Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 10318, updated on 19-Jun-2019

    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
    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

    Genomic context

    See TNIP1 in Genome Data Viewer
    Location:
    5q33.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (151029943..151087685, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (150409504..150467221, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378228 Neighboring gene glutathione peroxidase 3 Neighboring gene annexin A6 Neighboring gene uncharacterized LOC107986463

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from BioSystems

    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Ovarian tumor domain proteases, organism-specific biosystem (from REACTOME)
      Ovarian tumor domain proteases, organism-specific biosystemHumans have 16 Overian tumour domain (OTU) family DUBs that can be evolutionally divided into three classes, the OTUs, the Otubains (OTUBs), and the A20-like OTUs (Komander et al. 2009). OTU family ...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystem (from WikiPathways)
      Rac1/Pak1/p38/MMP-2 pathway, organism-specific biosystemRac1/p38 pathway from Ingenuity Pathway Analysis.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0113

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    mitogen-activated protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitogen-activated protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    MyD88-dependent toll-like receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    defense response TAS
    Traceable Author Statement
    more info
    PubMed 
    glycoprotein biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte cell-cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of ERK1 and ERK2 cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of I-kappaB kinase/NF-kappaB signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of viral genome replication TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    translation TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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)

    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

    1. NG_030590.1 RefSeqGene

      Range
      5001..62718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001252385.1NP_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, DC374977
      Consensus CDS
      CCDS75359.1
      UniProtKB/Swiss-Prot
      Q15025
      UniProtKB/TrEMBL
      A0A0A0MRZ4, B7Z8K2
      Related
      ENSP00000374029.3, ENST00000389378.6
      Conserved Domains (5) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. NM_001252386.2NP_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/Swiss-Prot
      Q15025
      Related
      ENSP00000429891.1, ENST00000520931.5
      Conserved Domains (4) summary
      cd16269
      Location:314326
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:399447
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:161198
      MreC; rod shape-determining protein MreC
      cl20817
      Location:245346
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. NM_001252390.2NP_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
      Q15025
      UniProtKB/TrEMBL
      A8K4N4
      Related
      ENSP00000428187.1, ENST00000522226.5
      Conserved Domains (2) summary
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl25732
      Location:298538
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_001252391.2NP_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
      Q15025
      Related
      ENSP00000317891.7, ENST00000315050.11
      Conserved Domains (2) summary
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl25732
      Location:298538
      SMC_N; RecF/RecN/SMC N terminal domain
    5. NM_001252392.2NP_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/Swiss-Prot
      Q15025
      Related
      ENSP00000428243.1, ENST00000523338.5
      Conserved Domains (6) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      pfam15619
      Location:334507
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    6. NM_001252393.2NP_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/Swiss-Prot
      Q15025
      Related
      ENSP00000430971.1, ENST00000518977.5
      Conserved Domains (6) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      pfam15619
      Location:334507
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    7. NM_001258454.2NP_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
      Q15025
      Conserved Domains (2) summary
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl25732
      Location:298538
      SMC_N; RecF/RecN/SMC N terminal domain
    8. NM_001258455.1NP_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/Swiss-Prot
      Q15025
      Related
      ENSP00000431105.1, ENST00000523200.5
      Conserved Domains (3) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl25732
      Location:298529
      SMC_N; RecF/RecN/SMC N terminal domain
    9. NM_001258456.1NP_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/Swiss-Prot
      Q15025
      Related
      ENSP00000429912.1, ENST00000524280.5
      Conserved Domains (6) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl02415
      Location:323365
      DUF922; Bacterial protein of unknown function (DUF922)
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    10. NM_001364486.2NP_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
      Conserved Domains (2) summary
      cl19252
      Location:161198
      MreC; rod shape-determining protein MreC
      cl25732
      Location:245485
      SMC_N; RecF/RecN/SMC N terminal domain
    11. NM_001364487.2NP_001351416.1  TNFAIP3-interacting protein 1 isoform 8

      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 (8) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC008641
      Conserved Domains (3) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl25732
      Location:298529
      SMC_N; RecF/RecN/SMC N terminal domain
    12. NM_006058.5NP_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
      Q15025
      Related
      ENSP00000430760.1, ENST00000521591.5
      Conserved Domains (2) summary
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl25732
      Location:298538
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      151029943..151087685 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268355.2XP_005268412.1  TNFAIP3-interacting protein 1 isoform X4

      See identical proteins and their annotated locations for XP_005268412.1

      UniProtKB/TrEMBL
      A0A0A0MRZ4
      Conserved Domains (5) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    2. XM_006714752.3XP_006714815.1  TNFAIP3-interacting protein 1 isoform X7

      UniProtKB/Swiss-Prot
      Q15025
      Related
      ENSP00000427854.1, ENST00000519339.5
      Conserved Domains (5) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    3. XM_017008946.2XP_016864435.1  TNFAIP3-interacting protein 1 isoform X1

    4. XM_017008947.2XP_016864436.1  TNFAIP3-interacting protein 1 isoform X1

    5. XM_017008949.2XP_016864438.1  TNFAIP3-interacting protein 1 isoform X3

    6. XM_017008948.2XP_016864437.1  TNFAIP3-interacting protein 1 isoform X2

    7. XM_017008945.2XP_016864434.1  TNFAIP3-interacting protein 1 isoform X1

    8. XM_017008950.2XP_016864439.1  TNFAIP3-interacting protein 1 isoform X4

      UniProtKB/TrEMBL
      A0A0A0MRZ4
      Conserved Domains (5) summary
      pfam15058
      Location:14149
      Speriolin_N; Speriolin N terminus
      cd16269
      Location:367379
      GBP_C; coiled coil [structural motif]
      cl15254
      Location:452500
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      cl19252
      Location:214251
      MreC; rod shape-determining protein MreC
      cl20817
      Location:298399
      GBP_C; Guanylate-binding protein, C-terminal domain
    Support Center