Q96DT5 (DYH11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dynein heavy chain 11, axonemal

Alternative name(s):
Axonemal beta dynein heavy chain 11
Ciliary dynein heavy chain 11

Gene names

Name:

DNAH11

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	4523 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.
Subunit structure	Consists of at least two heavy chains and a number of intermediate and light chains.
Subcellular location	Cytoplasm › cytoskeleton › cilium axoneme.
Domain	Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.
Involvement in disease	Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4 Primary ciliary dyskinesia 7 (CILD7) [MIM:611884]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4
Sequence similarities	Belongs to the dynein heavy chain family.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Dynein Microtubule
Coding sequence diversity	Polymorphism
Disease	Ciliopathy Disease mutation Kartagener syndrome Primary ciliary dyskinesia
Domain	Coiled coil Repeat
Ligand	ATP-binding Nucleotide-binding
Molecular function	Motor protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ATP catabolic process Inferred from electronic annotation. Source: GOC ciliary or flagellar motility Inferred from electronic annotation. Source: Compara determination of left/right symmetry Inferred from electronic annotation. Source: Compara microtubule-based movement Inferred from electronic annotation. Source: InterPro
Cellular_component	axonemal dynein complex Non-traceable author statement. Source: UniProtKB cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell microtubule Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATPase activity Inferred from electronic annotation. Source: InterPro microtubule motor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 4523	4523	Dynein heavy chain 11, axonemal		PRO_0000114633
Regions
	Nucleotide binding	1900 – 1907	8	ATP Potential
	Nucleotide binding	2181 – 2188	8	ATP Potential
	Nucleotide binding	2517 – 2524	8	ATP Potential
	Nucleotide binding	2862 – 2869	8	ATP Potential
	Region	1 – 1861	1861	Stem By similarity
	Region	1862 – 2083	222	AAA 1 By similarity
	Region	2143 – 2373	231	AAA 2 By similarity
	Region	2479 – 2726	248	AAA 3 By similarity
	Region	2824 – 3073	250	AAA 4 By similarity
	Region	3079 – 3410	332	Stalk By similarity
	Region	3466 – 3693	228	AAA 5 By similarity
	Region	3903 – 4129	227	AAA 6 By similarity
	Coiled coil	1274 – 1327	54	Potential
	Coiled coil	3079 – 3143	65	Potential
	Coiled coil	3319 – 3410	92	Potential
	Coiled coil	3675 – 3710	36	Potential
Natural variations
	Natural variant	34	1	E → L Requires 2 nucleotide substitutions. Ref.1		VAR_013851
	Natural variant	34	1	E → V. Corresponds to variant rs2285944 [ dbSNP | Ensembl ].		VAR_042944
	Natural variant	639	1	Q → R. Ref.1 Corresponds to variant rs12670130 [ dbSNP | Ensembl ].		VAR_013852
	Natural variant	654	1	S → C. Ref.1		VAR_013853
	Natural variant	1023	1	V → A. Ref.1 Ref.4 Corresponds to variant rs10269582 [ dbSNP | Ensembl ].		VAR_013854
	Natural variant	1038	1	T → A. Ref.1 Ref.4 Corresponds to variant rs10224537 [ dbSNP | Ensembl ].		VAR_013855
	Natural variant	1316	1	M → V. Corresponds to variant rs17144788 [ dbSNP | Ensembl ].		VAR_042945
	Natural variant	1640	1	D → G. Ref.1 Corresponds to variant rs17144835 [ dbSNP | Ensembl ].		VAR_013856
	Natural variant	2593	1	Y → H. Corresponds to variant rs2003417 [ dbSNP | Ensembl ].		VAR_060141
	Natural variant	2641	1	S → N. Ref.1 Ref.4 Corresponds to variant rs9639393 [ dbSNP | Ensembl ].		VAR_013857
	Natural variant	2682	1	I → V.		VAR_013858
	Natural variant	3004	1	R → Q in CILD7; not proven to be pathogenic. Ref.1 Corresponds to variant rs35865357 [ dbSNP | Ensembl ].		VAR_013859
	Natural variant	3474	1	A → T. Ref.1 Corresponds to variant rs2214326 [ dbSNP | Ensembl ].		VAR_013860
	Natural variant	3715	1	L → V. Ref.1 Ref.4 Corresponds to variant rs4722064 [ dbSNP | Ensembl ].		VAR_013861
	Natural variant	3765	1	S → P. Ref.1 Corresponds to variant rs17145720 [ dbSNP | Ensembl ].		VAR_013862
	Natural variant	4172	1	M → V. Ref.1 Ref.4 Corresponds to variant rs6461613 [ dbSNP | Ensembl ].		VAR_042946
	Natural variant	4177	1	T → I. Ref.1 Ref.4 Corresponds to variant rs12537531 [ dbSNP | Ensembl ].		VAR_013863

