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Q8NF50 (DOCK8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dedicator of cytokinesis protein 8
Gene names
Name:DOCK8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2099 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Domain

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

Involvement in disease

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. Ref.14

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. Ref.10

Sequence similarities

Belongs to the DOCK family.

Contains 1 DHR-1 domain.

Contains 1 DHR-2 domain.

Sequence caution

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

MYD88Q998363EBI-2548605,EBI-447677

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NF50-1)

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: Q8NF50-2)

The sequence of this isoform differs from the canonical sequence as follows:
     927-958: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8NF50-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.
Isoform 4 (identifier: Q8NF50-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-68: Missing.
     927-958: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 20992099Dedicator of cytokinesis protein 8
PRO_0000189997

Regions

Domain560 – 729170DHR-1
Domain1632 – 2066435DHR-2

Amino acid modifications

Modified residue4511Phosphoserine Ref.11 Ref.12

Natural variations

Alternative sequence1 – 6868Missing in isoform 3 and isoform 4.
VSP_039838
Alternative sequence927 – 95832Missing in isoform 2 and isoform 4.
VSP_027373
Natural variant971P → T. Ref.1
Corresponds to variant rs529208 [ dbSNP | Ensembl ].
VAR_033888
Natural variant1691E → K.
Corresponds to variant rs11789099 [ dbSNP | Ensembl ].
VAR_059972
Natural variant2371E → K.
Corresponds to variant rs11789099 [ dbSNP | Ensembl ].
VAR_033889
Natural variant4131N → S. Ref.3
Corresponds to variant rs10970979 [ dbSNP | Ensembl ].
VAR_033890
Natural variant4731K → R in AR-HIES. Ref.14
VAR_063753
Natural variant5971A → V.
Corresponds to variant rs17673268 [ dbSNP | Ensembl ].
VAR_033891
Natural variant10081R → W.
Corresponds to variant rs16937932 [ dbSNP | Ensembl ].
VAR_033892
Natural variant19701A → P. Ref.8
Corresponds to variant rs34908836 [ dbSNP | Ensembl ].
VAR_033893

Experimental info

Sequence conflict221A → V in BAE45254. Ref.1
Sequence conflict4701S → I in AAI30519. Ref.3
Sequence conflict4701S → I in AAI43930. Ref.3
Sequence conflict6001V → VV in CAI46160. Ref.4
Sequence conflict17511V → F in BAB84907. Ref.6
Sequence conflict17551V → F in BAB84907. Ref.6
Sequence conflict19271Y → F in AAI30519. Ref.3
Sequence conflict19271Y → F in AAI43930. Ref.3
Sequence conflict20291E → K in AAG42221. Ref.8
Sequence conflict20461L → F in AAG42221. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 21, 2007. Version 3.
Checksum: AF651C26E2D8E73E

FASTA2,099238,529
        10         20         30         40         50         60 
MATLPSAERR AFALKINRYS SAEIRKQFTL PPNLGQYHRQ SISTSGFPSL QLPQFYDPVE 

        70         80         90        100        110        120 
PVDFEGLLMT HLNSLDVQLA QELGDFTDDD LDVVFTPKEC RTLQPSLPEE GVELDPHVRD 

       130        140        150        160        170        180 
CVQTYIREWL IVNRKNQGSP EICGFKKTGS RKDFHKTLPK QTFESETLEC SEPAAQAGPR 

       190        200        210        220        230        240 
HLNVLCDVSG KGPVTACDFD LRSLQPDKRL ENLLQQVSAE DFEKQNEEAR RTNRQAELFA 

       250        260        270        280        290        300 
LYPSVDEEDA VEIRPVPECP KEHLGNRILV KLLTLKFEIE IEPLFASIAL YDVKERKKIS 

       310        320        330        340        350        360 
ENFHCDLNSD QFKGFLRAHT PSVAASSQAR SAVFSVTYPS SDIYLVVKIE KVLQQGEIGD 

       370        380        390        400        410        420 
CAEPYTVIKE SDGGKSKEKI EKLKLQAESF CQRLGKYRMP FAWAPISLSS FFNVSTLERE 

       430        440        450        460        470        480 
VTDVDSVVGR SSVGERRTLA QSRRLSERAL SLEENGVGSN FKTSTLSVSS FFKQEGDRLS 

       490        500        510        520        530        540 
DEDLFKFLAD YKRSSSLQRR VKSIPGLLRL EISTAPEIIN CCLTPEMLPV KPFPENRTRP 

