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Q8NF50

- DOCK8_HUMAN

UniProt

Q8NF50 - DOCK8_HUMAN

Protein

Dedicator of cytokinesis protein 8

Gene

DOCK8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 3 (21 Aug 2007)
      Previous versions | rss
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    Functioni

    Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP By similarity.By similarity

    GO - Molecular functioni

    1. guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
    2. protein binding Source: IntAct

    GO - Biological processi

    1. blood coagulation Source: Reactome
    2. memory T cell proliferation Source: MGI
    3. small GTPase mediated signal transduction Source: InterPro

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Enzyme and pathway databases

    ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dedicator of cytokinesis protein 8
    Gene namesi
    Name:DOCK8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:19191. DOCK8.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. membrane Source: UniProtKB

    Pathology & Biotechi

    Involvement in diseasei

    Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES) [MIM:243700]: A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti473 – 4731K → R in AR-HIES. 1 Publication
    VAR_063753
    Mental retardation, autosomal dominant 2 (MRD2) [MIM:614113]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.1 Publication
    Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration disrupting DOCK8 has been found in a patient with mental retardation and ectodermal dysplasia. A balanced translocation, t(X;9) (q13.1;p24). A genomic deletion of approximately 230 kb in subtelomeric 9p has been detected in a patient with mental retardation.

    Keywords - Diseasei

    Disease mutation, Mental retardation

    Organism-specific databases

    MIMi243700. phenotype.
    614113. phenotype.
    Orphaneti178469. Autosomal dominant nonsyndromic intellectual disability.
    169446. Autosomal recessive hyper-IgE syndrome.
    217390. Combined immunodeficiency due to DOCK8 deficiency.
    PharmGKBiPA134918866.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 20992099Dedicator of cytokinesis protein 8PRO_0000189997Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei451 – 4511Phosphoserine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8NF50.
    PaxDbiQ8NF50.
    PRIDEiQ8NF50.

    PTM databases

    PhosphoSiteiQ8NF50.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8NF50.
    BgeeiQ8NF50.
    GenevestigatoriQ8NF50.

    Organism-specific databases

    HPAiHPA003218.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MYD88Q998363EBI-2548605,EBI-447677

    Protein-protein interaction databases

    BioGridi123577. 12 interactions.
    IntActiQ8NF50. 22 interactions.
    MINTiMINT-1189381.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NF50.
    SMRiQ8NF50. Positions 1636-2065.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini560 – 729170DHR-1Add
    BLAST
    Domaini1632 – 2066435DHR-2Add
    BLAST

    Domaini

    The DHR-2 domain may mediate some GEF activity.By similarity

    Sequence similaritiesi

    Belongs to the DOCK family.Curated
    Contains 1 DHR-1 domain.Curated
    Contains 1 DHR-2 domain.Curated

    Phylogenomic databases

    eggNOGiNOG242127.
    HOVERGENiHBG051390.
    InParanoidiQ8NF50.
    OMAiQDNHLEK.
    OrthoDBiEOG7P8P7G.
    PhylomeDBiQ8NF50.
    TreeFamiTF313629.

