Homo sapiens (human): 79188
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Entry
79188 CDS
T01001
Symbol
TMEM43, ARVC5, ARVD5, AUNA3, EDMD7, AUNA2, LUMA
Name
(RefSeq) transmembrane protein 43
KO
K27488
transmembrane protein 43
Organism
hsa
Homo sapiens (human)
Pathway
hsa04820
Cytoskeleton in muscle cells
Network
nt06539
Cytoskeleton in muscle cells
Element
N01822
Linker of nucleoskeleton and cytoskeleton (LINC) complex
Disease
H00293
Arrhythmogenic right ventricular cardiomyopathy
H00563
Emery-Dreifuss muscular dystrophy
H02339
Auditory neuropathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
79188 (TMEM43)
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Gene cluster
GFIT
Motif
Pfam:
TMEM43
UPF0697
Motif
Other DBs
NCBI-GeneID:
79188
NCBI-ProteinID:
NP_077310
OMIM:
612048
HGNC:
28472
Ensembl:
ENSG00000170876
UniProt:
Q9BTV4
A0A024R2F9
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All DBs
Position
3:14125052..14143680
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AA seq
400 aa
AA seq
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MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKT
ATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVE
MYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMA
TAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLR
VSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRE
LRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLT
LLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE
NT seq
1203 nt
NT seq
+upstream
nt +downstream
nt
atggccgcgaattattccagtaccagtacccggagagaacatgtcaaagttaaaaccagc
tcccagccaggcttcctggaacggctgagcgagacctcgggtgggatgtttgtggggctc
atggccttcctgctctccttctacctaattttcaccaatgagggccgcgcattgaagacg
gcaacctcattggctgaggggctctcgcttgtggtgtctcccgacagcatccacagtgtg
gctccggagaatgaaggaaggctggtgcacatcattggcgccttacggacatccaagctt
ttgtctgatccaaactatggggtccatcttccggctgtgaaactgcggaggcacgtggag
atgtaccaatgggtagaaactgaggagtccagggagtacaccgaggatgggcaggtgaag
aaggagacgaggtattcctacaacactgaatggaggtcagaaatcatcaacagcaaaaac
ttcgaccgagagattggccacaaaaaccccagtgccatggcagtggagtcattcatggca
acagccccctttgtccaaattggcaggtttttcctctcgtcaggcctcatcgacaaagtc
gacaacttcaagtccctgagcctatccaagctggaggaccctcatgtggacatcattcgc
cgtggagactttttctaccacagcgaaaatcccaagtatccagaggtgggagacttgcgt
gtctccttttcctatgctggactgagcggcgatgaccctgacctgggcccagctcacgtg
gtcactgtgattgcccggcagcggggtgaccagctagtcccattctccaccaagtctggg
gataccttactgctcctgcaccacggggacttctcagcagaggaggtgtttcatagagaa
ctaaggagcaactccatgaagacctggggcctgcgggcagctggctggatggccatgttc
atgggcctcaaccttatgacacggatcctctacaccttggtggactggtttcctgttttc
cgagacctggtcaacattggcctgaaagcctttgccttctgtgtggccacctcgctgacc
ctgctgaccgtggcggctggctggctcttctaccgacccctgtgggccctcctcattgcc
ggcctggcccttgtgcccatccttgttgctcggacacgggtgccagccaaaaagttggag
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