       550        560        570        580        590        600 
HKEILEFPTR EVYVPHTVYR NLLYVYPQRL NFVNKLASAR NITIKIQFMC GEDASNAMPV 

       610        620        630        640        650        660 
IFGKSSGPEF LQEVYTAVTY HNKSPDFYEE VKIKLPAKLT VNHHLLFTFY HISCQQKQGA 

       670        680        690        700        710        720 
SVETLLGYSW LPILLNERLQ TGSYCLPVAL EKLPPNYSMH SAEKVPLQNP PIKWAEGHKG 

       730        740        750        760        770        780 
VFNIEVQAVS SVHTQDNHLE KFFTLCHSLE SQVTFPIRVL DQKISEMALE HELKLSIICL 

       790        800        810        820        830        840 
NSSRLEPLVL FLHLVLDKLF QLSVQPMVIA GQTANFSQFA FESVVAIANS LHNSKDLSKD 

       850        860        870        880        890        900 
QHGRNCLLAS YVHYVFRLPE VQRDVPKSGA PTALLDPRSY HTYGRTSAAA VSSKLLQARV 

       910        920        930        940        950        960 
MSSSNPDLAG THSAADEEVK NIMSSKIADR NCSRMSYYCS GSSDAPSSPA APRPASKKHF 

       970        980        990       1000       1010       1020 
HEELALQMVV STGMVRETVF KYAWFFFELL VKSMAQHVHN MDKRDSFRRT RFSDRFMDDI 

      1030       1040       1050       1060       1070       1080 
TTIVNVVTSE IAALLVKPQK ENEQAEKMNI SLAFFLYDLL SLMDRGFVFN LIRHYCSQLS 

      1090       1100       1110       1120       1130       1140 
AKLSNLPTLI SMRLEFLRIL CSHEHYLNLN LFFMNADTAP TSPCPSISSQ NSSSCSSFQD 

      1150       1160       1170       1180       1190       1200 
QKIASMFDLT SEYRQQHFLT GLLFTELAAA LDAEGEGISK VQRKAVSAIH SLLSSHDLDP 

      1210       1220       1230       1240       1250       1260 
RCVKPEVKVK IAALYLPLVG IILDALPQLC DFTVADTRRY RTSGSDEEQE GAGAINQNVA 

      1270       1280       1290       1300       1310       1320 
LAIAGNNFNL KTSGIVLSSL PYKQYNMLNA DTTRNLMICF LWIMKNADQS LIRKWIADLP 

      1330       1340       1350       1360       1370       1380 
STQLNRILDL LFICVLCFEY KGKQSSDKVS TQVLQKSRDV KARLEEALLR GEGARGEMMR 

      1390       1400       1410       1420       1430       1440 
RRAPGNDRFP GLNENLRWKK EQTHWRQANE KLDKTKAELD QEALISGNLA TEAHLIILDM 

      1450       1460       1470       1480       1490       1500 
QENIIQASSA LDCKDSLLGG VLRVLVNSLN CDQSTTYLTH CFATLRALIA KFGDLLFEEE 

      1510       1520       1530       1540       1550       1560 
VEQCFDLCHQ VLHHCSSSMD VTRSQACATL YLLMRFSFGA TSNFARVKMQ VTMSLASLVG 

      1570       1580       1590       1600       1610       1620 
RAPDFNEEHL RRSLRTILAY SEEDTAMQMT PFPTQVEELL CNLNSILYDT VKMREFQEDP 

      1630       1640       1650       1660       1670       1680 
EMLMDLMYRI AKSYQASPDL RLTWLQNMAE KHTKKKCYTE AAMCLVHAAA LVAEYLSMLE 

      1690       1700       1710       1720       1730       1740 
DHSYLPVGSV SFQNISSNVL EESVVSEDTL SPDEDGVCAG QYFTESGLVG LLEQAAELFS 

      1750       1760       1770       1780       1790       1800 
TGGLYETVNE VYKLVIPILE AHREFRKLTL THSKLQRAFD SIVNKDHKRM FGTYFRVGFF 

      1810       1820       1830       1840       1850       1860 
GSKFGDLDEQ EFVYKEPAIT KLPEISHRLE AFYGQCFGAE FVEVIKDSTP VDKTKLDPNK 

      1870       1880       1890       1900       1910       1920 
AYIQITFVEP YFDEYEMKDR VTYFEKNFNL RRFMYTTPFT LEGRPRGELH EQYRRNTVLT 

      1930       1940       1950       1960       1970       1980 
TMHAFPYIKT RISVIQKEEF VLTPIEVAIE DMKKKTLQLA VAINQEPPDA KMLQMVLQGS 

      1990       2000       2010       2020       2030       2040 
VGATVNQGPL EVAQVFLAEI PADPKLYRHH NKLRLCFKEF IMRCGEAVEK NKRLITADQR 

      2050       2060       2070       2080       2090 
EYQQELKKNY NKLKENLRPM IERKIPELYK PIFRVESQKR DSFHRSSFRK CETQLSQGS 

« Hide

Isoform 2 [UniParc].

