTION1.53
4NLHX-RAY DIFFRACTION1.9
4Z4MX-RAY DIFFRACTION2.15
5Z7GX-RAY DIFFRACTION2.3
8W6BX-RAY DIFFRACTION2.39
4BMJX-RAY DIFFRACTION2.75
4Z4KX-RAY DIFFRACTION2.8
2M7QSOLUTION NMR
5AASSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86VP1-F176.790.48

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (8): 733; 749; 753; 757; 760; 776; 780; 730

Post-translational modifications (6): 124, 138, 225, 593, 609, 666

Mutagenesis-validated functional residues (8):

PositionPhenotype
114complete loss of tbk1 and rb1cc1 binding.
143complete loss of map1lc3b binding.
771normal affinity for ubiquitin.
774reduced affinity for ubiquitin.
775normal affinity for ubiquitin.
777reduced affinity for ubiquitin.
778reduced affinity for ubiquitin.
781reduced affinity for ubiquitin.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

IDPathway
R-HSA-5357905Regulation of TNFR1 signaling
R-HSA-936440Negative regulators of DDX58/IFIH1 signaling
R-HSA-162582Signal Transduction
R-HSA-168249Innate Immune System
R-HSA-168256Immune System
R-HSA-168928DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-73887Death Receptor Signaling
R-HSA-75893TNF signaling

MSigDB gene sets: 282 (showing top): REACTOME_DDX58_IFIH1_MEDIATED_INDUCTION_OF_INTERFERON_ALPHA_BETA, FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_TOLL_LIKE_RECEPTOR_4_SIGNALING_PATHWAY, HSIAO_HOUSEKEEPING_GENES, GOBP_NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_MEDIATED_SIGNALING_PATHWAY, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, MORF_TERF1, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, MILI_PSEUDOPODIA_HAPTOTAXIS_UP

GO Biological Process (14): autophagy (GO:0006914), apoptotic process (GO:0006915), negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804), negative regulation of toll-like receptor 4 signaling pathway (GO:0034144), negative regulation of cytoplasmic pattern recognition receptor signaling pathway (GO:0039532), negative regulation of apoptotic process (GO:0043066), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), innate immune response (GO:0045087), protein localization to phagocytic vesicle (GO:1905161), negative regulation of interleukin-1-mediated signaling pathway (GO:2000660), immune system process (GO:0002376), cytoplasmic pattern recognition receptor signaling pathway (GO:0002753), toll-like receptor 4 signaling pathway (GO:0034142), protein K48-linked ubiquitination (GO:0070936)

GO Molecular Function (6): zinc ion binding (GO:0008270), kinase binding (GO:0019900), protein-macromolecule adaptor activity (GO:0030674), signaling adaptor activity (GO:0035591), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): phagophore assembly site (GO:0000407), cytoplasm (GO:0005737), mitochondrion (GO:0005739), autophagosome (GO:0005776), cytosol (GO:0005829), cytoplasmic vesicle (GO:0031410), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-6 pathways:

CategoryPathways
TNF signaling1
DDX58/IFIH1-mediated induction of interferon-alpha/beta1
Immune System1
Innate Immune System1
Signal Transduction1
Death Receptor Signaling1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cytoplasm4
cellular anatomical structure3
negative regulation of cytokine-mediated signaling pathway2
negative regulation of immune system process2
negative regulation of intracellular signal transduction2
catabolic process1
transmembrane transport1
process utilizing autophagic mechanism1
programmed cell death1
apoptotic signaling pathway1
execution phase of apoptosis1
regulation of tumor necrosis factor-mediated signaling pathway1
tumor necrosis factor-mediated signaling pathway1
negative regulation of signal transduction1
toll-like receptor 4 signaling pathway1
regulation of toll-like receptor 4 signaling pathway1
cytoplasmic pattern recognition receptor signaling pathway1
regulation of cytoplasmic pattern recognition receptor signaling pathway1
apoptotic process1
regulation of apoptotic process1
negative regulation of programmed cell death1
canonical NF-kappaB signal transduction1
regulation of canonical NF-kappaB signal transduction1
immune response1
defense response to symbiont1
protein localization to organelle1
interleukin-1-mediated signaling pathway1
regulation of interleukin-1-mediated signaling pathway1
biological_process1
positive regulation of cytokine production1
pattern recognition receptor signaling pathway1
intracellular receptor signaling pathway1
cell surface toll-like receptor signaling pathway1
protein polyubiquitination1
transition metal ion binding1
enzyme binding1
protein binding1
molecular adaptor activity1
protein-macromolecule adaptor activity1
binding1

