Homo sapiens L. (human) [HSA]

FULL NAME: Actin, cytoplasmic 2


DESCRIPTION:
Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

MISCELLANEOUS:
In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.


STRUCTURE SIMILARITY:
Belongs to the actin family.


POST-TRANSLATIONAL MODIFICATION:
The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity to the mouse ortholog.


RELATED PATHWAY(S):
chromatin remodeling


RELATED DISEASE(S):
deafness autosomal dominant type 20 (DFNA20)


Amino acids sequence

        10         20         30         40         50         60
MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS
        70         80         90        100        110        120
KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT
       130        140        150        160        170        180
QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL
       190        200        210        220        230        240
AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY
       250        260        270        280        290        300
ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS
       310        320        330        340        350        360
GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ
       370
EYDESGPSIV HRKCF    

Encoded by ACTG1 gene

FULL NAME: actin, gamma 1


OTHER NAME(S):
ACT
ACTG
DFNA20
DFNA26


DESCRIPTION:
Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the cytoskeleton. In vertebrates, three main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton, and as mediators of internal cell motility. Actin, gamma 1, encoded by this gene, is a cytoplasmic actin found in non-muscle cells. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]


Nucleic acid sequence

        10         20         30         40         50         60
atggaagaag agatcgccgc gctggtcatt gacaatggct ccggcatgtg caaagctggt
        70         80         90        100        110        120
tttgctgggg acgacgctcc ccgagccgtg tttccttcca tcgtcgggcg ccccagacac
       130        140        150        160        170        180
cagggcgtca tggtgggcat gggccagaag gactcctacg tgggcgacga ggcccagagc
       190        200        210        220        230        240
aagcgtggca tcctgaccct gaagtacccc attgagcatg gcatcgtcac caactgggac
       250        260        270        280        290        300
gacatggaga agatctggca ccacaccttc tacaacgagc tgcgcgtggc cccggaggag
       310        320        330        340        350        360
cacccagtgc tgctgaccga ggcccccctg aaccccaagg ccaacagaga gaagatgact
       370        380        390        400        410        420
cagattatgt ttgagacctt caacaccccg gccatgtacg tggccatcca ggccgtgctg
       430        440        450        460        470        480
tccctctacg cctctgggcg caccactggc attgtcatgg actctggaga cggggtcacc
       490        500        510        520        530        540
cacacggtgc ccatctacga gggctacgcc ctcccccacg ccatcctgcg tctggacctg
       550        560        570        580        590        600
gctggccggg acctgaccga ctacctcatg aagatcctca ctgagcgagg ctacagcttc
       610        620        630        640        650        660
accaccacgg ccgagcggga aatcgtgcgc gacatcaagg agaagctgtg ctacgtcgcc
       670        680        690        700        710        720
ctggacttcg agcaggagat ggccaccgcc gcatcctcct cttctctgga gaagagctac
       730        740        750        760        770        780
gagctgcccg atggccaggt catcaccatt ggcaatgagc ggttccggtg tccggaggcg
       790        800        810        820        830        840
ctgttccagc cttccttcct gggtatggaa tcttgcggca tccacgagac caccttcaac
       850        860        870        880        890        900
tccatcatga agtgtgacgt ggacatccgc aaagacctgt acgccaacac ggtgctgtcg
       910        920        930        940        950        960
ggcggcacca ccatgtaccc gggcattgcc gacaggatgc agaaggagat caccgccctg
       970        980        990       1000       1010       1020
gcgcccagca ccatgaagat caagatcatc gcacccccag agcgcaagta ctcggtgtgg
      1030       1040       1050       1060       1070       1080
atcggtggct ccatcctggc ctcactgtcc accttccagc agatgtggat tagcaagcag
      1090       1100       1110       1120
gagtacgacg agtcgggccc ctccatcgtc caccgcaaat gcttctaa 

Last modification date: Oct. 2, 2011