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] See more...

Aliases for NOM1 Gene

Aliases for NOM1 Gene

  • Nucleolar Protein With MIF4G Domain 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 113 2 3
  • Nucleolar MIF4G Domain-Containing Protein 1 3 4
  • SGD1 Homolog 3 4
  • C7orf3 3 4
  • Chromosome 7 Open Reading Frame 3 2
  • PPP1R113 3
  • SGD1 3

External Ids for NOM1 Gene

Previous HGNC Symbols for NOM1 Gene

  • C7orf3

Previous GeneCards Identifiers for NOM1 Gene

  • GC00U921619
  • GC07P156242
  • GC07P156435
  • GC07P156742
  • GC07P150475

Summaries for NOM1 Gene

Entrez Gene Summary for NOM1 Gene

  • 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]

GeneCards Summary for NOM1 Gene

NOM1 (Nucleolar Protein With MIF4G Domain 1) is a Protein Coding gene. Diseases associated with NOM1 include Acheiropody and Ovarian Mucinous Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is CWC22.

UniProtKB/Swiss-Prot Summary for NOM1 Gene

Gene Wiki entry for NOM1 Gene

Additional gene information for NOM1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOM1 Gene

Genomics for NOM1 Gene

GeneHancer (GH) Regulatory Elements for NOM1 Gene

Promoters and enhancers for NOM1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J156948 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 541.9 +0.5 489 4.4 RXRA HNRNPK ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 MYC POLR2G NOM1 lnc-MNX1-11
GH07J157138 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 37.7 +190.1 190142 4.3 FOXK2 HNRNPK EP300 SIN3A NRF1 POLR2G GTF2E2 PHF8 ZFX ZNF639 UBE3C NOM1 ENSG00000224629 lnc-MNX1-6
GH07J157298 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 24.3 +351.2 351196 4.8 ZBTB40 CTCF SP1 TEAD4 PHB2 ZBTB5 REST DNMT1 RFX1 RELA HSALNG0062730 NOM1 UBE3C DNAJB6 lnc-PTPRN2-3
GH07J157005 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.2 +59.2 59242 6.1 EP300 HNRNPK ZBTB40 ZSCAN5C SIN3A POLR2G USF1 SP1 NCOR1 PHF8 MNX1 MNX1-AS1 lnc-LMBR1-4 NOM1 MNX1-AS2 NONHSAG049285.2
GH07J156638 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.7 -309.6 -309631 4.2 HNRNPK ZBTB40 SIN3A NRF1 TCF12 GTF2E2 PHF8 JUND ZFX ZIC2 LINC01006 RNF32 piR-46242 RBM33 NOM1 LMBR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOM1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOM1

Top Transcription factor binding sites by QIAGEN in the NOM1 gene promoter:
  • Nkx6-1

Genomic Locations for NOM1 Gene

Genomic Locations for NOM1 Gene
chr7:156,949,712-156,973,182
(GRCh38/hg38)
Size:
23,471 bases
Orientation:
Plus strand
chr7:156,742,417-156,765,876
(GRCh37/hg19)
Size:
23,460 bases
Orientation:
Plus strand

Genomic View for NOM1 Gene

Genes around NOM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOM1 Gene

Proteins for NOM1 Gene

  • Protein details for NOM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5C9Z4-NOM1_HUMAN
    Recommended name:
    Nucleolar MIF4G domain-containing protein 1
    Protein Accession:
    Q5C9Z4
    Secondary Accessions:
    • Q96I08

    Protein attributes for NOM1 Gene

    Size:
    860 amino acids
    Molecular mass:
    96257 Da
    Quaternary structure:
    • May interact with EIF4A1, EIF4A2 and EIF4A3. Interacts with PPP1CA and PPP1CC.

neXtProt entry for NOM1 Gene

Post-translational modifications for NOM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NOM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NOM1 Gene

Domains & Families for NOM1 Gene

Gene Families for NOM1 Gene

Protein Domains for NOM1 Gene

Blocks:
  • Initiation factor eIF-4 gamma, middle
  • Initiation factor eIF-4 gamma, MA3
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NOM1 Gene

GenScript: Design optimal peptide antigens:
  • SGD1 homolog (NOM1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5C9Z4

UniProtKB/Swiss-Prot:

NOM1_HUMAN :
  • Belongs to the CWC22 family.
Family:
  • Belongs to the CWC22 family.
genes like me logo Genes that share domains with NOM1: view

Function for NOM1 Gene

Molecular function for NOM1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in targeting PPP1CA to the nucleolus.

