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O94761

- RECQ4_HUMAN

UniProt

O94761 - RECQ4_HUMAN

Protein

ATP-dependent DNA helicase Q4

Gene

RECQL4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 142 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    DNA-dependent ATPase. May modulate chromosome segregation.1 Publication

    Catalytic activityi

    ATP + H2O = ADP + phosphate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi502 – 5098ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. annealing helicase activity Source: UniProtKB
    2. ATP binding Source: UniProtKB
    3. ATP-dependent 3'-5' DNA helicase activity Source: UniProtKB
    4. bubble DNA binding Source: UniProtKB
    5. zinc ion binding Source: InterPro

    GO - Biological processi

    1. DNA duplex unwinding Source: UniProtKB
    2. DNA recombination Source: InterPro
    3. DNA repair Source: ProtInc
    4. DNA replication Source: UniProtKB
    5. DNA strand renaturation Source: UniProtKB
    6. multicellular organismal development Source: ProtInc

    Keywords - Molecular functioni

    Helicase, Hydrolase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ATP-dependent DNA helicase Q4 (EC:3.6.4.12)
    Alternative name(s):
    DNA helicase, RecQ-like type 4
    Short name:
    RecQ4
    RTS
    RecQ protein-like 4
    Gene namesi
    Name:RECQL4
    Synonyms:RECQ4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Unplaced

    Organism-specific databases

    HGNCiHGNC:9949. RECQL4.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. membrane Source: UniProtKB
    3. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Rothmund-Thomson syndrome (RTS) [MIM:268400]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or hypoplasia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Baller-Gerold syndrome (BGS) [MIM:218600]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1021 – 10211R → W in BGS. 1 Publication
    VAR_026591

    Keywords - Diseasei

    Cataract, Craniosynostosis, Disease mutation, Dwarfism

    Organism-specific databases

    MIMi218600. phenotype.
    266280. phenotype.
    268400. phenotype.
    Orphaneti1225. Baller-Gerold syndrome.
    3021. RAPADILINO syndrome.
    221016. Rothmund-Thomson syndrome type 2.
    PharmGKBiPA34316.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12081208ATP-dependent DNA helicase Q4PRO_0000205053Add
    BLAST

    Proteomic databases

    MaxQBiO94761.
    PaxDbiO94761.
    PRIDEiO94761.

    PTM databases

    PhosphoSiteiO94761.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed, with highest levels in thymus and testis.1 Publication

    Inductioni

    Up-regulated in actively dividing cells.1 Publication

    Gene expression databases

    CleanExiHS_RECQL4.
    GenevestigatoriO94761.

    Organism-specific databases

    HPAiCAB017800.
    HPA008291.
    HPA025821.

    Interactioni

    Subunit structurei

    Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity.2 Publications

    Protein-protein interaction databases

    BioGridi114798. 13 interactions.
    DIPiDIP-48475N.
    IntActiO94761. 3 interactions.
    MINTiMINT-1432307.
    STRINGi9606.ENSP00000410312.

    Structurei

    Secondary structure

    1208
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1 – 2121
    Helixi28 – 314
    Helixi36 – 5217

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2KMUNMR-A1-54[»]
    ProteinModelPortaliO94761.
    SMRiO94761. Positions 1-54, 474-830.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiO94761.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini489 – 662174Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini683 – 850168Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi605 – 6084DEAH box

    Sequence similaritiesi

    Belongs to the helicase family. RecQ subfamily.Curated
    Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
    Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0514.
    HOGENOMiHOG000264957.
    HOVERGENiHBG065925.
    InParanoidiO94761.
    KOiK10730.
    PhylomeDBiO94761.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
    IPR004589. DNA_helicase_ATP-dep_RecQ.
    IPR021110. DNA_rep_checkpnt_protein.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR001878. Znf_CCHC.
    [Graphical view]
    PfamiPF00270. DEAD. 1 hit.
    PF11719. Drc1-Sld2. 1 hit.
    PF00271. Helicase_C. 1 hit.
    [Graphical view]
    SMARTiSM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00343. ZnF_C2HC. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 1 hit.
    TIGRFAMsiTIGR00614. recQ_fam. 1 hit.
    PROSITEiPS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O94761-1 [UniParc]FASTAAdd to Basket

