Reviewed,
UniProtKB/Swiss-Prot O94761 (RECQ4_HUMAN)
Last modified
November 25, 2008.
Version 80.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: ATP-dependent DNA helicase Q4 EC=3.6.1.- Alternative name(s): RecQ protein-like 4 Short name=RecQ4 RTS | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1208 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | DNA-dependent ATPase. May modulate chromosome segregation. |
| Subunit structure | Interacts with UBR1 and UBR2. |
| Subcellular location | |
| Tissue specificity | Ubiquitously expressed, with highest levels in thymus and testis. |
| Induction | Up-regulated in actively dividing cells. |
| Involvement in 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. Defects in RECQL4 are a cause of RAPADILINO syndrome [MIM:266280]. A disease characterized by radial and patellar aplasia or hypoplasia. 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. |
| Sequence similarities | Belongs to the helicase family. RecQ subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. |
Ontologies
Keywords | |
|---|---|
| Cellular component | Cytoplasm Nucleus |
| Coding sequence diversity | Polymorphism |
| Disease | Cataract Craniosynostosis Disease mutation Dwarfism |
| Ligand | ATP-binding Nucleotide-binding |
| Molecular function | Helicase Hydrolase |
Gene Ontology (GO) | |
| Biological process | DNA recombination Inferred from electronic annotation. Source: InterPro DNA repair Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW nucleusInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | ATP binding Inferred from electronic annotation. Source: InterPro ATP-dependent helicase activityInferred from electronic annotation. Source: InterPro DNA helicase activity Ref.1Traceable author statement. Source: ProtInc nucleic acid bindingInferred from electronic annotation. Source: InterPro zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1208 | 1208 | ATP-dependent DNA helicase Q4 | PRO_0000205053 | |||||
Regions | |||||||||
| Domain | 489 – 662 | 174 | Helicase ATP-binding | ||||||
| Domain | 683 – 850 | 168 | Helicase C-terminal | ||||||
| Nucleotide binding | 502 – 509 | 8 | ATP Potential | ||||||
| Motif | 605 – 608 | 4 | DEAH box | ||||||
Natural variations | |||||||||
| Natural variant | 54 | 1 | Q → R | VAR_025117 | |||||
| Natural variant | 71 | 1 | E → G | VAR_025118 | |||||
| Natural variant | 92 | 1 | P → S | VAR_025119 | |||||
| Natural variant | 189 | 1 | G → S | VAR_025120 | |||||
| Natural variant | 267 | 1 | E → D Common polymorphism. | VAR_023295 | |||||
| Natural variant | 273 | 1 | A → T | VAR_025121 | |||||
| Natural variant | 301 | 1 | E → K | VAR_025122 | |||||
| Natural variant | 355 | 1 | R → Q | VAR_023296 | |||||
| Natural variant | 441 | 1 | P → S | VAR_023297 | |||||
| Natural variant | 522 | 1 | R → C | VAR_025123 | |||||
| Natural variant | 522 | 1 | R → H | VAR_025124 | |||||
| Natural variant | 523 | 1 | S → T | VAR_026590 | |||||
| Natural variant | 591 | 1 | P → L | VAR_025125 | |||||
| Natural variant | 793 | 1 | P → S | VAR_025126 | |||||
| Natural variant | 799 | 1 | V → M | VAR_025127 | |||||
| Natural variant | 857 – 858 | 2 | Missing | VAR_023298 | |||||
| Natural variant | 964 | 1 | P → T | VAR_025128 | |||||
| Natural variant | 976 | 1 | E → K | VAR_025129 | |||||
| Natural variant | 1004 | 1 | R → W | VAR_025130 | |||||
| Natural variant | 1005 | 1 | R → Q Common polymorphism. | VAR_023299 | |||||
| Natural variant | 1021 | 1 | R → Q | VAR_025131 | |||||
| Natural variant | 1021 | 1 | R → W in BGS. | VAR_026591 | |||||
| Natural variant | 1045 | 1 | A → T | VAR_025132 | |||||
| Natural variant | 1105 | 1 | G → D | VAR_025133 | |||||
| Natural variant | 1105 | 1 | G → S | VAR_025134 | |||||
| Natural variant | 1106 | 1 | R → H | VAR_025135 | |||||
| Natural variant | 1113 | 1 | G → R | VAR_025136 | |||||
| Natural variant | 1148 | 1 | S → F | VAR_025137 | |||||
Sequences
| ||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "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 54:443-452(1998) [PubMed: 9878247] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Testis. |
| [2] | "Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products." Kitao S., Lindor N.M., Shiratori M., Furuichi Y., Shimamoto A. Genomics 61:268-276(1999) [PubMed: 10552928] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INVOLVEMENT IN ROTHMUND-THOMSON SYNDROME. |