    Family and domain databases

    InterProiIPR016024. ARM-type_fold.
    IPR027007. DHR-1_domain.
    IPR027357. DHR-2.
    IPR026791. DOCK.
    IPR010703. DOCK_C.
    IPR021816. DOCK_C/D_N.
    [Graphical view]
    PANTHERiPTHR23317. PTHR23317. 1 hit.
    PfamiPF06920. Ded_cyto. 1 hit.
    PF14429. DOCK-C2. 1 hit.
    PF11878. DUF3398. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 1 hit.
    PROSITEiPS51650. DHR_1. 1 hit.
    PS51651. DHR_2. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NF50-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MATLPSAERR AFALKINRYS SAEIRKQFTL PPNLGQYHRQ SISTSGFPSL     50
    QLPQFYDPVE PVDFEGLLMT HLNSLDVQLA QELGDFTDDD LDVVFTPKEC 100
    RTLQPSLPEE GVELDPHVRD CVQTYIREWL IVNRKNQGSP EICGFKKTGS 150
    RKDFHKTLPK QTFESETLEC SEPAAQAGPR HLNVLCDVSG KGPVTACDFD 200
    LRSLQPDKRL ENLLQQVSAE DFEKQNEEAR RTNRQAELFA LYPSVDEEDA 250
    VEIRPVPECP KEHLGNRILV KLLTLKFEIE IEPLFASIAL YDVKERKKIS 300
    ENFHCDLNSD QFKGFLRAHT PSVAASSQAR SAVFSVTYPS SDIYLVVKIE 350
    KVLQQGEIGD CAEPYTVIKE SDGGKSKEKI EKLKLQAESF CQRLGKYRMP 400
    FAWAPISLSS FFNVSTLERE VTDVDSVVGR SSVGERRTLA QSRRLSERAL 450
    SLEENGVGSN FKTSTLSVSS FFKQEGDRLS DEDLFKFLAD YKRSSSLQRR 500
    VKSIPGLLRL EISTAPEIIN CCLTPEMLPV KPFPENRTRP HKEILEFPTR 550
    EVYVPHTVYR NLLYVYPQRL NFVNKLASAR NITIKIQFMC GEDASNAMPV 600
    IFGKSSGPEF LQEVYTAVTY HNKSPDFYEE VKIKLPAKLT VNHHLLFTFY 650
    HISCQQKQGA SVETLLGYSW LPILLNERLQ TGSYCLPVAL EKLPPNYSMH 700
    SAEKVPLQNP PIKWAEGHKG VFNIEVQAVS SVHTQDNHLE KFFTLCHSLE 750
    SQVTFPIRVL DQKISEMALE HELKLSIICL NSSRLEPLVL FLHLVLDKLF 800
    QLSVQPMVIA GQTANFSQFA FESVVAIANS LHNSKDLSKD QHGRNCLLAS 850
    YVHYVFRLPE VQRDVPKSGA PTALLDPRSY HTYGRTSAAA VSSKLLQARV 900
    MSSSNPDLAG THSAADEEVK NIMSSKIADR NCSRMSYYCS GSSDAPSSPA 950
    APRPASKKHF HEELALQMVV STGMVRETVF KYAWFFFELL VKSMAQHVHN 1000
    MDKRDSFRRT RFSDRFMDDI TTIVNVVTSE IAALLVKPQK ENEQAEKMNI 1050
    SLAFFLYDLL SLMDRGFVFN LIRHYCSQLS AKLSNLPTLI SMRLEFLRIL 1100
    CSHEHYLNLN LFFMNADTAP TSPCPSISSQ NSSSCSSFQD QKIASMFDLT 1150
    SEYRQQHFLT GLLFTELAAA LDAEGEGISK VQRKAVSAIH SLLSSHDLDP 1200
    RCVKPEVKVK IAALYLPLVG IILDALPQLC DFTVADTRRY RTSGSDEEQE 1250
    GAGAINQNVA LAIAGNNFNL KTSGIVLSSL PYKQYNMLNA DTTRNLMICF 1300
    LWIMKNADQS LIRKWIADLP STQLNRILDL LFICVLCFEY KGKQSSDKVS 1350
    TQVLQKSRDV KARLEEALLR GEGARGEMMR RRAPGNDRFP GLNENLRWKK 1400
    EQTHWRQANE KLDKTKAELD QEALISGNLA TEAHLIILDM QENIIQASSA 1450
    LDCKDSLLGG VLRVLVNSLN CDQSTTYLTH CFATLRALIA KFGDLLFEEE 1500
    VEQCFDLCHQ VLHHCSSSMD VTRSQACATL YLLMRFSFGA TSNFARVKMQ 1550
    VTMSLASLVG RAPDFNEEHL RRSLRTILAY SEEDTAMQMT PFPTQVEELL 1600
    CNLNSILYDT VKMREFQEDP EMLMDLMYRI AKSYQASPDL RLTWLQNMAE 1650
    KHTKKKCYTE AAMCLVHAAA LVAEYLSMLE DHSYLPVGSV SFQNISSNVL 1700
    EESVVSEDTL SPDEDGVCAG QYFTESGLVG LLEQAAELFS TGGLYETVNE 1750
    VYKLVIPILE AHREFRKLTL THSKLQRAFD SIVNKDHKRM FGTYFRVGFF 1800
    GSKFGDLDEQ EFVYKEPAIT KLPEISHRLE AFYGQCFGAE FVEVIKDSTP 1850
    VDKTKLDPNK AYIQITFVEP YFDEYEMKDR VTYFEKNFNL RRFMYTTPFT 1900
    LEGRPRGELH EQYRRNTVLT TMHAFPYIKT RISVIQKEEF VLTPIEVAIE 1950
    DMKKKTLQLA VAINQEPPDA KMLQMVLQGS VGATVNQGPL EVAQVFLAEI 2000
    PADPKLYRHH NKLRLCFKEF IMRCGEAVEK NKRLITADQR EYQQELKKNY 2050
    NKLKENLRPM IERKIPELYK PIFRVESQKR DSFHRSSFRK CETQLSQGS 2099
    Length:2,099
    Mass (Da):238,529
    Last modified:August 21, 2007 - v3
    Checksum:iAF651C26E2D8E73E
    GO
    Isoform 2 (identifier: Q8NF50-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         927-958: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:2,067
    Mass (Da):235,185
    Checksum:i63FB02FCA204E1C8
    GO
    Isoform 3 (identifier: Q8NF50-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-68: Missing.