    « Hide

    MERLRDVRER LQAWERAFRR QRGRRPSQDD VEAAPEETRA LYREYRTLKR     50
    TTGQAGGGLR SSESLPAAAE EAPEPRCWGP HLNRAATKSP QPTPGRSRQG 100
    SVPDYGQRLK ANLKGTLQAG PALGRRPWPL GRASSKASTP KPPGTGPVPS 150
    FAEKVSDEPP QLPEPQPRPG RLQHLQASLS QRLGSLDPGW LQRCHSEVPD 200
    FLGAPKACRP DLGSEESQLL IPGESAVLGP GAGSQGPEAS AFQEVSIRVG 250
    SPQPSSSGGE KRRWNEEPWE SPAQVQQESS QAGPPSEGAG AVAVEEDPPG 300
    EPVQAQPPQP CSSPSNPRYH GLSPSSQARA GKAEGTAPLH IFPRLARHDR 350
    GNYVRLNMKQ KHYVRGRALR SRLLRKQAWK QKWRKKGECF GGGGATVTTK 400
    ESCFLNEQFD HWAAQCPRPA SEEDTDAVGP EPLVPSPQPV PEVPSLDPTV 450
    LPLYSLGPSG QLAETPAEVF QALEQLGHQA FRPGQERAVM RILSGISTLL 500
    VLPTGAGKSL CYQLPALLYS RRSPCLTLVV SPLLSLMDDQ VSGLPPCLKA 550
    ACIHSGMTRK QRESVLQKIR AAQVHVLMLT PEALVGAGGL PPAAQLPPVA 600
    FACIDEAHCL SQWSHNFRPC YLRVCKVLRE RMGVHCFLGL TATATRRTAS 650
    DVAQHLAVAE EPDLHGPAPV PTNLHLSVSM DRDTDQALLT LLQGKRFQNL 700
    DSIIIYCNRR EDTERIAALL RTCLHAAWVP GSGGRAPKTT AEAYHAGMCS 750
    RERRRVQRAF MQGQLRVVVA TVAFGMGLDR PDVRAVLHLG LPPSFESYVQ 800
    AVGRAGRDGQ PAHCHLFLQP QGEDLRELRR HVHADSTDFL AVKRLVQRVF 850
    PACTCTCTRP PSEQEGAVGG ERPVPKYPPQ EAEQLSHQAA PGPRRVCMGH 900
    ERALPIQLTV QALDMPEEAI ETLLCYLELH PHHWLELLAT TYTHCRLNCP 950
    GGPAQLQALA HRCPPLAVCL AQQLPEDPGQ GSSSVEFDMV KLVDSMGWEL 1000
    ASVRRALCQL QWDHEPRTGV RRGTGVLVEF SELAFHLRSP GDLTAEEKDQ 1050
    ICDFLYGRVQ ARERQALARL RRTFQAFHSV AFPSCGPCLE QQDEERSTRL 1100
    KDLLGRYFEE EEGQEPGGME DAQGPEPGQA RLQDWEDQVR CDIRQFLSLR 1150
    PEEKFSSRAV ARIFHGIGSP CYPAQVYGQD RRFWRKYLHL SFHALVGLAT 1200
    EELLQVAR 1208
    Length:1,208
    Mass (Da):133,077
    Last modified:May 1, 1999 - v1
    Checksum:iCB809A7765AB48A1
    GO

