Homo sapiens L. (human) [HSA]

FULL NAME: Ribonuclease H2 subunit C


DESCRIPTION:
Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes.

MISCELLANEOUS:
The T6 pseudogene located upstream of SRY on chromosome Y is derived from the transcript of this gene.


STRUCTURE SIMILARITY:
Belongs to the RNase H2 subunit C family.


SUBUNIT STRUCTURE:
The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C.


RELATED PATHWAY(S):
DNA replication


RELATED DISEASE(S):
Aicardi-Goutieres syndrome type 3 (AGS3)


Amino acids sequence

        10         20         30         40         50         60
MESGDEAAIE RHRVHLRSAT LRDAVPATLH LLPCEVAVDG PAPVGRFFTP AIRQGPEGLE
        70         80         90        100        110        120
VSFRGRCLRG EEVAVPPGLV GYVMVTEEKK VSMGKPDPLR DSGTDDQEEE PLERDFDRFI
       130        140        150        160
GATANFSRFT LWGLETIPGP DAKVRGALTW PSLAAAIHAQ VPED 

Encoded by RNASEH2C gene

FULL NAME: ribonuclease H2, subunit C


OTHER NAME(S):
AGS3
AYP1
FLJ20974
MGC22934


DESCRIPTION:
This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggagagcg gcgacgaagc ggccatcgag aggcaccgcg tccacttgcg ctccgccaca
        70         80         90        100        110        120
ttgcgcgacg ccgtacccgc cacactgcat ctgctgccct gcgaggttgc ggtggacggg
       130        140        150        160        170        180
cccgccccgg tggggcgctt cttcacgccc gccatccgcc agggccccga gggactcgaa
       190        200        210        220        230        240
gtgtcgtttc ggggccgctg tctacgggga gaggaggtgg cggtgccgcc tggcctcgtg
       250        260        270        280        290        300
ggatacgtga tggtgacaga agagaagaag gtgtcgatgg ggaagccaga ccccttgcgg
       310        320        330        340        350        360
gattccggga ctgacgacca agaggaggag ccgctggagc gggacttcga ccgcttcatt
       370        380        390        400        410        420
ggagccactg ccaacttcag ccgcttcacc ctgtggggtc tggagaccat ccctggcccg
       430        440        450        460        470        480
gatgccaaag tgcgtggggc cttaacttgg cccagccttg cggcagcgat tcacgcacag
       490
gtgcccgagg actga    

Last modification date: Oct. 19, 2011