Q8NF50 (DOCK8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dedicator of cytokinesis protein 8

Gene names

Name:

DOCK8

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2099 AA.
Sequence status	Complete.
Protein existence	Evidence 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 adaptative 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.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Disease mutation Mental retardation
Molecular function	Guanine-nucleotide releasing factor
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	blood coagulation Traceable author statement. Source: Reactome small GTPase mediated signal transduction Inferred from electronic annotation. Source: InterPro
Cellular_component	cytosol Traceable author statement. Source: Reactome
Molecular_function	guanyl-nucleotide exchange factor activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2099	2099	Dedicator of cytokinesis protein 8		PRO_0000189997
Regions
	Domain	560 – 729	170	DHR-1
	Domain	1632 – 2066	435	DHR-2
Amino acid modifications
	Modified residue	451	1	Phosphoserine Ref.11 Ref.12
Natural variations
	Alternative sequence	1 – 68	68	Missing in isoform 3 and isoform 4.		VSP_039838
	Alternative sequence	927 – 958	32	Missing in isoform 2 and isoform 4.		VSP_027373
	Natural variant	97	1	P → T. Ref.1 Corresponds to variant rs529208 [ dbSNP | Ensembl ].		VAR_033888
	Natural variant	169	1	E → K. Corresponds to variant rs11789099 [ dbSNP | Ensembl ].		VAR_059972
	Natural variant	237	1	E → K. Corresponds to variant rs11789099 [ dbSNP | Ensembl ].		VAR_033889
	Natural variant	413	1	N → S. Ref.3 Corresponds to variant rs10970979 [ dbSNP | Ensembl ].		VAR_033890
	Natural variant	473	1	K → R in AR-HIES. Ref.14		VAR_063753
	Natural variant	597	1	A → V. Corresponds to variant rs17673268 [ dbSNP | Ensembl ].		VAR_033891
	Natural variant	1008	1	R → W. Corresponds to variant rs16937932 [ dbSNP | Ensembl ].		VAR_033892
	Natural variant	1970	1	A → P. Ref.8 Corresponds to variant rs34908836 [ dbSNP | Ensembl ].		VAR_033893
Experimental info
	Sequence conflict	22	1	A → V in BAE45254. Ref.1
	Sequence conflict	470	1	S → I in AAI30519. Ref.3
	Sequence conflict	470	1	S → I in AAI43930. Ref.3
	Sequence conflict	600	1	V → VV in CAI46160. Ref.4
	Sequence conflict	1751	1	V → F in BAB84907. Ref.6
	Sequence conflict	1755	1	V → F in BAB84907. Ref.6
	Sequence conflict	1927	1	Y → F in AAI30519. Ref.3
	Sequence conflict	1927	1	Y → F in AAI43930. Ref.3
	Sequence conflict	2029	1	E → K in AAG42221. Ref.8
	Sequence conflict	2046	1	L → F in AAG42221. Ref.8