Phenotypes From GWAS Catalog for NOM1 Gene

Gene Ontology (GO) - Molecular Function for NOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA 21873635
GO:0005515 protein binding IPI,IEA 17965019
genes like me logo Genes that share ontologies with NOM1: view
genes like me logo Genes that share phenotypes with NOM1: view

Animal Models for NOM1 Gene

MGI Knock Outs for NOM1:
  • Nom1 Nom1<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for NOM1 Gene

miRTarBase miRNAs that target NOM1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOM1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NOM1 Gene

Localization for NOM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOM1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOM1 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IBA,IDA 15715967
genes like me logo Genes that share ontologies with NOM1: view

Pathways & Interactions for NOM1 Gene

PathCards logo

SuperPathways for NOM1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NOM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0042274 ribosomal small subunit biogenesis IBA 21873635
GO:0048820 hair follicle maturation IEA --
genes like me logo Genes that share ontologies with NOM1: view

No data available for Pathways by source and SIGNOR curated interactions for NOM1 Gene

Drugs & Compounds for NOM1 Gene

No Compound Related Data Available

Transcripts for NOM1 Gene

mRNA/cDNA for NOM1 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOM1

Alternative Splicing Database (ASD) splice patterns (SP) for NOM1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - - -
SP2: - -
SP3: -
SP4: -
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for NOM1 Gene

GeneLoc Exon Structure for
NOM1

Expression for NOM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NOM1 Gene

This gene is overexpressed in Brain (35.9) and Peripheral blood mononuclear cells (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NOM1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOM1

SOURCE GeneReport for Unigene cluster for NOM1 Gene:

Hs.15825

mRNA Expression by UniProt/SwissProt for NOM1 Gene:

Q5C9Z4-NOM1_HUMAN
Tissue specificity: Expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for NOM1 Gene

  • Muscle(4.2)
genes like me logo Genes that share expression patterns with NOM1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOM1 Gene

Orthologs for NOM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NOM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOM1 31 30
  • 98.41 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOM1 31
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nom1 17 31 30
  • 76.14 (n)
cow
(Bos Taurus)
Mammalia NOM1 31 30
  • 75.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NOM1 31 30
  • 75.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC682058 30
  • 70.25 (n)
oppossum
(Monodelphis domestica)
Mammalia NOM1 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOM1 31 30
  • 72.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOM1 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10492 30
zebrafish
(Danio rerio)
Actinopterygii nom1 31 30
  • 64.23 (n)
OneToOne
Dr.6026 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011285 30
  • 51.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9004 31 30
  • 49.42 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CELE_Y52B11A.10 30
  • 42.1 (n)
Y52B11A.10 31
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGD1 33 31
  • 20 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G17930 30
  • 47.11 (n)
rice
(Oryza sativa)
Liliopsida Os05g0147200 30
  • 47.51 (n)
Os.18996 30
Species where no ortholog for NOM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NOM1 Gene

ENSEMBL:
Gene Tree for NOM1 (if available)
TreeFam:
Gene Tree for NOM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOM1: view image

Paralogs for NOM1 Gene

Paralogs for NOM1 Gene

genes like me logo Genes that share paralogs with NOM1: view

Variants for NOM1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOM1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs12919 -. - p.Val812Metp.Met723Val
rs2302443 - p.Val804Leu
rs2302445 - p.Arg779His
rs6952214 - p.His122Pro
rs6969990 - p.Arg24Gly

Additional dbSNP identifiers (rs#s) for NOM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NOM1 Gene

Variant ID Type Subtype PubMed ID
esv2735655 CNV deletion 23290073
esv3615681 CNV loss 21293372
nsv1015433 CNV gain 25217958
nsv1141840 CNV insertion 24896259
nsv465249 CNV loss 19166990
nsv609210 CNV loss 21841781
nsv824415 CNV gain 20364138

Variation tolerance for NOM1 Gene

Residual Variation Intolerance Score: 83.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.23; 99.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOM1 Gene

Human Gene Mutation Database (HGMD)
NOM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOM1 Gene

Disorders for NOM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NOM1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acheiropody
  • achp
ovarian mucinous adenocarcinoma
  • mucinous carcinoma of ovary
- elite association - COSMIC cancer census association via MalaCards
Search NOM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NOM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NOM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOM1 Gene

Publications for NOM1 Gene

  1. A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (PMID: 10329000) Heus HC … Heutink P (Genomics 1999) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. NOM1 targets protein phosphatase I to the nucleolus. (PMID: 17965019) Gunawardena SR … Conklin KF (The Journal of biological chemistry 2008) 3 4 54
  4. Identification of NOM1, a nucleolar, eIF4A binding protein encoded within the chromosome 7q36 breakpoint region targeted in cases of pediatric acute myeloid leukemia. (PMID: 15715967) Simmons HM … Conklin KF (Gene 2005) 3 4 54
  5. Identification of nucleolar protein NOM1 as a novel nuclear IGF1R-interacting protein. (PMID: 30639046) Solomon-Zemler R … Werner H (Molecular genetics and metabolism 2019) 3 54

Products for NOM1 Gene

Sources for NOM1 Gene