KEGG   Homo sapiens (human): 55626
Entry
55626             CDS       T01001                                 

Gene name
AMBRA1, DCAF3, WDR94
Definition
(RefSeq) autophagy and beclin 1 regulator 1
  KO
K17985  activating molecule in BECN1-regulated autophagy protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04140  Autophagy - animal
hsa05010  Alzheimer disease
hsa05014  Amyotrophic lateral sclerosis
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06128  Autophagy (viruses and bacteria)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06228  Autophagy
nt06413  Autophagy
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
  Element
N00155  Autophagy-vesicle nucleation
N00962  Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    55626 (AMBRA1)
   04137 Mitophagy - animal
    55626 (AMBRA1)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    55626 (AMBRA1)
   05014 Amyotrophic lateral sclerosis
    55626 (AMBRA1)
   05016 Huntington disease
    55626 (AMBRA1)
   05017 Spinocerebellar ataxia
    55626 (AMBRA1)
   05022 Pathways of neurodegeneration - multiple diseases
    55626 (AMBRA1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    55626 (AMBRA1)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    55626 (AMBRA1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Mitophagy
   PINK1-Parkin associated proteins
    55626 (AMBRA1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitophagy factors
   Parkin-dependent mechanism factors
    55626 (AMBRA1)
SSDB
Motif
Pfam: ANAPC4_WD40 WD40 eIF2A Spt20 Acyl_CoA_thio
Other DBs
NCBI-GeneID: 55626
NCBI-ProteinID: NP_001254711
OMIM: 611359
HGNC: 25990
Ensembl: ENSG00000110497
Vega: OTTHUMG00000166500
Pharos: Q9C0C7(Tbio)
UniProt: Q9C0C7
LinkDB
Position
11p11.2
AA seq 1301 aa
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLA
FSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEV
RIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEM
ERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLL
HNFLHMLSSRSSGIQTEPFHPPEQASSTQQDQGLLNRPSAFSTVQSSTAGNTLRNLSLGP
TRRSLGGPLSSHPSRYHREIAPGLTGSEWTRTVLSLNSRSEAESMPPPRTSASSVSLLSV
LRQQEGGSQASVYTSATEGRGFPASGLATESDGGNGSSQNNSGSIRHELQCDLRRFFLEY
DRLQELDQSLSGEAPQTQQAQEMLNNNIESERPGPSHQPTPHSSENNSNLSRGHLNRCRA
CHNLLTFNNDTLRWERTTPNYSSGEASSSWQVPSSFESVPSSGSQLPPLERTEGQTPSSS
RLELSSSASPQEERTVGVAFNQETGHWERIYTQSSRSGTVSQEALHQDMPEESSEEDSLR
RRSLALSPRLEYSGAILAHCKLRLPGSCHSPASASQVAGTTGAHHHARLIFAFLVEMEFH
HVSQAGLELLTSGDLPTSASQSAGITGVSHRAWPRLLESSLISLSRYDGAGSREHPIYPD
PARLSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFE
DFEDNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNR
VLAGAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDI
SADGQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVM
VGLASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWL
PEPGLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWR
TDRDMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEG
SEYGASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTE
PGAAHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIP
VSLPSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR
NT seq 3906 nt   +upstreamnt  +downstreamnt
atgaaggttgtcccagaaaagaatgctgtccggatactctgggggcgagaacggggtgct
cgggccatgggagctcagcggcttctgcaggagctggtagaagataaaacccggtggatg
aaatgggagggcaagagagtagaactgccggatagtccacgctctaccttcttattggcc
ttcagcccagacaggactctcttagcctccacccatgtgaaccataatatctatattacg
gaggtgaagactggcaagtgtgttcattccctgattggacaccgccgtactccatggtgt
gtcacttttcatcccaccatctcaggccttattgcttctggctgcctagatggggaggtt
aggatttgggatttacacggtggcagtgaaagctggttcacagatagcaacaatgccatt