Sequences

	Sequence		Length	Mass (Da)
	Q96DT5 [UniParc]. Last modified November 2, 2010. Version 3. Checksum: 9407A3DBDD1AC86E	FASTA	4,523	521,043
	10 20 30 40 50 60 MAAQVAAREA RDFREAPTLR LTSGAGLEAV GAVELEEEEE NEEEAAARRA RSFAQDARVR 70 80 90 100 110 120 FLGGRLAMML GFTEEKWSQY LESEDNRQVL GEFLESTSPA CLVFSFAASG RLAASQEIPR 130 140 150 160 170 180 DANHKLVFIS KKITESIGVN DFSQVVLFGE LPALSLGHVS AFLDEILVPV LSNKNNHKSW 190 200 210 220 230 240 SCFTSQDMEY HIEVMKKKMY IFRGKMSRRT LLPIPTVAGK MDLDQNCSEN KPPSNERIIL 250 260 270 280 290 300 HAIESVVIEW SHQIQEIIER DSVQRLLNGL HLSPQAELDF WMMRRENLSC IYDQLQAPVV 310 320 330 340 350 360 LKMVKILTTK QSSYFPTLKD IFLAVENALL EAQDVELYLR PLRRHIQCLQ ETEFPQTRIL 370 380 390 400 410 420 IAPLFHTICL IWSHSKFYNT PARVIVLLQE FCNLFINQAT AYLSPEDLLR GEIEESLEKV 430 440 450 460 470 480 QVAVNILKTF KNSFFNYRKK LASYFMGRKL RPWDFQSHLV FCRFDKFLDR LIKIEDIFAT 490 500 510 520 530 540 TLEFEKLERL EFGGTKGAIL NGQVHEMSEE LMELCKLFKQ STYDPSDCTN MEFESDYVAF 550 560 570 580 590 600 KSKTLEFDRR LGTIICEAFF NCNGLEAAFK LLTIFGNFLE KPVVMEIFSL HYSTLVHMFN 610 620 630 640 650 660 TELDVCKQLY NEHMKQIECG HVVLNKNMPF TSGNMKWAQQ VLQRLQMFWS NFASLRYLFL 670 680 690 700 710 720 GNPDHALVYQ KYVEMTTLLD QFESRIYNEW KSNVDEICEF NLNQPLVKFS AINGLLCVNF 730 740 750 760 770 780 DPKLVAVLRE VKYLLMLKKQ DIPDSALAIF KKRNTILKYI GNLDLLVQGY NKLKQTLLEV 790 800 810 820 830 840 EYPLIEDELR AIDEQLTAAT TWLTWQDDCW GYIERVRAAT SELEHRVERT QKNVKVIQQT 850 860 870 880 890 900 MRGWARCVLP PRREHRREAA FTLEDKGDLF TKKYKLIQGD GCKIHNLVEE NRKLFKANPS 910 920 930 940 950 960 LDTWKIYVEF IDDIVVEGFF QAIMHDLDFF LKNTEKQLKP APFFQAQMIL LPPEIVFKPS 970 980 990 1000 1010 1020 LDREAGDGFY DLVEEMLCNS FRMSAQMNRI ATHLEIKNYQ NDMDNMLGLA EVRQEIMNRV 1030 1040 1050 1060 1070 1080 VNVINKVLDF RNTLETHTYL WVDDRAEFMK HFLLYGHAVS SDEMDAHANE EIPEQPPTLE 1090 1100 1110 1120 1130 1140 QFKEQIDIYE ALYVQMSKFE DFRVFDSWFK VDMKPFKVSL LTIIKKWSWM FQEHLLRFVI 1150 1160 1170 1180 1190 1200 DSLNELQEFI KETDSGLQRE LNEGDHDGLV DIMVHLLAVR SRQRATDELF EPLKETITLL 1210 1220 1230 1240 1250 1260 ESYGQKMPEQ VYIQLEELPE RWETTKKIAA TVRHEVSPLH NAEVTLIRKK CILFDAKQAE 1270 1280 1290 1300 1310 1320 FRERFRHYAP LGFNAENPYT ALDKANEELE ALEEEMLQMQ ESTRLFEVAL PEYKQMKQCR 1330 1340 1350 1360 1370 1380 KEIKLLKGLW DVIIYVRRSI