Q75NR7 (RECQ4_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 83.
History...
Clusters with 
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: ATP-dependent DNA helicase Q4 EC=3.6.4.12 Alternative name(s): DNA helicase, RecQ-like type 4 Short name=RecQ4 RecQ protein-like 4 | ||||
| Gene names |
| ||||
| Organism | Mus musculus (Mouse) [Reference proteome] | ||||
| Taxonomic identifier | 10090 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus |
Protein attributes
| Sequence length | 1216 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | DNA-dependent ATPase By similarity. May play a role in development of the palate and the limbs. May modulate chromosome segregation. Ref.2 Ref.4 |
| Catalytic activity | ATP + H2O = ADP + phosphate. |
| Subunit structure | Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity By similarity. |
| Subcellular location | |
| 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. Ref.3 |
| 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. Ref.2 Ref.4 |
| Sequence similarities | Belongs to the helicase family. RecQ subfamily. Contains 1 CCHC-type zinc finger. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q75NR7-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q75NR7-2) The sequence of this isoform differs from the canonical sequence as follows: 843-843: Q → QVGSPISPDQDRPRGSTIPRPLQPQLLSCLPVSCRPGPKCGSSVHMTVPMQ |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1216 | 1216 | ATP-dependent DNA helicase Q4 | PRO_0000205054 | |||||
Regions | |||||||||
| Domain | 506 – 684 | 179 | Helicase ATP-binding | ||||||
| Domain | 705 – 872 | 168 | Helicase C-terminal | ||||||
| Zinc finger | 393 – 410 | 18 | CCHC-type | ||||||
| Nucleotide binding | 519 – 526 | 8 | ATP Potential | ||||||
| Motif | 627 – 630 | 4 | DEAH box | ||||||
Natural variations | |||||||||
| Alternative sequence | 843 | 1 | Q → QVGSPISPDQDRPRGSTIPR PLQPQLLSCLPVSCRPGPKC GSSVHMTVPMQ in isoform 2. | VSP_015177 | |||||
Experimental info | |||||||||
| Sequence conflict | 732 – 739 | 8 | ERIQNGWL → RKDTERVA in BAD14289. Ref.1 | ||||||
| Sequence conflict | 878 | 1 | S → G in BAD11131. Ref.1 | ||||||
| Sequence conflict | 929 | 1 | I → T in BAD11131. Ref.1 | ||||||
| Sequence conflict | 937 | 1 | E → TK in BAD11131. Ref.1 | ||||||
| Sequence conflict | 1111 | 1 | T → D in BAD11131. Ref.1 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| [1] | "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 261:251-258(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 16-1115 (ISOFORM 2). |
| [2] | "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. 12:2293-2299(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, DISRUPTION PHENOTYPE. |
| [3] | "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] [Europe PMC] [Abstract] Cited for: DEVELOPMENTAL STAGE. |
| [4] | "Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome." Mann M.B., Hodges C.A., Barnes E., Vogel H., Hassold T.J., Luo G. Hum. Mol. Genet. 14:813-825(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, DISRUPTION PHENOTYPE. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB039882 mRNA. Translation: BAD11131.1. AB175741 mRNA. Translation: BAD14289.1. AB042529 Genomic DNA. Translation: BAB32696.1. |
| IPI | IPI00119366. IPI00462416. |
| RefSeq | NP_478121.2. NM_058214.3. |
| UniGene | Mm.18373. |
3D structure databases | |
| ProteinModelPortal | Q75NR7. |
| SMR | Q75NR7. Positions 1-54, 393-429, 491-892. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q75NR7. 10 interactions. |
PTM databases | |
| PhosphoSite | Q75NR7. |
Proteomic databases | |
| PaxDb | Q75NR7. |
| PRIDE | Q75NR7. |
Protocols and materials databases | |
| DNASU | 79456. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000036852; ENSMUSP00000044363; ENSMUSG00000033762. |
| GeneID | 79456. |
| KEGG | mmu:79456. |
| UCSC | uc007wlv.1. mouse. |
Organism-specific databases | |
| CTD | 9401. |
| MGI | MGI:1931028. Recql4. |
Phylogenomic databases | |
| eggNOG | COG0514. |
| GeneTree | ENSGT00550000074520. |
| HOGENOM | HOG000264957. |
| HOVERGEN | HBG065925. |
| KO | K10730. |
| OrthoDB | EOG4CJVGG. |
Gene expression databases | |
| Bgee | Q75NR7. |
| CleanEx | MM_RECQL4. |
| Genevestigator | Q75NR7. |
| GermOnline | ENSMUSG00000033762. Mus musculus. |
Family and domain databases | |
| Gene3D | 4.10.60.10. 1 hit. |
| InterPro | IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR004589. DNA_helicase_ATP-dep_RecQ. IPR021110. DNA_rep_checkpnt_protein. IPR014001. Helicase_ATP-bd. IPR001650. Helicase_C. IPR001878. Znf_CCHC. [Graphical view] |
| Pfam | PF00270. DEAD. 1 hit. PF11719. Drc1-Sld2. 1 hit. PF00271. Helicase_C. 1 hit. PF00098. zf-CCHC. 1 hit. [Graphical view] |
| SMART | SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00343. ZnF_C2HC. 1 hit. [Graphical view] |
| SUPFAM | SSF57756. SSF57756. 1 hit. |
| 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. PS50158. ZF_CCHC. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 349927. |
| SOURCE | Search... |
Entry information
| Entry name | RECQ4_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q75NR7 Secondary accession number(s): Q76MT1, Q99PV9 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |