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RNASE9 ribonuclease A family member 9 (inactive) [ Homo sapiens (human) ]

Gene ID: 390443, updated on 28-Oct-2024

Summary

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Official Symbol
RNASE9provided by HGNC
Official Full Name
ribonuclease A family member 9 (inactive)provided by HGNC
Primary source
HGNC:HGNC:20673
See related
Ensembl:ENSG00000188655 MIM:614014; AllianceGenome:HGNC:20673
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RAK1; h461; HEL128
Summary
Predicted to enable nucleic acid binding activity. Predicted to be involved in defense response to Gram-positive bacterium. Predicted to act upstream of or within positive regulation of flagellated sperm motility involved in capacitation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
Orthologs
mouse all
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Genomic context

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See RNASE9 in Genome Data Viewer
Location:
14q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (20556093..20561047, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (14753225..14758179, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21024252..21029206, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr14:20995293-20995503 Neighboring gene pentatricopeptide repeat domain 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:20998995-20999494 Neighboring gene SET pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:21027647-21028226 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:21046340-21047110 Neighboring gene ribonuclease A family member 11 (inactive) Neighboring gene RNASE11 and RNASE12 antisense RNA 1 Neighboring gene ribonuclease A family member 12 (inactive) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5567 Neighboring gene tRNA-Pro (anticodon AGG) 2-5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Cloning, expression and location of RNase9 in human epididymis. Liu J, et al. BMC Res Notes, 2008 Nov 10. PMID 18992174, Free PMC Article
  2. LOC 390443 (RNase 9) on chromosome 14q11.2 is related to the RNase A superfamily and contains a unique amino-terminal preproteinlike sequence. Devor EJ, et al. Hum Biol, 2004 Dec. PMID 15974301
  3. Discovery in silico and characterization in vitro of novel genes exclusively expressed in the mouse epididymis. Penttinen J, et al. Mol Endocrinol, 2003 Nov. PMID 12920233
  4. Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients. Kennedy RB, et al. Immunogenetics, 2014 Aug. PMID 24811271, Free PMC Article
  5. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Tao S, et al. Carcinogenesis, 2012 Mar. PMID 22219177, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. may be involved in host defense
    Title: LOC 390443 (RNase 9) on chromosome 14q11.2 is related to the RNase A superfamily and contains a unique amino-terminal preproteinlike sequence.
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

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
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

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
NOT enables RNA nuclease activity IKR
Inferred from Key Residues
more info
 PubMed 
enables nucleic acid binding 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
  
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
inactive ribonuclease-like protein 9
Names
ribonuclear enzyme
ribonuclease A K1
ribonuclease, RNase A family, 9 (non-active)

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_001001673.4 → NP_001001673.3  inactive ribonuclease-like protein 9 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks three alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 5, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AL163195
    Consensus CDS
    CCDS32036.1
    UniProtKB/TrEMBL
    A0AAG2RNW0
    Related
    ENSP00000340162.3, ENST00000338904.7

  2. NM_001110356.2 → NP_001103826.2  inactive ribonuclease-like protein 9 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), also known as alpha2, lacks two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 5, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AL163195
    Consensus CDS
    CCDS32036.1
    UniProtKB/TrEMBL
    A0AAG2RNW0
    Related
    ENSP00000450599.2, ENST00000554964.6

  3. NM_001110357.2 → NP_001103827.2  inactive ribonuclease-like protein 9 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), also known as alpha1, lacks two alternate exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 5, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AL163195
    Consensus CDS
    CCDS32036.1
    UniProtKB/TrEMBL
    A0AAG2RNW0
    Related
    ENSP00000409504.2, ENST00000429244.6

