• Gene id: 203228

Gene Summary

• Gene Symbol: C9orf72   Gene   UCSC   Ensembl
• Aliases: ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
• Gene name: C9orf72-SMCR8 complex subunit
• Alternate names: guanine nucleotide exchange C9orf72, protein C9orf72,
• Gene location: 9p21.2 (27573865: 27546545)     Exons: 12     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to
• OMIM: 614260

Protein Summary

• Protein general information: Q96LT7  
  • Name: Guanine nucleotide exchange C9orf72
  • Length: 481  
  • Mass: 54328
  • Tissue specificity: Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level). {ECO
• Sequence:

  MSTLCPPPSPAVAKTEIALSGKSPLLAATFAYWDNILGPRVRHIWAPKTEQVLLSDGEITFLANHTLNGEILRNA
  ESGAIDVKFFVLSEKGVIIVSLIFDGNWNGDRSTYGLSIILPQTELSFYLPLHRVCVDRLTHIIRKGRIWMHKER
  QENVQKIILEGTERMEDQGQSIIPMLTGEVIPVMELLSSMKSHSVPEEIDIADTVLNDDDIGDSCHEGFLLNAIS
  SHLQTCGCSVVVGSSAEKVNKIVRTLCLFLTPAERKCSRLCEAESSFKYESGLFVQGLLKDSTGSFVLPFRQVMY
  APYPTTHIDVDVNTVKQMPPCHEHIYNQRRYMRSELTAFWRATSEEDMAQDTIIYTDESFTPDLNIFQDVLHRDT
  LVKAFLDQVFQLKPGLSLRSTFLAQFLLVLHRKALTLIKYIEDDTQKGKKPFKSLRNLKIDLDLTAEGDLNIIMA
  LAEKIKPGLHSFIFGRPFYTSVQERDVLMTF

• Structural information:
  • Protein Domains: (23..19-)
    (/note="uDENN-C9ORF72-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01179-)
    (200..34-)
    (/note="cDENN-C9ORF72-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01179-)
    (370..46-)
    (/note="dDENN-C9ORF72-type)
    (/evidence="ECO:-)
  • Interpro: IPR027819  
  • Prosite: PS51835
  • STRING: ENSP00000482753
• Other Databases: GeneCards:  C9orf72  Malacards:  C9orf72

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IBA	cellular component
GO:0006914	autophagy	IBA	biological process
GO:0006897	endocytosis	IBA	biological process
GO:0005776	autophagosome	IBA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:1990316	Atg1/ULK1 kinase complex	IDA	colocalizes with
GO:0005737	cytoplasm	IDA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0005776	autophagosome	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0010506	regulation of autophagy	IMP	biological process
GO:1903432	regulation of TORC1 signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006914	autophagy	IMP	biological process
GO:0006897	endocytosis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0032045	guanyl-nucleotide exchange factor complex	IDA	cellular component
GO:0016239	positive regulation of macroautophagy	IGI	biological process
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0110053	regulation of actin filament organization	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1904425	negative regulation of GTP binding	IEA	biological process
GO:1903432	regulation of TORC1 signaling	IEA	biological process
GO:1902774	late endosome to lysosome transport	IEA	biological process
GO:0048675	axon extension	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0010506	regulation of autophagy	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0000932	P-body	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0044295	axonal growth cone	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0044304	main axon	IDA	cellular component
GO:0000932	P-body	IDA	cellular component
GO:0110053	regulation of actin filament organization	IMP	biological process
GO:0001933	negative regulation of protein phosphorylation	IMP	biological process
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:2000785	regulation of autophagosome assembly	IMP	biological process
GO:0048675	axon extension	IMP	biological process
GO:1902774	late endosome to lysosome transport	ISS	biological process
GO:0034063	stress granule assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal

Diseases

Associated diseases	References
Frontotemporal dementia and amyotrophic lateral sclerosis	KEGG:H02342
Frontotemporal dementia and amyotrophic lateral sclerosis	KEGG:H02342
Teratozoospermia	MIK: 17327269

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)