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

Summary

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 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, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (20556093..20561047, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (14753225..14758179, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (21024252..21029090, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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 EBI GWAS CatalogPubMed
Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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

Related

ENSP00000340162.3, ENST00000338904.7
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

Related

ENSP00000450599.2, ENST00000554964.6
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

Related

ENSP00000409504.2, ENST00000429244.6
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 ...
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 ...
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 ...
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 ...
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

Related

ENSP00000451285.1, ENST00000553541.5