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

Gene ID: 64434, updated on 5-Mar-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
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Genomic context

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Location:
7q36.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (156949712..156973176)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (158137572..158160981)
105.20220307 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
  • 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. NOM1 targets protein phosphatase I to the nucleolus. Gunawardena SR, et al. J Biol Chem, 2008 Jan 4. PMID 17965019
  4. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. Heus HC, et al. Genomics, 1999 May 1. PMID 10329000
  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 (70) 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_2023_10

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

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