TNIP1 TNFAIP3 interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNIP1provided by HGNC
Official Full Name: TNFAIP3 interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:16903
See related: Ensembl:ENSG00000145901 MIM:607714; AllianceGenome:HGNC:16903
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: VAN; NAF1; ABIN-1; nip40-1
Summary: This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Expression: Ubiquitous expression in fat (RPKM 55.9), spleen (RPKM 36.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (151029943..151087685, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (151566421..151624171, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (150409504..150467246, complement)

Chromosome 5 - NC_000005.10 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
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?

Post-GWAS multiomic functional investigation of the TNIP1 locus in Alzheimer's disease highlights a potential role for GPX3.
Title: Post-GWAS multiomic functional investigation of the TNIP1 locus in Alzheimer's disease highlights a potential role for GPX3.
TNFAIP3-interacting protein 1 polymorphisms and their association with symptomatic human respiratory syncytial virus infection and bronchiolitis in infants younger than one year from South Africa: A case-control study.
Title: TNFAIP3-interacting protein 1 polymorphisms and their association with symptomatic human respiratory syncytial virus infection and bronchiolitis in infants younger than one year from South Africa: A case-control study.
The inflammation repressor TNIP1/ABIN-1 is degraded by autophagy following TBK1 phosphorylation of its LIR.
Title: The inflammation repressor TNIP1/ABIN-1 is degraded by autophagy following TBK1 phosphorylation of its LIR.
TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1.
Title: TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1.
TBK1 phosphorylation activates LIR-dependent degradation of the inflammation repressor TNIP1.
Title: TBK1 phosphorylation activates LIR-dependent degradation of the inflammation repressor TNIP1.
Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
Title: Myelin oligodendrocyte glycoprotein-associated disease is associated with BANK1, RNASET2 and TNIP1 polymorphisms.
ABIN1 Inhibits Inflammation through Necroptosis-Dependent Pathway in Ulcerative Colitis.
Title: ABIN1 Inhibits Inflammation through Necroptosis-Dependent Pathway in Ulcerative Colitis.
Assessment of the association between TNIP1 polymorphism with clinical features and risk of systemic lupus erythematosus.
Title: Assessment of the association between TNIP1 polymorphism with clinical features and risk of systemic lupus erythematosus.
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Title: Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
A20 and ABIN-1 cooperate in balancing CBM complex-triggered NF-kappaB signaling in activated T cells.
Title: A20 and ABIN-1 cooperate in balancing CBM complex-triggered NF-κB signaling in activated T cells.

Submit: New GeneRIF Correction See all GeneRIFs (95)

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

EBI GWAS Catalog

Description
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Risk for myasthenia gravis maps to a (151) Pro&#x000e2;&#x00086;&#x00092;Ala change in TNIP1 and to human leukocyte antigen-B*08. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Nef-associated factor 1 (Naf1) binds to HIV-1 Nef through amino acids 94-412 of Naf1; overexpression of Naf1 in 293T cells increases CD4 expression, and Nef suppresses this activity of Naf1 to downregulate CD4	PubMed
matrix	gag	VAN is efficiently incorporated into HIV-1 virions, presumably as a result of binding to HIV-1 Matrix	PubMed
	gag	The C-terminus (amino acids 468-637) of virion-associated matrix-interacting protein (VAN) binds to HIV-1 Matrix and has been proposed to play a role in the nuclear import of the HIV-1 preintegration complex	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2702 (e-PCR)
- UniSTS:54056

STS-D30755 (e-PCR)
- UniSTS:47472

D5S2296E (e-PCR)
- UniSTS:154504

WI-12122 (e-PCR)
- UniSTS:37818

RH25338 (e-PCR)
- UniSTS:87234

D5S2369 (e-PCR)
- UniSTS:58620

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables mitogen-activated protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables mitogen-activated protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MyD88-dependent toll-like receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in glycoprotein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in leukocyte cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral genome replication	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein deubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in translation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: TNFAIP3-interacting protein 1

Names: A20-binding inhibitor of NF-kappa-B activation 1; HIV-1 Nef-interacting protein; Nef-associated factor 1 SNP; virion-associated nuclear shuttling protein

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_030590.1 RefSeqGene

Range

11627..62716

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001252385.2 → NP_001239314.1 TNFAIP3-interacting protein 1 isoform 1

See identical proteins and their annotated locations for NP_001239314.1

Status: REVIEWED

Description

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

Source sequence(s)

