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    RNASE6 ribonuclease A family member 6 [ Homo sapiens (human) ]

    Gene ID: 6039, updated on 9-Dec-2024

    Summary

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    Official Symbol
    RNASE6provided by HGNC
    Official Full Name
    ribonuclease A family member 6provided by HGNC
    Primary source
    HGNC:HGNC:10048
    See related
    Ensembl:ENSG00000169413 MIM:601981; AllianceGenome:HGNC:10048
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAD1; RNS6; RNasek6
    Summary
    The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]
    Expression
    Broad expression in lymph node (RPKM 33.5), appendix (RPKM 26.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNASE6 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20781070..20782467)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14978092..14979588)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21249427..21250626)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984671 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:21219442-21220641 Neighboring gene epididymal protein 3A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8094 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:21240614-21241376 Neighboring gene NANOG hESC enhancer GRCh37_chr14:21243094-21243697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8095 Neighboring gene epididymal protein 3B Neighboring gene uncharacterized LOC105370397 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21281928-21282428 Neighboring gene ribonuclease A family member 1, pancreatic Neighboring gene Sharpr-MPRA regulatory region 8185 Neighboring gene Sharpr-MPRA regulatory region 4676 Neighboring gene MPRA-validated peak2113 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:21296219-21297418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21308316-21308816 Neighboring gene uncharacterized LOC100507513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8097 Neighboring gene ribonuclease A family member 3

    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. Human Ribonuclease 6 Has a Protective Role during Experimental Urinary Tract Infection. Ruiz-Rosado JD, et al. J Innate Immun, 2023. PMID 37980892, Free PMC Article
    2. Characterization of an RNase with two catalytic centers. Human RNase6 catalytic and phosphate-binding site arrangement favors the endonuclease cleavage of polymeric substrates. Prats-Ejarque G, et al. Biochim Biophys Acta Gen Subj, 2019 Jan. PMID 30287244
    3. Insights into the Antimicrobial Mechanism of Action of Human RNase6: Structural Determinants for Bacterial Cell Agglutination and Membrane Permeation. Pulido D, et al. Int J Mol Sci, 2016 Apr 13. PMID 27089320, Free PMC Article
    4. RNASE6 is a novel modifier of APOE-ε4 effects on cognition. Seto M, et al. Neurobiol Aging, 2022 Oct. PMID 35896049, Free PMC Article
    5. Molecular cloning and characterization of a novel human ribonuclease (RNase k6): increasing diversity in the enlarging ribonuclease gene family. Rosenberg HF, et al. Nucleic Acids Res, 1996 Sep 15. PMID 8836175, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human Ribonuclease 6 Has a Protective Role during Experimental Urinary Tract Infection.
      Title: Human Ribonuclease 6 Has a Protective Role during Experimental Urinary Tract Infection.
    2. RNASE6 is a novel modifier of APOE-epsilon4 effects on cognition.
      Title: RNASE6 is a novel modifier of APOE-ε4 effects on cognition.
    3. An RNase6 dual catalytic and extended binding site arrangement facilitates the cleavage of polymeric substrates
      Title: Characterization of an RNase with two catalytic centers. Human RNase6 catalytic and phosphate-binding site arrangement favors the endonuclease cleavage of polymeric substrates.
    4. These results indicate that RNase6, as previously reported for RNase3, is able to specifically agglutinate Gram-negative bacteria as a main trait of its antimicrobial activity.
      Title: Insights into the Antimicrobial Mechanism of Action of Human RNase6: Structural Determinants for Bacterial Cell Agglutination and Membrane Permeation.
    5. Ribonucleases 6 is an antimicrobial peptide with activity against uropathogens and participates in the maintenance of urinary tract sterility.
      Title: Ribonucleases 6 and 7 have antimicrobial function in the human and murine urinary tract.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of ribonuclease K6 (RNASE6) in human B cells PubMed
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of RNase A ribonuclease k6 (RNASE6) in peptide-treated PBMCs 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA nuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA nuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables endonuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to Gram-positive bacterium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ribonuclease K6
    Names
    ribonuclease A D1
    ribonuclease A family member k6
    ribonuclease, RNase A family, k6
    testicular tissue protein Li 166
    NP_005606.1
    XP_016877055.1
    XP_054232514.1
    XP_054232515.1

    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_005615.5 → NP_005606.1  ribonuclease K6 precursor

      See identical proteins and their annotated locations for NP_005606.1

      Status: REVIEWED

      Source sequence(s)
      AI151384, BC020848
      Consensus CDS
      CCDS9558.1
      UniProtKB/Swiss-Prot
      Q93091
      UniProtKB/TrEMBL
      Q6IB39
      Related
      ENSP00000302046.2, ENST00000304677.3
      Conserved Domains (1) summary
      pfam00074
      Location:31 → 147
      RnaseA; Pancreatic ribonuclease

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      20781070..20782467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021566.2 → XP_016877055.1  ribonuclease K6 isoform X1

      UniProtKB/Swiss-Prot
      Q93091
      UniProtKB/TrEMBL
      Q6IB39
      Conserved Domains (1) summary
      pfam00074
      Location:31 → 147
      RnaseA; Pancreatic ribonuclease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14978092..14979588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376539.1 → XP_054232514.1  ribonuclease K6 isoform X1

      UniProtKB/Swiss-Prot
      Q93091
      UniProtKB/TrEMBL
      Q6IB39

    2. XM_054376540.1 → XP_054232515.1  ribonuclease K6 isoform X1

      UniProtKB/Swiss-Prot
      Q93091
      UniProtKB/TrEMBL
      Q6IB39
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q93091.2 GenPept UniProtKB/Swiss-Prot:Q93091

    Gene LinkOut

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