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    RNASE1 ribonuclease A family member 1, pancreatic [ Homo sapiens (human) ]

    Gene ID: 6035, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RNASE1provided by HGNC
    Official Full Name
    ribonuclease A family member 1, pancreaticprovided by HGNC
    Primary source
    HGNC:HGNC:10044
    See related
    Ensembl:ENSG00000129538 MIM:180440; AllianceGenome:HGNC:10044
    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
    RAC1; RIB1; RNS1
    Summary
    This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3'-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2',3'-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in pancreas (RPKM 931.1), testis (RPKM 410.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNASE1 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 (20801228..20802844, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14998670..15000286, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21269387..21271003, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984671 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 ribonuclease A family member 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:21281928-21282428 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 NANOG hESC enhancer GRCh37_chr14:21372529-21373030 Neighboring gene ribonuclease A family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:21378679-21379180 Neighboring gene ribonuclease A family member 2C, pseudogene

    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. The solution structure and dynamics of human pancreatic ribonuclease determined by NMR spectroscopy provide insight into its remarkable biological activities and inhibition. Kövér KE, et al. J Mol Biol, 2008 Jun 20. PMID 18495155
    2. Three-dimensional structure of human RNase 1 delta N7 at 1.9 A resolution. Pous J, et al. Acta Crystallogr D Biol Crystallogr, 2001 Apr. PMID 11264578
    3. The structure of an engineered domain-swapped ribonuclease dimer and its implications for the evolution of proteins toward oligomerization. Canals A, et al. Structure, 2001 Oct. PMID 11591351
    4. Ribonuclease A. Raines RT. Chem Rev, 1998 May 7. PMID 11848924
    5. Interactions crucial for three-dimensional domain swapping in the HP-RNase variant PM8. Tubert P, et al. Biophys J, 2011 Jul 20. PMID 21767499, Free PMC Article

    See all (72) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human ribonuclease 1 serves as a secretory ligand of ephrin A4 receptor and induces breast tumor initiation.
      Title: Human ribonuclease 1 serves as a secretory ligand of ephrin A4 receptor and induces breast tumor initiation.
    2. Processing by RNase 1 forms tRNA halves and distinct Y RNA fragments in the extracellular environment.
      Title: Processing by RNase 1 forms tRNA halves and distinct Y RNA fragments in the extracellular environment.
    3. Chromatin immunoprecipitation kinetics revealed that HDAC2 accumulates at the RNASE1 promoter upon TNF-alpha stimulation, indicating an essential role for HDAC2 in regulating RNase1 expression. Thus, proinflammatory stimulation induced recruitment of HDAC2 to attenuate histone acetylation at the RNASE1 promoter site.
      Title: Inflammation-mediated deacetylation of the ribonuclease 1 promoter via histone deacetylase 2 in endothelial cells.
    4. N-glycosylation of human RNase 1 improves its resistance to both thermal denaturation and proteolytic degradation but reduces its catalytic activity.N-glycosylation of Asn34 in human RNase 1 significantly improves overall protein stability while maintaining robust catalytic activity.
      Title: Consequences of the Endogenous N-Glycosylation of Human Ribonuclease 1.
    5. Data suggest that ribonuclease inhibitor (RNH1) protects HeLa cells from ribonuclease 1 (RNase 1).
      Title: Knockout of the Ribonuclease Inhibitor Gene Leaves Human Cells Vulnerable to Secretory Ribonucleases.
    6. Focusing on the increase in an N-glycosylated Asn residue of serum pancreatic ribonuclease 1, specifically Asn(88), affords a new diagnostic marker for pancreatic cancer
      Title: Increased N-glycosylation of Asn⁸⁸ in serum pancreatic ribonuclease 1 is a novel diagnostic marker for pancreatic cancer.
    7. Deletion of five residues in the hinge loop of pancreatic ribonuclease induces formation of a domain-swapped dimer that leads to the generation of linear aggregates of pancreatic RNase, revealed by the crystal packing.
      Title: Three-dimensional domain swapping and supramolecular protein assembly: insights from the X-ray structure of a dimeric swapped variant of human pancreatic RNase.
    8. The reduced conformational flexibility of eosinophil cationic protein can be dynamically and functionally reproduced in the RNase A scaffold.
      Title: Conservation of flexible residue clusters among structural and functional enzyme homologues.
    9. The nuclear transport of PE5 is critical for its cytotoxicity.
      Title: The nuclear transport capacity of a human-pancreatic ribonuclease variant is critical for its cytotoxicity.
    10. The role on the dimerization process of different residues of a domain-swapped dimer human pancreatic ribonuclease variant.
      Title: Interactions crucial for three-dimensional domain swapping in the HP-RNase variant PM8.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with ribonuclease, RNase A family, 1 (RNASE1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses 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 1 (RNASE1) 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