    Show »
    Length:2,031
    Mass (Da):230,820
    Checksum:i4BDDA98A79349281
    GO
    Isoform 4 (identifier: Q8NF50-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-68: Missing.
         927-958: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,999
    Mass (Da):227,477
    Checksum:i9D0A9F61AD502256
    GO

    Sequence cautioni

    The sequence AAG42221.1 differs from that shown. Reason: Frameshift at positions 2067 and 2083.
    The sequence BAB84907.1 differs from that shown. Reason: Frameshift at position 1956.
    The sequence CAI46160.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti22 – 221A → V in BAE45254. 1 PublicationCurated
    Sequence conflicti470 – 4701S → I in AAI30519. (PubMed:15489334)Curated
    Sequence conflicti470 – 4701S → I in AAI43930. (PubMed:15489334)Curated
    Sequence conflicti600 – 6001V → VV in CAI46160. (PubMed:17974005)Curated
    Sequence conflicti1751 – 17511V → F in BAB84907. 1 PublicationCurated
    Sequence conflicti1755 – 17551V → F in BAB84907. 1 PublicationCurated
    Sequence conflicti1927 – 19271Y → F in AAI30519. (PubMed:15489334)Curated
    Sequence conflicti1927 – 19271Y → F in AAI43930. (PubMed:15489334)Curated
    Sequence conflicti2029 – 20291E → K in AAG42221. (PubMed:10729223)Curated
    Sequence conflicti2046 – 20461L → F in AAG42221. (PubMed:10729223)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti97 – 971P → T.1 Publication
    Corresponds to variant rs529208 [ dbSNP | Ensembl ].
    VAR_033888
    Natural varianti169 – 1691E → K.
    Corresponds to variant rs11789099 [ dbSNP | Ensembl ].
    VAR_059972
    Natural varianti237 – 2371E → K.
    Corresponds to variant rs11789099 [ dbSNP | Ensembl ].
    VAR_033889
    Natural varianti413 – 4131N → S.1 Publication
    Corresponds to variant rs10970979 [ dbSNP | Ensembl ].
    VAR_033890
    Natural varianti473 – 4731K → R in AR-HIES. 1 Publication
    VAR_063753
    Natural varianti597 – 5971A → V.
    Corresponds to variant rs17673268 [ dbSNP | Ensembl ].
    VAR_033891
    Natural varianti1008 – 10081R → W.
    Corresponds to variant rs16937932 [ dbSNP | Ensembl ].
    VAR_033892
    Natural varianti1970 – 19701A → P.1 Publication
    Corresponds to variant rs34908836 [ dbSNP | Ensembl ].
    VAR_033893