Protein interactions and networks

STRING

2212 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TAX1BP1RNF11Q9Y3C5994
TAX1BP1CNTN2P78432988
TAX1BP1UBE2NP61088980
TAX1BP1TRAF6Q9Y4K3952
TAX1BP1OPTNQ96CV9942
TAX1BP1ITCHQ96J02909
TAX1BP1A0A087WY85A0A087WY85907
TAX1BP1SQSTM1Q13501895
TAX1BP1GABARAPO95166850
TAX1BP1NBR1Q14596824
TAX1BP1TNFAIP3P21580810
TAX1BP1CD300CQ08708802
TAX1BP1GABARAPL2P60520765
TAX1BP1F5GZY7F5GZY7763
TAX1BP1BIRC2Q13490734

IntAct

376 interactions, top by confidence:

ABTypeScore
TAX1BP1COG7psi-mi:“MI:0915”(physical association)0.850
COG7TAX1BP1psi-mi:“MI:0915”(physical association)0.850
TNFAIP3TAX1BP1psi-mi:“MI:0915”(physical association)0.810
TAX1BP1TNIP1psi-mi:“MI:0915”(physical association)0.780
TAX1BP1TNIP3psi-mi:“MI:0915”(physical association)0.780
TNIP1TAX1BP1psi-mi:“MI:0915”(physical association)0.780
TNIP3TAX1BP1psi-mi:“MI:0915”(physical association)0.780
TAX1BP1LGALS8psi-mi:“MI:0915”(physical association)0.740
LGALS8TAX1BP1psi-mi:“MI:0915”(physical association)0.740
TAX1BP1DSTNpsi-mi:“MI:0915”(physical association)0.720
DAZAP2TAX1BP1psi-mi:“MI:0915”(physical association)0.720
TSG101TAX1BP1psi-mi:“MI:0915”(physical association)0.720
TAX1BP1RAD18psi-mi:“MI:0915”(physical association)0.720
TAX1BP1NMRK1psi-mi:“MI:0915”(physical association)0.720
TAX1BP1MRPL11psi-mi:“MI:0915”(physical association)0.720
DSTNTAX1BP1psi-mi:“MI:0915”(physical association)0.720

BioGRID (501): TAX1BP1 (Two-hybrid), TAX1BP1 (Two-hybrid), TAX1BP1 (Two-hybrid), TAX1BP1 (Two-hybrid), TAX1BP1 (Two-hybrid), TAX1BP1 (Two-hybrid), FAM189A2 (Two-hybrid), DAZAP2 (Two-hybrid), TNIP1 (Two-hybrid), DSTN (Two-hybrid), EMILIN1 (Two-hybrid), RAB18 (Two-hybrid), FAM168A (Two-hybrid), CXXC1 (Two-hybrid), NMRK1 (Two-hybrid)

ESM2 similar proteins: A0PJP4, O18737, O75665, P0C219, P12757, P35689, P97817, Q01850, Q13137, Q14596, Q14BN4, Q17QT2, Q28623, Q2KJE0, Q3B7M3, Q3SYW5, Q3UKC1, Q3URD3, Q3ZBK7, Q4KLN4, Q4KLY0, Q4KMA0, Q4R3X1, Q4R914, Q53GS7, Q5R431, Q5R4U3, Q5R7H1, Q5RAS2, Q5RD40, Q5ZJA3, Q66HA4, Q6DH86, Q6IMY1, Q6NRH3, Q6P132, Q6P3P1, Q6ZUS6, Q76CY8, Q7TPQ3

Diamond homologs: A2A6M5, A2BGD5, O18737, Q13137, Q1LWB0, Q2KJ21, Q2KJE0, Q3UKC1, Q4R914, Q5R4U3, Q5R7H1, Q5RD60, Q66HA4, Q66HR5, Q6DD09, Q6DF48, Q6P132, Q6P3P1, Q86VP1, Q8CGU1, Q9DEX1, Q9P1Z2

SIGNOR signaling

5 interactions.

