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    RNASE4 ribonuclease A family member 4 [ Homo sapiens (human) ]

    Gene ID: 6038, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RNASE4provided by HGNC
    Official Full Name
    ribonuclease A family member 4provided by HGNC
    Primary source
    HGNC:HGNC:10047
    See related
    Ensembl:ENSG00000258818 MIM:601030; AllianceGenome:HGNC:10047
    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
    RAB1; RNS4
    Summary
    The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5' exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2013]
    Expression
    Biased expression in liver (RPKM 129.2), fat (RPKM 38.7) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNASE4 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20684560..20701216)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14881670..14898327)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21152719..21169375)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5573 Neighboring gene tRNA-Tyr (anticodon GTA) 5-5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8093 Neighboring gene tRNA-Pro (anticodon TGG) 3-2 Neighboring gene angiogenin Neighboring gene EGFR interacting lncRNA Neighboring gene ReSE screen-validated silencer GRCh37_chr14:21167810-21167975 Neighboring gene uncharacterized LOC124903282 Neighboring gene RAN binding protein 20 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. Ribonuclease 4 is associated with aggressiveness and progression of prostate cancer. Vanli N, et al. Commun Biol, 2022 Jun 25. PMID 35752711, Free PMC Article
    2. Expression and function of human ribonuclease 4 in the kidney and urinary tract. Bender K, et al. Am J Physiol Renal Physiol, 2021 May 1. PMID 33818125, Free PMC Article
    3. A molecular dynamics based investigation reveals the role of rare Ribonuclease 4 variants in amyotrophic lateral sclerosis susceptibility. Padhi AK, et al. Mutat Res, 2019 Jan. PMID 30544007
    4. Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress. Li S, et al. Angiogenesis, 2013 Apr. PMID 23143660, Free PMC Article
    5. The three-dimensional structure of human RNase 4, unliganded and complexed with d(Up), reveals the basis for its uridine selectivity. Terzyan SS, et al. J Mol Biol, 1999 Jan 8. PMID 9878400

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Ribonuclease 4 is associated with aggressiveness and progression of prostate cancer.
      Title: Ribonuclease 4 is associated with aggressiveness and progression of prostate cancer.
    2. Expression and function of human ribonuclease 4 in the kidney and urinary tract.
      Title: Expression and function of human ribonuclease 4 in the kidney and urinary tract.
    3. this is the first study to demonstrate that although rare and not yet clinically correlated, certain rare RNASE4 variants could cause ALS due to their loss-of-function characteristics and highlights the need to discover novel RNASE variants for a comprehensive understanding of structure-function-disease relationships and design effective therapeutics
      Title: A molecular dynamics based investigation reveals the role of rare Ribonuclease 4 variants in amyotrophic lateral sclerosis susceptibility.
    4. RNASE4, STAT3, and miRNA-124 may have a regulatory association with the pathological mechanisms in Huntington's disease.
      Title: Identification of differentially expressed genes and regulatory relationships in Huntington's disease by bioinformatics analysis.
    5. Data show that the transcription of angiogenin (ANG) and ribonuclease 4 (RNASE4) promoter is influenced by RNA polymerase III (Pol III) elements and could be differentially regulated by an intragenic CCCTC binding factor (CTCF)-dependent chromatin loop.
      Title: Transcription of angiogenin and ribonuclease 4 is regulated by RNA polymerase III elements and a CCCTC binding factor (CTCF)-dependent intragenic chromatin loop.
    6. RNASE4 not only stimulates the formation of neurofilaments from mouse embryonic cortical neurons, but also protects hypothermia-induced degeneration
      Title: Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
    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

    • MGC9306

    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 nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ribonuclease A activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in antibacterial humoral response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 

    General protein information

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    Preferred Names
    ribonuclease 4
    Names
    RNase 4
    epididymis secretory sperm binding protein
    ribonuclease A B1
    ribonuclease, RNase A family, 4
    NP_001269121.1
    NP_001269122.1
    NP_002928.1
    NP_919412.1

    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.

    Genomic

    1. NG_033053.1 RefSeqGene

      Range
      5348..22004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282192.2 → NP_001269121.1  ribonuclease 4 precursor

      See identical proteins and their annotated locations for NP_001269121.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AK092422, AL163636, BX247985, CA447209, DA925725
      Consensus CDS
      CCDS9555.1
      UniProtKB/Swiss-Prot
      P34096
      UniProtKB/TrEMBL
      Q53XB4
      Conserved Domains (1) summary
      smart00092
      Location:29 → 147
      RNAse_Pc; Pancreatic ribonuclease

    2. NM_001282193.2 → NP_001269122.1  ribonuclease 4 precursor

      See identical proteins and their annotated locations for NP_001269122.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 4. All four variants encode the same protein.
      Source sequence(s)
      AK092422, AL163636, BU594423, CA447209
      Consensus CDS
      CCDS9555.1
      UniProtKB/Swiss-Prot
      P34096
      UniProtKB/TrEMBL
      Q53XB4
      Related
      ENSP00000381081.2, ENST00000397995.2
      Conserved Domains (1) summary
      smart00092
      Location:29 → 147
      RNAse_Pc; Pancreatic ribonuclease

    3. NM_002937.5 → NP_002928.1  ribonuclease 4 precursor

      See identical proteins and their annotated locations for NP_002928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 4. All four variants encode the same protein.
      Source sequence(s)
      AK092422, AL163636, CA447209
      Consensus CDS
      CCDS9555.1
      UniProtKB/Swiss-Prot
      P34096
      UniProtKB/TrEMBL
      Q53XB4
      Related
      ENSP00000452245.1, ENST00000555835.3
      Conserved Domains (1) summary
      smart00092
      Location:29 → 147
      RNAse_Pc; Pancreatic ribonuclease

    4. NM_194431.3 → NP_919412.1  ribonuclease 4 precursor

      See identical proteins and their annotated locations for NP_919412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 4. All four variants encode the same protein.
      Source sequence(s)
      AL163636, BG616902, CA447209, DR003809
      Consensus CDS
      CCDS9555.1
      UniProtKB/Swiss-Prot
      P34096
      UniProtKB/TrEMBL
      Q53XB4
      Related
      ENSP00000451624.1, ENST00000555597.1
      Conserved Domains (1) summary
      smart00092
      Location:29 → 147
      RNAse_Pc; 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
      20684560..20701216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      14881670..14898327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_194430.1: Suppressed sequence

      Description
      NM_194430.1: This RefSeq was permanently suppressed because it contains the wrong CDS.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P34096.3 GenPept UniProtKB/Swiss-Prot:P34096

    Gene LinkOut

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

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