UniProtKB - Q96DT5 (DYH11_HUMAN)
Protein
Dynein heavy chain 11, axonemal
Gene
DNAH11
Organism
Homo sapiens (Human)
Status
Functioni
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.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 1893 – 1900 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 2174 – 2181 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 2510 – 2517 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 2855 – 2862 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP-dependent microtubule motor activity, minus-end-directed Source: GO_Central
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
GO - Biological processi
- cardiac septum morphogenesis Source: Ensembl
- cilium movement Source: GO_Central
- determination of left/right asymmetry in nervous system Source: Ensembl
- determination of left/right symmetry Source: SYSCILIA_CCNET
- epithelial cilium movement involved in determination of left/right asymmetry Source: Ensembl
- flagellated sperm motility Source: SYSCILIA_CCNET
- learning or memory Source: Ensembl
- microtubule-based movement Source: GO_Central
- regulation of cilium beat frequency Source: SYSCILIA_CCNET
Keywordsi
Molecular function | Motor protein |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96DT5 |
Names & Taxonomyi
Protein namesi | Recommended name: Dynein heavy chain 11, axonemalCuratedAlternative name(s): Axonemal beta dynein heavy chain 11 Ciliary dynein heavy chain 11 |
Gene namesi | Name:DNAH11Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000105877.17 |
HGNCi | HGNC:2942, DNAH11 |
MIMi | 603339, gene |
neXtProti | NX_Q96DT5 |
Subcellular locationi
Cytoskeleton
- cilium axoneme 1 Publication
Cytoskeleton
- axoneme Source: UniProtKB
- dynein complex Source: GO_Central
- microtubule Source: UniProtKB-KW
- proximal portion of axoneme Source: GO_Central
Extracellular region or secreted
- extracellular region Source: GOC
Other locations
- 9+0 motile cilium Source: Ensembl
- 9+2 motile cilium Source: GO_Central
- motile cilium Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, MicrotubulePathology & Biotechi
Involvement in diseasei
Ciliary dyskinesia, primary, 7 (CILD7)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072472 | 117 | E → V in CILD7. 1 PublicationCorresponds to variant dbSNP:rs72655968Ensembl. | 1 | |
Natural variantiVAR_072473 | 2383 | L → P in CILD7. 1 PublicationCorresponds to variant dbSNP:rs72657353Ensembl. | 1 | |
Natural variantiVAR_013859 | 2997 | R → Q in CILD7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs35865357EnsemblClinVar. | 1 | |
Natural variantiVAR_072474 | 4327 | L → S in CILD7. 1 PublicationCorresponds to variant dbSNP:rs72658826Ensembl. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 8701 |
GeneReviewsi | DNAH11 |
MalaCardsi | DNAH11 |
MIMi | 611884, phenotype |
OpenTargetsi | ENSG00000105877 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA27396 |
Miscellaneous databases
Pharosi | Q96DT5, Tbio |
Polymorphism and mutation databases
BioMutai | DNAH11 |
DMDMi | 311033455 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000114633 | 1 – 4516 | Dynein heavy chain 11, axonemalAdd BLAST | 4516 |
Proteomic databases
EPDi | Q96DT5 |
jPOSTi | Q96DT5 |
MassIVEi | Q96DT5 |
PaxDbi | Q96DT5 |
PeptideAtlasi | Q96DT5 |
PRIDEi | Q96DT5 |
ProteomicsDBi | 76319 |
PTM databases
GlyConnecti | 1190, 11 N-Linked glycans (1 site) |
GlyGeni | Q96DT5, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q96DT5 |
PhosphoSitePlusi | Q96DT5 |
Expressioni
Tissue specificityi
Expressed in airway epithelial cells (at protein level). Not detected in spermatozoa (at protein level).1 Publication
Gene expression databases
Bgeei | ENSG00000105877, Expressed in right uterine tube and 123 other tissues |
ExpressionAtlasi | Q96DT5, baseline and differential |
Genevisiblei | Q96DT5, HS |
Organism-specific databases
HPAi | ENSG00000105877, Tissue enhanced (epididymis, parathyroid gland) |
Interactioni
Subunit structurei
Consists of at least two heavy chains and a number of intermediate and light chains.