  4. NM_001110358.1 → NP_001103828.1  inactive ribonuclease-like protein 9 isoform 1

    See identical proteins and their annotated locations for NP_001103828.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4, also known as alpha23) lacks an exon in the 5' UTR and uses an alternate splice site in the 5' coding region, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (1).
    Source sequence(s)
    EF061299
    Consensus CDS
    CCDS55904.1
    UniProtKB/Swiss-Prot
    A2RQR8, A8QJS1, P60153, Q5GAN7, Q6KG53
    UniProtKB/TrEMBL
    W0UV99
    Related
    ENSP00000450987.1, ENST00000557209.1
    Conserved Domains (1) summary
    cd00163
    Location:66 → 179
    RNase_A; RNase A family, or Pancreatic RNases family; includes vertebrate RNase homologs to the bovine pancreatic ribonuclease A (RNase A). Many of these enzymes have special biological activities; for example, some stimulate the development of vascular ...

  5. NM_001110359.1 → NP_001103829.1  inactive ribonuclease-like protein 9 isoform 1

    See identical proteins and their annotated locations for NP_001103829.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1, also known as alpha123') represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, and 4 encode the same isoform (1).
    Source sequence(s)
    EF061302
    Consensus CDS
    CCDS53883.1
    UniProtKB/Swiss-Prot
    A2RQR8, A8QJS1, P60153, Q5GAN7, Q6KG53
    UniProtKB/TrEMBL
    W0UV99
    Related
    ENSP00000384683.3, ENST00000404716.7
    Conserved Domains (1) summary
    cd00163
    Location:66 → 179
    RNase_A; RNase A family, or Pancreatic RNases family; includes vertebrate RNase homologs to the bovine pancreatic ribonuclease A (RNase A). Many of these enzymes have special biological activities; for example, some stimulate the development of vascular ...

  6. NM_001110360.1 → NP_001103830.1  inactive ribonuclease-like protein 9 isoform 1

    See identical proteins and their annotated locations for NP_001103830.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3, also known as alpha23') lacks an exon in the 5' UTR, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (1).
    Source sequence(s)
    EF061300
    Consensus CDS
    CCDS53883.1
    UniProtKB/Swiss-Prot
    A2RQR8, A8QJS1, P60153, Q5GAN7, Q6KG53
    UniProtKB/TrEMBL
    W0UV99
    Related
    ENSP00000451160.1, ENST00000556208.5
    Conserved Domains (1) summary
    cd00163
    Location:66 → 179
    RNase_A; RNase A family, or Pancreatic RNases family; includes vertebrate RNase homologs to the bovine pancreatic ribonuclease A (RNase A). Many of these enzymes have special biological activities; for example, some stimulate the development of vascular ...

  7. NM_001110361.1 → NP_001103831.1  inactive ribonuclease-like protein 9 isoform 1

    See identical proteins and their annotated locations for NP_001103831.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2, also known as alpha123) uses an alternate splice site in the 5' coding region, compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (1).
    Source sequence(s)
    EF061301
    Consensus CDS
    CCDS55904.1
    UniProtKB/Swiss-Prot
    A2RQR8, A8QJS1, P60153, Q5GAN7, Q6KG53
    UniProtKB/TrEMBL
    W0UV99
    Related
    ENSP00000450570.1, ENST00000553706.5
    Conserved Domains (1) summary
    cd00163
    Location:66 → 179
    RNase_A; RNase A family, or Pancreatic RNases family; includes vertebrate RNase homologs to the bovine pancreatic ribonuclease A (RNase A). Many of these enzymes have special biological activities; for example, some stimulate the development of vascular ...

  8. NM_001289110.2 → NP_001276039.2  inactive ribonuclease-like protein 9 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate exon in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1. Variants 5, 6, 7, and 8 encode the same isoform (2).
    Source sequence(s)
    AL163195
    Consensus CDS
    CCDS32036.1
    UniProtKB/TrEMBL
    A0AAG2RNW0
    Related
    ENSP00000451285.1, ENST00000553541.5

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
    20556093..20561047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    14753225..14758179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P60153.1 GenPept UniProtKB/Swiss-Prot:P60153

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