    Sequence cautioni

    The sequence AAH13277.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541Q → R.1 Publication
    Corresponds to variant rs35198096 [ dbSNP | Ensembl ].
    VAR_025117
    Natural varianti71 – 711E → G.1 Publication
    Corresponds to variant rs34642881 [ dbSNP | Ensembl ].
    VAR_025118
    Natural varianti92 – 921P → S.1 Publication
    Corresponds to variant rs2721190 [ dbSNP | Ensembl ].
    VAR_025119
    Natural varianti189 – 1891G → S.1 Publication
    Corresponds to variant rs34371341 [ dbSNP | Ensembl ].
    VAR_025120
    Natural varianti267 – 2671E → D Common polymorphism. 2 Publications
    Corresponds to variant rs4244612 [ dbSNP | Ensembl ].
    VAR_023295
    Natural varianti273 – 2731A → T.1 Publication
    Corresponds to variant rs34103564 [ dbSNP | Ensembl ].
    VAR_025121
    Natural varianti301 – 3011E → K.1 Publication
    Corresponds to variant rs34633809 [ dbSNP | Ensembl ].
    VAR_025122
    Natural varianti355 – 3551R → Q.1 Publication
    VAR_023296
    Natural varianti441 – 4411P → S.1 Publication
    VAR_023297
    Natural varianti522 – 5221R → C.1 Publication
    Corresponds to variant rs35407712 [ dbSNP | Ensembl ].
    VAR_025123
    Natural varianti522 – 5221R → H.1 Publication
    Corresponds to variant rs35842750 [ dbSNP | Ensembl ].
    VAR_025124
    Natural varianti523 – 5231S → T.1 Publication
    VAR_026590
    Natural varianti591 – 5911P → L.1 Publication
    Corresponds to variant rs2721191 [ dbSNP | Ensembl ].
    VAR_025125
    Natural varianti793 – 7931P → L.
    Corresponds to variant rs35098923 [ dbSNP | Ensembl ].
    VAR_057125
    Natural varianti793 – 7931P → S.1 Publication
    Corresponds to variant rs35098923 [ dbSNP | Ensembl ].
    VAR_025126
    Natural varianti799 – 7991V → M.1 Publication
    Corresponds to variant rs34293591 [ dbSNP | Ensembl ].
    VAR_025127
    Natural varianti857 – 8582Missing.
    VAR_023298
    Natural varianti964 – 9641P → T.1 Publication
    Corresponds to variant rs33972310 [ dbSNP | Ensembl ].
    VAR_025128
    Natural varianti976 – 9761E → K.1 Publication
    Corresponds to variant rs35070885 [ dbSNP | Ensembl ].
    VAR_025129
    Natural varianti1004 – 10041R → W.1 Publication
    Corresponds to variant rs36023964 [ dbSNP | Ensembl ].
    VAR_025130
    Natural varianti1005 – 10051R → Q.2 Publications
    Corresponds to variant rs4251691 [ dbSNP | Ensembl ].
    VAR_023299
    Natural varianti1021 – 10211R → Q.1 Publication
    Corresponds to variant rs34666647 [ dbSNP | Ensembl ].
    VAR_025131
    Natural varianti1021 – 10211R → W in BGS. 1 Publication
    VAR_026591
    Natural varianti1043 – 10431L → P.
    Corresponds to variant rs4925828 [ dbSNP | Ensembl ].
    VAR_057126
    Natural varianti1045 – 10451A → T.1 Publication
    Corresponds to variant rs35348691 [ dbSNP | Ensembl ].
    VAR_025132
    Natural varianti1105 – 11051G → D.1 Publication
    Corresponds to variant rs36078464 [ dbSNP | Ensembl ].
    VAR_025133
    Natural varianti1105 – 11051G → S.1 Publication
    Corresponds to variant rs34915097 [ dbSNP | Ensembl ].
    VAR_025134
    Natural varianti1106 – 11061R → H.1 Publication
    Corresponds to variant rs34236392 [ dbSNP | Ensembl ].
    VAR_025135
    Natural varianti1113 – 11131G → R.1 Publication
    Corresponds to variant rs35101495 [ dbSNP | Ensembl ].
    VAR_025136
    Natural varianti1148 – 11481S → F.1 Publication
    Corresponds to variant rs35346077 [ dbSNP | Ensembl ].
    VAR_025137

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    RefSeqiNP_004251.3. NM_004260.3.
    UniGeneiHs.31442.

