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

Gene ID: 64343, updated on 3-Apr-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
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Genomic context

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Location:
3p24.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (28321047..28348824, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (28323113..28350880, complement)
105.20220307 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
  • 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. (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
  2. 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
  3. 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
  4. Flavivirus NS3 and NS5 proteins interaction network: a high-throughput yeast two-hybrid screen. Le Breton M, et al. BMC Microbiol, 2011 Oct 20. PMID 22014111, Free PMC Article
  5. Isolation of the novel cDNA of a gene of which expression is induced by a demethylating stimulus. Miyagawa J, et al. Gene, 1999 Nov 29. PMID 10580148

See all (40) 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_2023_10

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

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