NOL8 nucleolar protein 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOL8provided by HGNC
Official Full Name: nucleolar protein 8provided by HGNC
Primary source: HGNC:HGNC:23387
See related: Ensembl:ENSG00000198000 MIM:611534; AllianceGenome:HGNC:23387
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: NOP132; C9orf34; bA62C3.3; bA62C3.4
Summary: NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in lymph node (RPKM 8.0), appendix (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.31

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (92297358..92325350, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (104463887..104491986, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (95059640..95087632, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
nucleolar protein 132(Nop132) is associated with the GTP form, but not the GDP form, of ras-related GTP binding protein RRAG A, suggesting that RRAG A might regulate Nop132 function
Title: A novel human nucleolar protein, Nop132, binds to the G proteins, RRAG A/C/D.

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)

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
enables RNA binding	HDA more info	PubMed
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein localization to nucleolus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to nucleolus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nucleolar protein 8

Names: nucleolar protein Nop132

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_001256394.2 → NP_001243323.1 nucleolar protein 8 isoform b

See identical proteins and their annotated locations for NP_001243323.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.

Source sequence(s)

AB105104, BC146810

Consensus CDS

CCDS59135.1

UniProtKB/TrEMBL

A6H8Z4

Related

ENSP00000351723.4, ENST00000358855.8

Conserved Domains (1) summary

cl17169
Location:1 → 20

RRM_SF; RNA recognition motif (RRM) superfamily
NM_001330722.2 → NP_001317651.1 nucleolar protein 8 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate, in-frame exon in the central coding region compared to variant 1. It encodes isoform c, which is shorter than isoform a.

Source sequence(s)

AB105104, AL136097, BM475696, DB227423, DB516208

Consensus CDS

CCDS83384.1

UniProtKB/TrEMBL

A6H8Z4

Related

ENSP00000441300.1, ENST00000535387.5

Conserved Domains (1) summary

cd12226
Location:9 → 88

RRM_NOL8; RNA recognition motif in nucleolar protein 8 (NOL8) and similar proteins
NM_017948.6 → NP_060418.4 nucleolar protein 8 isoform a

See identical proteins and their annotated locations for NP_060418.4

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AB105104, AL136097

Consensus CDS

CCDS47993.1

UniProtKB/Swiss-Prot

Q5TCC7, Q5TCC8, Q5TCD3, Q5TCD5, Q5TCD6, Q5TCD7, Q76D35, Q76FK4, Q7L3E2, Q9H586, Q9H795, Q9H7W7, Q9H9J6, Q9NWA4, Q9NWM4

UniProtKB/TrEMBL

A6H8Z4

Related

ENSP00000401177.2, ENST00000442668.7

Conserved Domains (1) summary

cd12226
Location:9 → 88

RRM_NOL8; RNA recognition motif in nucleolar protein 8 (NOL8) and similar proteins

RNA

NR_046106.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' region, compared to variant 1. This variant is represented as non-coding because use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AB105104, AL136097, BC146810

Related

ENST00000544867.5