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Q8NF50

- DOCK8_HUMAN

UniProt

Q8NF50 - DOCK8_HUMAN

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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

Functioni

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.
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.1 Publication

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.

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.
Contains 1 DHR-1 domain.
Contains 1 DHR-2 domain.

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.

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. VSP_039838Add
BLAST
Alternative sequencei927 – 95832Missing in isoform 2 and isoform 4. VSP_027373Add
BLAST

Sequence conflict

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

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 113 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

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