Homo sapiens (human): 23025
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Entry
23025 CDS
T01001
Symbol
UNC13A, Munc13-1
Name
(RefSeq) protein unc-13 homolog A isoform 1
KO
K15293
protein unc-13 A/B/C
Organism
hsa
Homo sapiens (human)
Pathway
hsa04721
Synaptic vesicle cycle
Network
nt06541
Cytoskeleton in neurons
Element
N01856
Cytomatrix at the active zone (CAZ) protein complex
Disease
H03026
Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
H03027
Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
H03028
Intellectual development disorder with seizures and dysmorphic facies
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09150 Organismal Systems
09156 Nervous system
04721 Synaptic vesicle cycle
23025 (UNC13A)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
23025 (UNC13A)
Membrane trafficking [BR:
hsa04131
]
SNARE
SNARE associated proteins
Syntaxin-binding proteins
23025 (UNC13A)
SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
MUN
C2
C1_1
COG2_C
Exo70_C
APG6_N
Motif
Other DBs
NCBI-GeneID:
23025
NCBI-ProteinID:
NP_001073890
OMIM:
609894
HGNC:
23150
Ensembl:
ENSP00000429562.2
UniProt:
Q9UPW8
LinkDB
All DBs
Position
19:complement(17601336..17688354)
Genome browser
AA seq
1703 aa
AA seq
DB search
MSLLCVGVKKAKFDGAQEKFNTYVTLKVQNVKSTTIAVRGSQPSWEQDFMFEINRLDLGL
TVEVWNKGLIWDTMVGTVWIPLRTIRQSNEEGPGEWLTLDSQVIMADSEICGTKDPTFHR
ILLDTRFELPLDIPEEEARYWAKKLEQLNAMRDQDEYSFQDEQDKPLPVPSNQCCNWNYF
GWGEQHNDDPDSAVDDRDSDYRSETSNSIPPPYYTTSQPNASVHQYSVRPPPLGSRESYS
DSMHSYEEFSEPQALSPTGSSRYASSGELSQGSSQLSEDFDPDEHSLQGSDMEDERDRDS
YHSCHSSVSYHKDSPRWDQDEEELEEDLEDFLEEEELPEDEEELEEEEEEVPDDLGSYAQ
REDVAVAEPKDFKRISLPPAAPGKEDKAPVAPTEAPDMAKVAPKPATPDKVPAAEQIPEA
EPPKDEESFRPREDEEGQEGQDSMSRAKANWLRAFNKVRMQLQEARGEGEMSKSLWFKGG
PGGGLIIIDSMPDIRKRKPIPLVSDLAMSLVQSRKAGITSALASSTLNNEELKNHVYKKT
LQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCTECGVKCHEKCQDLLN
ADCLQRAAEKSSKHGAEDRTQNIIMVLKDRMKIRERNKPEIFELIQEIFAVTKTAHTQQM
KAVKQSVLDGTSKWSAKISITVVCAQGLQAKDKTGSSDPYVTVQVGKTKKRTKTIYGNLN
PVWEENFHFECHNSSDRIKVRVWDEDDDIKSRVKQRFKRESDDFLGQTIIEVRTLSGEMD
VWYNLDKRTDKSAVSGAIRLHISVEIKGEEKVAPYHVQYTCLHENLFHFVTDVQNNGVVK
IPDAKGDDAWKVYYDETAQEIVDEFAMRYGVESIYQAMTHFACLSSKYMCPGVPAVMSTL
LANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSMYRNNFPASSP
ERLQDLKSTVDLLTSITFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHELYS
REYQTDPAKKGEVLPEEQGPSIKNLDFWSKLITLIVSIIEEDKNSYTPCLNQFPQELNVG
KISAEVMWNLFAQDMKYAMEEHDKHRLCKSADYMNLHFKVKWLYNEYVTELPAFKDRVPE
YPAWFEPFVIQWLDENEEVSRDFLHGALERDKKDGFQQTSEHALFSCSVVDVFSQLNQSF
EIIKKLECPDPQIVGHYMRRFAKTISNVLLQYADIISKDFASYCSKEKEKVPCILMNNTQ
QLRVQLEKMFEAMGGKELDAEASDILKELQVKLNNVLDELSRVFATSFQPHIEECVKQMG
DILSQVKGTGNVPASACSSVAQDADNVLQPIMDLLDSNLTLFAKICEKTVLKRVLKELWK
LVMNTMEKTIVLPPLTDQTMIGNLLRKHGKGLEKGRVKLPSHSDGTQMIFNAAKELGQLS
