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    ZNF330 zinc finger protein 330 [ Homo sapiens (human) ]

    Gene ID: 27309, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF330provided by HGNC
    Official Full Name
    zinc finger protein 330provided by HGNC
    Primary source
    HGNC:HGNC:15462
    See related
    Ensembl:ENSG00000109445 MIM:609550; AllianceGenome:HGNC:15462
    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
    NOA36; HSA6591
    Summary
    Predicted to enable zinc ion binding activity. Located in chromosome, centromeric region; midbody; and nuclear lumen. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in heart (RPKM 28.5), thyroid (RPKM 16.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF330 in Genome Data Viewer
    Location:
    4q31.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (141220535..141234697)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (144540345..144554401)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (142142049..142155851)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 9 Neighboring gene uncharacterized LOC124900786 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:141677237-141677879 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:141677880-141678521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:141746857-141747378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:141747379-141747899 Neighboring gene Sharpr-MPRA regulatory region 7410 Neighboring gene ring finger protein 150 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:141972205-141972434 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15715 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:142141834-142142340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:142142341-142142845 Neighboring gene small nucleolar RNA U13 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:142252666-142253865 Neighboring gene long intergenic non-protein coding RNA 2432

    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. Genomic structure and chromosome location of the human gene encoding the zinc finger autoantigen ZNF330. Bolívar J, et al. Cytogenet Cell Genet, 2001. PMID 11528117
    2. NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells. de Melo IS, et al. PLoS One, 2013. PMID 23516598, Free PMC Article
    3. NOA36/ZNF330 is a conserved cystein-rich protein with proapoptotic activity in human cells. de Melo IS, et al. Biochim Biophys Acta, 2009 Dec. PMID 19895853
    4. ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells. Sanchez-Briñas A, et al. Biol Direct, 2023 May 30. PMID 37254218, Free PMC Article
    5. Molecular cloning of a zinc finger autoantigen transiently associated with interphase nucleolus and mitotic centromeres and midbodies. Orthologous proteins with nine CXXC motifs highly conserved from nematodes to humans. Bolívar J, et al. J Biol Chem, 1999 Dec 17. PMID 10593942

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells.
      Title: ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells.
    2. NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells.
      Title: NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells.
    3. NOA36/ZNF330 is translocated from the mitochondria to the cytoplasm when apoptosis is induced and that it contributes to cytochrome c release.
      Title: NOA36/ZNF330 is a conserved cystein-rich protein with proapoptotic activity in human cells.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association study of conduct disorder symptomatology.
    EBI GWAS Catalog

    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

    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 metal ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome, centromeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm 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
    zinc finger protein 330
    Names
    nucleolar autoantigen 36
    nucleolar cysteine-rich protein
    zinc finger autoantigen 330

    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_001292002.2 → NP_001278931.1  zinc finger protein 330 isoform 2

      See identical proteins and their annotated locations for NP_001278931.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, initiates translation at an alternate start codon and lacks an alternate exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AJ006591, AK002106, AK223609, AK294089, BC004421, BU532661
      UniProtKB/TrEMBL
      B4DFG9
      Conserved Domains (1) summary
      pfam06524
      Location:11 → 208
      NOA36; NOA36 protein

    2. NM_014487.6 → NP_055302.1  zinc finger protein 330 isoform 1

      See identical proteins and their annotated locations for NP_055302.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ006591, AK002106, AK223609, BC004421, BU532661
      Consensus CDS
      CCDS3754.1
      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2
      UniProtKB/TrEMBL
      Q53EN0
      Related
      ENSP00000262990.4, ENST00000262990.9
      Conserved Domains (1) summary
      pfam06524
      Location:1 → 268
      NOA36; NOA36 protein

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      141220535..141234697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008033.2 → XP_016863522.1  zinc finger protein 330 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2
      UniProtKB/TrEMBL
      Q53EN0
      Conserved Domains (1) summary
      pfam06524
      Location:1 → 268
      NOA36; NOA36 protein

    2. XM_024453986.2 → XP_024309754.1  zinc finger protein 330 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2
      UniProtKB/TrEMBL
      Q53EN0
      Conserved Domains (1) summary
      pfam06524
      Location:1 → 268
      NOA36; NOA36 protein

    3. XM_047450073.1 → XP_047306029.1  zinc finger protein 330 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      144540345..144554401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349699.1 → XP_054205674.1  zinc finger protein 330 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2

    2. XM_054349697.1 → XP_054205672.1  zinc finger protein 330 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2

    3. XM_054349698.1 → XP_054205673.1  zinc finger protein 330 isoform X1

      UniProtKB/Swiss-Prot
      B2RDA3, Q9Y3S2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3S2.1 GenPept UniProtKB/Swiss-Prot:Q9Y3S2

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