Homo sapiens (human): 8567
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Entry
8567 CDS
T01001
Symbol
MADD, DEEAH, DENN, IG20, NEDDISH, RAB3GEP, RabGEF
Name
(RefSeq) MAP kinase activating death domain
KO
K26162
MAP kinase-activating death domain protein
Organism
hsa
Homo sapiens (human)
Disease
H02397
Neurodevelopmental disorder with movement abnormalities or hypotonia
H02927
DEEAH syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
8567 (MADD)
Membrane trafficking [BR:
hsa04131
]
Exocytosis
Small GTPases and associated proteins
Rab associated proteins
8567 (MADD)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Death_MADD
DENN
uDENN
Motif
Other DBs
NCBI-GeneID:
8567
NCBI-ProteinID:
NP_003673
OMIM:
603584
HGNC:
6766
Ensembl:
ENSG00000110514
UniProt:
Q8WXG6
LinkDB
All DBs
Position
11:47269188..47330031
Genome browser
AA seq
1647 aa
AA seq
DB search
MVQKKKFCPRLLDYLVIVGARHPSSDSVAQTPELLRRYPLEDHTEFPLPPDVVFFCQPEG
CLSVRQRRMSLRDDTSFVFTLTDKDTGVTRYGICVNFYRSFQKRISKEKGEGGAGSRGKE
GTHATCASEEGGTESSESGSSLQPLSADSTPDVNQSPRGKRRAKAGSRSRNSTLTSLCVL
SHYPFFSTFRECLYTLKRLVDCCSERLLGKKLGIPRGVQRDTMWRIFTGSLLVEEKSSAL
LHDLREIEAWIYRLLRSPVPVSGQKRVDIEVLPQELQPALTFALPDPSRFTLVDFPLHLP
LELLGVDACLQVLTCILLEHKVVLQSRDYNALSMSVMAFVAMIYPLEYMFPVIPLLPTCM
ASAEQLLLAPTPYIIGVPASFFLYKLDFKMPDDVWLVDLDSNRVIAPTNAEVLPILPEPE
SLELKKHLKQALASMSLNTQPILNLEKFHEGQEIPLLLGRPSNDLQSTPSTEFNPLIYGN
DVDSVDVATRVAMVRFFNSANVLQGFQMHTRTLRLFPRPVVAFQAGSFLASRPRQTPFAE
KLARTQAVEYFGEWILNPTNYAFQRIHNNMFDPALIGDKPKWYAHQLQPIHYRVYDSNSQ
LAEALSVPPERDSDSEPTDDSGSDSMDYDDSSSSYSSLGDFVSEMMKCDINGDTPNVDPL
THAALGDASEVEIDELQNQKEAEEPGPDSENSQENPPLRSSSSTTASSSPSTVIHGANSE
PADSTEMDDKAAVGVSKPLPSVPPSIGKSNVDRRQAEIGEGSVRRRIYDNPYFEPQYGFP
PEEDEDEQGESYTPRFSQHVSGNRAQKLLRPNSLRLASDSDAESDSRASSPNSTVSNTST
EGFGGIMSFASSLYRNHSTSFSLSNLTLPTKGAREKATPFPSLKVFGLNTLMEIVTEAGP
GSGEGNRRALVDQKSSVIKHSPTVKREPPSPQGRSSNSSENQQFLKEVVHSVLDGQGVGW
LNMKKVRRLLESEQLRVFVLSKLNRMVQSEDDARQDIIPDVEISRKVYKGMLDLLKCTVL
SLEQSYAHAGLGGMASIFGLLEIAQTHYYSKEPDKRKRSPTESVNTPVGKDPGLAGRGDP
KAMAQLRVPQLGPRAPSATGKGPKELDTRSLKEENFIASIELWNKHQEVKKQKALEKQRP
EVIKPVFDLGETEEKKSQISADSGVSLTSSSQRTDQDSVIGVSPAVMIRSSSQDSEVSTV
VSNSSGETLGADSDLSSNAGDGPGGEGSVHLASSRGTLSDSEIETNSATSTIFGKAHSLK
PSIKEKLAGSPIRTSEDVSQRVYLYEGLLGRDKGSMWDQLEDAAMETFSISKERSTLWDQ
MQFWEDAFLDAVMLEREGMGMDQGPQEMIDRYLSLGEHDRKRLEDDEDRLLATLLHNLIS
YMLLMKVNKNDIRKKVRRLMGKSHIGLVYSQQINEVLDQLANLNGRDLSIWSSGSRHMKK
QTFVVHAGTDTNGDIFFMEVCDDCVVLRSNIGTVYERWWYEKLINMTYCPKTKVLCLWRR
NGSETQLNKFYTKKCRELYYCVKDSMERAAARQQSIKPGPELGGEFPVQDLKTGEGGLLQ
VTLEGINLKFMHNQVFIELNHIKKCNTVRGVFVLEEFVPEIKEVVSHKYKTPMAHEICYS
VLCLFSYVAAVHSSEEDLRTPPRPVSS
NT seq
4944 nt
NT seq
