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    AZI2 5-azacytidine induced 2 [ Homo sapiens (human) ]

    Gene ID: 64343, updated on 28-Oct-2024

    Summary

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    Official Symbol
    AZI2provided by HGNC
    Official Full Name
    5-azacytidine induced 2provided by HGNC
    Primary source
    HGNC:HGNC:24002
    See related
    Ensembl:ENSG00000163512 MIM:609916; AllianceGenome:HGNC:24002
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AZ2; NAP1; TILP
    Summary
    AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in fat (RPKM 22.5), thyroid (RPKM 15.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AZI2 in Genome Data Viewer
    Location:
    3p24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (28321047..28348824, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (28323113..28350880, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (28362538..28390315, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1967 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:28100418-28101018 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:28101019-28101619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14154 Neighboring gene uncharacterized LOC105377008 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19620 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:28240525-28241724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14156 Neighboring gene C-X9-C motif containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19621 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:28390429-28391409 Neighboring gene zinc finger CW-type and PWWP domain containing 2 Neighboring gene CIAO2A pseudogene 1 Neighboring gene ribosomal protein L34 pseudogene 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. NAK-associated protein 1/NAP1 activates TBK1 to ensure accurate mitosis and cytokinesis. Paul S, et al. J Cell Biol, 2024 Feb 5. PMID 38059900, Free PMC Article
    2. AZI2 mediates TBK1 activation at unresolved selective autophagy cargo receptor complexes with implications for CD8 T-cell infiltration in breast cancer. Yeo SK, et al. Autophagy, 2024 Mar. PMID 37733921, Free PMC Article
    3. Cutting Edge: NF-kappaB-activating kinase-associated protein 1 participates in TLR3/Toll-IL-1 homology domain-containing adapter molecule-1-mediated IFN regulatory factor 3 activation. Sasai M, et al. J Immunol, 2005 Jan 1. PMID 15611223
    4. (AZI2)3'UTR Is a New SLC6A3 Downregulator Associated with an Epistatic Protection Against Substance Use Disorders. Liu K, et al. Mol Neurobiol, 2018 Jul. PMID 28983843, Free PMC Article
    5. Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins. Li F, et al. Nat Commun, 2016 Sep 13. PMID 27620379, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. AZI2 mediates TBK1 activation at unresolved selective autophagy cargo receptor complexes with implications for CD8 T-cell infiltration in breast cancer.
      Title: AZI2 mediates TBK1 activation at unresolved selective autophagy cargo receptor complexes with implications for CD8 T-cell infiltration in breast cancer.
    2. NAK-associated protein 1/NAP1 activates TBK1 to ensure accurate mitosis and cytokinesis.
      Title: NAK-associated protein 1/NAP1 activates TBK1 to ensure accurate mitosis and cytokinesis.
    3. (AZI2)3'UTR confers variant-dependent transcriptional regulation of SLC6A3, a potential risk factor for substance abuse disorders.
      Title: (AZI2)3'UTR Is a New SLC6A3 Downregulator Associated with an Epistatic Protection Against Substance Use Disorders.
    4. the spatiotemporal mobilization of TICAM-1 in response to dsRNA and the formation of the TICAM-1 speckles containing RIP1 and NAP1 are important for the activation of the TLR3-TICAM-1 pathway.
      Title: Spatiotemporal mobilization of Toll/IL-1 receptor domain-containing adaptor molecule-1 in response to dsRNA.
    5. Both the cytoplasmic and TLR3-mediated dsRNA recognition pathways converge upon NAP1 for the activation of the IRF-3 and IFN-beta promoter.
      Title: NAK-associated protein 1 participates in both the TLR3 and the cytoplasmic pathways in type I IFN induction.
    6. These results define NAK-associated protein 1 (NAP1) as an activator of IkappaB kinase-related kinases and suggest that the NAK-NAP1 complex may protect cells from TNF-alpha-induced apoptosis by promoting NF-kappaB activation.
      Title: Identification of NAP1, a regulatory subunit of IkappaB kinase-related kinases that potentiates NF-kappaB signaling.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in defense response to virus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in dendritic cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in dendritic cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of canonical NF-kappaB signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in type I interferon-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of serine/threonine protein kinase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    5-azacytidine-induced protein 2
    Names
    5-azacytidine induced gene 2
    NAK-associated protein 1
    NF-kappa-B-activating kinase-associated 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.