AEffectBMechanism
TAX1BP1“up-regulates activity”TNFAIP3binding
CHUK“up-regulates activity”TAX1BP1phosphorylation
TNIP1“up-regulates activity”TAX1BP1relocalization
TAX1BP1“down-regulates activity”TRAF3binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
TNFR1-induced NF-kappa-B signaling pathway650.4×3e-07
Ovarian tumor domain proteases748.7×3e-08
Negative regulators of DDX58/IFIH1 signaling540.8×7e-06
NOD1/2 Signaling Pathway539.6×7e-06
Regulation of TP53 Degradation536.6×8e-06
Regulation of TNFR1 signaling633.6×3e-06
Ub-specific processing proteases68.0×4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

118 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance95
Likely benign2
Benign4

Top pathogenic / likely-pathogenic (0)

SpliceAI

3348 predictions. Top by Δscore:

VariantEffectΔscore
7:27740254:G:GTdonor_gain1.0000
7:27740267:TGGG:Tdonor_loss1.0000
7:27740268:GG:Gdonor_gain1.0000
7:27740269:GG:Gdonor_gain1.0000
7:27740269:GGT:Gdonor_loss1.0000
7:27740270:G:GGdonor_gain1.0000
7:27740270:GTA:Gdonor_loss1.0000
7:27740271:T:Adonor_loss1.0000
7:27748513:TTCA:Tacceptor_loss1.0000
7:27748514:TCA:Tacceptor_loss1.0000
7:27748516:A:AGacceptor_gain1.0000
7:27748517:G:GAacceptor_gain1.0000
7:27748517:GA:Gacceptor_gain1.0000
7:27748517:GATTC:Gacceptor_gain1.0000
7:27748683:CAAG:Cdonor_loss1.0000
7:27748684:AAG:Adonor_loss1.0000
7:27748687:G:GCdonor_loss1.0000
7:27748688:T:Adonor_loss1.0000
7:27758020:T:Gacceptor_gain1.0000
7:27758025:CTTTA:Cacceptor_loss1.0000
7:27758026:TTTAG:Tacceptor_loss1.0000
7:27758028:TAGGT:Tacceptor_loss1.0000
7:27758029:A:AGacceptor_gain1.0000
7:27758029:AG:Aacceptor_gain1.0000
7:27758029:AGGTT:Aacceptor_gain1.0000
7:27758030:G:Aacceptor_loss1.0000
7:27758030:G:GAacceptor_gain1.0000
7:27758030:GG:Gacceptor_gain1.0000
7:27758030:GGT:Gacceptor_gain1.0000
7:27758030:GGTT:Gacceptor_gain1.0000

AlphaMissense

5288 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:27748574:T:AV17D1.000
7:27748579:T:CF19L1.000
7:27748580:T:CF19S1.000
7:27748581:T:AF19L1.000
7:27748581:T:GF19L1.000
7:27748669:T:AW49R1.000
7:27748669:T:CW49R1.000
7:27748671:G:CW49C1.000
7:27748671:G:TW49C1.000
7:27748673:T:AV50D1.000
7:27748675:G:CG51R1.000
7:27748676:G:AG51D1.000
7:27748679:T:AI52K1.000
7:27748681:T:CF53L1.000
7:27748683:C:AF53L1.000
7:27748683:C:GF53L1.000
7:27758035:G:AG56E1.000
7:27758037:T:AW57R1.000
7:27758037:T:CW57R1.000
7:27758064:T:CF66L1.000
7:27758065:T:CF66S1.000
7:27758066:T:AF66L1.000
7:27758066:T:GF66L1.000
7:27758070:T:AW68R1.000
7:27758070:T:CW68R1.000
7:27765863:T:CF99L1.000
7:27765865:T:AF99L1.000
7:27765865:T:GF99L1.000
7:27765866:T:GY100D1.000
7:27765873:T:CF102S1.000

