Homo sapiens (human): 55626
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Entry
55626 CDS
T01001
Symbol
AMBRA1, DCAF3, WDR94
Name
(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
nt06461
Huntington disease
nt06462
Spinocerebellar ataxia
nt06466
Pathways of neurodegeneration
nt06536
Mitophagy
Element
N00962
Mutation-inactivated ATXN3 to autophagy-vesicle nucleation
N00993
Mutation-caused aberrant Htt to autophagy-vesicle nucleation
N01756
PINK-Parkin-independent ubiquitin-mediated mitophagy
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
WD40_Prp19
WD40_WDHD1_1st
WD40
Beta-prop_EML_2
WD40_CDC20-Fz
WDR55
Beta-prop_WDR90_POC16_2nd
ANAPC4_WD40
Beta-prop_EML
EIF3I
Beta-prop_IFT122_1st
Beta-prop_CAF1B_HIR1
Beta-prop_RIG_2nd
WDR90_beta-prop_4th
Beta-prop_WDR75_1st
eIF2A
Beta-prop_TEP1_2nd
WD40_MABP1-WDR62_2nd
Acyl_CoA_thio
WD40_MABP1-WDR62_1st
Motif
Other DBs
NCBI-GeneID:
55626
NCBI-ProteinID:
NP_001354397
OMIM:
611359
HGNC:
25990
Ensembl:
ENSG00000110497
UniProt:
Q9C0C7
Structure
PDB
PDBj
LinkDB
All DBs
Position
11:complement(46396412..46594023)
Genome browser
AA seq
1298 aa
AA seq
DB search
MKVVPEKNAVRILWGRERGARAMGAQRLLQELVEDKTRWMKWEGKRVELPDSPRSTFLLA
FSPDRTLLASTHVNHNIYITEVKTGKCVHSLIGHRRTPWCVTFHPTISGLIASGCLDGEV
RIWDLHGGSESWFTDSNNAIASLAFHPTAQLLLIATANEIHFWDWSRREPFAVVKTASEM
ERVRLVRFDPLGHYLLTAIVNPSNQQGDDEPEIPIDGTELSHYRQRALLQSQPVRRTPLL
HNFLHMLSSRSSGIQVGEQSTVQDSATPSPPPPPPQPSTERPRTSAYIRLRQRVSYPTAE
CCQHLGILCLCSRCSGTRVPSLLPHQDSVPPASARATTPSFSFVQTEPFHPPEQASSTQQ
DQGLLNRPSAFSTVQSSTAGNTLRNLSLGPTRRSLGGPLSSHPSRYHREIAPGLTGSEWT
RTVLSLNSRSEAESMPPPRTSASSVSLLSVLRQQEGGSQASVYTSATEGRGFPASGLATE
SDGGNGSSQNNSGSIRHELQCDLRRFFLEYDRLQELDQSLSGEAPQTQQAQEMLNNNIES
ERPGPSHQPTPHSSENNSNLSRGHLNRCRACHNLLTFNNDTLRWERTTPNYSSGEASSSW
QVPSSFESVPSSGSQLPPLERTEGQTPSSSRLELSSSASPQEERTVGVAFNQETGHWERI
YTQSSRSGTVSQEALHQDMPEESSEEDSLRRRLLESSLISLSRYDGAGSREHPIYPDPAR
LSPAAYYAQRMIQYLSRRDSIRQRSMRYQQNRLRSSTSSSSSDNQGPSVEGTDLEFEDFE
DNGDRSRHRAPRNARMSAPSLGRFVPRRFLLPEYLPYAGIFHERGQPGLATHSSVNRVLA
GAVIGDGQSAVASNIANTTYRLQWWDFTKFDLPEISNASVNVLVQNCKIYNDASCDISAD
GQLLAAFIPSSQRGFPDEGILAVYSLAPHNLGEMLYTKRFGPNAISVSLSPMGRYVMVGL
ASRRILLHPSTEHMVAQVFRLQQAHGGETSMRRVFNVLYPMPADQRRHVSINSARWLPEP
GLGLAYGTNKGDLVICRPEALNSGVEYYWDQLNETVFTVHSNSRSSERPGTSRATWRTDR
DMGLMNAIGLQPRNPATSVTSQGTQTLALQLQNAETQTEREVPEPGTAASGPGEGEGSEY
GASGEDALSRIQRLMAEGGMTAVVQREQSTTMASMGGFGNNIIVSHRIHRSSQTGTEPGA
AHTSSPQPSTSRGLLPEAGQLAERGLSPRTASWDQPGTPGREPTQPTLPSSSPVPIPVSL
PSAEGPTLHCELTNNNHLLDGGSSRGDAAGPRGEPRNR
NT seq
3897 nt
NT seq
+upstream
nt +downstream
nt
atgaaggttgtcccagaaaagaatgctgtccggatactctgggggcgagaacggggtgct
cgggccatgggagctcagcggcttctgcaggagctggtagaagataaaacccggtggatg
aaatgggagggcaagagagtagaactgccggatagtccacgctctaccttcttattggcc
ttcagcccagacaggactctcttagcctccacccatgtgaaccataatatctatattacg
gaggtgaagactggcaagtgtgttcattccctgattggacaccgccgtactccatggtgt
gtcacttttcatcccaccatctcaggccttattgcttctggctgcctagatggggaggtt
aggatttgggatttacacggtggcagtgaaagctggttcacagatagcaacaatgccatt
gcctccctggctttccaccctacggctcagctcctgctgattgccactgccaatgagatc
cacttctgggactggagtcgacgggaaccctttgctgtggtgaagacagctagtgagatg
gaacgggtccgtctggtgagatttgatccacttggacactacttactcacagcaattgtt
aacccctctaatcaacagggtgatgacgaaccagagatccccatagatggaacagaatta
tcccactaccgtcagcgtgccctcctgcaatcacagccagttcgccggacgcctctcctc