AB252973, AK074400, AK303573, AW589284

Consensus CDS

CCDS75359.1

UniProtKB/TrEMBL

A0A0A0MRZ4, B7Z8K2

Related

ENSP00000374029.3, ENST00000389378.6

Conserved Domains (5) summary

pfam15058
Location:14 → 149

Speriolin_N; Speriolin N terminus

cd16269
Location:367 → 379

GBP_C; coiled coil [structural motif]

cl15254
Location:452 → 500

UBAN; polyubiquitin binding domain of NEMO and related proteins

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl20817
Location:298 → 399

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001252386.2 → NP_001239315.1 TNFAIP3-interacting protein 1 isoform 2

See identical proteins and their annotated locations for NP_001239315.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains multiple differences in the coding region, compared to variant 1, one of which is the use of a downstream start codon. Isoform 2 has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AB252975, AK074400, AW589284, BX640647

Consensus CDS

CCDS58982.1

UniProtKB/TrEMBL

B7Z5B0

Related

ENSP00000429891.1, ENST00000520931.5

Conserved Domains (4) summary

cd16269
Location:314 → 326

GBP_C; coiled coil [structural motif]

cl15254
Location:399 → 447

UBAN; polyubiquitin binding domain of NEMO and related proteins

cl19252
Location:161 → 198

MreC; rod shape-determining protein MreC

cl20817
Location:245 → 346

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001252390.2 → NP_001239319.1 TNFAIP3-interacting protein 1 isoform 3

See identical proteins and their annotated locations for NP_001239319.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) is longer and contains a distinct C-terminus, compared to isoform 1. Variants 3, 4, 5 and 8 encode the same protein (isoform 3).

Source sequence(s)

AB252970, AC008641, AK074400, AK290999, AW589284

Consensus CDS

CCDS34280.1

UniProtKB/Swiss-Prot

A4F1W8, A4F1W9, A4F1X2, A4F1X4, A4F1X5, A4F1X6, A4F1X7, A4F1X9, B7Z699, E7EPY1, E7ET96, O76008, Q05KP3, Q05KP4, Q15025, Q6N077, Q96EL9, Q99833, Q9H1J3

UniProtKB/TrEMBL

A8K4N4

Related

ENSP00000428187.1, ENST00000522226.5

Conserved Domains (2) summary

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl25732
Location:298 → 538

SMC_N; RecF/RecN/SMC N terminal domain
NM_001252391.2 → NP_001239320.1 TNFAIP3-interacting protein 1 isoform 3

See identical proteins and their annotated locations for NP_001239320.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) is longer and contains a distinct C-terminus, compared to isoform 1. Variants 3, 4, 5 and 8 encode the same protein (isoform 3).

Source sequence(s)

AB252970, AK074400, AW589284, DA643531

Consensus CDS

CCDS34280.1

UniProtKB/Swiss-Prot

A4F1W8, A4F1W9, A4F1X2, A4F1X4, A4F1X5, A4F1X6, A4F1X7, A4F1X9, B7Z699, E7EPY1, E7ET96, O76008, Q05KP3, Q05KP4, Q15025, Q6N077, Q96EL9, Q99833, Q9H1J3

UniProtKB/TrEMBL

A8K4N4

Related

ENSP00000317891.7, ENST00000315050.11

Conserved Domains (2) summary

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl25732
Location:298 → 538

SMC_N; RecF/RecN/SMC N terminal domain
NM_001252392.2 → NP_001239321.1 TNFAIP3-interacting protein 1 isoform 4

See identical proteins and their annotated locations for NP_001239321.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting isoform (4) is longer and contains a distinct C-terminus, compared to isoform 1. Variants 6 and 7 encode the same protein (isoform 4).

Source sequence(s)

AB252971, AK074400, AW589284, DA643531

Consensus CDS

CCDS58985.1

UniProtKB/TrEMBL

A4F1Y0

Related

ENSP00000428243.1, ENST00000523338.5

Conserved Domains (6) summary

pfam15058
Location:14 → 149

Speriolin_N; Speriolin N terminus

pfam15619
Location:334 → 507

Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

cd16269
Location:367 → 379

GBP_C; coiled coil [structural motif]

cl15254
Location:452 → 500

UBAN; polyubiquitin binding domain of NEMO and related proteins

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl20817
Location:298 → 399

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001252393.2 → NP_001239322.1 TNFAIP3-interacting protein 1 isoform 4

See identical proteins and their annotated locations for NP_001239322.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) uses two alternate splice sites in the 3' coding region, compared to variant 1. The resulting isoform (4) is longer and contains a distinct C-terminus, compared to isoform 1. Variants 6 and 7 encode the same protein (isoform 4).