    Genome annotation databases

    GeneIDi9401.
    KEGGihsa:9401.
    UCSCiuc003zdj.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    RefSeqi NP_004251.3. NM_004260.3.
    UniGenei Hs.31442.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2KMU NMR - A 1-54 [» ]
    ProteinModelPortali O94761.
    SMRi O94761. Positions 1-54, 474-830.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114798. 13 interactions.
    DIPi DIP-48475N.
    IntActi O94761. 3 interactions.
    MINTi MINT-1432307.
    STRINGi 9606.ENSP00000410312.

    PTM databases

    PhosphoSitei O94761.

    Proteomic databases

    MaxQBi O94761.
    PaxDbi O94761.
    PRIDEi O94761.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 9401.
    KEGGi hsa:9401.
    UCSCi uc003zdj.3. human.

    Organism-specific databases

    CTDi 9401.
    GeneCardsi GC08M145739.
    GeneReviewsi RECQL4.
    HGNCi HGNC:9949. RECQL4.
    HPAi CAB017800.
    HPA008291.
    HPA025821.
    MIMi 218600. phenotype.
    266280. phenotype.
    268400. phenotype.
    603780. gene.
    neXtProti NX_O94761.
    Orphaneti 1225. Baller-Gerold syndrome.
    3021. RAPADILINO syndrome.
    221016. Rothmund-Thomson syndrome type 2.
    PharmGKBi PA34316.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0514.
    HOGENOMi HOG000264957.
    HOVERGENi HBG065925.
    InParanoidi O94761.
    KOi K10730.
    PhylomeDBi O94761.

    Miscellaneous databases

    EvolutionaryTracei O94761.
    GeneWikii RECQL4.
    GenomeRNAii 9401.
    NextBioi 35219.
    PROi O94761.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_RECQL4.
    Genevestigatori O94761.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi 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.
    IPR027417. P-loop_NTPase.
    IPR001878. Znf_CCHC.
    [Graphical view ]
    Pfami PF00270. DEAD. 1 hit.
    PF11719. Drc1-Sld2. 1 hit.
    PF00271. Helicase_C. 1 hit.
    [Graphical view ]
    SMARTi SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00343. ZnF_C2HC. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 1 hit.
    TIGRFAMsi TIGR00614. recQ_fam. 1 hit.
    PROSITEi PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, INVOLVEMENT IN ROTHMUND-THOMSON SYNDROME.
    3. NIEHS SNPs program
      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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 468-1208.
      Tissue: Lymph and Placenta.
    5. 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] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RAPADILINOS.
    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] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH UBR1 AND UBR2, SUBCELLULAR LOCATION, FUNCTION, IDENTIFICATION BY MASS SPECTROMETRY.
    8. "MCM10 mediates RECQ4 association with MCM2-7 helicase complex during DNA replication."
      Xu X., Rochette P.J., Feyissa E.A., Su T.V., Liu Y.
      EMBO J. 28:3005-3014(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MCM10.
    9. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS ASP-267 AND GLN-1005.
    10. Cited for: VARIANTS GLN-355; SER-441 AND 857-CYS--THR-858 DEL.
    11. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT BGS TRP-1021, VARIANT THR-523.

    Entry informationi

    Entry nameiRECQ4_HUMAN
    AccessioniPrimary (citable) accession number: O94761
    Secondary accession number(s): Q3Y424, Q96DW2, Q96F55
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 142 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 8
      Human chromosome 8: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3