cacaatttcctgcacatgctgtcctcccgctcttctggcatccaggtgggagagcaaagc
acagtgcaagattctgctaccccctcacccccaccgcctccccctcagccctccacggag
cgccccaggacttccgcttacatcaggctccgacagcgggtcagttaccccacagctgag
tgctgccagcaccttgggatcctgtgcctttgcagccgctgctctggcactcgagttcct
tccctcttgccacaccaggacagtgtcccccctgcttctgccagagctactaccccttcc
ttttcttttgtacagaccgagcccttccatcccccggagcaggcctcgtcaacgcagcag
gaccagggcctcctgaaccggccgtctgccttcagtacagtccagagcagcactgccggc
aacacgctccgcaacctcagtctgggtcctacccgccgctctttgggagggcctctgtct
agccacccttctaggtatcaccgagaaatagctcctgggttgacaggatctgagtggacc
cggacagtactcagtctgaactcccgctctgaggcggaatccatgcccccgcccagaacc
agtgcctcttcggtgagtttgctgtctgtgctgagacagcaggaaggtggctctcaggca
tctgtgtacacttcagccacagaagggaggggttttccggcatcagggttggcaactgag
tcagatggagggaatggctccagccaaaacaactcgggcagcattcgccatgagcttcag
tgtgacctgagacgcttctttctggagtatgaccggcttcaggagctggatcagagcctg
agtggggaagctccccagacccaacaggcccaggaaatgctcaacaataacattgaatct
gagaggccaggcccttcccaccagcccaccccacacagcagtgagaacaactccaacctg
tcccgtggccacctgaatcgctgtcgtgcttgccacaatctcctgaccttcaacaacgat
accctgcgctgggaaagaaccacacctaactactcctctggcgaggctagttcctcttgg
caggtccccagctcctttgagagtgtgccatcaagtggcagccagttgccacctctcgag
cggactgagggccaaacgcccagctccagcaggctggagttgagcagctctgctagtccg
caggaggagaggactgtgggggtggcctttaaccaggagacaggccactgggaaagaatt
tacacccagtccagcagatctggaactgtgtcacaggaggccttacatcaggatatgcct
gaggagagctctgaggaggattcactcaggaggaggctgctggaatcttccctcatttca
ttatcccgttatgatggagcaggatccagagagcacccaatttacccagacccagcgaga
ttatctcctgctgcatactacgcccagaggatgatccagtatctctcacggagagacagt
attcgccagcgctccatgcgctaccaacagaaccgtctccgttcttccacctcctcctct
tcctcagacaaccagggtccatcagtagagggaaccgacttggaatttgaggactttgag
gacaatggtgacagatccaggcaccgagctccacgcaatgcccggatgtctgcaccttcg
cttggacgctttgtcccaaggcgtttcttgctgcctgagtacttgccttatgctgggatt
tttcatgaacgtggacagcctggcttggctactcactcttctgttaacagggtcctggca
ggggcagtgatcggtgatggacagtctgctgtggccagtaacattgccaatactacctac
cggctccagtggtgggacttcactaagtttgacctccctgaaatcagtaatgcttccgtg
aatgtgctggtgcagaactgcaagatctacaatgatgccagctgtgacatttctgcagat
ggccagctcctggcagctttcatccccagcagccagaggggctttcctgatgaaggcatc
ctggcagtgtactccctggccccccataacctgggcgaaatgctctacaccaagcgattt
ggtcccaatgccatttcggtgagcctgtccccaatgggcagatatgtaatggtgggcttg
gcctcacgaaggatcctgctgcacccctccacagagcacatggtggcccaggtcttcagg
ctgcaacaggcccatggtggagagacctccatgaggagagttttcaacgtcctttatccc
atgcctgccgaccagcggagacatgtcagtatcaactctgcccgttggctgcctgagcca
gggcttggcttggcctatggtactaacaaaggagacctggtgatctgccgaccagaggcc
ttaaactctggtgttgagtactactgggaccagctgaacgagacggtcttcactgtccat
tccaacagcaggagcagcgagcggcctggaaccagcagagccacatggaggacagacaga
gacatggggctgatgaatgccattgggcttcagccccggaaccctgccacctcagtgaca
tctcagggcacccagactctggcccttcagctgcagaatgccgaaacacagactgagagg
gaggtgccggagccagggacagccgcctcaggtcctggtgaaggtgagggttcagagtat
ggtgccagtggagaagatgcgctcagcaggatccagaggctgatggcggagggcggcatg
acagccgtggtgcagcgggagcagagcaccaccatggcctccatgggcggcttcggcaac
aacatcatcgtcagccaccgcattcaccgcagctctcagacgggcactgaacctggtgcc
gcccacacctcctcaccccagccctccacctctcggggactgctcccagaggccgggcaa
ctggcagagcgaggcctaagcccccggacagcttcctgggaccagcctggtacccctggg
cgggagccaacccagccaaccctgccctcttcctcccctgtccccattcctgtttccctt
cccagcgctgagggaccaaccctccactgcgagttgaccaataacaaccaccttctggat
ggtggcagcagcaggggggacgctgcaggccctaggggagaaccacggaacaggtag
DBGET
integrated database retrieval system