gcctccctggctttccaccctacggctcagctcctgctgattgccactgccaatgagatc
cacttctgggactggagtcgacgggaaccctttgctgtggtgaagacagctagtgagatg
gaacgggtccgtctggtgagatttgatccacttggacactacttactcacagcaattgtt
aacccctctaatcaacagggtgatgacgaaccagagatccccatagatggaacagaatta
tcccactaccgtcagcgtgccctcctgcaatcacagccagttcgccggacgcctctcctc
cacaatttcctgcacatgctgtcctcccgctcttctggcatccagaccgagcccttccat
cccccggagcaggcctcgtcaacgcagcaggaccagggcctcctgaaccggccgtctgcc
ttcagtacagtccagagcagcactgccggcaacacgctccgcaacctcagtctgggtcct
acccgccgctctttgggagggcctctgtctagccacccttctaggtatcaccgagaaata
gctcctgggttgacaggatctgagtggacccggacagtactcagtctgaactcccgctct
gaggcggaatccatgcccccgcccagaaccagtgcctcttcggtgagtttgctgtctgtg
ctgagacagcaggaaggtggctctcaggcatctgtgtacacttcagccacagaagggagg
ggttttccggcatcagggttggcaactgagtcagatggagggaatggctccagccaaaac
aactcgggcagcattcgccatgagcttcagtgtgacctgagacgcttctttctggagtat
gaccggcttcaggagctggatcagagcctgagtggggaagctccccagacccaacaggcc
caggaaatgctcaacaataacattgaatctgagaggccaggcccttcccaccagcccacc
ccacacagcagtgagaacaactccaacctgtcccgtggccacctgaatcgctgtcgtgct
tgccacaatctcctgaccttcaacaacgataccctgcgctgggaaagaaccacacctaac
tactcctctggcgaggctagttcctcttggcaggtccccagctcctttgagagtgtgcca
tcaagtggcagccagttgccacctctcgagcggactgagggccaaacgcccagctccagc
aggctggagttgagcagctctgctagtccgcaggaggagaggactgtgggggtggccttt
aaccaggagacaggccactgggaaagaatttacacccagtccagcagatctggaactgtg
tcacaggaggccttacatcaggatatgcctgaggagagctctgaggaggattcactcagg
agacggagtcttgctctgtcacctaggctggagtacagcggcgctatcttggctcactgc
aagctccgcctcccaggttcatgccattctcctgcctcagcttcccaagtagctgggact
acgggagcccaccaccacgcccggctaatttttgcatttttagtagagatggagtttcac
catgttagccaggctggtctcgaactcctgacctcaggtgatctgcccacctcggcctcc
caaagtgctgggattacaggcgtgagccaccgcgcctggccgaggctgctggaatcttcc
ctcatttcattatcccgttatgatggagcaggatccagagagcacccaatttacccagac
ccagcgagattatctcctgctgcatactacgcccagaggatgatccagtatctctcacgg
agagacagtattcgccagcgctccatgcgctaccaacagaaccgtctccgttcttccacc
tcctcctcttcctcagacaaccagggtccatcagtagagggaaccgacttggaatttgag
gactttgaggacaatggtgacagatccaggcaccgagctccacgcaatgcccggatgtct
gcaccttcgcttggacgctttgtcccaaggcgtttcttgctgcctgagtacttgccttat
gctgggatttttcatgaacgtggacagcctggcttggctactcactcttctgttaacagg
gtcctggcaggggcagtgatcggtgatggacagtctgctgtggccagtaacattgccaat
actacctaccggctccagtggtgggacttcactaagtttgacctccctgaaatcagtaat
gcttccgtgaatgtgctggtgcagaactgcaagatctacaatgatgccagctgtgacatt
tctgcagatggccagctcctggcagctttcatccccagcagccagaggggctttcctgat
gaaggcatcctggcagtgtactccctggccccccataacctgggcgaaatgctctacacc
aagcgatttggtcccaatgccatttcggtgagcctgtccccaatgggcagatatgtaatg
gtgggcttggcctcacgaaggatcctgctgcacccctccacagagcacatggtggcccag
gtcttcaggctgcaacaggcccatggtggagagacctccatgaggagagttttcaacgtc
ctttatcccatgcctgccgaccagcggagacatgtcagtatcaactctgcccgttggctg
cctgagccagggcttggcttggcctatggtactaacaaaggagacctggtgatctgccga
ccagaggccttaaactctggtgttgagtactactgggaccagctgaacgagacggtcttc
actgtccattccaacagcaggagcagcgagcggcctggaaccagcagagccacatggagg
acagacagagacatggggctgatgaatgccattgggcttcagccccggaaccctgccacc
tcagtgacatctcagggcacccagactctggcccttcagctgcagaatgccgaaacacag
actgagagggaggtgccggagccagggacagccgcctcaggtcctggtgaaggtgagggt
tcagagtatggtgccagtggagaagatgcgctcagcaggatccagaggctgatggcggag
ggcggcatgacagccgtggtgcagcgggagcagagcaccaccatggcctccatgggcggc
ttcggcaacaacatcatcgtcagccaccgcattcaccgcagctctcagacgggcactgaa
cctggtgccgcccacacctcctcaccccagccctccacctctcggggactgctcccagag
gccgggcaactggcagagcgaggcctaagcccccggacagcttcctgggaccagcctggt
acccctgggcgggagccaacccagccaaccctgccctcttcctcccctgtccccattcct
gtttcccttcccagcgctgagggaccaaccctccactgcgagttgaccaataacaaccac
cttctggatggtggcagcagcaggggggacgctgcaggccctaggggagaaccacggaac
aggtag

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