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    ATMIN ATM interactor [ Homo sapiens (human) ]

    Gene ID: 23300, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ATMINprovided by HGNC
    Official Full Name
    ATM interactorprovided by HGNC
    Primary source
    HGNC:HGNC:29034
    See related
    Ensembl:ENSG00000166454 MIM:614693; AllianceGenome:HGNC:29034
    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
    ASCIZ; ZNF822
    Summary
    Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 24.3), brain (RPKM 16.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATMIN in Genome Data Viewer
    Location:
    16q23.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (81035842..81047350)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (87097372..87108882)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (81069447..81080955)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7727 Neighboring gene C-X9-C motif containing 2 Neighboring gene NANOG hESC enhancer GRCh37_chr16:81032399-81032965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11175 Neighboring gene centromere protein N Neighboring gene CENPN antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7750 Neighboring gene chromosome 16 open reading frame 46 Neighboring gene uncharacterized LOC105371361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81110606-81111266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:81111267-81111925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7751 Neighboring gene glycine cleavage system protein H

    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. Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma. Fang XL, et al. Cell Death Dis, 2024 Feb 6. PMID 38321024, Free PMC Article
    2. Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease. Goggolidou P, et al. Biochem Soc Trans, 2016 Dec 15. PMID 27913685
    3. ATMINistrating ATM signalling: regulation of ATM by ATMIN. Kanu N, et al. Cell Cycle, 2008 Nov 15. PMID 19001856
    4. Mdt1/ASCIZ: a new DNA damage response protein family. Heierhorst J. Cell Cycle, 2008 Sep 1. PMID 18728389
    5. CircMAN1A2 contributes to nasopharyngeal carcinoma progression via enhancing the ubiquitination of ATMIN through miR-135a-3p/UBR5 axis. Dang QQ, et al. Hum Cell, 2023 Mar. PMID 36626032

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma.
      Title: Transcription factor ATMIN facilitates chemoresistance in nasopharyngeal carcinoma.
    2. MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression.
      Title: MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression.
    3. ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.
      Title: ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.
    4. ATMIN is located close to FRA16D and is commonly lost in lung adenocarcinoma (LUAD)and was associated with reduced patient survival. ATMIN is a tumor suppressor in LUAD; fragility at chr16q23 correlates with loss of ATMIN in human LUAD.
      Title: ATMIN Is a Tumor Suppressor Gene in Lung Adenocarcinoma.
    5. PPARgamma promotes ATM signaling and is essential for UBR5 activity targeting ATM interactor (ATMIN).
      Title: PPARγ Interaction with UBR5/ATMIN Promotes DNA Repair to Maintain Endothelial Homeostasis.
    6. This work indicates a novel role for non-canonical Wnt/planar cell polarity signalling in Autosomal Recessive Polycystic Kidney Disease and suggests ATMIN as a modulator of PKHD1.
      Title: Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
    7. The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine
      Title: Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression.
    8. ASCIZ/ATMIN is dispensable for ATM activation, and contradict the previously reported dependence of ATM on ASCIZ/ATMIN.
      Title: ASCIZ/ATMIN is dispensable for ATM signaling in response to replication stress.
    9. WRNIP1 connects PCNA monoubiquitination with ATMIN/ATM to activate ATM signalling in response to replication stress and contribute to the maintenance of genomic stability.
      Title: RAD18, WRNIP1 and ATMIN promote ATM signalling in response to replication stress.
    10. Studies suggest that ATM INteractor (ATMIN) could be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression.
      Title: Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of ATM interactor (ATMIN) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    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

    Clone Names

    • FLJ50270, FLJ61620, FLJ76795, KIAA0431, DKFZp779K1455

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein complex binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATM interactor
    Names
    ATM INteracting protein
    ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein
    ATM/ATR-substrate CHEK2-interacting zinc finger protein
    ATM/ATR-substrate CHK2-interacting zinc finger protein
    zinc finger protein 822

    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_001300728.2 → NP_001287657.1  ATM interactor isoform 2

      See identical proteins and their annotated locations for NP_001287657.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC092718
      Consensus CDS
      CCDS73917.1
      UniProtKB/TrEMBL
      B7Z7B6
      Related
      ENSP00000463478.1, ENST00000564241.5

    2. NM_015251.3 → NP_056066.2  ATM interactor isoform 1

      See identical proteins and their annotated locations for NP_056066.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB007891, AC092718, BC002701, BI259534, BM693775, BX343387, BX375235, CF593326
      Consensus CDS
      CCDS32494.1
      UniProtKB/Swiss-Prot
      A8K4H8, O43313, Q68DC9
      Related
      ENSP00000299575.3, ENST00000299575.5
      Conserved Domains (1) summary
      sd00017
      Location:133 → 160
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      81035842..81047350
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791800.1 Reference GRCh38.p14 PATCHES

      Range
      84081..95589
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      87097372..87108882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43313.2 GenPept UniProtKB/Swiss-Prot:O43313

    Gene LinkOut

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

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