• Gene id: 64434

Gene Summary

• Gene Symbol: NOM1   Gene   UCSC   Ensembl
• Aliases: C7orf3, PPP1R113, SGD1
• Gene name: nucleolar protein with MIF4G domain 1
• Alternate names: nucleolar MIF4G domain-containing protein 1, SGD1 homolog, protein phosphatase 1, regulatory subunit 113,
• Gene location: 7q36.3 (156949711: 156973175)     Exons: 11     NC_000007.14
• Gene summary(Entrez): 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 6026
• OMIM: 611269

Protein Summary

• Protein general information: Q5C9Z4  
  • Name: Nucleolar MIF4G domain containing protein 1 (SGD1 homolog)
  • Length: 860  
  • Mass: 96257
  • Tissue specificity: Expressed in heart and skeletal muscle. {ECO
• Sequence:

  MAASRSAGEAGPGGSQGRVVRMKRRGGRGPRRGPAGGGEKALKRLKLAVEEFVHATSEGEAPGGCEGRGAPVSFR
  PGGRKSRKELRKEKRHLRKARRLQRTAGPEQGPGLGGRSGAEEASGHRQDTEERARPAPSRDPSPPRKPRPSRVK
  AKATAATAKTRPSAAATAAARKRALLAANEEEDREIRKLERCLGLNKRKKKDGSSSVPLSFARDGLDYILGALES
  GKNSGLYDSSGEEEEDAGQTLPESDLESDSQDESEEEEEGDVEKEKKAQEAEAQSEDDDEDTEEEQGEEKEKGAQ
  EKRRGKRVRFAEDEEKSENSSEDGDITDKSLCGSGEKYIPPHVRQAEETVDFKKKEELERLKKHVKGLLNRLSEP
  NMASISGQLEELYMAHSRKDMNDTLTSALMGACVTASAMPSRLMMEHVLLVSILHHTVGIEVGAHFLEAVVRKFD
  AIYKYGSEGKECDNLFTVIAHLYNFHVVQSLLIFDILKKLIGTFTEKDIELILLMLKNVGFSLRKDDALSLKELI
  TEAQTKASGAGSEFQDQTRIRFMLETMLALKNNDMRKIPGYDPEPVEKLRKLQRALVRNAGSGSETQLRVSWDSV
  LSAEQTGRWWIVGSAWSGAPMIDNSHHTHLQKQLVGTVSSKILELARKQRMNTDIRRNIFCTIMTSEDFLDAFEK
  LLKLGLKDQQEREIIHVLMDCCLQEKTYNPFYAFLASKFCEYERRFQMTFQFSIWDKFRDLENLPATNFSNLVHL
  VAHLLKTKSLSLSILKVVEFSELDKPRVRFLRKVLSILLMETEVEDLSLIFTRVSDNPKLGVLREGLKLFISHFL
  LKNAQAHRSADEANVLREKADLATKCLQGKASLRM

• Structural information:
  • Protein Domains: (362..55-)
    (/note="MIF4G-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00698-)
    (654..77-)
    (/note="MI-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00698"-)
  • Interpro: IPR016024  IPR003891  IPR016021  IPR003890  
  • Prosite: PS51366
  • STRING: ENSP00000275820
• Other Databases: GeneCards:  NOM1  Malacards:  NOM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042274	ribosomal small subunit biogenesis	IBA	biological process
GO:0005730	nucleolus	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048820	hair follicle maturation	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray