KEGG   VARIANT: 203228v1
Entry
203228v1                      Variant                              

Name
C9ORF72 mutation
Gene
C9orf72  C9orf72-SMCR8 complex subunit [KO:K23609]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614260
Network
nt06413  Autophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01143  Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Reference
  Authors
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R
  Title
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
  Journal
Neuron 72:245-56 (2011)
DOI:10.1016/j.neuron.2011.09.011
Reference
  Authors
Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ
  Title
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
  Journal
Neuron 72:257-68 (2011)
DOI:10.1016/j.neuron.2011.09.010
Reference
  Authors
Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D
  Title
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.
  Journal
Science 339:1335-8 (2013)
DOI:10.1126/science.1232927
LinkDB

KEGG   Homo sapiens (human): 55255
Entry
55255             CDS       T01001                                 

Gene name
WDR41, MSTP048
Definition
(RefSeq) WD repeat domain 41
  KO
K23610  WD repeat-containing protein 41
Organism
hsa  Homo sapiens (human)
Pathway
hsa04140  Autophagy - animal
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06413  Autophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01142  C9orf72-mediated autophagy initiation
N01143  Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    55255 (WDR41)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    55255 (WDR41)
   05022 Pathways of neurodegeneration - multiple diseases
    55255 (WDR41)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55255 (WDR41)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Rab associated proteins
    55255 (WDR41)
SSDB
Motif
Pfam: WD40 DUF5793
Other DBs
NCBI-GeneID: 55255
NCBI-ProteinID: NP_060738
OMIM: 617502
HGNC: 25601
Ensembl: ENSG00000164253
Vega: OTTHUMG00000102169
Pharos: Q9HAD4(Tbio)
UniProt: Q9HAD4 A0A0S2Z5E0
LinkDB
Position
5q13.3-q14.1
AA seq 459 aa
MLRWLIGGGREPQGLAEKSPLQTIGEEQTQNPYTELLVLKAHHDIVRFLVQLDDYRFASA
GDDGIVVVWNAQTGEKLLELNGHTQKITAIITFPSLESCEEKNQLILTASADRTVIVWDG
DTTRQVQRISCFQSTVKCLTVLQRLDVWLSGGNDLCVWNRKLDLLCKTSHLSDTGISALV
EIPKNCVVAAVGKELIIFRLVAPTEGSLEWDILEVKRLLDHQDNILSLINVNDLSFVTGS
HVGELIIWDALDWTMQAYERNFWDPSPQLDTQQEIKLCQKSNDISIHHFTCDEENVFAAV
GRGLYVYSLQMKRVIACQKTAHDSNVLHVARLPNRQLISCSEDGSVRIWELREKQQLAAE
PVPTGFFNMWGFGRVSKQASQPVKKQQENATSCSLELIGDLIGHSSSVEMFLYFEDHGLV
TCSADHLIILWKNGERESGLRSLRLFQKLEENGDLYLAV
NT seq 1380 nt   +upstreamnt  +downstreamnt
atgttgcgatggctgatcgggggaggccgagaaccgcagggactggccgagaaatctcct
ttacagacaataggtgaagaacaaacccagaatccctacactgaactgctagtactgaag
gctcatcatgatattgtacgatttctggtacagttagatgactacagatttgcatctgct
ggtgatgatggaattgtagttgtgtggaatgcccagacaggggaaaaacttttagaactg
aatggacacactcaaaagataacagctattattacatttccttccttggaatcttgtgaa
gagaaaaatcaactcatcttgacagcctctgctgatagaacagttattgtgtgggatggt
gatactaccagacaagttcagagaatatcatgcttccagtctactgtaaagtgtttaact
gttcttcagagactagatgtttggctttctggtgggaatgacctgtgtgtgtggaaccga
aaattagatctcctgtgtaagactagccacctttctgatacaggtattagtgctttggtt
gaaatacctaagaactgtgttgtggcagcagttggcaaagaactgataattttcaggttg
gtagcacccacagaaggatcactagaatgggatattcttgaagttaagcgcctccttgat
caccaggataatattctctcattgattaatgtcaatgatttgagttttgtcaccggctcc
cacgtcggagagctgatcatctgggatgccctggactggaccatgcaggcctatgaacgc
aacttctgggacccatctccacaactggacacccaacaagaaataaaactctgtcaaaaa
tcaaatgacatttctattcatcatttcacatgtgatgaagagaatgtatttgctgcagtt
ggaaggggtttatacgtgtatagccttcaaatgaagcgtgtgattgcctgccagaaaact
gcacatgactccaatgtcctgcacgttgccagacttccaaacaggcagttaatctcatgc
tcagaagatggcagtgtacgcatttgggagttaagagaaaaacagcagcttgcagctgag
cctgtaccaacaggtttttttaacatgtggggatttggaagagtcagcaaacaagccagc
caacctgttaaaaagcagcaagaaaatgctacttcatgttcactggagcttattggagat
ttgattggacactcatcatctgtggagatgtttctatactttgaagatcatggactagtg
acgtgctccgctgatcatctcattattttgtggaaaaatggagagcgagaatctggattg
cgcagtttaagattatttcaaaaattagaggagaatggtgacttataccttgctgtctag

KEGG   Homo sapiens (human): 140775
Entry
140775            CDS       T01001                                 

Gene name
SMCR8, DENND8A
Definition
(RefSeq) SMCR8-C9orf72 complex subunit
  KO
K23611  guanine nucleotide exchange protein SMCR8
Organism
hsa  Homo sapiens (human)
Pathway
hsa04140  Autophagy - animal
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06413  Autophagy
nt06464  Amyotrophic lateral sclerosis
  Element
N01142  C9orf72-mediated autophagy initiation
N01143  Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    140775 (SMCR8)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05014 Amyotrophic lateral sclerosis
    140775 (SMCR8)
   05022 Pathways of neurodegeneration - multiple diseases
    140775 (SMCR8)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    140775 (SMCR8)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Other autophagy associated proteins
   Rab associated proteins
    140775 (SMCR8)
SSDB
Motif
Pfam: Folliculin
Other DBs
NCBI-GeneID: 140775
NCBI-ProteinID: NP_658988
OMIM: 617074
HGNC: 17921
Ensembl: ENSG00000176994
Vega: OTTHUMG00000059394
Pharos: Q8TEV9(Tdark)
UniProt: Q8TEV9
LinkDB
Position
17p11.2
AA seq 937 aa
MISAPDVVAFTKEEEYEEEPYNEPALPEEYSVPLFPFASQGANPWSKLSGAKFSRDFILI
SEFSEQVGPQPLLTIPNDTKVFGTFDLNYFSLRIMSVDYQASFVGHPPGSAYPKLNFVED
SKVVLGDSKEGAFAYVHHLTLYDLEARGFVRPFCMAYISADQHKIMQQFQELSAEFSRAS
ECLKTGNRKAFAGELEKKLKDLDYTRTVLHTETEIQKKANDKGFYSSQAIEKANELASVE
KSIIEHQDLLKQIRSYPHRKLKGHDLCPGEMEHIQDQASQASTTSNPDESADTDLYTCRP
AYTPKLIKAKSTKCFDKKLKTLEELCDTEYFTQTLAQLSHIEHMFRGDLCYLLTSQIDRA
LLKQQHITNFLFEDFVEVDDRMVEKQESIPSKPSQDRPPSSSLEECPIPKVLISVGSYKS
SVESVLIKMEQELGDEEYKEVEVTELSSFDPQENLDYLDMDMKGSISSGESIEVLGTEKS
TSVLSKSDSQASLTVPLSPQVVRSKAVSHRTISEDSIEVLSTCPSEALIPDDFKASYPSA
INEEESYPDGNEGAIRFQASISPPELGETEEGSIENTPSQIDSSCCIGKESDGQLVLPST
PAHTHSDEDGVVSSPPQRHRQKDQGFRVDFSVENANPSSRDNSCEGFPAYELDPSHLLAS
RDISKTSLDNYSDTTSYVSSVASTSSDRIPSAYPAGLSSDRHKKRAGQNALKFIRQYPFA
HPAIYSLLSGRTLVVLGEDEAIVRKLVTALAIFVPSYGCYAKPVKHWASSPLHIMDFQKW
KLIGLQRVASPAGAGTLHALSRYSRYTSILDLDNKTLRCPLYRGTLVPRLADHRTQIKRG
STYYLHVQSMLTQLCSKAFLYTFCHHLHLPTHDKETEELVASRQMSFLKLTLGLVNEDVR
VVQYLAELLKLHYMQESPGTSHPMLRFDYVPSFLYKI
NT seq 2814 nt   +upstreamnt  +downstreamnt
atgatcagcgcccctgacgtagtggccttcaccaaagaggaagagtatgaagaagagcct
tacaatgagccggccctgcctgaggagtactcggtgccgctcttccccttcgccagtcag
ggtgctaacccctggtcaaaactgtccggggccaagttttcgagggacttcattcttatt
tccgagttctctgagcaggtgggaccccaacccttactgaccatccccaatgacaccaaa
gtttttggcacttttgatctcaattacttctccctgcgtatcatgtctgtggattaccag
gcttccttcgtgggccatcctcctggatctgcctaccccaagctgaacttcgtggaggac
tccaaggtggtgctgggagattctaaggagggcgcctttgcatacgtgcaccaccttacc
ctatacgacctggaggcccgtggcttcgtgaggccgttttgcatggcttatatctctgca
gaccagcataaaatcatgcagcagttccaggagctttcagccgaattttccagagcttct
gagtgcttgaagactggcaacaggaaggcatttgctggggaacttgaaaaaaagctgaaa
gacttggattacaccaggacagtgctacacacagaaacggagatccagaagaaagccaac
gacaaaggcttttactcatctcaggcaattgagaaagccaatgaactggccagtgtggag
aagtccatcattgaacatcaagacctgctgaagcagatccgctcataccctcatcggaag
ttgaaggggcatgatttgtgtcctggtgagatggagcacatccaggatcaggccagccag
gcatccactacctctaaccctgatgagtctgccgacacagacctttacacctgcagacca
gcctacaccccaaaacttatcaaagcaaagtccaccaagtgttttgacaagaagttgaag
accttggaggagctctgtgacactgaatatttcacccagaccctggctcagctcagccac
attgaacacatgttcagaggagacctgtgttacctcctgaccagtcagattgatagagca
cttctaaaacaacagcatataacaaactttctctttgaagactttgtggaggtcgatgac
aggatggtggagaaacaagaaagcataccctctaagcccagtcaagacaggccgccttcc
agttctctagaagaatgcccaattcctaaagtgttaattagtgttggttcttacaagtcc
agtgtggagtctgtgttgatcaagatggagcaggaactgggagatgaggagtacaaggaa
gtggaagtgactgagttgagcagtttcgacccccaggaaaacttggactacctggatatg
gatatgaaagggagtatcagcagtggtgaaagtattgaagttttgggcacggagaaatcc
acctccgtgctttctaaatctgacagccaggcaagcctcacagtaccattgagcccccag
gtggtccggagcaaagcagtcagccacaggaccatcagcgaggacagtattgaagtcctc
agtacctgcccctctgaggccctcatccctgatgactttaaggccagctacccaagtgcc
attaatgaagaagaatcatatccagatggcaatgaaggagccatccgcttccaggcaagc
atcagtcctccagaactgggtgagacagaggaaggcagcatagaaaacaccccatcacaa
atagactcctcctgctgtattgggaaggagagcgatggtcagttggtgctgccctccact
ccagcccacacacactctgacgaggatggggtggtgagcagccccccacagcgccacagg
cagaaggaccaggggttccgtgtagacttttcagtggaaaatgccaacccttcttcccga
gacaacagttgtgaagggtttcccgcttatgagctggacccgagccacctgctggctagc
cgggacatcagtaagaccagcctggacaactactcagacaccaccagctacgtgagcagt
gtagcgtccaccagctcagacaggatcccctctgcttatcctgctggcctgtcttccgat
aggcataaaaagagggctggccagaacgccttaaaattcatccgccagtacccctttgcc
cacccagccatctactccctgctcagtgggaggacacttgtggtcctgggggaagatgag
gccatagtcaggaaactcgtgactgcactggctatctttgtccccagctatggctgctac
gctaagcccgtgaaacattgggcctcctcccctttgcacattatggattttcagaagtgg
aagcttattggcttgcagagagtggcctcccctgccggtgccggtaccctccatgccctg
agccgctacagccgctacacgagcatcctggaccttgacaacaaaaccctgcgctgcccc
ctttacagaggcaccctggtgccccgcctggcagaccaccgcacacagatcaagcggggc
agcacctactacctgcatgtccagagcatgctcacccagctctgctccaaggccttcctc
tacaccttctgccaccacctgcacctgcctacccacgacaaggagacagaggagctggta
gccagccgccagatgagcttcctaaagctgaccctgggtctggtgaatgaggatgttagg
gtggtccagtacctggctgagctgctgaagctgcactacatgcaggaatctccagggacc
agccaccccatgctcaggtttgactatgtccccagctttttgtataaaatctga

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