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6868Missing in isoform 3 and isoform 4. 1 PublicationVSP_039838Add
    BLAST
    Alternative sequencei927 – 95832Missing in isoform 2 and isoform 4. 1 PublicationVSP_027373Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB191037 mRNA. Translation: BAE45254.1.
    AL158832, AL161725 Genomic DNA. Translation: CAM22536.1.
    AL161725, AL158832 Genomic DNA. Translation: CAM13234.1.
    BC019102 mRNA. Translation: AAH19102.2.
    BC112894 mRNA. Translation: AAI12895.1.
    BC130518 mRNA. Translation: AAI30519.1.
    BC143929 mRNA. Translation: AAI43930.1.
    AL583913 mRNA. Translation: CAC29497.1.
    AL832270 mRNA. Translation: CAI46160.1. Different initiation.
    AK090429 mRNA. Translation: BAC03410.1.
    AK074081 mRNA. Translation: BAB84907.1. Frameshift.
    AK024436 mRNA. Translation: BAB15726.1.
    AF194407 mRNA. Translation: AAG42221.1. Frameshift.
    CCDSiCCDS55283.1. [Q8NF50-3]
    CCDS55284.1. [Q8NF50-4]
    CCDS6440.2. [Q8NF50-1]
    RefSeqiNP_001177387.1. NM_001190458.1. [Q8NF50-4]
    NP_001180465.1. NM_001193536.1. [Q8NF50-3]
    NP_982272.2. NM_203447.3. [Q8NF50-1]
    UniGeneiHs.132599.

    Genome annotation databases

    EnsembliENST00000432829; ENSP00000394888; ENSG00000107099. [Q8NF50-3]
    ENST00000453981; ENSP00000408464; ENSG00000107099. [Q8NF50-1]
    ENST00000469391; ENSP00000419438; ENSG00000107099. [Q8NF50-4]
    GeneIDi81704.
    KEGGihsa:81704.
    UCSCiuc003zgf.2. human. [Q8NF50-1]

    Polymorphism databases

    DMDMi158937439.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB191037 mRNA. Translation: BAE45254.1 .
    AL158832 , AL161725 Genomic DNA. Translation: CAM22536.1 .
    AL161725 , AL158832 Genomic DNA. Translation: CAM13234.1 .
    BC019102 mRNA. Translation: AAH19102.2 .
    BC112894 mRNA. Translation: AAI12895.1 .
    BC130518 mRNA. Translation: AAI30519.1 .
    BC143929 mRNA. Translation: AAI43930.1 .
    AL583913 mRNA. Translation: CAC29497.1 .
    AL832270 mRNA. Translation: CAI46160.1 . Different initiation.
    AK090429 mRNA. Translation: BAC03410.1 .
    AK074081 mRNA. Translation: BAB84907.1 . Frameshift.
    AK024436 mRNA. Translation: BAB15726.1 .
    AF194407 mRNA. Translation: AAG42221.1 . Frameshift.
    CCDSi CCDS55283.1. [Q8NF50-3 ]
    CCDS55284.1. [Q8NF50-4 ]
    CCDS6440.2. [Q8NF50-1 ]
    RefSeqi NP_001177387.1. NM_001190458.1. [Q8NF50-4 ]
    NP_001180465.1. NM_001193536.1. [Q8NF50-3 ]
    NP_982272.2. NM_203447.3. [Q8NF50-1 ]
    UniGenei Hs.132599.

    3D structure databases

    ProteinModelPortali Q8NF50.
    SMRi Q8NF50. Positions 1636-2065.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123577. 12 interactions.
    IntActi Q8NF50. 22 interactions.
    MINTi MINT-1189381.

    PTM databases

    PhosphoSitei Q8NF50.

    Polymorphism databases

    DMDMi 158937439.