DNWTKTQWRQ IHVEQMDVEL RRFAKASSIT EIWSLNKEVR 1390 1400 1410 1420 1430 1440 VWDAYTGLEG TVKDMTASLR AITELQSPAL RDRHWHQLMK AIGVKFLINE ATTLADLLAL 1450 1460 1470 1480 1490 1500 RLHRVEDDVR RIVDKAVKEL GTEKVITEIS QTWATMKFSY EVHYRTGIPL LKSDEQLFET 1510 1520 1530 1540 1550 1560 LEHNQVQLQT LLQSKYVEYF IEQVLSWQNK LNIADLVIFT WMEVQRTWSH LESIFVCSED 1570 1580 1590 1600 1610 1620 IRIQLVKDAR RFDGVDAEFK ELMFKTAKVE NVLEATCRPN LYEKLKDLQS RLSLCEKALA 1630 1640 1650 1660 1670 1680 EYLETKRIAF PRFYFVSSAD LLDILSKGAQ PKQVTCHLAK LFDSIADLQF EDNQDVSAHR 1690 1700 1710 1720 1730 1740 AVGMYSKEKE YVPFQAECEC VGHVETWLLQ LEQTMQETVR HSITEAIVAY EEKPRELWIF 1750 1760 1770 1780 1790 1800 DFPAQVALTS SQIWWTTDVG IAFSRLEEGY ETALKDFHKK QISQLNTLIT LLLGELPPGD 1810 1820 1830 1840 1850 1860 RQKIMTICTI DVHARDVVAK LISQKQVVVS PQAFTWLSQL RHRWEDTQKH CFVNICDAQF 1870 1880 1890 1900 1910 1920 QYFYEYLGNS PRLVITPLTD RCYITLTQSL HLTMSGAPAG PAGTGKTETT KDLGRALGMM 1930 1940 1950 1960 1970 1980 VYVFNCSEQM DYKSIGNIYK GLVQTGAWGC FDEFNRISVE VLSVVAVQVK MIHDAIRNRK 1990 2000 2010 2020 2030 2040 KRFVFLGEAI TLKPSVGIFI TMNPGYAGRT ELPENLKALF RPCAMVAPDI ELICEILLVA 2050 2060 2070 2080 2090 2100 EGFVDARALA RKFITLYTLC KELLSKQDHY DWGLRAIKSV LVVAGSLKRG DKNRPEDQVL 2110 2120 2130 2140 2150 2160 MRALRDFNMP KIVTDDIPVF LGLVGDLFPA LDVPRRRKLH FEQMVRQSTL ELRLQPEESF 2170 2180 2190 2200 2210 2220 ILKVVQLEEL LAVRHSVFVV GNAGTGKSKI LRTLNRTYVN MKQKPVWNDL NPKAVTTDEL 2230 2240 2250 2260 2270 2280 FGFIHHATRE WKDGKIVYSY FIGLFSSILR EQANLKHDGP KWIVLDGDID PMWIESLNTV 2290 2300 2310 2320 2330 2340 MDDNKVLTLA SNERIALTPF MRLLFEIHHL RSATPATVSR AGILYVNPQD LGWNPYVASW 2350 2360 2370 2380 2390 2400 IDRRRHQSEK ANLTILFDKY VPACLDKLRT SFKTITSIPE SSLVQTLCVL LECLLTPENV 2410 2420 2430 2440 2450 2460 PSDSPKEVYE VYFVFACIWA FGGTLLQDQI SDYQADFSRW WQKEMKAVKF PSQGTIFDYY 2470 2480 2490 2500 2510 2520 VDHKTKKLLP WADKIAQFTM DPDVPLQTVL VHTTETARLR YFMELLLEKG KPLMLVGNAG 2530 2540 2550 2560 2570 2580 VGKTVFVGDT LASLSEDYIV SRVPFNYYTT STALQKILEK PLEKKAGHNY GPGGNKKLIY 2590 2600 2610 2620 2630 2640 FIDDMNMPEV DLYGTVQPHT LIRQHIDYGH WYDRQKVMLK EIHNCQYVAC MNPMVGSFTI 2650 2660 2670 2680 2690 2700 SPRLQRHFTV FAFNFPSLDA LNTIYGQIFS FHFQQQAFAP SILRSGPTLI QATIAFHQTM 2710 2720 2730 2740 2750 2760 MCNFLPTAIK FHYIFNLRDL