KEGG   Homo sapiens (human): 70Help
Entry
70                CDS       T01001                                 

Gene name
ACTC1, ACTC, ASD5, CMD1R, CMH11, LVNC4
Definition
(RefSeq) actin alpha cardiac muscle 1
  KO
K12314  actin, alpha cardiac muscle
Organism
hsa  Homo sapiens (human)
Pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05414  Dilated cardiomyopathy (DCM)
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00546  Atrial septal defect
H01216  Left ventricular noncompaction
H01219  Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09153 Circulatory system
   04260 Cardiac muscle contraction
    70 (ACTC1)
   04261 Adrenergic signaling in cardiomyocytes
    70 (ACTC1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    70 (ACTC1)
   05414 Dilated cardiomyopathy (DCM)
    70 (ACTC1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    70 (ACTC1)
   04147 Exosome [BR:hsa04147]
    70 (ACTC1)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actins
    Actins
     70 (ACTC1)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of colorectal cancer cells
   70 (ACTC1)
  Exosomal proteins of bladder cancer cells
   70 (ACTC1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Actin
Motif
Other DBs
NCBI-GeneID: 70
NCBI-ProteinID: NP_005150
OMIM: 102540
HGNC: 143
Ensembl: ENSG00000159251
Vega: OTTHUMG00000129675
Pharos: P68032(Tbio)
UniProt: P68032 B3KPP5
Position
15q14
AA seq 377 aa AA seqDB search
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF
NT seq 1134 nt NT seq  +upstreamnt  +downstreamnt
atgtgtgacgacgaggagaccaccgccctggtgtgcgacaacggctctgggctggtgaag
gccggctttgcgggcgatgacgcgccccgcgctgtcttcccgtccatcgtgggccgcccg
cggcaccagggagttatggtgggtatgggtcagaaggactcctacgtaggtgatgaagcc
cagagcaagagaggcatcctgaccctgaagtatcccatcgagcatggtatcatcaccaac
tgggacgacatggagaagatctggcaccacaccttctacaatgagctccgtgtggctccc
gaggagcaccccaccctgctcacagaggccccgctgaaccccaaggccaaccgggagaag
atgactcagatcatgtttgagaccttcaatgtccctgccatgtacgtggccatccaggca
gtgctatccctgtatgcttctggccgtaccacaggcattgttctggactctggggatggt
gtaactcacaatgtccccatctatgagggctacgctttgccccatgccatcatgcgtctg
gatctggctggtcgggacctcactgactacctcatgaagatcctcactgagcgtggctac
tcctttgtcaccactgctgaacgtgaaattgtccgtgacattaaagagaagctgtgctat
gtcgccctggattttgagaatgagatggccacagctgcctcttcctcctccctggagaag
agctatgaactgcctgatggccaagtcatcactattggcaatgagcgcttccgctgtcct
gagacactcttccagccctccttcattggtatggaatctgctggcatccatgaaacaact
tacaatagcatcatgaagtgtgacattgatatccgcaaggacctgtatgccaacaatgtc
ttatctggaggcaccactatgtaccctggtattgctgatcgtatgcagaaggaaatcact
gctctggctcctagcaccatgaagattaagattattgctccccctgagcgtaaatactct
gtctggattgggggctccatcctggcctctctgtccaccttccagcaaatgtggattagc
aagcaagagtacgatgaggcaggcccatccattgtccaccgcaaatgcttctaa

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (9)   
   KEGG DISEASE (5)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (84)   
   KEGG ORTHOLOGY (1)   
   RefGene (75)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (19)   
   RefSeq(nuc) (1)   
   GenBank (9)   
   EMBL (9)   
Protein domain (1)   
   Pfam (1)   
All databases (125)   

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