GO - Molecular functioni
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 114244, 1 interactor |
STRINGi | 9606.ENSP00000475939 |
Miscellaneous databases
RNActi | Q96DT5, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 1854 | StemBy similarityAdd BLAST | 1854 | |
Regioni | 1855 – 2076 | AAA 1By similarityAdd BLAST | 222 | |
Regioni | 2136 – 2366 | AAA 2By similarityAdd BLAST | 231 | |
Regioni | 2472 – 2719 | AAA 3By similarityAdd BLAST | 248 | |
Regioni | 2817 – 3066 | AAA 4By similarityAdd BLAST | 250 | |
Regioni | 3072 – 3403 | StalkBy similarityAdd BLAST | 332 | |
Regioni | 3459 – 3686 | AAA 5By similarityAdd BLAST | 228 | |
Regioni | 3896 – 4122 | AAA 6By similarityAdd BLAST | 227 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1274 – 1327 | Sequence analysisAdd BLAST | 54 | |
Coiled coili | 3072 – 3136 | Sequence analysisAdd BLAST | 65 | |
Coiled coili | 3312 – 3403 | Sequence analysisAdd BLAST | 92 | |
Coiled coili | 3668 – 3703 | Sequence analysisAdd BLAST | 36 |
Domaini
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.
Sequence similaritiesi
Belongs to the dynein heavy chain family.Curated
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG3595, Eukaryota |
GeneTreei | ENSGT00940000158880 |
HOGENOMi | CLU_000038_4_0_1 |
InParanoidi | Q96DT5 |
OrthoDBi | 1492at2759 |
TreeFami | TF316836 |
Family and domain databases
Gene3Di | 1.10.8.710, 1 hit 1.10.8.720, 1 hit 1.20.140.100, 1 hit 3.10.490.20, 1 hit 3.20.180.20, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR035699, AAA_6 IPR035706, AAA_9 IPR041658, AAA_lid_11 IPR042219, AAA_lid_11_sf IPR041589, DNAH3_AAA_lid_1 IPR042228, Dynein_2_C IPR042222, Dynein_2_N IPR043157, Dynein_AAA1S IPR041466, Dynein_AAA5_ext IPR041228, Dynein_C IPR043160, Dynein_C_barrel IPR024743, Dynein_HC_stalk IPR024317, Dynein_heavy_chain_D4_dom IPR004273, Dynein_heavy_D6_P-loop IPR013594, Dynein_heavy_dom-1 IPR013602, Dynein_heavy_dom-2 IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF12774, AAA_6, 1 hit PF12780, AAA_8, 1 hit PF12781, AAA_9, 1 hit PF17857, AAA_lid_1, 1 hit PF18198, AAA_lid_11, 1 hit PF08385, DHC_N1, 1 hit PF08393, DHC_N2, 1 hit PF17852, Dynein_AAA_lid, 1 hit PF18199, Dynein_C, 1 hit PF03028, Dynein_heavy, 1 hit PF12777, MT, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 4 hits |
SUPFAMi | SSF52540, SSF52540, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
Q96DT5-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAAQVAAREA RDFREAPTLR LTSGAGLEAV GAVELEEEEE NEEEAAARRA
60 70 80 90 100
RSFAQDARVR FLGGRLAMML GFTEEKWSQY LESEDNRQVL GEFLESTSPA
110 120 130 140 150
CLVFSFAASG RLAASQEIPR DANHKLVFIS KKITESIGVN DFSQVVLFGE
160 170 180 190 200
LPALSLGHVS AFLDEILVPV LSNKNNHKSW SCFTSQDMEY HIEVMKKKMY
210 220 230 240 250
IFRGKMSRRT LLPIPTVAGK MDLDQNCSEN KPPSNERIIL HAIESVVIEW
