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Recql4 |
Protein FULL name:
ATP-dependent DNA helicase Q4 [Mus musculus].
Recql4 (Mus musculus) is product of expression of Recql4 gene.
FUNCTION: DNA-dependent ATPase (By similarity). May play a role in development of the palate and the limbs. May modulate chromosome segregation.
CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
SUBUNIT: Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus (By similarity).
DEVELOPMENTAL STAGE: Not expressed at E12.5. Expressed at E15.5- E18.5, with highest levels in chondrocytes of developing bone and cartilage and immature proliferating enterocytes of intestine.
DISRUPTION PHENOTYPE: Early embryonic lethality. Transgenic mice with exon 13-deleted RECQL4 are severely growth-retarded and show high (95%) perinatal lethality. They exhibit various skin, bone, intestine, tooth and thymus abnormalities and premature aging features, but have normal sensitivity to IR and UV irradiation. In contrast, transgenic mice expressing a truncated form of RECQL4 exhibit mild perinatal lethality, no growth defect, but show defects of the skin and skeleton, aneuploidy and increased cancer susceptibility.
SIMILARITY: Belongs to the helicase family. RecQ subfamily.
SIMILARITY: Contains 1 CCHC-type zinc finger.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
| NCBI GenPept GI number(s): |
110815828 |
| Species: | Mus musculus |
Links to other databases:
| Database | ID | Link |
| Uniprot | Q75NR7 |
Q75NR7 |
| PFAM: | - |
Q75NR7 (Link - using uniprot id) |
| InterPro: | - |
Q75NR7 (Link - using uniprot id) |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MERLATVRARLQEWERAFARLHGRRPAKGDVEAAPEETRALYREYRNLKQ AVRQADDRHRVLEQSLAEAAEEAQEPSCWGPHLSRAATQNTQSMPKQSLL SSVQDYGKRLKANLKNTTQTGPTQSRKLQLQKRSLSTVPAPRPPGSKTES PCPDEADDALPRVPEPRPRLGQLQQLRSSLSRRLTSLDPGWLERCHNRVS DLLEVPGACGLDLSAEESQPQMSGKVNIADPDIQSEVSVQSPEAIAQQPA QVLSQSPKSINSKGRKRKWNEKGEDFAQDQPSSGAGPLSEGARATVHGQD PPGEPTQVNVPQPCNSSNQARTEKAKGTTHLHASPRPASLDRGNYIRLNM KNKRFVRVGANRGRLLRKQVWKQKWKKKQAAFGGSGPRATDKDTCFRCGQ FGHWASQCSQPGPTLTVQEEGDRDDKQPISTLEEVAQRTGTASCHHSGEE TQPAAPELQVPHCPTPMSPLYPPGPLGQVAETPAEVFQALERLGYRAFRP GQERAIMRILSGISTLLVLPTGAGKSLCYQLPALLYAQRSPCLTLVVSPL LSLMDDQVSDLPSCLKAACLHSGMTKKQRESVLKKVRAAQVHVLIVSPEA LVGCGARGPGSLPQAAQLPPIAFACIDEVHCLSQWSHNFRPCYLRVCKVL REHMGVRCFLGLTATATRSTARDVAQHLGIAGEFELSGSANIPANLHLSV SMDRDSDQALVTLLQGDRFRTLDSVIIYCTRRKDTERVAALLRTCLSMVG DSRPRGCGPEAIAEAYHAGMSSQERRRVQQAFMRGHLRMVVATVAFGMGL DRPDVRAVLHLGLPPSFESYVQAIGRAGRDGKPAHCHLFMHPQGEDLWEL RRHAHADSTDFLAVKRLVQRVFPPCTCSQRPVSKSSPEEVKEHSGQQTYP VLGQACLGHERALPVQSTVQALDMTEEAIETLLCYLELHPRHWLELLPWT YAQCHLHCLGGSAQLQALAHRCPPLAACQAKWPPKDTSQGRSSLEFGVVE LADSMGWKLASVRQALHQLKWDPEPKKGAAQGTGVLVKFSELAFHLHSRG DLTDEEKDQICDFLYNRVQAREHKALAHLHQMSKAFRSVAFPSCGPCLEQ SNEEHSNQVKTLVSYYFEEEEEEEETMTDTQGPKPGQTQLQDWEDQIRRD VRQLLSLRPEERFSGRAVARIFHGIASPCYPAQVYGLDRRFWRKYLHLDF HALMHLATEELLLRGR |
Recql4 (Mus musculus) belongs to following protein families:
References:
| Title | Authors | Journal |
| Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. | Ohhata T, Araki R, Fukumura R, Kuroiwa A, Matsuda Y, Tatsumi K, Abe M | Gene Dec. 31, 2000 |
| Growth retardation and skin abnormalities of the Recql4-deficient mouse. | Hoki Y, Araki R, Fujimori A, Ohhata T, Koseki H, Fukumura R, Nakamura M, Takahashi H, Noda Y, Kito S, Abe M | Hum Mol Genet Sept. 15, 2003 |
| Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. | Siitonen HA, Kopra O, Kaariainen H, Haravuori H, Winter RM, Saamanen AM, Peltonen L, Kestila M | Hum Mol Genet Nov. 1, 2003 |
| Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome. | Mann MB, Hodges CA, Barnes E, Vogel H, Hassold TJ, Luo G | Hum Mol Genet March 15, 2005 |
Last modification of this entry: Oct. 6, 2010.
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