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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

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