NOC4L nucleolar complex associated 4 homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: NOC4Lprovided by HGNC
Official Full Name: nucleolar complex associated 4 homologprovided by HGNC
Primary source: HGNC:HGNC:28461
See related: Ensembl:ENSG00000184967 MIM:612819; AllianceGenome:HGNC:28461
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: NOC4; NET49; UTP19
Summary: Enables RNA binding activity. Predicted to be involved in rRNA processing. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 11.3), spleen (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.33

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (132144457..132152468)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (132194000..132202764)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (132629002..132637013)

Chromosome 12 - NC_000012.12 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?

Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer.
Title: Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer.
The results provide the first in vivo genetic evidence that Noc4l plays important roles in early embryogenesis in mice.
Title: Targeted disruption of Noc4l leads to preimplantation embryonic lethality in mice.

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in rRNA processing	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Noc4p-Nop14p complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation 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
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: nucleolar complex protein 4 homolog

Names: NOC4 protein homolog; NOC4-like protein; nucleolar complex-associated protein 4-like protein

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_001414688.1 → NP_001401617.1 nucleolar complex protein 4 homolog isoform 2

Status: VALIDATED

Source sequence(s)

AC138466
NM_001414689.1 → NP_001401618.1 nucleolar complex protein 4 homolog isoform 3

Status: VALIDATED

Source sequence(s)

AC138466
NM_001414690.1 → NP_001401619.1 nucleolar complex protein 4 homolog isoform 4

Status: VALIDATED

Source sequence(s)

AC138466
NM_001414691.1 → NP_001401620.1 nucleolar complex protein 4 homolog isoform 5

Status: VALIDATED

Source sequence(s)

AC138466
NM_001414692.1 → NP_001401621.1 nucleolar complex protein 4 homolog isoform 6

Status: VALIDATED

Source sequence(s)

AC138466
NM_024078.3 → NP_076983.1 nucleolar complex protein 4 homolog isoform 1

See identical proteins and their annotated locations for NP_076983.1

Status: VALIDATED

Description

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

Source sequence(s)

BC071958, HY051629

Consensus CDS

CCDS9277.1

UniProtKB/Swiss-Prot

Q8N2S5, Q96I14, Q9BVI4

Related

ENSP00000328854.1, ENST00000330579.6

Conserved Domains (1) summary

pfam03914
Location:310 → 453

CBF; CBF/Mak21 family