NOL11 nucleolar protein 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOL11provided by HGNC
Official Full Name: nucleolar protein 11provided by HGNC
Primary source: HGNC:HGNC:24557
See related: Ensembl:ENSG00000130935 MIM:615366; AllianceGenome:HGNC:24557
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
Summary: Enables RNA binding activity. Involved in maturation of SSU-rRNA and positive regulation of transcription of nucleolar large rRNA by RNA polymerase I. Located in nucleolus. Part of t-UTP complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 16.4), appendix (RPKM 14.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q24.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (67717936..67744531)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (68593485..68619780)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (65714052..65740647)

Chromosome 17 - NC_000017.11 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 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?

Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B.
Title: Identification of a novel nucleolar protein complex required for mitotic chromosome segregation through centromeric accumulation of Aurora B.
NOL11 is a novel protein required for the early stages of ribosome biogenesis in humans and is implicated in the pathogenesis of North American Indian childhood cirrhosis.
Title: NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing.

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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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in maturation of SSU-rRNA	IBA Inferred from Biological aspect of Ancestor more info
involved_in maturation of SSU-rRNA	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of t-UTP complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nucleolar protein 11

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_001303272.2 → NP_001290201.1 nucleolar protein 11 isoform 2

See identical proteins and their annotated locations for NP_001290201.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' region and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC006534, AK299483, AW273123, DA772356

UniProtKB/Swiss-Prot

Q9H8H0

Conserved Domains (1) summary

pfam08168
Location:18 → 61

NUC205; NUC205 domain
NM_015462.5 → NP_056277.2 nucleolar protein 11 isoform 1

See identical proteins and their annotated locations for NP_056277.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC006534, AK023702, AK299483, AW273123, DA772356

Consensus CDS

CCDS11671.1

UniProtKB/Swiss-Prot

B7Z5V9, Q7L5S1, Q9H8H0, Q9UG18

Related

ENSP00000253247.4, ENST00000253247.9

Conserved Domains (1) summary

pfam08168
Location:200 → 243

NUC205; NUC205 domain