| [3] | "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Livingston R.J., Rieder M.J., Shaffer T., Bertucci C., Baier C.N., Rajkumar N., Willa H.T., Daniels M., Downing T.K., Stanaway I.B., Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J., Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A. Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-54; GLY-71; SER-92; SER-189; ASP-267; THR-273; LYS-301; CYS-522; HIS-522; LEU-591; SER-793; MET-799; THR-964; LYS-976; TRP-1004; GLN-1005; GLN-1021; THR-1045; SER-1105; ASP-1105; HIS-1106; ARG-1113 AND PHE-1148. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 468-1208. Tissue: Lymph and Placenta. |
| [5] | "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 N.A., Ide T., Furuichi Y., Sugimoto M. Oncogene 19:4764-4772(2000) [PubMed: 11032027] [Abstract] Cited for: INDUCTION. |
| [6] | "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases." Siitonen H.A., Kopra O., Kaeaeriaeinen H., Haravuori H., Winter R.M., Saeaemaenen A.-M., Peltonen L., Kestilae M. Hum. Mol. Genet. 12:2837-2844(2003) [PubMed: 12952869] [Abstract] Cited for: INVOLVEMENT IN RAPADILINO SYNDROME. |
| [7] | "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 Y.T., Varshavsky A., Wang W. Hum. Mol. Genet. 13:2421-2430(2004) [PubMed: 15317757] [Abstract] Cited for: INTERACTION WITH UBR1 AND UBR2, SUBCELLULAR LOCATION, FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY. |
| [8] | "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. 48:107-109(2003) [PubMed: 12601557] [Abstract] Cited for: VARIANTS ASP-267 AND GLN-1005. |
| [9] | "Mutation analysis of the RECQL4 gene in sporadic osteosarcomas." Nishijo K., Nakayama T., Aoyama T., Okamoto T., Ishibe T., Yasura K., Shima Y., Shibata K.R., Tsuboyama T., Nakamura T., Toguchida J. Int. J. Cancer 111:367-372(2004) [PubMed: 15221963] [Abstract] Cited for: VARIANTS GLN-355; SER-441 AND 857-CYS--THR-858 DEL. |
| [10] | "Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene." Van Maldergem L., Siitonen H.A., Jalkh N., Chouery E., De Roy M., Delague V., Muenke M., Jabs E.W., Cai J., Wang L.L., Plon S.E., Fourneau C., Kestilae M., Gillerot Y., Megarbane A., Verloes A. J. Med. Genet. 43:148-152(2006) [PubMed: 15964893] [Abstract] Cited for: VARIANT BGS TRP-1021, VARIANT THR-523. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AB006532 mRNA. Translation: BAA74453.1. AB026546 Genomic DNA. Translation: BAA86899.1. DQ176868 Genomic DNA. Translation: AAZ85145.1. BC011602 mRNA. Translation: AAH11602.2. BC013277 mRNA. Translation: AAH13277.2. Different initiation. | |
| RefSeq | NP_004251.2. |
| UniGene | Hs.31442 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1OYY based on UniProtKB P15043. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O94761. |
PTM databases | |
| PhosphoSite | O94761. |
Polymorphism databases | |
| NIEHS-SNPs | Search... |
Genome annotation databases | |
| Ensembl | ENSG00000160957. Homo sapiens. [Contig view] |
| GeneID | 9401. |
| KEGG | hsa:9401. |
Organism-specific databases | |
| H-InvDB | HIX0034231. |
| HGNC | HGNC:9949. RECQL4. |
| HPA | CAB017800. HPA008291. |
| MIM | 218600. phenotype. 266280. phenotype. 268400. phenotype. 603780. gene. |
| Orphanet | 1225. Baller-Gerold syndrome. 3021. RAPADILINO syndrome. 2909. Rothmund-Thomson syndrome. |
| PharmGKB | PA34316. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | O94761. |
| HOVERGEN | O94761. |
Gene expression databases | |
| CleanEx | HS_RECQL4. |
| GermOnline | ENSG00000160957. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR014001. DEAD-like_N. IPR001650. DNA/RNA_helicase_C. IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR002464. DNA/RNA_helicase_DEAH_CS. IPR004589. DNA_helicase_ATP-dep_RecQ. IPR014021. Helicase_SF1/SF2_ATP-bd. IPR001878. Znf_CCHC. [Graphical view] |
| PANTHER | PTHR13710. RecQ. 1 hit. |
| Pfam | PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. [Graphical view] |
| SMART | SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00343. ZnF_C2HC. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR00614. recQ_fam. 1 hit. |
| PROSITE | PS00690. DEAH_ATP_HELICASE. False negative. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 35219. |
| SOURCE | Search... |
Entry information
| Entry name | RECQ4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O94761 Secondary accession number(s): Q3Y424, Q96DW2, Q96F55 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