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 21, 2007. Version 3. Checksum: AF651C26E2D8E73E	FASTA	2,099	238,529
	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
	Isoform 2 [UniParc]. Checksum: 63FB02FCA204E1C8	FASTA	2,067	235,185
	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 NIMSSKHFHE ELALQMVVST GMVRETVFKY AWFFFELLVK 970 980 990 1000 1010 1020 SMAQHVHNMD KRDSFRRTRF SDRFMDDITT IVNVVTSEIA ALLVKPQKEN EQAEKMNISL 1030 1040 1050 1060 1070 1080 AFFLYDLLSL MDRGFVFNLI RHYCSQLSAK LSNLPTLISM RLEFLRILCS HEHYLNLNLF 1090 1100 1110 1120 1130 1140 FMNADTAPTS PCPSISSQNS SSCSSFQDQK IASMFDLTSE YRQQHFLTGL LFTELAAALD 1150 1160 1170 1180 1190 1200 AEGEGISKVQ RKAVSAIHSL LSSHDLDPRC VKPEVKVKIA ALYLPLVGII LDALPQLCDF 1210 1220 1230 1240 1250 1260 TVADTRRYRT SGSDEEQEGA GAINQNVALA IAGNNFNLKT SGIVLSSLPY KQYNMLNADT 1270 1280 1290 1300 1310 1320 TRNLMICFLW IMKNADQSLI RKWIADLPST QLNRILDLLF ICVLCFEYKG KQSSDKVSTQ 1330 1340 1350 1360 1370 1380 VLQKSRDVKA RLEEALLRGE GARGEMMRRR APGNDRFPGL NENLRWKKEQ THWRQANEKL 1390 1400 1410 1420 1430 1440 DKTKAELDQE ALISGNLATE AHLIILDMQE NIIQASSALD CKDSLLGGVL RVLVNSLNCD 1450 1460 1470 1480 1490 1500 QSTTYLTHCF ATLRALIAKF GDLLFEEEVE QCFDLCHQVL HHCSSSMDVT RSQACATLYL 1510 1520 1530 1540 1550 1560 LMRFSFGATS NFARVKMQVT MSLASLVGRA PDFNEEHLRR SLRTILAYSE EDTAMQMTPF 1570 1580 1590 1600 1610 1620 PTQVEELLCN LNSILYDTVK MREFQEDPEM LMDLMYRIAK SYQASPDLRL TWLQNMAEKH 1630 1640 1650 1660 1670 1680 TKKKCYTEAA MCLVHAAALV AEYLSMLEDH SYLPVGSVSF QNISSNVLEE SVVSEDTLSP 1690 1700 1710 1720 1730 1740 DEDGVCAGQY FTESGLVGLL EQAAELFSTG GLYETVNEVY KLVIPILEAH REFRKLTLTH 1750 1760 1770 1780 1790 1800 SKLQRAFDSI VNKDHKRMFG TYFRVGFFGS KFGDLDEQEF VYKEPAITKL PEISHRLEAF 1810 1820 1830 1840 1850 1860 YGQCFGAEFV EVIKDSTPVD KTKLDPNKAY IQITFVEPYF DEYEMKDRVT YFEKNFNLRR 1870 1880 1890 1900 1910 1920 FMYTTPFTLE GRPRGELHEQ YRRNTVLTTM HAFPYIKTRI SVIQKEEFVL TPIEVAIEDM 1930 1940 1950 1960 1970 1980 KKKTLQLAVA INQEPPDAKM LQMVLQGSVG ATVNQGPLEV AQVFLAEIPA DPKLYRHHNK 1990 2000 2010 2020 2030 2040 LRLCFKEFIM RCGEAVEKNK RLITADQREY QQELKKNYNK LKENLRPMIE RKIPELYKPI 2050 2060 FRVESQKRDS FHRSSFRKCE TQLSQGS
	Isoform 3 [UniParc]. Checksum: 4BDDA98A79349281	FASTA	2,031	230,820
	10 20 30 40 50 60 MTHLNSLDVQ LAQELGDFTD DDLDVVFTPK ECRTLQPSLP EEGVELDPHV RDCVQTYIRE 70 80 90 100 110 120 WLIVNRKNQG SPEICGFKKT GSRKDFHKTL PKQTFESETL ECSEPAAQAG PRHLNVLCDV 130 140 150 160 170 180 SGKGPVTACD FDLRSLQPDK RLENLLQQVS AEDFEKQNEE ARRTNRQAEL FALYPSVDEE 190 200 210 220 230 240 DAVEIRPVPE CPKEHLGNRI LVKLLTLKFE IEIEPLFASI ALYDVKERKK ISENFHCDLN 250 260 270 280 290 300 SDQFKGFLRA HTPSVAASSQ ARSAVFSVTY PSSDIYLVVK IEKVLQQGEI GDCAEPYTVI 310 320 330 340 350 360 KESDGGKSKE KIEKLKLQAE SFCQRLGKYR MPFAWAPISL SSFFNVSTLE REVTDVDSVV 370 380 390 400 410 420 GRSSVGERRT LAQSRRLSER ALSLEENGVG SNFKTSTLSV SSFFKQEGDR LSDEDLFKFL 430 440 450 460 470 480 