KEGG   Homo sapiens (human): 79188
Entry
79188             CDS       T01001                                 
Symbol
TMEM43, ARVC5, ARVD5, AUNA3, EDMD7, AUNA2, LUMA
Name
(RefSeq) transmembrane protein 43
  KO
K27488   
Organism
hsa  Homo sapiens (human)
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
H00563  Emery-Dreifuss muscular dystrophy
H02339  Auditory neuropathy
SSDB
Motif
Pfam: TMEM43 UPF0697
Other DBs
NCBI-GeneID: 79188
NCBI-ProteinID: NP_077310
OMIM: 612048
HGNC: 28472
Ensembl: ENSG00000170876
UniProt: Q9BTV4 A0A024R2F9
Position
3:14125052..14143680
AA seq 400 aa
MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKT
ATSLAEGLSLVVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVE
MYQWVETEESREYTEDGQVKKETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMA
TAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFFYHSENPKYPEVGDLR
VSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRE
LRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLT
LLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE
NT seq 1203 nt   +upstreamnt  +downstreamnt
atggccgcgaattattccagtaccagtacccggagagaacatgtcaaagttaaaaccagc
tcccagccaggcttcctggaacggctgagcgagacctcgggtgggatgtttgtggggctc
atggccttcctgctctccttctacctaattttcaccaatgagggccgcgcattgaagacg
gcaacctcattggctgaggggctctcgcttgtggtgtctcccgacagcatccacagtgtg
gctccggagaatgaaggaaggctggtgcacatcattggcgccttacggacatccaagctt
ttgtctgatccaaactatggggtccatcttccggctgtgaaactgcggaggcacgtggag
atgtaccaatgggtagaaactgaggagtccagggagtacaccgaggatgggcaggtgaag
aaggagacgaggtattcctacaacactgaatggaggtcagaaatcatcaacagcaaaaac
ttcgaccgagagattggccacaaaaaccccagtgccatggcagtggagtcattcatggca
acagccccctttgtccaaattggcaggtttttcctctcgtcaggcctcatcgacaaagtc
gacaacttcaagtccctgagcctatccaagctggaggaccctcatgtggacatcattcgc
cgtggagactttttctaccacagcgaaaatcccaagtatccagaggtgggagacttgcgt
gtctccttttcctatgctggactgagcggcgatgaccctgacctgggcccagctcacgtg
gtcactgtgattgcccggcagcggggtgaccagctagtcccattctccaccaagtctggg
gataccttactgctcctgcaccacggggacttctcagcagaggaggtgtttcatagagaa
ctaaggagcaactccatgaagacctggggcctgcgggcagctggctggatggccatgttc
atgggcctcaaccttatgacacggatcctctacaccttggtggactggtttcctgttttc
cgagacctggtcaacattggcctgaaagcctttgccttctgtgtggccacctcgctgacc
ctgctgaccgtggcggctggctggctcttctaccgacccctgtgggccctcctcattgcc
ggcctggcccttgtgcccatccttgttgctcggacacgggtgccagccaaaaagttggag
tga

  All links  
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (42)   
   RefSeq(nuc) (8)   
   GenBank (17)   
   EMBL (17)   
Protein domain (2)   
   Pfam (2)   
All databases (81)   

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