• Gene id: 9118

Gene Summary

• Gene Symbol: INA   Gene   UCSC   Ensembl
• Aliases: NEF5, NF-66, TXBP-1
• Gene name: internexin neuronal intermediate filament protein alpha
• Alternate names: alpha-internexin, 66 kDa neurofilament protein, alpha-Inx, neurofilament 5 (66kD), neurofilament-66, tax-binding protein,
• Gene location: 10q24.33 (103277137: 103290345)     Exons: 3     NC_000010.11
• Gene summary(Entrez): Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport
• OMIM: 610937

Protein Summary

• Protein general information: Q16352  
  • Name: Alpha internexin (Alpha Inx) (66 kDa neurofilament protein) (NF 66) (Neurofilament 66) (Neurofilament 5)
  • Length: 499  
  • Mass: 55391
  • Tissue specificity: Found predominantly in adult CNS.
• Sequence:

  MSFGSEHYLCSSSSYRKVFGDGSRLSARLSGAGGAGGFRSQSLSRSNVASSAACSSASSLGLGLAYRRPPASDGL
  DLSQAAARTNEYKIIRTNEKEQLQGLNDRFAVFIEKVHQLETQNRALEAELAALRQRHAEPSRVGELFQRELRDL
  RAQLEEASSARSQALLERDGLAEEVQRLRARCEEESRGREGAERALKAQQRDVDGATLARLDLEKKVESLLDELA
  FVRQVHDEEVAELLATLQASSQAAAEVDVTVAKPDLTSALREIRAQYESLAAKNLQSAEEWYKSKFANLNEQAAR
  STEAIRASREEIHEYRRQLQARTIEIEGLRGANESLERQILELEERHSAEVAGYQDSIGQLENDLRNTKSEMARH
  LREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTSGLSISGLNPLPNPSYLLPPRILSATTSKVSSTGLSLKKEE
  EEEEASKVASKKTSQIGESFEEILEETVISTKKTEKSNIEETTISSQKI

• Structural information:
  • Protein Domains: (94..40-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR027703  IPR018039  IPR039008  IPR042180  IPR006821  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000358865
• Other Databases: GeneCards:  INA  Malacards:  INA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036464	cytoplasmic ribonucleoprotein granule	IDA	cellular component
GO:0005883	neurofilament	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005883	neurofilament	TAS	cellular component
GO:0099184	structural constituent of postsynaptic intermediate filament cytoskeleton	IEA	molecular function
GO:0098794	postsynapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0045104	intermediate filament cytoskeleton organization	IEA	biological process
GO:0005883	neurofilament	IEA	cellular component
GO:1990830	cellular response to leukemia inhibitory factor	IEA	biological process
GO:0098973	structural constituent of postsynaptic actin cytoskeleton	IEA	molecular function
GO:0060052	neurofilament cytoskeleton organization	IEA	biological process
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0099185	postsynaptic intermediate filament cytoskeleton organization	IEA	biological process
GO:0098974	postsynaptic actin cytoskeleton organization	IEA	biological process
GO:0021762	substantia nigra development	HEP	biological process
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R