SNVFQGILFA SPECLKGPLD LIHLWLHESA RVYGDKLIDK 2770 2780 2790 2800 2810 2820 KDCDLFQRRM LETAYKYFEG IDSHMLLQQP LIYCHFADRG KDPHYMPVKD WEVLKTILTE 2830 2840 2850 2860 2870 2880 TLDNYNELNA AMHLVLFEDA MQHVCRISRI LRTPQGCALL VGVGGSGKQS LSRLAAYLRG 2890 2900 2910 2920 2930 2940 LEVFQITLTE GYGIQELRVD LANLYIRTGA KNMPTVFLLT DAQVLDESFL VLINDLLASG 2950 2960 2970 2980 2990 3000 EIPDLFSDED VDKIISGIHN EVHALGMVDS RENCWKFFMA RVRLQLKIIL CFSPVGRTLR 3010 3020 3030 3040 3050 3060 VRARKFPAIV NCTAIDWFHA WPQEALVSVS RRFIEETKGI EPVHKDSISL FMAHVHTTVN 3070 3080 3090 3100 3110 3120 EMSTRYYQNE RRHNYTTPKS FLEQISLFKN LLKKKQNEVS EKKERLVNGI QKLKTTASQV 3130 3140 3150 3160 3170 3180 GDLKARLASQ EAELQLRNHD AEALITKIGL QTEKVSREKT IADAEERKVT AIQTEVFQKQ 3190 3200 3210 3220 3230 3240 RECEADLLKA EPALVAATAA LNTLNRVNLS ELKAFPNPPI AVTNVTAAVM VLLAPRGRVP 3250 3260 3270 3280 3290 3300 KDRSWKAAKV FMGKVDDFLQ ALINYDKEHI PENCLKVVNE HYLKDPEFNP NLIRTKSFAA 3310 3320 3330 3340 3350 3360 AGLCAWVINI IKFYEVYCDV EPKRQALAQA NLELAAATEK LEAIRKKLVD LDRNLSRLTA 3370 3380 3390 3400 3410 3420 SFEKATAEKV RCQEEVNQTN KTIKLANRLV KELEAKKIRW GQSIKSFEAQ EKTLCGDVLL 3430 3440 3450 3460 3470 3480 TAAFVSYVGP FTRQYRQELV HCKWVPFLQQ KVSIPLTEGL DLISMLTDDA TIAAWNNEGL 3490 3500 3510 3520 3530 3540 PSDRMSTENA AILTHCERWP LVIDPQQQGI KWIKNKYGMD LKVTHLGQKG FLNAIETALA 3550 3560 3570 3580 3590 3600 FGDVILIENL EETIDPVLDP LLGRNTIKKG KYIRIGDKEC EFNKNFRLIL HTKLANPHYK 3610 3620 3630 3640 3650 3660 PELQAQTTLL NFTVTEDGLE AQLLAEVVSI ERPDLEKLKL VLTKHQNDFK IELKYLEDDL 3670 3680 3690 3700 3710 3720 LLRLSAAEGS FLDDTKLVER LEATKTTVAE IEHKVIEAKE NERKINEARE CYRPLAARAS 3730 3740 3750 3760 3770 3780 LLYFVINDLQ KINPLYQFSL KAFNVLFHRA IEQADKVEDM QGRISILMES ITHAVFLYTS 3790 3800 3810 3820 3830 3840 QALFEKDKLT FLSQMAFQIL LRKKEIDPLE LDFLLRFTVE HTHLSPVDFL TSQSWSAIKA 3850 3860 3870 3880 3890 3900 IAVMEEFRGI DRDVEGSAKQ WRKWVESECP EKEKLPQEWK KKSLIQKLIL LRAMRPDRMT 3910 3920 3930 3940 3950 3960 YALRNFVEEK LGAKYVERTR LDLVKAFEES SPATPIFFIL SPGVDALKDL EILGKRLGFT 3970 3980 3990 4000 4010 4020 IDSGKFHNVS LGQGQETVAE VALEKASKGG HWVILQNVHL VAKWLGTLEK LLERFSQGSH 4030 4040 4050 4060 4070 4080 RDYRVFMSAE SAPTPDEHII PQGLLENSIK ITNEPPTGML ANLHAALYNF DQDTLEICSK 4090 4100 4110 4120 4130 4140 EQEFKSILFS LCYFHACVAG