Checksum: 63FB02FCA204E1C8
Show »

FASTA2,067235,185
Isoform 3 [UniParc].

Checksum: 4BDDA98A79349281
Show »

FASTA2,031230,820
Isoform 4 [UniParc].

Checksum: 9D0A9F61AD502256
Show »

FASTA1,999227,477

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Combined immunodeficiency associated with DOCK8 mutations."
Zhang Q., Davis J.C., Lamborn I.T., Freeman A.F., Jing H., Favreau A.J., Matthews H.F., Davis J., Turner M.L., Uzel G., Holland S.M., Su H.C.
N. Engl. J. Med. 361:2046-2055(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT AR-HIES ARG-473.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001177387.1. NM_001190458.1.
NP_001180465.1. NM_001193536.1.
NP_982272.2. NM_203447.3.
UniGeneHs.132599.

3D structure databases

ProteinModelPortalQ8NF50.
SMRQ8NF50. Positions 560-729, 1636-2065.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123577. 12 interactions.
IntActQ8NF50. 22 interactions.
MINTMINT-1189381.

PTM databases

PhosphoSiteQ8NF50.

Polymorphism databases

DMDM158937439.

Proteomic databases

PaxDbQ8NF50.
PRIDEQ8NF50.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000432829; ENSP00000394888; ENSG00000107099. [Q8NF50-3]
ENST00000453981; ENSP00000408464; ENSG00000107099. [Q8NF50-1]
ENST00000469391; ENSP00000419438; ENSG00000107099. [Q8NF50-4]
GeneID81704.
KEGGhsa:81704.
UCSCuc003zgf.2. human. [Q8NF50-1]

Organism-specific databases

CTD81704.
GeneCardsGC09P000263.
HGNCHGNC:19191. DOCK8.
HPAHPA003218.
MIM243700. phenotype.
611432. gene.
614113. phenotype.
neXtProtNX_Q8NF50.
Orphanet178469. Autosomal dominant nonsyndromic intellectual deficit.
169446. Autosomal recessive hyper-IgE syndrome.
217390. Combined immunodeficiency due to DOCK8 deficiency.
PharmGKBPA134918866.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG242127.
HOVERGENHBG051390.
InParanoidQ8NF50.
OMASVHTQDN.
OrthoDBEOG7P8P7G.
PhylomeDBQ8NF50.
TreeFamTF313629.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ8NF50.
BgeeQ8NF50.
GenevestigatorQ8NF50.

Family and domain databases

InterProIPR016024. ARM-type_fold.
IPR027007. DHR-1_domain.
IPR027357. DHR-2.
IPR026791. DOCK.
IPR026798. DOCK6/DOCK8.
IPR010703. DOCK_C.
IPR021816. DOCK_C/D_N.
[Graphical view]
PANTHERPTHR23317. PTHR23317. 1 hit.
PTHR23317:SF27. PTHR23317:SF27. 1 hit.
PfamPF06920. Ded_cyto. 1 hit.
PF14429. DOCK-C2. 1 hit.
PF11878. DUF3398. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
PROSITEPS51650. DHR_1. 1 hit.
PS51651. DHR_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDock8.
GenomeRNAi81704.
NextBio72063.
PROQ8NF50.
SOURCESearch...

Entry information

Entry nameDOCK8_HUMAN
AccessionPrimary (citable) accession number: Q8NF50
Secondary accession number(s): A2A350 expand/collapse secondary AC list , A2BDF2, A4FU78, B7ZLP0, E9PH09, Q3MV16, Q5JPJ1, Q8TEP1, Q8WUY2, Q9BYJ5, Q9H1Q2, Q9H1Q3, Q9H308, Q9H7P2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 3, 2003
Last sequence update: August 21, 2007
Last modified: April 16, 2014
This is version 109 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

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