KLKDHMVREEAKSLTPKQCAVVELALDTIKQYFHAGGVGLKKTFLEKSPDLQSLRYALSL
YTQATDLLIKTFVQTQSAQGLGVEDPVGEVSVHVELFTHPGTGEHKVTVKVVAANDLKWQ
TSGIFRPFIEVNIIGPQLSDKKRKFATKSKNNSWAPKYNESFQFTLSADAGPECYELQVC
VKDYCFAREDRTVGLAVLQLRELAQRGSAACWLPLGRRIHMDDTGLTVLRILSQRSNDEV
AKEFVKLKSDTRSAEEGGAAPAP
NT seq
5112 nt
NT seq
+upstream
nt +downstream
nt
atgtctctgctttgcgttggagtcaaaaaagccaagtttgatggtgcccaagagaaattc
aacacgtacgtgaccctgaaagtgcagaatgtcaagagcacgaccatcgcggtgcggggc
agccagcccagctgggagcaggatttcatgttcgagattaaccgtctggatttgggactg
acggtggaggtgtggaataagggtctcatctgggacacaatggtgggcactgtgtggatc
ccactgaggaccatccgccagtccaatgaggagggccctggagagtggctgacgctggac
tcccaggtcatcatggcagacagtgagatctgtggcaccaaggaccccaccttccaccgc
atcctcctggacacgcgctttgagctacccttagacattcctgaagaggaggctcgctac
tgggccaagaagctggagcagctcaatgctatgcgggaccaggatgaatattcgttccaa
gatgagcaagacaagcctctgcctgtccccagcaaccagtgctgcaactggaattatttt
ggctggggtgagcagcacaacgatgaccccgacagtgcagtggatgatcgtgacagtgac
taccgcagtgaaacgagcaacagcatcccgccgccctattatactacgtcacaacccaac
gcctcagtccaccaatattctgttcgcccaccacccctgggctcccgggagtcctacagt
gactccatgcacagttacgaggagttctctgagccacaagccctcagccccacgggtagc
agccgctatgcctcttccggggagctgagccagggaagctctcagctgagcgaggacttc
gaccctgacgagcacagcctgcagggctccgacatggaggatgagcgggaccgggactcc
taccactcctgccacagctcggtcagctaccacaaagactcgcctcgctgggaccaggat
gaggaagagctggaggaggacctggaggacttcctggaggaggaggagctgcctgaagat
gaggaggagctggaggaggaggaggaggaggtgcctgacgatttgggcagctatgcccag
cgtgaagacgtagctgtggctgagcccaaagacttcaaacgcatcagcctcccgccagct
gccccagggaaggaggacaaggccccagtggcacccaccgaggcccccgacatggccaag
gtggcccccaagccagccacgcccgacaaggtgcctgcagctgagcagatccctgaggct
gagccacccaaggacgaggagagtttcaggccgagagaggatgaggaaggccaggagggg
caggactccatgtccagggccaaggccaactggctgcgtgccttcaacaaggtgcggatg
cagctgcaggaggcccggggagaaggagagatgtctaaatccctatggttcaaaggcggc
ccagggggcggtctcatcatcatcgacagcatgccagacatccgcaagaggaaacctatc
ccactcgtgagcgacttggccatgtccctggtccagtccaggaaagcgggcatcacctcg
gccttggcctccagcacgttgaacaacgaggagctgaaaaaccacgtttacaagaagacc
ctgcaagccttaatctaccccatctcgtgcacgacgccacacaacttcgaagtgtggacg
gccaccacgcccacctactgctacgagtgcgaggggctgctgtggggcatcgcgaggcag
ggcatgcgctgcaccgagtgcggtgtcaagtgccacgagaagtgccaggacctgctcaac
gccgactgcctgcagcgggctgcggagaagagctccaagcacggggcggaggaccggaca
cagaacatcatcatggtgctcaaggaccgcatgaagatccgggagcgcaacaagcccgag
atcttcgagctcatccaggagatcttcgcggtgaccaagacggcgcacacgcagcagatg
aaggcggtcaagcagagcgtgctggacggcacgtccaagtggtccgccaagatcagcatc
accgtggtctgcgcccagggcttgcaggcaaaggacaagacaggatccagtgacccctat
gtcaccgtccaggtcgggaagaccaagaaacggacaaaaaccatctatgggaacctcaac
ccggtgtgggaggagaatttccactttgaatgtcacaattcctccgaccgcatcaaggtg
cgcgtctgggacgaggatgacgacatcaaatcccgcgtgaaacagaggttcaagagggaa
tctgacgatttcctggggcagacgatcattgaggtgcggacgctcagcggcgagatggac
gtgtggtacaacctggacaagcgaactgacaaatctgccgtgtcgggtgccatccggctc
cacatcagtgtggagatcaaaggcgaggagaaggtggccccgtaccatgtccagtacacc