RLRFGPQGWS RSYPFNPGDL TICASVLYNY LEANSKVPWE 4150 4160 4170 4180 4190 4200 DLRYLFGEIM YGGHITDDWD RKLCRVYLEE FMNPSLTEDE LMLAPGFAAP PYLDYAGYHQ 4210 4220 4230 4240 4250 4260 YIEEMLPPES PALYGLHPNA EIEFLTVTSN TLFRTLLEMQ PRNALSGDEL GQSTEEKVKN 4270 4280 4290 4300 4310 4320 VLDDILEKLP EEFNMAEIMQ KNSNRSPYVL VCFQECERMN ILIREIRISL EQLDLSLKGE 4330 4340 4350 4360 4370 4380 LALSPAVEAQ QFALSYDTVP DTWSKLAYPS TYGLAQWFND LLLRCRELDT WTQDLTLPAV 4390 4400 4410 4420 4430 4440 VWLSGFFNPQ SFLTAIMQTM ARKNEWPLDK TRLTADVTKK TKEDYGHPPR EGAYLHGLFM 4450 4460 4470 4480 4490 4500 EGARWDTQAG TIVEARLKEL ACPMPVIFAK ATPVDRQETK QTYECPVYRT KLRGPSYIWT 4510 4520 FRLKSEEKTA KWVLAGVALL LEA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia." Bartoloni L., Blouin J.-L., Pan Y., Gehrig C., Maiti A.K., Scamuffa N., Rossier C., Jorissen M., Armengot M., Meeks M., Mitchison H.M., Chung E.M.K., Delozier-Blanchet C.D., Craigen W.J., Antonarakis S.E. Proc. Natl. Acad. Sci. U.S.A. 99:10282-10286(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN KTGS, VARIANT CILD7 GLN-3004, VARIANTS LEU-34; ARG-639; CYS-654; ALA-1023; ALA-1038; GLY-1640; ASN-2641; THR-3474; VAL-3715; PRO-3765; VAL-4172 AND ILE-4177. Tissue: Nasal epithelium and Testis.
[2]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"Chromosomal localization of human dynein heavy chain genes." Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Ziegler A., Bouvagnet P. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1904-2004. Tissue: Nasal polyp.
[4]	"Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations." Schwabe G.C., Hoffmann K., Loges N.T., Birker D., Rossier C., de Santi M.M., Olbrich H., Fliegauf M., Failly M., Liebers U., Collura M., Gaedicke G., Mundlos S., Wahn U., Blouin J.-L., Niggemann B., Omran H., Antonarakis S.E., Bartoloni L. Hum. Mutat. 29:289-298(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CILD7, INVOLVEMENT IN KTGS, VARIANTS ALA-1023; ALA-1038; ASN-2641; VAL-3715; VAL-4172 AND ILE-4177.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ320497 mRNA. Translation: CAC60121.1. AC004595 Genomic DNA. No translation available. AC102952 Genomic DNA. No translation available. AC073102 Genomic DNA. No translation available. AC013481 Genomic DNA. No translation available. AC005078 Genomic DNA. No translation available. AC004002 Genomic DNA. No translation available. AC099653 Genomic DNA. No translation available. AJ132087 mRNA. Translation: CAA10560.1.
