• Gene id: 140775

Gene Summary

• Gene Symbol: SMCR8   Gene   UCSC   Ensembl
• Aliases: DENND8A
• Gene name: SMCR8-C9orf72 complex subunit
• Alternate names: guanine nucleotide exchange protein SMCR8, Smith-Magenis syndrome chromosome region, candidate 8, smith-Magenis syndrome chromosomal region candidate gene 8 protein,
• Gene location: 17p11.2 (18315292: 18328055)     Exons: 2     NC_000017.11
• OMIM: 617074

Protein Summary

• Protein general information: Q8TEV9  
  • Name: Guanine nucleotide exchange protein SMCR8 (Smith Magenis syndrome chromosomal region candidate gene 8 protein)
  • Length: 937  
  • Mass: 105022
  • Tissue specificity: Expressed in all tissues tested. {ECO
• Sequence:

  MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILISEFSEQVGPQPLLTI
  PNDTKVFGTFDLNYFSLRIMSVDYQASFVGHPPGSAYPKLNFVEDSKVVLGDSKEGAFAYVHHLTLYDLEARGFV
  RPFCMAYISADQHKIMQQFQELSAEFSRASECLKTGNRKAFAGELEKKLKDLDYTRTVLHTETEIQKKANDKGFY
  SSQAIEKANELASVEKSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRP
  AYTPKLIKAKSTKCFDKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRALLKQQHITNFLFEDF
  VEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKSSVESVLIKMEQELGDEEYKEVEVTELSSFD
  PQENLDYLDMDMKGSISSGESIEVLGTEKSTSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPS
  EALIPDDFKASYPSAINEEESYPDGNEGAIRFQASISPPELGETEEGSIENTPSQIDSSCCIGKESDGQLVLPST
  PAHTHSDEDGVVSSPPQRHRQKDQGFRVDFSVENANPSSRDNSCEGFPAYELDPSHLLASRDISKTSLDNYSDTT
  SYVSSVASTSSDRIPSAYPAGLSSDRHKKRAGQNALKFIRQYPFAHPAIYSLLSGRTLVVLGEDEAIVRKLVTAL
  AIFVPSYGCYAKPVKHWASSPLHIMDFQKWKLIGLQRVASPAGAGTLHALSRYSRYTSILDLDNKTLRCPLYRGT
  LVPRLADHRTQIKRGSTYYLHVQSMLTQLCSKAFLYTFCHHLHLPTHDKETEELVASRQMSFLKLTLGLVNEDVR
  VVQYLAELLKLHYMQESPGTSHPMLRFDYVPSFLYKI

• Structural information:
  • Protein Domains: (48..22-)
    (/note="uDENN-FLCN/SMCR8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01178,-ECO:0000305|PubMed:23248642)
    (318..83-)
    (/note="cDENN-FLCN/SMCR8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01178,-ECO:0000305|PubMed:23248642")
  • Interpro: IPR037521  IPR037520  
  • Prosite: PS51834
  • STRING: ENSP00000385025
• Other Databases: GeneCards:  SMCR8  Malacards:  SMCR8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032045	guanyl-nucleotide exchange factor complex	IBA	cellular component
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	contributes to
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:0010506	regulation of autophagy	IMP	biological process
GO:1903432	regulation of TORC1 signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0006914	autophagy	IEA	biological process
GO:0005737	cytoplasm	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004860	protein kinase inhibitor activity	IMP	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	contributes to
GO:0006469	negative regulation of protein kinase activity	IMP	biological process
GO:0016242	negative regulation of macroautophagy	IMP	biological process
GO:1901098	positive regulation of autophagosome maturation	IMP	biological process
GO:1902902	negative regulation of autophagosome assembly	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0032045	guanyl-nucleotide exchange factor complex	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:1990316	Atg1/ULK1 kinase complex	IDA	cellular component
GO:0032008	positive regulation of TOR signaling	IMP	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010506	regulation of autophagy	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)