KEGG   Homo sapiens (human): 89
Entry
89                CDS       T01001                                 
Symbol
ACTN3, ACTN3D
Name
(RefSeq) actinin alpha 3
  KO
K21073  actinin alpha 2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    89 (ACTN3)
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    89 (ACTN3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    89 (ACTN3)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    89 (ACTN3)
   04147 Exosome [BR:hsa04147]
    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)
SSDB
Motif
Pfam: Spectrin CH EFhand_Ca_insen EF-hand_7 EF-hand_1 EF-hand_6 CAMSAP_CH EF-hand_8 AIF-1 PRP9_N
Other DBs
NCBI-GeneID: 89
NCBI-ProteinID: NP_001095
OMIM: 102574
HGNC: 165
Ensembl: ENSG00000248746
UniProt: Q08043 B4DZQ2
Structure
Position
11:66546395..66563334
AA seq 901 aa
MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLR
KAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVK
LVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNV
QNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAED
IVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASEL
LEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLR
LSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH
EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDY
HEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLD
GAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRP
CSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWI
QAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHT
VYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMM
EPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA
SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESD
L
NT seq 2706 nt   +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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (8)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (33)   
   RefSeq(nuc) (3)   
   GenBank (15)   
   EMBL (15)   
3D Structure (3)   
   PDB (3)   
Protein domain (10)   
   Pfam (10)   
All databases (79)   

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