tgtctgcatgagaacctgttccacttcgtgaccgacgtgcagaacaatggggtcgtgaag
atcccagatgccaagggtgacgatgcctggaaggtttactacgatgagacagcccaggag
attgtggacgagtttgccatgcgctacggcgtcgagtccatctaccaagccatgacccac
tttgcctgcctctcctccaagtatatgtgcccaggggtgcctgccgtcatgagcaccctg
ctcgccaacatcaatgcctactacgcacacaccaccgcctccaccaacgtgtctgcctcc
gaccgcttcgccgcctccaactttgggaaagagcgcttcgtgaaactcctggaccagctg
cataactccctgcggattgacctctccatgtaccggaataacttcccagccagcagcccg
gagagactccaggacctcaaatccactgtggaccttctcaccagcatcaccttctttcgg
atgaaggtacaagaactccagagcccgccccgagccagccaggtggtaaaggactgtgtg
aaagcctgccttaattctacctacgagtacatcttcaataactgccatgaactgtacagc
cgggagtaccagacagacccggccaagaagggggaagttctcccagaggaacaggggccc
agcatcaagaacctcgacttctggtccaagctgattaccctcatagtgtccatcattgag
gaagacaagaattcctacactccctgcctcaaccagtttccccaggagctgaatgtgggt
aaaatcagcgctgaagtgatgtggaatctgtttgcccaagacatgaagtacgccatggag
gagcacgacaagcatcgtctatgcaagagtgccgactacatgaacctccacttcaaggtg
aaatggctctacaatgagtatgtgacggaacttcccgccttcaaggaccgcgtgcctgag
taccctgcatggtttgaacccttcgtcatccagtggctggatgagaatgaggaggtgtcc
cgggatttcctgcacggtgccctggagcgagacaagaaggatgggttccagcagacctca
gagcatgccctattctcctgctccgtggtggatgttttctcccaactcaaccagagcttt
gaaatcatcaagaaactcgagtgtcccgaccctcagatcgtggggcactacatgaggcgc
tttgccaagaccatcagtaatgtgctcctccagtatgcagacatcatctccaaggacttt
gcctcctactgctccaaggagaaggagaaagtgccctgcattctcatgaataacactcaa
cagctacgagttcagctggagaagatgttcgaagccatgggaggaaaggagctggatgct
gaagccagtgacatcctgaaggagcttcaggtgaaactcaataacgtcttggatgagctc
agccgggtgtttgctaccagcttccagccgcacattgaagagtgtgtcaaacagatgggt
gacatccttagccaggttaagggcacaggcaatgtgccagccagtgcctgcagcagcgtg
gcccaggacgcggacaatgtgttgcagcccatcatggacctgctggacagcaacctgacc
ctctttgccaaaatctgtgagaagactgtgctgaagcgagtgctgaaggagctgtggaag
ctggttatgaacaccatggagaaaaccatcgtcctgccgcccctcactgaccagacgatg
atcgggaacctcttgagaaaacatggcaagggattagaaaagggcagggtgaaattgcca
agccactcagacggaacccagatgatcttcaatgcagccaaggagctgggtcagctgtcc
aaactcaaggatcacatggtacgagaagaagccaagagcttgaccccaaagcagtgcgcg
gttgttgagttggccctggacaccatcaagcaatatttccacgcgggtggcgtgggcctc
aagaagaccttcctggagaagagcccggacctgcaatccttgcgctatgccctgtcgctc
tacacgcaggccaccgacctgctaatcaagacctttgtacagacgcaatcggcccagggc
ttgggtgtagaagaccctgtgggtgaagtctctgtccatgttgagctgttcactcatcca
ggaactggggaacacaaggtcacagtgaaagtggtggctgccaatgacctcaagtggcag
acttctggcatcttccggccgttcatcgaggtcaacatcattgggccccagctcagcgac
aagaaacgcaagtttgcgaccaaatccaagaacaatagctgggctcccaagtacaatgag
agcttccagttcacgctgagcgccgacgcgggtcccgagtgctatgagctgcaggtgtgc
gtcaaggactactgcttcgcgcgcgaggaccgcacggtggggctggccgtgctgcagctg
cgtgagctggcccagcgcgggagcgccgcctgctggctgccgctcggccgccgcatccac
atggacgacacgggcctcacggtgctgcgaatcctctcgcagcgcagcaacgacgaggtg
gccaaggagttcgtgaagctcaagtcggacacgcgctccgccgaggagggcggtgccgcg
cctgcgccttag
DBGET
integrated database retrieval system