    Proteomic databases

    MaxQBi Q8NF50.
    PaxDbi Q8NF50.
    PRIDEi Q8NF50.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000432829 ; ENSP00000394888 ; ENSG00000107099 . [Q8NF50-3 ]
    ENST00000453981 ; ENSP00000408464 ; ENSG00000107099 . [Q8NF50-1 ]
    ENST00000469391 ; ENSP00000419438 ; ENSG00000107099 . [Q8NF50-4 ]
    GeneIDi 81704.
    KEGGi hsa:81704.
    UCSCi uc003zgf.2. human. [Q8NF50-1 ]

    Organism-specific databases

    CTDi 81704.
    GeneCardsi GC09P000263.
    HGNCi HGNC:19191. DOCK8.
    HPAi HPA003218.
    MIMi 243700. phenotype.
    611432. gene.
    614113. phenotype.
    neXtProti NX_Q8NF50.
    Orphaneti 178469. Autosomal dominant nonsyndromic intellectual disability.
    169446. Autosomal recessive hyper-IgE syndrome.
    217390. Combined immunodeficiency due to DOCK8 deficiency.
    PharmGKBi PA134918866.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG242127.
    HOVERGENi HBG051390.
    InParanoidi Q8NF50.
    OMAi QDNHLEK.
    OrthoDBi EOG7P8P7G.
    PhylomeDBi Q8NF50.
    TreeFami TF313629.

    Enzyme and pathway databases

    Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

    Miscellaneous databases

    GeneWikii Dock8.
    GenomeRNAii 81704.
    NextBioi 72063.
    PROi Q8NF50.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NF50.
    Bgeei Q8NF50.
    Genevestigatori Q8NF50.

    Family and domain databases

    InterProi IPR016024. ARM-type_fold.
    IPR027007. DHR-1_domain.
    IPR027357. DHR-2.
    IPR026791. DOCK.
    IPR010703. DOCK_C.
    IPR021816. DOCK_C/D_N.
    [Graphical view ]
    PANTHERi PTHR23317. PTHR23317. 1 hit.
    Pfami PF06920. Ded_cyto. 1 hit.
    PF14429. DOCK-C2. 1 hit.
    PF11878. DUF3398. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 1 hit.
    PROSITEi PS51650. DHR_1. 1 hit.
    PS51651. DHR_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "DOCK8, a candidate tumor suppressor gene."
      Takahashi K., Kohno T., Yokota J.
      Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-97.
      Tissue: Lung.
    2. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 3 AND 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-2099 (ISOFORM 2), VARIANT SER-413.
      Tissue: Brain, Muscle and Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 53-2099 (ISOFORM 1).
      Tissue: Lymph node.
    5. "Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones."
      Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N., Ohara O.
      DNA Res. 10:49-57(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 301-2099 (ISOFORM 1).
      Tissue: Spleen.
    6. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
      Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.
      Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 591-2099 (ISOFORM 1).
      Tissue: Spleen.
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 920-2099 (ISOFORM 1).
      Tissue: Spleen.
    8. "The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain."
      Ottolenghi C., Veitia R., Quintana-Murci L., Torchard D., Scapoli L., Souleyreau-Therville N., Beckmann J., Fellous M., McElreavey K.
      Genomics 64:170-178(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1775-2099, VARIANT PRO-1970.
    9. "Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity."
      Cote J.-F., Vuori K.
      J. Cell Sci. 115:4901-4913(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NOMENCLATURE.
    10. "Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities."
      Griggs B.L., Ladd S., Saul R.A., DuPont B.R., Srivastava A.K.
      Genomics 91:195-202(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHROMOSOMAL TRANSLOCATION, INVOLVEMENT IN MRD2.
    11. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-451, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-451, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: VARIANT AR-HIES ARG-473.

    Entry informationi

    Entry nameiDOCK8_HUMAN
    AccessioniPrimary (citable) accession number: Q8NF50
    Secondary accession number(s): A2A350
    , A2BDF2, A4FU78, B7ZLP0, E9PH09, Q3MV16, Q5JPJ1, Q8TEP1, Q8WUY2, Q9BYJ5, Q9H1Q2, Q9H1Q3, Q9H308, Q9H7P2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 3, 2003
    Last sequence update: August 21, 2007
    Last modified: October 1, 2014
    This is version 114 of the entry and version 3 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3