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

    Gene ID: 79050, updated on 10-Dec-2024

    Summary

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    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, Dec 2024]
    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

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    See NOC4L in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132144457..132152468)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132194000..132202764)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (132629002..132637013)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene EP400 pseudogene 1 Neighboring gene uncharacterized LOC107987169 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132611691-132612191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132626950-132627855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7375 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132638821-132639321 Neighboring gene DEAD-box helicase 51 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:132662977-132663497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5114 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5115 Neighboring gene long intergenic non-protein coding RNA 2361 Neighboring gene uncharacterized LOC105370091 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 9

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Targeted disruption of Noc4l leads to preimplantation embryonic lethality in mice. Qin Y, et al. Protein Cell, 2017 Mar. PMID 28012024, Free PMC Article
    2. Oncogenic fusion transcript analysis identified ADAP1-NOC4L, potentially associated with metastatic colorectal cancer. Talebi A, et al. Cancer Med, 2023 Jan. PMID 35702822, Free PMC Article
    3. A Noc complex specifically involved in the formation and nuclear export of ribosomal 40 S subunits. Milkereit P, et al. J Biol Chem, 2003 Feb 7. PMID 12446671
    4. DBC1 is a negative regulator of SIRT1. Kim JE, et al. Nature, 2008 Jan 31. PMID 18235501
    5. The small-subunit processome is a ribosome assembly intermediate. Bernstein KA, et al. Eukaryot Cell, 2004 Dec. PMID 15590835, Free PMC Article

    See all (88) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3162

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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)

    1. NM_001414688.1 → NP_001401617.1  nucleolar complex protein 4 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC138466

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

      Status: VALIDATED

      Source sequence(s)
      AC138466

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

      Status: VALIDATED

      Source sequence(s)
      AC138466

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

      Status: VALIDATED

      Source sequence(s)
      AC138466

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

      Status: VALIDATED

      Source sequence(s)
      AC138466

    6. 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

    RNA

    1. NR_183058.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC138466

    2. NR_183059.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC138466

    3. NR_183060.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC138466

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132144457..132152468
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160007.1 Reference GRCh38.p14 PATCHES

      Range
      51486..59497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132194000..132202764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVI4.1 GenPept UniProtKB/Swiss-Prot:Q9BVI4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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