+upstream
nt +downstream
nt
atggtgcaaaagaagaagttctgtcctcggttacttgactatctagtgatcgtaggggcc
aggcacccgagcagtgatagcgtggcccagactcctgaattgctacggcgataccccttg
gaggatcacactgagtttcccctgcccccagatgtagtgttcttctgccagcccgagggc
tgcctgagcgtgcggcagcggcgcatgagccttcgggatgatacctcttttgtcttcacc
ctcactgacaaggacactggagtcacgcgatatggcatctgtgttaacttctaccgctcc
ttccaaaagcgaatctctaaggagaagggggaaggtggggcagggtcccgtgggaaggaa
ggaacccatgccacctgtgcctcagaagagggtggcactgagagctcagagagtggctca
tccctgcagcctctcagtgctgactctacccctgatgtgaaccagtctcctcggggcaaa
cgccgggccaaggcggggagccgctcccgcaacagtactctcacgtccctgtgcgtgctc
agccactaccctttcttctccaccttccgagagtgtttgtatactctcaagcgcctggtg
gactgctgtagtgagcgccttctgggcaagaaactgggcatccctcgaggcgtacaaagg
gacaccatgtggcggatctttactggatcgctgctggtagaggagaagtcaagtgccctt
ctgcatgaccttcgagagattgaggcctggatctatcgattgctgcgctccccagtaccc
gtctctgggcagaagcgagtagacatcgaggtcctaccccaagagctccagccagctctg
acctttgctcttccagacccatctcgattcaccctagtggatttcccactgcaccttccc
ttggaacttctaggtgtggacgcctgtctccaggtgctaacctgcattctgttagagcac
aaggtggtgctacagtcccgagactacaatgcactctccatgtctgtgatggcattcgtg
gcaatgatctacccactggagtatatgtttcctgtcatcccgctgctacccacctgcatg
gcatcagcagagcagctgctgttggctccaaccccgtacatcattggggttcctgccagc
ttcttcctctacaaactggacttcaaaatgcctgatgatgtatggctagtggatctggac
agcaatagggtgattgcccccaccaatgcagaagtgctgcctatcctgccagaaccagaa
tcactagagctgaaaaagcatttaaagcaggccttggccagcatgagtctcaacacccag
cccatcctcaatctggagaaatttcatgagggccaggagatcccccttctcttgggaagg
ccttctaatgacctgcagtccacaccgtccactgaattcaacccactcatctatggcaat
gatgtggattctgtggatgttgcaaccagggttgccatggtacggttcttcaattccgcc
aacgtgctgcagggatttcagatgcacacgcgtaccctgcgcctctttcctcggcctgtg
gtagcttttcaagctggctcctttctagcctcacgtccccggcagactccttttgccgag
aaattggccaggactcaggctgtggagtactttggggaatggatccttaaccccaccaac
tatgcctttcagcgaattcacaacaatatgtttgatccagccctgattggtgacaagcca
aagtggtatgctcatcagctgcagcctatccactatcgcgtctatgacagcaattcccag
ctggctgaggccctgagtgtaccaccagagcgggactctgactccgaacctactgatgat
agtggcagtgatagtatggattatgacgattcaagctcttcttactcctcccttggtgac
tttgtcagtgaaatgatgaaatgtgacattaatggtgatactcccaatgtggaccctctg
acacatgcagcactgggggatgccagcgaggtggagattgacgagctgcagaatcagaag
gaagcagaagagcctggcccagacagtgagaactctcaggaaaaccccccactgcgctcc
agctctagcaccacagccagcagcagccccagcactgtcatccacggagccaactctgaa
cctgctgactctacggagatggatgataaggcagcagtaggcgtctccaagcccctccct
tccgtgcctcccagcattggcaaatcgaacgtggacagacgtcaggcagaaattggagag
gggtcagtgcgccggcgaatctatgacaatccatacttcgagccccaatatggctttccc
cctgaggaagatgaggatgagcagggggaaagttacactccccgattcagccaacatgtc
agtggcaatcgggctcaaaagctgctgcggcccaacagcttgagactggcaagtgactca
gatgcagagtcagactctcgggcaagctctcccaactccaccgtctccaacaccagcacc