IPI	IPI00335711.
RefSeq	NP_001264044.1. NM_001277115.1.
UniGene	Hs.520245. Hs.744069.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000387188.
PTM databases
PhosphoSite	Q96DT5.
Polymorphism databases
DMDM	311033455.
Proteomic databases
PaxDb	Q96DT5.
PRIDE	Q96DT5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000328843; ENSP00000330671; ENSG00000105877.
GeneID	8701.
KEGG	hsa:8701.
Organism-specific databases
CTD	8701.
GeneCards	GC07P021582.
H-InvDB	HIX0006509. HIX0167830.
HGNC	HGNC:2942. DNAH11.
HPA	HPA045880.
MIM	244400. phenotype. 603339. gene. 611884. phenotype.
neXtProt	NX_Q96DT5.
Orphanet	244. Primary ciliary dyskinesia. 98861. Primary ciliary dyskinesia, Kartagener type.
PharmGKB	PA27396.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5245.
HOGENOM	HOG000237309.
HOVERGEN	HBG107831.
Gene expression databases
ArrayExpress	Q96DT5.
Bgee	Q96DT5.
CleanEx	HS_DNAH11.
Genevestigator	Q96DT5.
GermOnline	ENSG00000105877. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR011704. ATPase_dyneun-rel_AAA. IPR026983. DHC_fam. IPR024743. Dynein_HC_stalk. IPR024317. Dynein_heavy_chain_D4_dom. IPR004273. Dynein_heavy_dom. IPR013594. Dynein_heavy_dom-1. IPR013602. Dynein_heavy_dom-2. IPR027417. P-loop_NTPase. [Graphical view]
PANTHER	PTHR10676. PTHR10676. 1 hit.
Pfam	PF07728. AAA_5. 1 hit. PF12780. AAA_8. 1 hit. PF08385. DHC_N1. 1 hit. PF08393. DHC_N2. 1 hit. PF03028. Dynein_heavy. 1 hit. PF12777. MT. 1 hit. [Graphical view]
SMART	SM00382. AAA. 4 hits. [Graphical view]
SUPFAM	SSF52540. SSF52540. 4 hits.
ProtoNet	Search...
Other
ChiTaRS	DNAH11. human.
GenomeRNAi	8701.
NextBio	32621.
SOURCE	Search...

Entry information

Entry name

DYH11_HUMAN

Accession

Primary (citable) accession number: Q96DT5
Secondary accession number(s): Q9UJ82

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 19, 2002
Last sequence update:	November 2, 2010
Last modified:	May 29, 2013
This is version 108 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.