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RECQL4 |
Protein FULL name:
RecQ protein-like 4 [Homo sapiens].
RECQL4 (Homo sapiens) is product of expression of RECQL4 gene.
Human diseases related to this protein:
FUNCTION: DNA-dependent ATPase. 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.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in thymus and testis.
INDUCTION: Up-regulated in actively dividing cells.
DISEASE: Defects in RECQL4 are a cause of Rothmund-Thomson syndrome (RTS) [MIM:268400]. A disease characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.
DISEASE: Defects in RECQL4 are a cause of RAPADILINO syndrome [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia.
DISEASE: Defects in RECQL4 are a cause of Baller-Gerold syndrome (BGS) [MIM:218600]; also known as craniosynostosis with radial defects. BGS is an autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. BGS is part of the clinical spectrum of Rothmund-Thomson and RAPADILINO syndromes.
SIMILARITY: Belongs to the helicase family. RecQ subfamily.
SIMILARITY: Contains 1 helicase ATP-binding domain.
SIMILARITY: Contains 1 helicase C-terminal domain.
SEQUENCE CAUTION: Sequence=AAH13277.2; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; [LINK]
WEB RESOURCE: Name=GeneReviews; [LINK]
WEB RESOURCE: Name=NIEHS-SNPs; [LINK]
| NCBI GenPept GI number(s): |
116812616 |
| Species: | Homo sapiens |
Links to other databases:
| Database | ID | Link |
| Uniprot | O94761 |
O94761 |
| PFAM: | - |
O94761 (Link - using uniprot id) |
| InterPro: | - |
O94761 (Link - using uniprot id) |
| CATH: | - | - |
| SCOP: | - | - |
| PDB: | - | - |
Protein sequence:
|
MERLRDVRERLQAWERAFRRQRGRRPSQDDVEAAPEETRALYREYRTLKR TTGQAGGGLRSSESLPAAAEEAPEPRCWGPHLNRAATKSPQSTPGRSRQG SVPDYGQRLKANLKGTLQAGPALGRRPWPLGRASSKASTPKPPGTGPVPS FAEKVSDEPPQLPEPQPRPGRLQHLQASLSQRLGSLDPGWLQRCHSEVPD FLGAPKACRPDLGSEESQLLIPGESAVLGPGAGSQGPEASAFQEVSIRVG SPQPSSSGGEKRRWNEEPWESPAQVQQESSQAGPPSEGAGAVAVEEDPPG EPVQAQPPQPCSSPSNPRYHGLSPSSQARAGKAEGTAPLHIFPRLARHDR GNYVRLNMKQKHYVRGRALRSRLLRKQAWKQKWRKKGECFGGGGATVTTK ESCFLNEQFDHWAAQCPRPASEEDTDAVGPEPLVPSPQPVPEVPSLDPTV LPLYSLGPSGQLAETPAEVFQALEQLGHQAFRPGQERAVMRILSGISTLL VLPTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSGLPPCLKA ACIHSGMTRKQRESVLQKIRAAQVHVLMLTPEALVGAGGLPPAAQLPPVA FACIDEAHCLSQWSHNFRPCYLRVCKVLRERMGVHCFLGLTATATRRTAS DVAQHLAVAEEPDLHGPAPVPTNLHLSVSMDRDTDQALLTLLQGKRFQNL DSIIIYCNRREDTERIAALLRTCLHAAWVPGSGGRAPKTTAEAYHAGMCS RERRRVQRAFMQGQLRVVVATVAFGMGLDRPDVRAVLHLGLPPSFESYVQ AVGRAGRDGQPAHCHLFLQPQGEDLRELRRHVHADSTDFLAVKRLVQRVF PACTCTCTRPPSEQEGAVGGERPVPKYPPQEAEQLSHQAAPGPRRVCMGH ERALPIQLTVQALDMPEEAIETLLCYLELHPHHWLELLATTYTHCRLNCP GGPAQLQALAHRCPPLAVCLAQQLPEDPGQGSSSVEFDMVKLVDSMGWEL ASVRRALCQLQWDHEPRTGVRRGTGVLVEFSELAFHLRSPGDLTAEEKDQ ICDFLYGRVQARERQALARLRRTFQAFHSVAFPSCGPCLEQQDEERSTRL KDLLGRYFEEEEGQEPGGMEDAQGPEPGQARLQDWEDQVRCDIRQFLSLR PEEKFSSRAVARIFHGIGSPCYPAQVYGQDRRFWRKYLHLSFHALVGLAT EELLQVAR |
RECQL4 (Homo sapiens) is able to recognize following damages:
RECQL4 (Homo sapiens) belongs to following protein families:
References:
| Title | Authors | Journal |
| Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. | Kitao S, Ohsugi I, Ichikawa K, Goto M, Furuichi Y, Shimamoto A | Genomics Dec. 15, 1998 |
| Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. | Kitao S, Lindor NM, Shiratori M, Furuichi Y, Shimamoto A | Genomics Nov. 1, 1999 |
| Differential regulation of human RecQ family helicases in cell transformation and cell cycle. | Kawabe T, Tsuyama N, Kitao S, Nishikawa K, Shimamoto A, Shiratori M, Matsumoto T, Anno K, Sato T, Mitsui Y, Seki M, Enomoto T, Goto M, Ellis NA, Ide T, Furuichi Y, Sugimoto M | Oncogene Sept. 28, 2000 |
| Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. | Roversi G, Beghini A, Zambruno G, Paradisi M, Larizza L | J Hum Genet Jan. 1, 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 |
| Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. | Nishijo K, Nakayama T, Aoyama T, Okamoto T, Ishibe T, Yasura K, Shima Y, Shibata KR, Tsuboyama T, Nakamura T, Toguchida J | Int J Cancer Sept. 1, 2004 |
| The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J | Genome Res Oct. 1, 2004 |
| RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. | Yin J, Kwon YT, Varshavsky A, Wang W | Hum Mol Genet Oct. 15, 2004 |
| Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. | Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A | J Med Genet Jan. 1, 2006 |
| MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication. | Xu X, Rochette PJ, Feyissa EA, Su TV, Liu Y | EMBO J Oct. 7, 2009 |
Last modification of this entry: Oct. 11, 2010.
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