Source sequence(s)

AB252973, AK074400, AW589284

Consensus CDS

CCDS58985.1

UniProtKB/TrEMBL

A4F1Y0

Related

ENSP00000430971.1, ENST00000518977.5

Conserved Domains (6) summary

pfam15058
Location:14 → 149

Speriolin_N; Speriolin N terminus

pfam15619
Location:334 → 507

Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

cd16269
Location:367 → 379

GBP_C; coiled coil [structural motif]

cl15254
Location:452 → 500

UBAN; polyubiquitin binding domain of NEMO and related proteins

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl20817
Location:298 → 399

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001258454.2 → NP_001245383.1 TNFAIP3-interacting protein 1 isoform 3

See identical proteins and their annotated locations for NP_001245383.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 3, 4, 5 and 8 encode the same protein (isoform 3).

Source sequence(s)

AC008641

Consensus CDS

CCDS34280.1

UniProtKB/Swiss-Prot

A4F1W8, A4F1W9, A4F1X2, A4F1X4, A4F1X5, A4F1X6, A4F1X7, A4F1X9, B7Z699, E7EPY1, E7ET96, O76008, Q05KP3, Q05KP4, Q15025, Q6N077, Q96EL9, Q99833, Q9H1J3

UniProtKB/TrEMBL

A8K4N4

Conserved Domains (2) summary

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl25732
Location:298 → 538

SMC_N; RecF/RecN/SMC N terminal domain
NM_001258455.1 → NP_001245384.1 TNFAIP3-interacting protein 1 isoform 5

See identical proteins and their annotated locations for NP_001245384.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks an exon and uses an alternate splice site in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 5) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AB177543, AC008641

Consensus CDS

CCDS58984.1

UniProtKB/TrEMBL

A8K4N4

Related

ENSP00000431105.1, ENST00000523200.5

Conserved Domains (3) summary

pfam15058
Location:14 → 149

Speriolin_N; Speriolin N terminus

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl25732
Location:298 → 529

SMC_N; RecF/RecN/SMC N terminal domain
NM_001258456.1 → NP_001245385.1 TNFAIP3-interacting protein 1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks two exons in the 3' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 6) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AB177544, AC008641

Consensus CDS

CCDS58983.1

UniProtKB/TrEMBL

E7EMV7

Related

ENSP00000429912.1, ENST00000524280.5

Conserved Domains (6) summary

pfam15058
Location:14 → 149

Speriolin_N; Speriolin N terminus

cd16269
Location:367 → 379

GBP_C; coiled coil [structural motif]

cl02415
Location:323 → 365

DUF922; Bacterial protein of unknown function (DUF922)

cl15254
Location:452 → 500

UBAN; polyubiquitin binding domain of NEMO and related proteins

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl20817
Location:298 → 399

GBP_C; Guanylate-binding protein, C-terminal domain
NM_001364486.2 → NP_001351415.1 TNFAIP3-interacting protein 1 isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' and 3' UTRs and coding sequence and uses an alternate splice junction compared to variant 1, that causes a frameshift. The resulting isoform (7) is shorter at the N-terminus and has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC008641

UniProtKB/TrEMBL

B7Z5B0

Conserved Domains (2) summary

cl19252
Location:161 → 198

MreC; rod shape-determining protein MreC

cl25732
Location:245 → 485

SMC_N; RecF/RecN/SMC N terminal domain
NM_001364487.2 → NP_001351416.1 TNFAIP3-interacting protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks an alternate in-frame exon and uses an alternate splice junction compared to variant 1. The resulting isoform (5) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC008641

Consensus CDS

CCDS58984.1

UniProtKB/TrEMBL

A8K4N4

Related

ENSP00000483944.1, ENST00000610535.5

Conserved Domains (3) summary

pfam15058
Location:14 → 149

Speriolin_N; Speriolin N terminus

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl25732
Location:298 → 529

SMC_N; RecF/RecN/SMC N terminal domain
NM_006058.5 → NP_006049.3 TNFAIP3-interacting protein 1 isoform 3

See identical proteins and their annotated locations for NP_006049.3

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (3) is longer and contains a distinct Cz-terminus, compared to isoform 1. Variants 3, 4, 5 and 8 encode the same protein (isoform 3).

Source sequence(s)

AB252972, AK074400, AW589284

Consensus CDS

CCDS34280.1

UniProtKB/Swiss-Prot

A4F1W8, A4F1W9, A4F1X2, A4F1X4, A4F1X5, A4F1X6, A4F1X7, A4F1X9, B7Z699, E7EPY1, E7ET96, O76008, Q05KP3, Q05KP4, Q15025, Q6N077, Q96EL9, Q99833, Q9H1J3

UniProtKB/TrEMBL

A8K4N4

Related

ENSP00000430760.1, ENST00000521591.6

Conserved Domains (2) summary

cl19252
Location:214 → 251

MreC; rod shape-determining protein MreC

cl25732
Location:298 → 538

SMC_N; RecF/RecN/SMC N terminal domain