260 270 280 290 300
SHQIQEIIER DSVQRLLNGL HLSPQAELDF WMMRRENLSC IYDQLQAPVV
310 320 330 340 350
LKMVKILTTK QSSYFPTLKD IFLAVENALL EAQDVELYLR PLRRHIQCLQ
360 370 380 390 400
ETEFPQTRIL IAPLFHTICL IWSHSKFYNT PARVIVLLQE FCNLFINQAT
410 420 430 440 450
AYLSPEDLLR GEIEESLEKV QVAVNILKTF KNSFFNYRKK LASYFMGRKL
460 470 480 490 500
RPWDFQSHLV FCRFDKFLDR LIKIEDIFAT TLEFEKLERL EFGGTKGAIL
510 520 530 540 550
NGQVHEMSEE LMELCKLFKQ STYDPSDCTN MEFESDYVAF KSKTLEFDRR
560 570 580 590 600
LGTIICEAFF NCNGLEAAFK LLTIFGNFLE KPVVMEIFSL HYSTLVHMFN
610 620 630 640 650
TELDVCKQLY NEHMKQIECG HVVLNKNMPF TSGNMKWAQQ VLQRLQMFWS
660 670 680 690 700
NFASLRYLFL GNPDHALVYQ KYVEMTTLLD QFESRIYNEW KSNVDEICEF
710 720 730 740 750
NLNQPLVKFS AINGLLCVNF DPKLVAVLRE VKYLLMLKKQ DIPDSALAIF
760 770 780 790 800
KKRNTILKYI GNLDLLVQGY NKLKQTLLEV EYPLIEDELR AIDEQLTAAT
810 820 830 840 850
TWLTWQDDCW GYIERVRAAT SELEHRVERT QKNVKVIQQT MRGWARCVLP
860 870 880 890 900
PRREHRREAA FTLEDKGDLF TKKYKLIQGD GCKIHNLVEE NRKLFKANPS
910 920 930 940 950
LDTWKIYVEF IDDIVVEGFF QAIMHDLDFF LKNTEKQLKP APFFQAQMIL
960 970 980 990 1000
LPPEIVFKPS LDREAGDGFY DLVEEMLCNS FRMSAQMNRI ATHLEIKNYQ
1010 1020 1030 1040 1050
NDMDNMLGLA EVRQEIMNRV VNVINKVLDF RNTLETHTYL WVDDRAEFMK
1060 1070 1080 1090 1100
HFLLYGHAVS SDEMDAHANE EIPEQPPTLE QFKEQIDIYE ALYVQMSKFE
1110 1120 1130 1140 1150
DFRVFDSWFK VDMKPFKVSL LTIIKKWSWM FQEHLLRFVI DSLNELQEFI
1160 1170 1180 1190 1200
KETDSGLQRE LNEGDHDGLV DIMVHLLAVR SRQRATDELF EPLKETITLL
1210 1220 1230 1240 1250
ESYGQKMPEQ VYIQLEELPE RWETTKKIAA TVRHEVSPLH NAEVTLIRKK
1260 1270 1280 1290 1300
CILFDAKQAE FRERFRHYAP LGFNAENPYT ALDKANEELE ALEEEMLQMQ
1310 1320 1330 1340 1350
ESTRLFEVAL PEYKQMKQCR KEIKLLKGLW DVIIYVRRSI DNWTKTQWRQ
1360 1370 1380 1390 1400
IHVEQMDVEL RRFAKEIWSL NKEVRVWDAY TGLEGTVKDM TASLRAITEL
1410 1420 1430 1440 1450
QSPALRDRHW HQLMKAIGVK FLINEATTLA DLLALRLHRV EDDVRRIVDK
1460 1470 1480 1490 1500
AVKELGTEKV ITEISQTWAT MKFSYEVHYR TGIPLLKSDE QLFETLEHNQ
1510 1520 1530 1540 1550
VQLQTLLQSK YVEYFIEQVL SWQNKLNIAD LVIFTWMEVQ RTWSHLESIF
1560 1570 1580 1590 1600
VCSEDIRIQL VKDARRFDGV DAEFKELMFK TAKVENVLEA TCRPNLYEKL
1610 1620 1630 1640 1650
KDLQSRLSLC EKALAEYLET KRIAFPRFYF VSSADLLDIL SKGAQPKQVT
1660 1670 1680 1690 1700
CHLAKLFDSI ADLQFEDNQD VSAHRAVGMY SKEKEYVPFQ AECECVGHVE
1710 1720 1730 1740 1750
TWLLQLEQTM QETVRHSITE AIVAYEEKPR ELWIFDFPAQ VALTSSQIWW
1760 1770 1780 1790 1800
TTDVGIAFSR LEEGYETALK DFHKKQISQL NTLITLLLGE LPPGDRQKIM
1810 1820 1830 1840 1850
TICTIDVHAR DVVAKLISQK VVSPQAFTWL SQLRHRWEDT QKHCFVNICD
1860 1870 1880 1890 1900
AQFQYFYEYL GNSPRLVITP LTDRCYITLT QSLHLTMSGA PAGPAGTGKT
1910 1920 1930 1940 1950
ETTKDLGRAL GMMVYVFNCS EQMDYKSIGN IYKGLVQTGA WGCFDEFNRI
1960 1970 1980 1990 2000
SVEVLSVVAV QVKMIHDAIR NRKKRFVFLG EAITLKPSVG IFITMNPGYA
2010 2020 2030 2040 2050
GRTELPENLK ALFRPCAMVA PDIELICEIL LVAEGFVDAR ALARKFITLY
