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Aliases & Descriptions for RECQL4
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 3.6.1.- 3 | | RECQ4 2, 3, 5 | | RTS 3, 5 | | RecQ4 1, 3 |
| | | Descriptions |
|---|
| RecQ protein 4 2 | | RecQ protein-like 4 2, 3 |
|
| | Search outside databases for aliases for RECQL4 genePrevious GC identifers: GC08M143300 GC08M145774 GC08M145341 GC08M145741 |
Summaries for RECQL4(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Function: DNA-dependent ATPase. May modulate chromosome segregationGene Wiki entry for RECQL4 |
Genomic Location for RECQL4
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the RECQL4 gene 
Entrez Gene cytogenetic band: 8q24.3 Ensembl cytogenetic band: 8q24.3 HGNC cytogenetic band: 8q24.3RECQL4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08M145707:
(about GC identifiers)
Start:
|
145,707,479 bp from pter |
End:
|
145,714,008 bp from pter |
Size:
|
6,530 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000008.9 NT_037704.4
| Proteins for RECQL4
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761 (See
protein sequence)Recommended Name: ATP-dependent DNA helicase Q4 Size: 1208 amino acids; Da
Subunit: Interacts with UBR1 and UBR2
Subcellular location: Cytoplasm. Nucleus
Secondary accessions: Q3Y424 Q96DW2 Q96F55Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004251.2
ENSEMBL proteins: ENSP00000301323
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for RECQL4: Assays for RECQL4: | Protein
Domains/ Families for RECQL4(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry O94761
ProtoNet protein and cluster: O94761 1 Blocks protein family: IPB002464 ATP-dependent helicase
UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Similarity: Belongs to the helicase family. RecQ subfamilySimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain | Gene Function for RECQL4
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004260
Applied Biosystems Silencer® siRNAs for RECQL4
Sigma-Aldrich siRNA and siRNA Panels for RECQL4  Sigma-Aldrich shRNA Panels and shRNA for RECQL4  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004260                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004260                                  untagged cDNA clones in CMV expression vector (see all 3): BC013277 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004260
UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Function: DNA-dependent ATPase. May modulate chromosome segregationInduction: Up-regulated in actively dividing cellsEnzyme Number (IUBMB): EC 3.6.1.- Genatlas biochemistry entry for RECQL4:DNA helicase ATP dependent,with E coli RecQ,expressed in thymus and testis as the BLM gene and up-regulated at the G1/S and G2/M stage of the cell cycle,involved in the maintenance of genomic integrity15/16 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Recql4) (see all 16
):
5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
): About this table | Pathways & Interactions for RECQL4
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for RECQL4 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for RECQL4 
5/8 Interacting proteins for RECQL4 (ENSP000003013233 O947612) via UniProtKB, MINT, and/or STRING (see all 8
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for RECQL4(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for RECQL4
|
Transcripts for RECQL4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|                OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004260
Sigma-Aldrich siRNA and siRNA Panels for RECQL4  Sigma-Aldrich shRNA Panels and shRNA for RECQL4  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004260 REFSEQ mRNAs for RECQL4 gene: NM_004260.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004260               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004260                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004260                                  untagged cDNA clones in CMV expression vector (see all 3): BC013277  Additional cDNA sequence: AB006532.1 BC011602.2 BC013277.2 BC020496.2 10 DOTS entries: DT.409421 DT.91829401 DT.121487236 DT.92425820 DT.100755281 DT.92030793 DT.102843665 DT.121487256 DT.95308835 DT.97813869 24/88 AceView cDNA sequences (see all 88
):AI341050 BM702983 BE466402 BU902971 BF513150 BE869080 BF909603 BC011602 BE513519 BQ215879 BM854499 AI590776 BC013277 BQ649577 CF619328 BG337750 BQ065027 BM557643 BE378846 BU902969 AL582326 BM763376 BQ218075 BG398209