ADYKRSSSLQ RRVKSIPGLL RLEISTAPEI INCCLTPEML PVKPFPENRT RPHKEILEFP 490 500 510 520 530 540 TREVYVPHTV YRNLLYVYPQ RLNFVNKLAS ARNITIKIQF MCGEDASNAM PVIFGKSSGP 550 560 570 580 590 600 EFLQEVYTAV TYHNKSPDFY EEVKIKLPAK LTVNHHLLFT FYHISCQQKQ GASVETLLGY 610 620 630 640 650 660 SWLPILLNER LQTGSYCLPV ALEKLPPNYS MHSAEKVPLQ NPPIKWAEGH KGVFNIEVQA 670 680 690 700 710 720 VSSVHTQDNH LEKFFTLCHS LESQVTFPIR VLDQKISEMA LEHELKLSII CLNSSRLEPL 730 740 750 760 770 780 VLFLHLVLDK LFQLSVQPMV IAGQTANFSQ FAFESVVAIA NSLHNSKDLS KDQHGRNCLL 790 800 810 820 830 840 ASYVHYVFRL PEVQRDVPKS GAPTALLDPR SYHTYGRTSA AAVSSKLLQA RVMSSSNPDL 850 860 870 880 890 900 AGTHSAADEE VKNIMSSKIA DRNCSRMSYY CSGSSDAPSS PAAPRPASKK HFHEELALQM 910 920 930 940 950 960 VVSTGMVRET VFKYAWFFFE LLVKSMAQHV HNMDKRDSFR RTRFSDRFMD DITTIVNVVT 970 980 990 1000 1010 1020 SEIAALLVKP QKENEQAEKM NISLAFFLYD LLSLMDRGFV FNLIRHYCSQ LSAKLSNLPT 1030 1040 1050 1060 1070 1080 LISMRLEFLR ILCSHEHYLN LNLFFMNADT APTSPCPSIS SQNSSSCSSF QDQKIASMFD 1090 1100 1110 1120 1130 1140 LTSEYRQQHF LTGLLFTELA AALDAEGEGI SKVQRKAVSA IHSLLSSHDL DPRCVKPEVK 1150 1160 1170 1180 1190 1200 VKIAALYLPL VGIILDALPQ LCDFTVADTR RYRTSGSDEE QEGAGAINQN VALAIAGNNF 1210 1220 1230 1240 1250 1260 NLKTSGIVLS SLPYKQYNML NADTTRNLMI CFLWIMKNAD QSLIRKWIAD LPSTQLNRIL 1270 1280 1290 1300 1310 1320 DLLFICVLCF EYKGKQSSDK VSTQVLQKSR DVKARLEEAL LRGEGARGEM MRRRAPGNDR 1330 1340 1350 1360 1370 1380 FPGLNENLRW KKEQTHWRQA NEKLDKTKAE LDQEALISGN LATEAHLIIL DMQENIIQAS 1390 1400 1410 1420 1430 1440 SALDCKDSLL GGVLRVLVNS LNCDQSTTYL THCFATLRAL IAKFGDLLFE EEVEQCFDLC 1450 1460 1470 1480 1490 1500 HQVLHHCSSS MDVTRSQACA TLYLLMRFSF GATSNFARVK MQVTMSLASL VGRAPDFNEE 1510 1520 1530 1540 1550 1560 HLRRSLRTIL AYSEEDTAMQ MTPFPTQVEE LLCNLNSILY DTVKMREFQE DPEMLMDLMY 1570 1580 1590 1600 1610 1620 RIAKSYQASP DLRLTWLQNM AEKHTKKKCY TEAAMCLVHA AALVAEYLSM LEDHSYLPVG 1630 1640 1650 1660 1670 1680 SVSFQNISSN VLEESVVSED TLSPDEDGVC AGQYFTESGL VGLLEQAAEL FSTGGLYETV 1690 1700 1710 1720 1730 1740 NEVYKLVIPI LEAHREFRKL TLTHSKLQRA FDSIVNKDHK RMFGTYFRVG FFGSKFGDLD 1750 1760 1770 1780 1790 1800 EQEFVYKEPA ITKLPEISHR LEAFYGQCFG AEFVEVIKDS TPVDKTKLDP NKAYIQITFV 1810 1820 1830 1840 1850 1860 EPYFDEYEMK DRVTYFEKNF NLRRFMYTTP FTLEGRPRGE LHEQYRRNTV LTTMHAFPYI 1870 1880 1890 1900 1910 1920 KTRISVIQKE EFVLTPIEVA IEDMKKKTLQ LAVAINQEPP DAKMLQMVLQ GSVGATVNQG 1930 1940 1950 1960 1970 1980 PLEVAQVFLA EIPADPKLYR HHNKLRLCFK EFIMRCGEAV EKNKRLITAD QREYQQELKK 1990 2000 2010 2020 2030 NYNKLKENLR PMIERKIPEL YKPIFRVESQ KRDSFHRSSF RKCETQLSQG S
	Isoform 4 [UniParc]. Checksum: 9D0A9F61AD502256	FASTA	1,999	227,477