    Clone Names

    • MGC12408

    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 lyase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ribonuclease A activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT involved_in defense response to virus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    ribonuclease pancreatic
    Names
    HP-RNase
    RIB-1
    RNase 1
    RNase A
    RNase upI-1
    ribonuclease 1
    ribonuclease A C1
    ribonuclease, RNase A family, 1 (pancreatic)
    NP_002924.1
    NP_937875.1
    NP_937877.1
    NP_937878.1

    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_002933.5 → NP_002924.1  ribonuclease pancreatic precursor

      See identical proteins and their annotated locations for NP_002924.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is the predominant transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AL133371, BC005324, BP385178
      Consensus CDS
      CCDS9559.1
      UniProtKB/Swiss-Prot
      B2R589, D3DS06, P07998, Q16830, Q16869, Q1KHR2, Q6ICS5, Q9UCB4, Q9UCB5
      UniProtKB/TrEMBL
      W0UV93
      Related
      ENSP00000381057.4, ENST00000397967.5
      Conserved Domains (1) summary
      smart00092
      Location:29 → 152
      RNAse_Pc; Pancreatic ribonuclease

    2. NM_198232.3 → NP_937875.1  ribonuclease pancreatic precursor

      See identical proteins and their annotated locations for NP_937875.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes a different segment in the 5' UTR compared to variant 4. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AI400223, AL133371, BI753463
      Consensus CDS
      CCDS9559.1
      UniProtKB/Swiss-Prot
      B2R589, D3DS06, P07998, Q16830, Q16869, Q1KHR2, Q6ICS5, Q9UCB4, Q9UCB5
      UniProtKB/TrEMBL
      W0UV93
      Related
      ENSP00000399493.2, ENST00000412779.2
      Conserved Domains (1) summary
      smart00092
      Location:29 → 152
      RNAse_Pc; Pancreatic ribonuclease

    3. NM_198234.3 → NP_937877.1  ribonuclease pancreatic precursor

      See identical proteins and their annotated locations for NP_937877.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional segment in the 5' UTR compared to variant 4. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AL133371, AV710596, BC005324, BP385178
      Consensus CDS
      CCDS9559.1
      UniProtKB/Swiss-Prot
      B2R589, D3DS06, P07998, Q16830, Q16869, Q1KHR2, Q6ICS5, Q9UCB4, Q9UCB5
      UniProtKB/TrEMBL
      W0UV93
      Related
      ENSP00000344193.3, ENST00000340900.3
      Conserved Domains (1) summary
      smart00092
      Location:29 → 152
      RNAse_Pc; Pancreatic ribonuclease

    4. NM_198235.3 → NP_937878.1  ribonuclease pancreatic precursor

      See identical proteins and their annotated locations for NP_937878.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an additional segment in the 5' UTR compared to variant 4. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK098375, AL133371, BC005324, BC022882, BP385178
      Consensus CDS
      CCDS9559.1
      UniProtKB/Swiss-Prot
      B2R589, D3DS06, P07998, Q16830, Q16869, Q1KHR2, Q6ICS5, Q9UCB4, Q9UCB5
      UniProtKB/TrEMBL
      W0UV93
      Related
      ENSP00000381060.4, ENST00000397970.4
      Conserved Domains (1) summary
      smart00092
      Location:29 → 152
      RNAse_Pc; 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
      20801228..20802844 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14998670..15000286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P07998.4 GenPept UniProtKB/Swiss-Prot:P07998

    Gene LinkOut

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

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