    mRNA and Protein(s)

    1. NM_001134432.2 → NP_001127904.1  5-azacytidine-induced protein 2 isoform b

      See identical proteins and their annotated locations for NP_001127904.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BX327318, BX386357, CF528511
      Consensus CDS
      CCDS46782.1
      UniProtKB/TrEMBL
      C9JVK8
      Related
      ENSP00000391696.2, ENST00000420543.6
      Conserved Domains (2) summary
      cl19219
      Location:160 → 221
      DUF342; Protein of unknown function (DUF342)
      cl25732
      Location:46 → 233
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001134433.2 → NP_001127905.1  5-azacytidine-induced protein 2 isoform c

      See identical proteins and their annotated locations for NP_001127905.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      CB995808, CF528511, DA485515
      Consensus CDS
      CCDS46783.1
      UniProtKB/TrEMBL
      C9JVK8
      Related
      ENSP00000335609.6, ENST00000334100.10

    3. NM_001271650.2 → NP_001258579.1  5-azacytidine-induced protein 2 isoform d

      See identical proteins and their annotated locations for NP_001258579.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon and uses an alternate splice site in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AC098616, BM546093, BX648471, DA485515
      Conserved Domains (2) summary
      pfam12845
      Location:104 → 153
      TBD; TBD domain
      cl19219
      Location:48 → 121
      DUF342; Protein of unknown function (DUF342)

    4. NM_022461.5 → NP_071906.1  5-azacytidine-induced protein 2 isoform a

      See identical proteins and their annotated locations for NP_071906.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC098616, AK025592, AK290637, BX648471
      Consensus CDS
      CCDS2647.1
      UniProtKB/Swiss-Prot
      A8K3M2, C9JB40, H7BXU6, Q86W99, Q9BQF1, Q9H6S1
      Related
      ENSP00000419371.1, ENST00000479665.6
      Conserved Domains (2) summary
      pfam12845
      Location:216 → 265
      TBD; TBD domain
      cl19219
      Location:160 → 233
      DUF342; Protein of unknown function (DUF342)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      28321047..28348824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005265392.4 → XP_005265449.1  5-azacytidine-induced protein 2 isoform X2

      See identical proteins and their annotated locations for XP_005265449.1

      UniProtKB/Swiss-Prot
      A8K3M2, C9JB40, H7BXU6, Q86W99, Q9BQF1, Q9H6S1
      Conserved Domains (2) summary
      pfam12845
      Location:216 → 265
      TBD; TBD domain
      cl19219
      Location:160 → 233
      DUF342; Protein of unknown function (DUF342)

    2. XM_047448718.1 → XP_047304674.1  5-azacytidine-induced protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A8K3M2, C9JB40, H7BXU6, Q86W99, Q9BQF1, Q9H6S1

    3. XM_011534009.3 → XP_011532311.1  5-azacytidine-induced protein 2 isoform X1

      Conserved Domains (2) summary
      pfam12845
      Location:219 → 268
      TBD; TBD domain
      cl19219
      Location:163 → 236
      DUF342; Protein of unknown function (DUF342)

    4. XM_011534011.3 → XP_011532313.1  5-azacytidine-induced protein 2 isoform X4

      UniProtKB/TrEMBL
      C9JVK8

    5. XM_011534010.3 → XP_011532312.1  5-azacytidine-induced protein 2 isoform X3

      UniProtKB/TrEMBL
      C9JVK8
      Conserved Domains (1) summary
      cl19219
      Location:163 → 224
      DUF342; Protein of unknown function (DUF342)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      28323113..28350880 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347539.1 → XP_054203514.1  5-azacytidine-induced protein 2 isoform X2

      UniProtKB/Swiss-Prot
      A8K3M2, C9JB40, H7BXU6, Q86W99, Q9BQF1, Q9H6S1

    2. XM_054347540.1 → XP_054203515.1  5-azacytidine-induced protein 2 isoform X3

    3. XM_054347541.1 → XP_054203516.1  5-azacytidine-induced protein 2 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_203326.1: Suppressed sequence

      Description
      NM_203326.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6S1.1 GenPept UniProtKB/Swiss-Prot:Q9H6S1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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