	10 20 30 40 50 60 MTHLNSLDVQ LAQELGDFTD DDLDVVFTPK ECRTLQPSLP EEGVELDPHV RDCVQTYIRE 70 80 90 100 110 120 WLIVNRKNQG SPEICGFKKT GSRKDFHKTL PKQTFESETL ECSEPAAQAG PRHLNVLCDV 130 140 150 160 170 180 SGKGPVTACD FDLRSLQPDK RLENLLQQVS AEDFEKQNEE ARRTNRQAEL FALYPSVDEE 190 200 210 220 230 240 DAVEIRPVPE CPKEHLGNRI LVKLLTLKFE IEIEPLFASI ALYDVKERKK ISENFHCDLN 250 260 270 280 290 300 SDQFKGFLRA HTPSVAASSQ ARSAVFSVTY PSSDIYLVVK IEKVLQQGEI GDCAEPYTVI 310 320 330 340 350 360 KESDGGKSKE KIEKLKLQAE SFCQRLGKYR MPFAWAPISL SSFFNVSTLE REVTDVDSVV 370 380 390 400 410 420 GRSSVGERRT LAQSRRLSER ALSLEENGVG SNFKTSTLSV SSFFKQEGDR LSDEDLFKFL 430 440 450 460 470 480 ADYKRSSSLQ RRVKSIPGLL RLEISTAPEI INCCLTPEML PVKPFPENRT RPHKEILEFP 490 500 510 520 530 540 TREVYVPHTV YRNLLYVYPQ RLNFVNKLAS ARNITIKIQF MCGEDASNAM PVIFGKSSGP 550 560 570 580 590 600 EFLQEVYTAV TYHNKSPDFY EEVKIKLPAK LTVNHHLLFT FYHISCQQKQ GASVETLLGY 610 620 630 640 650 660 SWLPILLNER LQTGSYCLPV ALEKLPPNYS MHSAEKVPLQ NPPIKWAEGH KGVFNIEVQA 670 680 690 700 710 720 VSSVHTQDNH LEKFFTLCHS LESQVTFPIR VLDQKISEMA LEHELKLSII CLNSSRLEPL 730 740 750 760 770 780 VLFLHLVLDK LFQLSVQPMV IAGQTANFSQ FAFESVVAIA NSLHNSKDLS KDQHGRNCLL 790 800 810 820 830 840 ASYVHYVFRL PEVQRDVPKS GAPTALLDPR SYHTYGRTSA AAVSSKLLQA RVMSSSNPDL 850 860 870 880 890 900 AGTHSAADEE VKNIMSSKHF HEELALQMVV STGMVRETVF KYAWFFFELL VKSMAQHVHN 910 920 930 940 950 960 MDKRDSFRRT RFSDRFMDDI TTIVNVVTSE IAALLVKPQK ENEQAEKMNI SLAFFLYDLL 970 980 990 1000 1010 1020 SLMDRGFVFN LIRHYCSQLS AKLSNLPTLI SMRLEFLRIL CSHEHYLNLN LFFMNADTAP 1030 1040 1050 1060 1070 1080 TSPCPSISSQ NSSSCSSFQD QKIASMFDLT SEYRQQHFLT GLLFTELAAA LDAEGEGISK 1090 1100 1110 1120 1130 1140 VQRKAVSAIH SLLSSHDLDP RCVKPEVKVK IAALYLPLVG IILDALPQLC DFTVADTRRY 1150 1160 1170 1180 1190 1200 RTSGSDEEQE GAGAINQNVA LAIAGNNFNL KTSGIVLSSL PYKQYNMLNA DTTRNLMICF 1210 1220 1230 1240 1250 1260 LWIMKNADQS LIRKWIADLP STQLNRILDL LFICVLCFEY KGKQSSDKVS TQVLQKSRDV 1270 1280 1290 1300 1310 1320 KARLEEALLR GEGARGEMMR RRAPGNDRFP GLNENLRWKK EQTHWRQANE KLDKTKAELD 1330 1340 1350 1360 1370 1380 QEALISGNLA TEAHLIILDM QENIIQASSA LDCKDSLLGG VLRVLVNSLN CDQSTTYLTH 1390 1400 1410 1420 1430 1440 CFATLRALIA KFGDLLFEEE VEQCFDLCHQ VLHHCSSSMD VTRSQACATL YLLMRFSFGA 1450 1460 1470 1480 1490 1500 TSNFARVKMQ VTMSLASLVG RAPDFNEEHL RRSLRTILAY SEEDTAMQMT PFPTQVEELL 1510 1520 1530 1540 1550 1560 CNLNSILYDT VKMREFQEDP EMLMDLMYRI AKSYQASPDL RLTWLQNMAE KHTKKKCYTE 1570 1580 1590 1600 1610 1620 AAMCLVHAAA LVAEYLSMLE DHSYLPVGSV SFQNISSNVL EESVVSEDTL SPDEDGVCAG 1630 1640 1650 1660 1670 1680 QYFTESGLVG LLEQAAELFS TGGLYETVNE VYKLVIPILE AHREFRKLTL THSKLQRAFD 1690 1700 1710 1720 1730 1740 SIVNKDHKRM FGTYFRVGFF GSKFGDLDEQ EFVYKEPAIT KLPEISHRLE AFYGQCFGAE 1750 1760 1770 1780 1790 1800 FVEVIKDSTP VDKTKLDPNK AYIQITFVEP YFDEYEMKDR VTYFEKNFNL RRFMYTTPFT 1810 1820 1830 1840 1850 1860 LEGRPRGELH EQYRRNTVLT TMHAFPYIKT RISVIQKEEF VLTPIEVAIE DMKKKTLQLA 1870 1880 1890 1900 1910 1920 VAINQEPPDA KMLQMVLQGS VGATVNQGPL EVAQVFLAEI PADPKLYRHH NKLRLCFKEF 1930 1940 1950 1960 1970 1980 IMRCGEAVEK NKRLITADQR EYQQELKKNY NKLKENLRPM IERKIPELYK PIFRVESQKR 1990 DSFHRSSFRK CETQLSQGS

