Homo sapiens L. (human) [HSA]

FULL NAME: H/ACA ribonucleoprotein complex subunit 4


DESCRIPTION:
Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.

STRUCTURE SIMILARITY:
Belongs to the pseudouridine synthase TruB family.
Contains 1 PUA domain.


CATALYTIC ACTIVITY:
RNA uridine = RNA pseudouridine.


RELATED DISEASE(S):
aplastic anemia (AA)
dyskeratosis congenita autosomal dominant (ADDKC)
susceptibility to pulmonary fibrosis idiopathic (IPF)


Amino acids sequence

        10         20         30         40         50         60
MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS QWPLLLKNFD
        70         80         90        100        110        120
KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP SSHEVVAWIR RILRVEKTGH
       130        140        150        160        170        180
SGTLDPKVTG CLIVCIERAT RLVKSQQSAG KEYVGIVRLH NAIEGGTQLS RALETLTGAL
       190        200        210        220        230        240
FQRPPLIAAV KRQLRVRTIY ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG
       250        260        270        280        290        300
GQMQELRRVR SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV
       310        320        330        340        350        360
MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM TTAVISTCDH
       370        380        390        400        410        420
GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK HGKPTDSTPA TWKQEYVDYS
       430        440        450        460        470        480
ESAKKEVVAE VVKAPQVVAE AAKTAKRKRE SESESDETPP AAPQLIKKEK KKSKKDKKAK
       490        500        510
AGLESGAEPG DGDSDTTKKK KKKKKAKEVE LVSE  

Encoded by DKC1 gene

FULL NAME: dyskeratosis congenita 1, dyskerin


OTHER NAME(S):
CBF5
DKC
FLJ97620
NAP57
NOLA4
XAP101


DESCRIPTION:
This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atggcggatg cggaagtaat tattttgcca aagaaacata agaagaaaaa ggagcggaag
        70         80         90        100        110        120
tcattgccag aagaagatgt agccgaaata caacacgctg aagaatttct tatcaaacct
       130        140        150        160        170        180
gaatccaaag ttgctaagtt ggacacgtct cagtggcccc ttttgctaaa gaattttgat
       190        200        210        220        230        240
aagctgaatg taaggacaac acactataca cctcttgcat gtggttcaaa tcctctgaag
       250        260        270        280        290        300
agagagattg gggactatat caggacaggt ttcattaatc ttgacaagcc ctctaacccc
       310        320        330        340        350        360
tcttcccatg aggtggtagc ctggattcga cggatacttc gggtggagaa gacagggcac
       370        380        390        400        410        420
agtggtactc tggatcccaa ggtgactggt tgtttaatcg tgtgcataga acgagccact
       430        440        450        460        470        480
cgcttggtga agtcacaaca gagtgcaggc aaagagtatg tggggattgt ccggctgcac
       490        500        510        520        530        540
aatgctattg aaggggggac ccagctttct agggccctag aaactctgac aggtgcctta
       550        560        570        580        590        600
ttccagcgac ccccacttat tgctgcagta aagaggcagc tccgagtgag gaccatctac
       610        620        630        640        650        660
gagagcaaaa tgattgaata cgatcctgaa agaagattag gaatcttttg ggtgagttgt
       670        680        690        700        710        720
gaggctggca cctacattcg gacattatgt gtgcaccttg gtttgttatt gggagttggt
       730        740        750        760        770        780
ggtcagatgc aggagcttcg gagggttcgt tctggagtca tgagtgaaaa ggaccacatg
       790        800        810        820        830        840
gtgacaatgc atgatgtgct tgatgctcag tggctgtatg ataaccacaa ggatgagagt
       850        860        870        880        890        900
tacctgcggc gagttgttta ccctttggaa aagctgttga catctcataa acggctggtt
       910        920        930        940        950        960
atgaaagaca gtgcagtaaa tgccatctgc tatggggcca agattatgct tccaggtgtt
       970        980        990       1000       1010       1020
cttcgatatg aggacggcat tgaggtcaat caggagattg tggttatcac caccaaagga
      1030       1040       1050       1060       1070       1080
gaagcaatct gcatggctat tgcattaatg accacagcgg tcatctctac ctgcgaccat
      1090       1100       1110       1120       1130       1140
ggtatagtag ccaagatcaa gagagtgatc atggagagag acacttaccc tcggaagtgg
      1150       1160       1170       1180       1190       1200
ggtttaggtc caaaggcaag tcagaagaag ctgatgatca agcagggcct tctggacaag
      1210       1220       1230       1240       1250       1260
catgggaagc ccacagacag cacacctgcc acctggaagc aggatgagtc tgccaaaaaa
      1270       1280       1290       1300       1310       1320
gaggtggttg ctgaagtggt aaaagccccg caggtagttg ccgaagcagc aaaaactgcg
      1330       1340       1350       1360       1370       1380
aagcggaagc gagagagtga gagtgaaagt gacgagactc ctccagcagc tcctcagttg
      1390       1400       1410       1420       1430       1440
atcaagaagg aaaagaagaa gagtaagaag gacaagaagg ccaaagctgg tctggagagc
      1450       1460       1470       1480       1490       1500
ggggccgagc ctggagatgg ggacagtgat accaccaaga agaagaagaa gaagaagaaa
      1510       1520       1530
gcaaaagagg tagaattggt ttctgagtag   

Last modification date: Oct. 2, 2011