dbSNP variants (sampled 300 via entrez): RS1000018181 (7:27792367 A>G), RS1000026536 (7:27750056 G>T), RS1000079904 (7:27741222 C>A), RS1000082591 (7:27770355 G>A), RS1000096251 (7:27747873 T>G), RS1000209182 (7:27777317 T>A), RS1000299035 (7:27755870 A>G), RS1000363739 (7:27750994 C>A,G), RS1000381247 (7:27821907 T>C), RS1000478459 (7:27750720 T>C), RS1000556355 (7:27768551 C>A), RS1000588897 (7:27814829 A>G,T), RS1000602288 (7:27817549 A>G), RS1000604743 (7:27773893 A>G), RS1000617285 (7:27775442 C>A,T)

Disease associations

OMIM: gene MIM:605326 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

StudyTraitp-value
GCST002563_10Hypospadias8.000000e-12
GCST004860_36Alcoholic chronic pancreatitis9.000000e-06
GCST006409_4Allergic rhinitis3.000000e-14
GCST007324_87Adventurousness4.000000e-09
GCST007995_52Asthma (childhood onset)2.000000e-09
GCST009391_404Metabolite levels9.000000e-06
GCST009798_87Asthma9.000000e-13

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0008579risk-taking behaviour
EFO:0010386phosphatidylcholine 38:4 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects cotreatment, decreases methylation, affects expression2
sodium arseniteincreases abundance, increases expression2
Tobacco Smoke Pollutionincreases expression2
Cyclosporineincreases expression2
Cadmium Chlorideincreases abundance, increases expression2
Particulate Matterdecreases expression, increases abundance, affects expression, increases reaction2
FR900359affects phosphorylation1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
tris(1,3-dichloro-2-propyl)phosphateincreases expression1
cobaltous chlorideincreases expression1
1-nitropyreneincreases expression1
di-n-butylphosphoric acidaffects expression1
4-phenylbutyric aciddecreases expression1
CGP 52608affects binding, increases reaction1
chloropicrinincreases expression1
corosolic acidincreases expression1
K 7174increases expression1
oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholineaffects expression, increases reaction1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)increases expression1
NSC 689534affects binding, increases expression1
Resveratrolaffects cotreatment, increases expression1
Sunitinibincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Air Pollutantsdecreases expression, increases abundance1
Arsenicincreases abundance, increases expression1
Vehicle Emissionsaffects expression, increases reaction1
Benzo(a)pyreneincreases methylation1
Cadmiumincreases abundance, increases expression1
Copperaffects binding, increases expression1

Cellosaurus cell lines

10 cell lines: 9 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_B3J2Abcam HEK293T TAX1BP1 KOTransformed cell lineFemale
CVCL_C2VNHeLa S3 penta KOCancer cell lineFemale
CVCL_C2VPHeLa S3 penta KO-ATG13 KOCancer cell lineFemale
CVCL_C2VQHeLa S3 penta KO-ATG14 KOCancer cell lineFemale
CVCL_C2VRHeLa S3 penta KO-TBK1 KOCancer cell lineFemale
CVCL_C2VSHeLa S3 penta KO-ULK1/ULK2 DKOCancer cell lineFemale
CVCL_C2VTHeLa S3 penta KO-TBK1/ULK1/ULK2 TKOCancer cell lineFemale
CVCL_C8QBHeLa S3 penta KO-AZI2/TBKBP1 DKO clone 20Cancer cell lineFemale
CVCL_C9DWHeLa S3 penta KO-ULK1/ULK2 DKO-AZI2/TBKBP1 DKOCancer cell lineFemale
CVCL_D2Q1HeLa S3 penta KO-AZI2/TBKBP1 DKO clone 26Cancer cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.