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    NOM1 nucleolar protein with MIF4G domain 1 [ Homo sapiens (human) ]

    Gene ID: 64434, updated on 28-Oct-2024

    Summary

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    Official Symbol
    NOM1provided by HGNC
    Official Full Name
    nucleolar protein with MIF4G domain 1provided by HGNC
    Primary source
    HGNC:HGNC:13244
    See related
    Ensembl:ENSG00000146909 MIM:611269; AllianceGenome:HGNC:13244
    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
    SGD1; C7orf3; PPP1R113
    Summary
    Proteins that contain MIF4G (middle of eIF4G (MIM 600495)) and/or MA3 domains, such as NOM1, function in protein translation. These domains include binding sites for members of the EIF4A family of ATP-dependent DEAD box RNA helicases (see EIF4A1; MIM 602641) (Simmons et al., 2005 [PubMed 15715967]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in testis (RPKM 2.9), lymph node (RPKM 2.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NOM1 in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (156949712..156973176)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158137572..158160981)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (156742406..156765870)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized threonine-rich GPI-anchored glycoprotein PJ4664.02-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156734117-156734882 Neighboring gene uncharacterized LOC105375605 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156741558-156742086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18855 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156761024-156761215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18856 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:156793008-156793178 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156795552-156796258 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:156797975-156798627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18859 Neighboring gene MNX1 antisense RNA 2 Neighboring gene motor neuron and pancreas homeobox 1 Neighboring gene MNX1 antisense RNA 1 (head to head)

    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 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. Identification of nucleolar protein NOM1 as a novel nuclear IGF1R-interacting protein. Solomon-Zemler R, et al. Mol Genet Metab, 2019 Mar. PMID 30639046
    2. Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia. Simmons HM, et al. Gene, 2005 Feb 28. PMID 15715967
    3. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Heus HC, et al. Genomics, 1999 May 1. PMID 10329000
    4. NOM1 targets protein phosphatase I to the nucleolus. Gunawardena SR, et al. J Biol Chem, 2008 Jan 4. PMID 17965019
    5. Human eIF4AIII interacts with an eIF4G-like partner, NOM1, revealing an evolutionarily conserved function outside the exon junction complex. Alexandrov A, et al. Genes Dev, 2011 May 15. PMID 21576267, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Results are consistent with a physiologically-relevant interplay between the nuclear IGF1 signaling pathway and nucleolar protein NOM1.
      Title: Identification of nucleolar protein NOM1 as a novel nuclear IGF1R-interacting protein.
    2. demonstrate direct physical interactions between yeast Sgd1p and Fal1p, and between their human orthologs (NOM1 and eIF4AIII) in vitro and in vivo, identifying human NOM1 as a missing eIF4G-like interacting partner of eIF4AIII
      Title: Human eIF4AIII interacts with an eIF4G-like partner, NOM1, revealing an evolutionarily conserved function outside the exon junction complex.
    3. 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.
    4. Data demonstrate that NOM1 can target PP1 to the nucleolus and show NOM1 nucleolar localization sequence are required for this targeting activity and conclude that NOM1 is a PP1 nucleolar targeting subunit, the first identified in eukaryotic cells.
      Title: NOM1 targets protein phosphatase I to the nucleolus.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16401

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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 biological_process ND
    No biological Data available
    more info
    		  
    involved_in hair follicle maturation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ribosomal small subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 

    General protein information

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    Preferred Names
    nucleolar MIF4G domain-containing protein 1
    Names
    SGD1 homolog
    protein phosphatase 1, regulatory subunit 113

    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_001353366.2 → NP_001340295.1  nucleolar MIF4G domain-containing protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC006357, AY576779
      Conserved Domains (2) summary
      pfam02854
      Location:364 → 560
      MIF4G; MIF4G domain
      cl02653
      Location:656 → 762
      MA3; MA3 domain

    2. NM_138400.2 → NP_612409.1  nucleolar MIF4G domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_612409.1

      Status: VALIDATED

      Source sequence(s)
      AC006357, AY576779
      Consensus CDS
      CCDS34787.1
      UniProtKB/Swiss-Prot
      Q5C9Z4, Q96I08
      Related
      ENSP00000275820.3, ENST00000275820.4
      Conserved Domains (2) summary
      pfam02854
      Location:363 → 559
      MIF4G; MIF4G domain
      cl02653
      Location:655 → 761
      MA3; MA3 domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      156949712..156973176
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_927511.4 RNA Sequence

    2. XR_927513.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      158137572..158160981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487733.1 RNA Sequence

    2. XR_008487734.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5C9Z4.1 GenPept UniProtKB/Swiss-Prot:Q5C9Z4

    Gene LinkOut

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

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