gagggcttcgggggcatcatgtcttttgccagcagcctctatcggaaccacagtaccagc
ttcagtctttcaaacctcacactgcccaccaaaggtgcccgagagaaggccacgcccttc
cccagtctgaaagtatttgggctaaatactctaatggagattgttactgaagccggcccc
gggagtggtgaaggaaacaggagggcgttagtggatcagaagtcatctgtcattaaacac
agcccaacagtgaaaagagaacctccatcaccccagggtcgatccagcaattctagtgag
aaccagcagttcctgaaggaggtggtgcacagcgtgctggacggccagggagttggctgg
ctcaacatgaaaaaggtgcgccggctgctggagagcgagcagctgcgagtctttgtcctg
agcaagctgaaccgcatggtgcagtcagaggacgatgcccggcaggacatcatcccggat
gtggagatcagtcggaaggtgtacaagggaatgttagacctcctcaagtgtacagtcctc
agcttggagcagtcctatgcccacgcgggtctgggtggcatggccagcatctttgggctt
ttggagattgcccagacccactactatagtaaagaaccagacaagcggaagagaagtcca
acagaaagtgtaaataccccagttggcaaggatcctggcctagctgggcggggggaccca
aaggctatggcacaactgagagttccacaactgggacctcgggcaccaagtgccacagga
aagggtcctaaggaactggacaccagaagtttaaaggaagaaaattttatagcatctatt
gaattgtggaacaagcaccaggaagtgaaaaagcaaaaagctttggaaaaacagaggcct
gaagtaatcaaacctgtctttgaccttggtgagacagaggagaaaaagtcccagatcagc
gcagacagtggtgtgagcctgacgtctagttcccagaggactgatcaagactctgtcatc
ggcgtgagtccagctgttatgatccgcagctcaagtcaggattctgaagttagcaccgtg
gtgagtaatagctctggagagacccttggagctgacagtgacttgagcagcaatgcaggt
gatggaccaggtggcgagggcagtgttcacctggcaagctctcggggcactttgtctgat
agtgaaattgagaccaactctgccacaagcaccatctttggtaaagcccacagcttgaag
ccaagcataaaggagaagctggcaggcagccccattcgtacttctgaagatgtgagccag
cgagtctatctctatgagggactcctaggaagggacaaaggatccatgtgggaccagtta
gaggatgcagctatggagaccttttctataagcaaagagcgttctactttatgggaccaa
atgcaattctgggaagatgccttcttagatgctgtgatgttggagagagaagggatgggt
atggaccagggtccccaggaaatgatcgacaggtacctgtcccttggagaacatgaccgg
aagcgcctggaagatgatgaagatcgcttgttggccacacttctgcacaacctcatctcc
tacatgctgctgatgaaggtaaataagaatgacatccgcaagaaggtgaggcgcctaatg
ggaaagtcgcacattgggcttgtgtacagccagcaaatcaatgaggtgcttgatcagctg
gcgaacctgaatggacgcgatctctctatctggtccagtggcagccggcacatgaagaag
cagacatttgtggtacatgcagggacagatacaaacggagatatctttttcatggaggtg
tgcgatgactgtgtggtgttgcgtagtaacatcggaacagtgtatgagcgctggtggtac
gagaagctcatcaacatgacctactgtcccaagacgaaggtgttgtgcttgtggcgtaga
aatggctctgagacccagctcaacaagttctatactaaaaagtgtcgggagctgtactac
tgtgtgaaggacagcatggagcgcgctgccgcccgacagcaaagcatcaaacccggacct
gaattgggtggcgagttccctgtgcaggacctgaagactggtgagggtggcctgctgcag
gtgaccctggaagggatcaacctcaaattcatgcacaatcaggttttcatagagctgaat
cacattaaaaagtgcaatacagttcgaggcgtctttgtcctggaggaatttgttcctgaa
attaaagaagtggtgagccacaagtacaagacaccaatggcccacgaaatctgctactcc
gtattatgtctcttctcgtacgtggctgcagttcatagcagtgaggaagatctcagaacc
ccgccccggcctgtctctagctga
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integrated database retrieval system
