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Tbio WD repeat-containing protein 41

Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292).

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Property Summary

NCBI Gene PubMed Count 13
PubMed Score 1.20
PubTator Score 1.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count P-value
adrenocortical carcinoma 1428 6.7e-06
ovarian cancer 8520 1.1e-05
Pick disease 1894 1.5e-04
osteosarcoma 7950 2.2e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Disease of mental health 36 0.0 2.4

Expression

  Differential Expression (4)

Disease log2 FC p
adrenocortical carcinoma 1.238 6.7e-06
osteosarcoma -1.272 2.2e-02
ovarian cancer -1.400 1.1e-05
Pick disease -1.100 1.5e-04

Synonym

Accession Q9HAD4 B4DT55 Q7Z792 Q8IWG3 Q8IXA9 Q8NDA7 Q9NV62
Symbols MSTP048

Gene

WDR41

  Ortholog (14)

Species Source Disease
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG

 UniProt Keyword (8)

 GO Component (3)

 GO Process (3)

 Compartment GO Term (13)

 GWAS Trait (3)

 HCA RNA Cell Line (56)

See all...

Gene RIF (5)

AA Sequence 

MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASAGDDGIVVVWN      1 - 70
AQTGEKLLELNGHTQKITAIITFPSLESCEEKNQLILTASADRTVIVWDGDTTRQVQRISCFQSTVKCLT     71 - 140
VLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALVEIPKNCVVAAVGKELIIFRLVAPTEGSLEW    141 - 210
DILEVKRLLDHQDNILSLINVNDLSFVTGSHVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQK    211 - 280
SNDISIHHFTCDEENVFAAVGRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPNRQLISCSEDGSVRIWE    281 - 350
LREKQQLAAEPVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLV    351 - 420
TCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV                                   421 - 459
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Text Mined References (16)

PMID Year Title