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

Gene ID: 6035, updated on 2-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
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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 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)

Genotypes

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

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