References

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[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]	"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. , 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, MASS SPECTROMETRY.
[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, MASS SPECTROMETRY. 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.
IPI	IPI00797373. IPI00856108. IPI00942335. IPI00945909.
RefSeq	NP_001177387.1. NM_001190458.1. NP_001180465.1. NM_001193536.1. NP_982272.2. NM_203447.3.
UniGene	Hs.132599.
3D structure databases
ProteinModelPortal	Q8NF50.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NF50. 7 interactions.
MINT	MINT-1189381.
PTM databases
PhosphoSite	Q8NF50.
Polymorphism databases
DMDM	158937439.
Proteomic databases
PaxDb	Q8NF50.
PRIDE	Q8NF50.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000432829; ENSP00000394888; ENSG00000107099. ENST00000453981; ENSP00000408464; ENSG00000107099. ENST00000469391; ENSP00000419438; ENSG00000107099.
GeneID	81704.
KEGG	hsa:81704.
UCSC	uc003zgf.2. human.
Organism-specific databases
CTD	81704.
GeneCards	GC09P000263.
HGNC	HGNC:19191. DOCK8.
HPA	HPA003218.
MIM	243700. phenotype. 611432. gene. 614113. phenotype.
neXtProt	NX_Q8NF50.
Orphanet	178469. Autosomal dominant nonsyndromic intellectual deficit. 169446. Autosomal recessive hyper IgE syndrome. 217390. Severe combined immunodeficiency due to DOCK8 deficiency.
PharmGKB	PA134918866.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG242127.
HOVERGEN	HBG051390.
InParanoid	Q8NF50.
OMA	SVHTQDN.
OrthoDB	EOG42Z4P8.
Enzyme and pathway databases
Reactome	REACT_604. Hemostasis.
Gene expression databases
ArrayExpress	Q8NF50.
Bgee	Q8NF50.
Genevestigator	Q8NF50.
GermOnline	ENSG00000107099. Homo sapiens.
Family and domain databases
InterPro	IPR016024. ARM-type_fold. IPR027007. DHR-1_domain. IPR027357. DHR-2. IPR026791. DOCK. IPR010703. DOCK_C. IPR021816. DOCK_C/D_N. IPR026798. DOCK_C_fam. [Graphical view]
PANTHER	PTHR23317. PTHR23317. 1 hit. PTHR23317:SF27. PTHR23317:SF27. 1 hit.
Pfam	PF06920. Ded_cyto. 1 hit. PF14429. DOCK-C2. 1 hit. PF11878. DUF3398. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
PROSITE	PS51650. DHR_1. 1 hit. PS51651. DHR_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	81704.
NextBio	72063.
SOURCE	Search...

Entry information

Entry name

DOCK8_HUMAN

Accession

Primary (citable) accession number: Q8NF50
Secondary accession number(s): A2A350 , 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:	May 1, 2013
This is version 100 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.