KEGG   Homo sapiens (human): 89Help
Entry
89                CDS       T01001                                 

Gene name
ACTN3
Definition
(RefSeq) actinin alpha 3 (gene/pseudogene)
  KO
K21073  
actinin alpha 2/3
Organism
hsa  Homo sapiens (human)
Pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  Cardiovascular diseases
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    89 (ACTN3)
Membrane trafficking [BR:hsa04131]
 Exocytosis
  Small GTPases and associated proteins
   Rab associated proteins
    89 (ACTN3)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     89 (ACTN3)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   89 (ACTN3)
  Exosomal proteins of colorectal cancer cells
   89 (ACTN3)
  Exosomal proteins of bladder cancer cells
   89 (ACTN3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
Q08043(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
11q13.2
AA seq 901 aa AA seqDB search
MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLR
KAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVK
LVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNV
QNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAED
IVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASEL
LEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLR
LSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH
EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDY
HEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLD
GAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRP
CSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWI
QAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHT
VYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMM
EPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA
SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESD
L
NT seq 2706 nt NT seq  +upstreamnt  +downstreamnt
atgatgatggttatgcagcccgagggtctgggggccggggaggggcgctttgcgggcggc
ggcgggggcggcgagtacatggaacaggaggaggactgggaccgcgacctgctgctggac
ccggcctgggagaagcagcagcggaaaaccttcactgcctggtgcaactcacacctgcgc
aaggcaggcacccagatcgagaacatcgaggaagatttccgcaatggcctcaaactcatg
ctgctcctggaggtcatttcaggtgagaggctgcctaggccagataaaggcaagatgcgc
ttccacaaaatcgccaacgttaacaaggccctggacttcattgccagcaagggggttaaa
ctggtgtccattggtgctgaagagattgttgacgggaacctgaagatgaccctgggcatg
atctggaccatcatccttcgcttcgccatccaggacatctctgtggaagaaacctcagcc
aaggaaggcttgcttctgtggtgccagaggaagacagcaccgtaccgcaacgtcaacgtg
cagaacttccacaccagctggaaggatggcctggccctctgtgccctcatccaccgacac
cgccctgacctcatcgactacgccaaactgcgaaaggatgaccccatcggaaacctgaac
actgcctttgaggtggcagagaaatacctggacatccccaagatgttggatgcagaagac
attgtgaacaccccaaagccggatgagaaggccatcatgacctatgtgtcctgcttctac
catgcctttgccggggctgagcaggcagagacagctgccaacaggatctgcaaggtgctg
gcagtgaaccaggaaaacgagaagctgatggaggagtatgagaagcttgccagtgagctg
ctggagtggatccgccgcactgtcccatggctggagaaccgtgtgggtgagcccagcatg
agtgccatgcagcgcaaactagaggactttcgggactaccggcgtctgcacaagccgccc
cgcattcaggaaaagtgccagctggagatcaacttcaacacactgcagaccaagttgcgg
ctcagccaccggcctgccttcatgccctccgagggcaagctggtctcggacatcgccaac
gcctggcgggggctggagcaggtggaaaagggctatgaggactggctgctctcggagatc
cggcgcctgcagcgactccagcacctggctgagaagttccggcagaaggcctccctgcac
gaagcctggacccggggaaaggaggagatgctgagccagcgcgactacgattcggctttg
ctacaggaggtgcgggcgttgctgcggcgccacgaggcctttgagagcgacctggcggcg
caccaggaccgcgtggagcacattgccgcgctggcccaggagctcaatgagctggactac
cacgaggcagcctcagtgaatagccgctgccaggccatctgcgatcagtgggacaacctg
ggcaccctgacccagaagaggcgggatgcgctagagcggatggagaagctcctggagacc
attgaccggctgcaactggagtttgcccggcgggccgcgcccttcaacaactggctggat
ggtgccgtggaggacctgcaggacgtgtggctggtacactctgtggaggagacccagagc
ctgctgacagcgcacgatcagttcaaggcaacactgcccgaggctgaccgagagcgaggt
gccatcatgggcatccagggtgagatccagaagatctgccagacgtatgggctgcggccc
tgctccaccaatccctacatcaccctcagcccgcaggacatcaacaccaagtgggatatg
gtccgaaagctggtgcccagctgtgaccagacactgcaggaggagctggcacggcagcag
gtaaacgagaggctccggcgacagtttgcggcccaggccaatgccattggaccctggatc
caggcgaaggtggaggaagtggggcggctggcagcagggctagctggctctctggaggag
cagatggctgggctacggcagcaggagcagaacattatcaactacaagactaacattgac
cggctggagggtgaccaccagctgctgcaggagagcctggtgttcgacaataagcacacc
gtctacagcatggagcacatccgcgtgggctgggagcagctgctcacctccattgcccgc
accatcaatgaagtggagaaccaggtactgacccgagacgccaagggactgagccaggag
cagctcaacgagttccgagcatccttcaaccactttgacaggaagcagaatgggatgatg
gagcctgatgacttccgagcttgcctcatctccatgggctatgacctgggggaagtggag
tttgctcgcatcatgaccatggtggaccccaacgcagctggggtggtgaccttccaggcc
ttcatagacttcatgacccgagagacagccgagactgacacgactgagcaagttgtagct
tccttcaagatcttggcaggagacaagaactacatcacccccgaggagctgcggcgcgag
ctccctgccaagcaggccgagtactgcatccgccgtatggtgccctacaagggatccggg
gccccggctggagccctggactacgtggccttctccagtgccctctatggggagagcgac
ctttga

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