highest scoring ESTs for RECQL4:AB006532 AA768048 AA984927 AI590776 AI765149 AI858255 AI872334 AI886385 AW236527 BC011602 Unigene Cluster for RECQL4: RecQ protein-like 4 Hs.31442 [show with all ESTs]Unigene Representative Sequence: BC020496
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RECQL4 (see all 8
)
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | |
| SP1: | |   | - |   | - |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
| ExUns: | 15b | · | 15c | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | · | 20c | |
| SP1: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for RECQL4
1 Ensembl transcript including schematic representation: ENST00000301323
|
Expression for RECQL4
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| RECQL4 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for RECQL4
1 / 2 / 3 6 probe-sets matching RECQL4 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCCTGGTGGG
SOURCE GeneReport for Unigene cluster: Hs.31442
Expression variation in blood from EXPOLDB for RECQL4 UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis |
Orthologs for RECQL4
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for RECQL4 gene from 5/12 species (see all 12
)
About this table Species with no ortholog for RECQL4
ENSEMBL Gene Tree for RECQL4 | Paralogs for RECQL4(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for RECQL4 gene
- RECQL52
|
SNPs/Variants for RECQL4(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for RECQL4 (up to first 250kb)
|
Disorders & Mutations for RECQL4
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603780 disorders: 268400 266280 218600 UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761
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 syndromes10/17 Novoseek disease relationships for RECQL4 gene (see all 17
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| rothmund-thomson syndrome |
98.68 |
39 |
12218919 (2), 15960976 (2), 10552928 (2), 19177149 (2) (see all 31) |
| rapadilino syndrome |
98.03 |
7 |
15964893 (2), 15317757 (2), 17250975 (1), 19291770 (1) |
| baller-gerold syndrome |
94.14 |
8 |
19299466 (1), 17250975 (1), 17364146 (1), 15964893 (1) (see all 6) |
| bloom syndrome |
90.93 |
9 |
15702347 (1), 16793396 (1), 17623900 (1), 18719387 (1) (see all 9) |
| werner syndrome |
89.59 |
11 |
15702347 (1), 16271439 (1), 16793396 (1), 16949575 (1) (see all 11) |
| small stature |
75.77 |
1 |
16630167 (1) |
| osteosarcoma |
59.18 |
13 |
12734318 (4), 15221963 (2), 17264332 (1), 18647888 (1) (see all 8) |
| craniosynostosis |
57.54 |
1 |
19022412 (1) |
| genetic disorder |
55.92 |
2 |
10552928 (1), 11032027 (1) |
| growth retardation |
54.64 |
1 |
15317757 (1) |
About this table
GeneTests: RECQL4 Baller-Gerold Syndrome Human Gene Mutation Database: RECQL4 Genetic Association Database: RECQL4 Human Genome Epidemiology Navigator: RECQL4 (4 documents)
|
Medical News for RECQL4(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for RECQL4 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/76 PubMed articles for RECQL4 gene (see all 76
):- Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PubMed id 9878247)1, 2, 3, 4 Kitao S.... Shimamoto A. (1998)
- Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (PubMed id 10552928)1, 3, 4 Kitao S.... Shimamoto A. (1999)
- RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PubMed id 15317757)1, 3, 4 Yin J.... Wang W. (2004)
- Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (PubMed id 12734318)1, 3, 6 Wang L.L....Plon S.E. (2003)
- Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. (PubMed id 15221963)1, 3, 4 Nishijo K.... Toguchida J. (2004)
- Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (PubMed id 15964893)1, 3, 4 Van Maldergem L.... Verloes A. (2006)
- Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. (PubMed id 12601557)1, 3, 4 Roversi G.... Larizza L. (2003)
- Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (PubMed id 15960976)1, 2, 3 Sangrithi M.N....Venkitaraman A.R. (2005)
- Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (PubMed id 12952869)1, 3, 4 Siitonen H.A.... Kestilae M. (2003)
- Differential regulation of human RecQ family helicases in cell transformation and cell cycle. (PubMed id 11032027)1, 3, 4 Kawabe T.... Sugimoto M. (2000)
|
Search for RECQL4
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RECQL4
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing RECQL4
(According to HUGE)
About This Section
| -- |
Specialized Databases showing RECQL4(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for RECQL4(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for RECQL4:

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