Homo sapiens L. (human) [HSA]

FULL NAME: Regulator of telomere elongation helicase 1


DESCRIPTION:
ATP-dependent DNA helicase required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by promoting the disassembly of D loop recombination intermediates. Also required to regulate telomere length; probably due to its anti-recombinase function.

MISCELLANEOUS:
Amplified in gastric tumors.


STRUCTURE SIMILARITY:
Belongs to the helicase family. RAD3/XPD subfamily.
Contains 1 helicase ATP-binding domain.


CATALYTIC ACTIVITY:
ATP + H(2)O = ADP + phosphate.


PROTEIN TYPE(S):
5'-3' DNA helicase


RELATED PATHWAY(S):
telomere maintenance


Amino acids sequence

        10         20         30         40         50         60
MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
        70         80         90        100        110        120
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
       130        140        150        160        170        180
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
       190        200        210        220        230        240
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
       250        260        270        280        290        300
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
       310        320        330        340        350        360
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
       370        380        390        400        410        420
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
       430        440        450        460        470        480
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
       490        500        510        520        530        540
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
       550        560        570        580        590        600
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
       610        620        630        640        650        660
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
       670        680        690        700        710        720
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
       730        740        750        760        770        780
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
       790        800        810        820        830        840
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
       850        860        870        880        890        900
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
       910        920        930        940        950        960
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
       970        980        990       1000       1010       1020
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
      1030       1040       1050       1060       1070       1080
HLNQGRPHLS PRPPPTGDPG SQPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
      1090       1100       1110       1120       1130       1140
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
      1150       1160       1170       1180       1190       1200
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
      1210
GPSQSSGPPH GPAASEWGL    

Encoded by RTEL1 gene

FULL NAME: regulator of telomere elongation helicase 1


OTHER NAME(S):
C20orf41
DKFZp434C013
KIAA1088
NHL
RTEL
bK3184A7.3


DESCRIPTION:
In mice, inactivation of the Rtel (regulator of telomere length) gene has been shown to cause chromosome breaks, fusions, and telomere loss. In addition, Rtel is required for telomere elongation. Therefore, the mouse Rtel gene regulates chromosome stability and telomere length. This gene is the human ortholog of the mouse Rtel gene, so its protein product may play similar roles in humans. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), generates a non-coding transcript. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]


