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RNASE6 ribonuclease A family member k6 [ Homo sapiens (human) ]

Gene ID: 6039, updated on 30-Mar-2024

Summary

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Official Symbol
RNASE6provided by HGNC
Official Full Name
ribonuclease A family member k6provided 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
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Genomic context

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Location:
14q11.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20781070..20782467)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14978092..14979588)
105.20220307 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. 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
  2. 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
  3. RNASE6 is a novel modifier of APOE-ε4 effects on cognition. Seto M, et al. Neurobiol Aging, 2022 Oct. PMID 35896049, Free PMC Article
  4. Ribonuclease k6: chromosomal mapping and divergent rates of evolution within the RNase A gene superfamily. Deming MS, et al. Genome Res, 1998 Jun. PMID 9647635
  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 (17) 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)

Genotypes

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, 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_2023_10

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

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