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    ZFC3H1 zinc finger C3H1-type containing [ Homo sapiens (human) ]

    Gene ID: 196441, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ZFC3H1provided by HGNC
    Official Full Name
    zinc finger C3H1-type containingprovided by HGNC
    Primary source
    HGNC:HGNC:28328
    See related
    Ensembl:ENSG00000133858 MIM:620956; AllianceGenome:HGNC:28328
    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
    CSRC2; PSRC2; CCDC131
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in RNA processing. Located in nucleus. Part of exosome (RNase complex). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 12.9), testis (RPKM 11.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFC3H1 in Genome Data Viewer
    Location:
    12q21.1
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (71609599..71663848, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (71587106..71641357, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72003379..72057628, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing G protein-coupled receptor 5 Neighboring gene uncharacterized LOC124902963 Neighboring gene uncharacterized LOC124902964 Neighboring gene MPRA-validated peak1819 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:71985323-71985838 Neighboring gene MPRA-validated peak1820 silencer Neighboring gene small nucleolar RNA SNORA17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6659 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:72057723-72058281 Neighboring gene uncharacterized LOC124902965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4658 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:72080194-72080409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6661 Neighboring gene THAP domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6662 Neighboring gene transmembrane protein 19

    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. ZFC3H1, a zinc finger protein, modulates IL-8 transcription by binding with celastramycin A, a potential immune suppressor. Tomita T, et al. PLoS One, 2014. PMID 25268596, Free PMC Article
    2. The RNA Exosome Adaptor ZFC3H1 Functionally Competes with Nuclear Export Activity to Retain Target Transcripts. Silla T, et al. Cell Rep, 2018 May 15. PMID 29768216, Free PMC Article
    3. Zinc finger C3H1 domain-containing protein (ZFC3H1) evaluates the prognosis and treatment of prostate adenocarcinoma (PRAD): A study based on TCGA data. Huang H, et al. Bioengineered, 2021 Dec. PMID 34514952, Free PMC Article
    4. Zinc finger C3H1-type containing serves as a novel prognostic biomarker in human pan-cancer. Liang W, et al. Gene, 2022 Apr 30. PMID 35131366
    5. An Mtr4/ZFC3H1 complex facilitates turnover of unstable nuclear RNAs to prevent their cytoplasmic transport and global translational repression. Ogami K, et al. Genes Dev, 2017 Jun 15. PMID 28733371, Free PMC Article

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
      Title: PAPγ associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
    2. Zinc finger C3H1-type containing serves as a novel prognostic biomarker in human pan-cancer.
      Title: Zinc finger C3H1-type containing serves as a novel prognostic biomarker in human pan-cancer.
    3. Zinc finger C3H1 domain-containing protein (ZFC3H1) evaluates the prognosis and treatment of prostate adenocarcinoma (PRAD): A study based on TCGA data.
      Title: Zinc finger C3H1 domain-containing protein (ZFC3H1) evaluates the prognosis and treatment of prostate adenocarcinoma (PRAD): A study based on TCGA data.
    4. These results establish ZFC3H1 as a central nuclear polyadenylated (+) RNA retention factor, counteracting nuclear export activity.
      Title: The RNA Exosome Adaptor ZFC3H1 Functionally Competes with Nuclear Export Activity to Retain Target Transcripts.
    5. a critical role for Mtr4/ZFC3H1 in nuclear surveillance of naturally unstable lncRNAs to prevent their accumulation, transport to the cytoplasm, and resultant disruption of protein synthesis
      Title: An Mtr4/ZFC3H1 complex facilitates turnover of unstable nuclear RNAs to prevent their cytoplasmic transport and global translational repression.
    6. The described is the mRNA degradation poly(A) tail exosome targeting (PAXT) connection, which comprises the ZFC3H1 Zn-knuckle protein as a central link between MTR4 and the nuclear poly(A)-binding protein PABPN1.
      Title: Identification of a Nuclear Exosome Decay Pathway for Processed Transcripts.
    7. ZFC3H1 participates in the transcriptional activation of IL-8.
      Title: ZFC3H1, a zinc finger protein, modulates IL-8 transcription by binding with celastramycin A, a potential immune suppressor.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0546, MGC23401, MGC90200, DKFZp686A0722

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of exosome (RNase complex) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of exosome (RNase complex) IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 
    NOT located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger C3H1 domain-containing protein
    Names
    coiled-coil domain containing 131
    coiled-coil domain-containing protein 131
    proline/serine-rich coiled-coil 2
    proline/serine-rich coiled-coil protein 2

    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_144982.5 → NP_659419.3  zinc finger C3H1 domain-containing protein

      See identical proteins and their annotated locations for NP_659419.3

      Status: VALIDATED

      Source sequence(s)
      AB011118, AC073612, BX647709
      Consensus CDS
      CCDS41813.1
      UniProtKB/Swiss-Prot
      O60293, Q6GMU1, Q6P2S9, Q6ZV36, Q96BE7
      Related
      ENSP00000368017.4, ENST00000378743.9
      Conserved Domains (5) summary
      COG0457
      Location:1383 → 1667
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:1604 → 1630
      TPR; TPR repeat [structural motif]
      pfam10650
      Location:1186 → 1204
      zf-C3H1; Putative zinc-finger domain
      pfam13414
      Location:1362 → 1432
      TPR_11; TPR repeat
      pfam13428
      Location:1361 → 1410
      TPR_14; Tetratricopeptide repeat

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      71609599..71663848 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428485.1 → XP_047284441.1  zinc finger C3H1 domain-containing protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      71587106..71641357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60293.3 GenPept UniProtKB/Swiss-Prot:O60293

    Gene LinkOut

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

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