Nucleic acid sequence

        10         20         30         40         50         60
atgcccaaga tagtcctgaa tggtgtgacc gtagacttcc ctttccagcc ctacaaatgc
        70         80         90        100        110        120
caacaggagt acatgaccaa ggtcctggaa tgtctgcagc agaaggtgaa tggcatcctg
       130        140        150        160        170        180
gagagcccta cgggtacagg gaagacgctg tgcctgctgt gcaccacgct ggcctggcga
       190        200        210        220        230        240
gaacacctcc gagacggcat ctctgcccgc aagattgccg agagggcgca aggagagctt
       250        260        270        280        290        300
ttcccggatc gggccttgtc atcctggggc aacgctgctg ctgctgctgg agaccccata
       310        320        330        340        350        360
gcttgctaca cggacatccc aaagattatt tacgcctcca ggacccactc gcaactcaca
       370        380        390        400        410        420
caggtcatca acgagcttcg gaacacctcc taccggccta aggtgtgtgt gctgggctcc
       430        440        450        460        470        480
cgggagcagc tgtgcatcca tcctgaggtg aagaaacaag agagtaacca tctacagatc
       490        500        510        520        530        540
cacttgtgcc gtaagaaggt ggcaagtcgc tcctgtcatt tctacaacaa cgtagaagaa
       550        560        570        580        590        600
aaaagcctgg agcaggagct ggccagcccc atcctggaca ttgaggactt ggtcaagagc
       610        620        630        640        650        660
ggaagcaagc acagggtgtg cccttactac ctgtcccgga acctgaagca gcaagccgac
       670        680        690        700        710        720
atcatattca tgccgtacaa ttacttgttg gatgccaaga gccgcagagc acacaacatt
       730        740        750        760        770        780
gacctgaagg ggacagtcgt gatctttgac gaagctcaca acgtggagaa gatgtgtgaa
       790        800        810        820        830        840
gaatcggcat cctttgacct gactccccat gacctggctt caggactgga cgtcatagac
       850        860        870        880        890        900
caggtgctgg aggagcagac caaggcagcg cagcagggtg agccccaccc ggagttcagc
       910        920        930        940        950        960
gcggactccc ccagcccagg gctgaacatg gagctggaag acattgcaaa gctgaagatg
       970        980        990       1000       1010       1020
atcctgctgc gcctggaggg ggccatcgat gctgttgagc tgcctggaga cgacagcggt
      1030       1040       1050       1060       1070       1080
gtcaccaagc cagggagcta catctttgag ctgtttgctg aagcccagat cacgtttcag
      1090       1100       1110       1120       1130       1140
accaagggct gcatcctgga ctcgctggac cagatcatcc agcacctggc aggacgtgct
      1150       1160       1170       1180       1190       1200
ggagtgttca ccaacacggc cggactgcag aagctggcgg acattatcca gattgtgttc
      1210       1220       1230       1240       1250       1260
agtgtggacc cctccgaggg cagccctggt tccccagcag ggctgggggc cttacagtcc
      1270       1280       1290       1300       1310       1320
tataaggtgc acatccatcc tgatgctggt caccggagga cggctcagcg gtctgatgcc
      1330       1340       1350       1360       1370       1380
tggagcacca ctgcagccag aaagcgaggg aaggtgctga gctactggtg cttcagtccc
      1390       1400       1410       1420       1430       1440
ggccacagca tgcacgagct ggtccgccag ggcgtccgct ccctcatcct taccagcggc
      1450       1460       1470       1480       1490       1500
acgctggccc cggtgtcctc ctttgctctg gagatgcaga tccctttccc agtctgcctg
      1510       1520       1530       1540       1550       1560
gagaacccac acatcatcga caagcaccag atctgggtgg gggtcgtccc cagaggcccc
      1570       1580       1590       1600       1610       1620
gatggagccc agttgagctc cgcgtttgac agacggtttt ccgaggagtg cttatcctcc
      1630       1640       1650       1660       1670       1680
ctggggaagg ctctgggcaa catcgcccgc gtggtgccct atgggctcct gatcttcttc
      1690       1700       1710       1720       1730       1740
ccttcctatc ctgtcatgga gaagagcctg gagttctggc gggcccgcga cttggccagg
      1750       1760       1770       1780       1790       1800
aagatggagg cgctgaagcc gctgtttgtg gagcccagga gcaaaggcag cttctccgag
      1810       1820       1830       1840       1850       1860
accatcagtg cttactatgc aagggttgcc gcccctgggt ccaccggcgc caccttcctg
      1870       1880       1890       1900       1910       1920
gcggtctgcc ggggcaaggc cagcgagggg ctggacttct cagacacgaa tggccgtggt
      1930       1940       1950       1960       1970       1980
gtgattgtca cgggcctccc gtacccccca cgcatggacc cccgggttgt cctcaagatg
      1990       2000       2010       2020       2030       2040
cagttcctgg atgagatgaa gggccagggt ggggctgggg gccagttcct ctctgggcag
      2050       2060       2070       2080       2090       2100
gagtggtacc ggcagcaggc gtccagggct gtgaaccagg ccatcgggcg agtgatccgg
      2110       2120       2130       2140       2150       2160
caccgccagg actacggagc tgtcttcctc tgtgaccaca ggttcgcctt tgccgacgca
      2170       2180       2190       2200       2210       2220
agagcccaac tgccctcctg ggtgcgtccc cacgtcaggg tgtatgacaa ctttggccat
      2230       2240       2250       2260       2270       2280
gtcatccgag acgtggccca gttcttccgt gttgccgagc gaactatgcc agcgccggcc
      2290       2300       2310       2320       2330       2340
ccccgggcta cagcacccag tgtgcgtgga gaagatgctg tcagcgaggc caagtcgcct
      2350       2360       2370       2380       2390       2400
ggccccttct tctccaccag gaaagctaag agtctggacc tgcatgtccc cagcctgaag
      2410       2420       2430       2440       2450       2460
cagaggtcct cagggtcacc agctgccggg gaccccgaga gtagcctgtg tgtggagtat
      2470       2480       2490       2500       2510       2520
gagcaggagc cagttcctgc ccggcagagg cccagggggc tgctggccgc cctggagcac
      2530       2540       2550       2560       2570       2580
agcgaacagc gggcggggag ccctggcgag gagcaggccc acagctgctc caccctgtcc
      2590       2600       2610       2620       2630       2640
ctcctgtctg agaagaggcc ggcagaagaa ccgcgaggag ggaggaagaa gatccggctg
      2650       2660       2670       2680       2690       2700
gtcagccacc cggaggagcc cgtggctggt gcacagacgg acagggccaa gctcttcatg
      2710       2720       2730       2740       2750       2760
gtggccgtga agcaggagtt gagccaagcc aactttgcca ccttcaccca ggccctgcag
      2770       2780       2790       2800       2810       2820
gactacaagg gttccgatga cttcgccgcc ctggccgcct gtctcggccc cctctttgct
      2830       2840       2850       2860       2870       2880
gaggacccca agaagcacaa cctgctccaa ggcttctacc agtttgtgcg gccccaccat
      2890       2900       2910       2920       2930       2940
aagcagcagt ttgaggaggt ctgtatccag ctgacaggac gaggctgtgg ctatcggcct
      2950       2960       2970       2980       2990       3000
gagcacagca ttccccgaag gcagcgggca cagccggtcc tggaccccac tggaagaacg
      3010       3020       3030       3040       3050       3060
gcgccggatc ccaagctgac cgtgtccacg gctgcagccc agcagctgga cccccaagag
      3070       3080       3090       3100       3110       3120
cacctgaacc agggcaggcc ccacctgtcg cccaggccac ccccaacagg agaccctggc
      3130       3140       3150       3160       3170       3180
agccaaccac agtgggggtc tggagtgccc agagcaggga agcagggcca gcacgccgtg
      3190       3200       3210       3220       3230       3240
agcgcctacc tggctgatgc ccgcagggcc ctggggtccg cgggctgtag ccaactcttg
      3250       3260       3270       3280       3290       3300
gcagcgctga cagcctataa gcaagacgac gacctcgaca aggtgctggc tgtgttggcc
      3310       3320       3330       3340       3350       3360
gccctgacca ctgcaaagcc agaggacttc cccctgctgc acaggttcag catgtttgtg
      3370       3380       3390       3400       3410       3420
cgtccacacc acaagcagcg cttctcacag acgtgcacag acctgaccgg ccggccctac
      3430       3440       3450       3460       3470       3480
ccgggcatgg agccaccggg accccaggag gagaggcttg ccgtgcctcc tgtgcttacc
      3490       3500       3510       3520       3530       3540
cacagggctc cccaaccagg cccctcacgg tccgagaaga ccgggaagac ccagagcaag
      3550       3560       3570       3580       3590       3600
atctcgtcct tccttagaca gaggccagca gggactgtgg gggcgggcgg tgaggatgca
      3610       3620       3630       3640       3650       3660
ggtcccagcc agtcctcagg acctccccac gggcctgcag catctgagtg gggcctctag

Last modification date: Oct. 2, 2011