2060 2070 2080 2090 2100
TLCKELLSKQ DHYDWGLRAI KSVLVVAGSL KRGDKNRPED QVLMRALRDF
2110 2120 2130 2140 2150
NMPKIVTDDI PVFLGLVGDL FPALDVPRRR KLHFEQMVRQ STLELRLQPE
2160 2170 2180 2190 2200
ESFILKVVQL EELLAVRHSV FVVGNAGTGK SKILRTLNRT YVNMKQKPVW
2210 2220 2230 2240 2250
NDLNPKAVTT DELFGFIHHA TREWKDGKIV YSYFIGLFSS ILREQANLKH
2260 2270 2280 2290 2300
DGPKWIVLDG DIDPMWIESL NTVMDDNKVL TLASNERIAL TPFMRLLFEI
2310 2320 2330 2340 2350
HHLRSATPAT VSRAGILYVN PQDLGWNPYV ASWIDRRRHQ SEKANLTILF
2360 2370 2380 2390 2400
DKYVPACLDK LRTSFKTITS IPESSLVQTL CVLLECLLTP ENVPSDSPKE
2410 2420 2430 2440 2450
VYEVYFVFAC IWAFGGTLLQ DQISDYQADF SRWWQKEMKA VKFPSQGTIF
2460 2470 2480 2490 2500
DYYVDHKTKK LLPWADKIAQ FTMDPDVPLQ TVLVHTTETA RLRYFMELLL
2510 2520 2530 2540 2550
EKGKPLMLVG NAGVGKTVFV GDTLASLSED YIVSRVPFNY YTTSTALQKI
2560 2570 2580 2590 2600
LEKPLEKKAG HNYGPGGNKK LIYFIDDMNM PEVDLYGTVQ PHTLIRQHID
2610 2620 2630 2640 2650
YGHWYDRQKV MLKEIHNCQY VACMNPMVGS FTINPRLQRH FTVFAFNFPS
2660 2670 2680 2690 2700
LDALNTIYGQ IFSFHFQQQA FAPSILRSGP TLIQATIAFH QTMMCNFLPT
2710 2720 2730 2740 2750
AIKFHYIFNL RDLSNVFQGI LFASPECLKG PLDLIHLWLH ESARVYGDKL
2760 2770 2780 2790 2800
IDKKDCDLFQ RRMLETAYKY FEGIDSHMLL QQPLIYCHFA DRGKDPHYMP
2810 2820 2830 2840 2850
VKDWEVLKTI LTETLDNYNE LNAAMHLVLF EDAMQHVCRI SRILRTPQGC
2860 2870 2880 2890 2900
ALLVGVGGSG KQSLSRLAAY LRGLEVFQIT LTEGYGIQEL RVDLANLYIR
2910 2920 2930 2940 2950
TGAKNMPTVF LLTDAQVLDE SFLVLINDLL ASGEIPDLFS DEDVDKIISG
2960 2970 2980 2990 3000
IHNEVHALGM VDSRENCWKF FMARVRLQLK IILCFSPVGR TLRVRARKFP
3010 3020 3030 3040 3050
AIVNCTAIDW FHAWPQEALV SVSRRFIEET KGIEPVHKDS ISLFMAHVHT
3060 3070 3080 3090 3100
TVNEMSTRYY QNERRHNYTT PKSFLEQISL FKNLLKKKQN EVSEKKERLV
3110 3120 3130 3140 3150
NGIQKLKTTA SQVGDLKARL ASQEAELQLR NHDAEALITK IGLQTEKVSR
3160 3170 3180 3190 3200
EKTIADAEER KVTAIQTEVF QKQRECEADL LKAEPALVAA TAALNTLNRV
3210 3220 3230 3240 3250
NLSELKAFPN PPIAVTNVTA AVMVLLAPRG RVPKDRSWKA AKVFMGKVDD
3260 3270 3280 3290 3300
FLQALINYDK EHIPENCLKV VNEHYLKDPE FNPNLIRTKS FAAAGLCAWV
3310 3320 3330 3340 3350
INIIKFYEVY CDVEPKRQAL AQANLELAAA TEKLEAIRKK LVDLDRNLSR
3360 3370 3380 3390 3400
LTASFEKATA EKVRCQEEVN QTNKTIKLAN RLVKELEAKK IRWGQSIKSF
3410 3420 3430 3440 3450
EAQEKTLCGD VLLTAAFVSY VGPFTRQYRQ ELVHCKWVPF LQQKVSIPLT
3460 3470 3480 3490 3500
EGLDLISMLT DDATIAAWNN EGLPSDRMST ENAAILTHCE RWPLVIDPQQ
3510 3520 3530 3540 3550
QGIKWIKNKY GMDLKVTHLG QKGFLNAIET ALAFGDVILI ENLEETIDPV
3560 3570 3580 3590 3600
LDPLLGRNTI KKGKYIRIGD KECEFNKNFR LILHTKLANP HYKPELQAQT
3610 3620 3630 3640 3650
TLLNFTVTED GLEAQLLAEV VSIERPDLEK LKLVLTKHQN DFKIELKYLE
3660 3670 3680 3690 3700
DDLLLRLSAA EGSFLDDTKL VERLEATKTT VAEIEHKVIE AKENERKINE
3710 3720 3730 3740 3750
ARECYRPVAA RASLLYFVIN DLQKINPLYQ FSLKAFNVLF HRAIEQADKV
3760 3770 3780 3790 3800
EDMQGRISIL MESITHAVFL YTSQALFEKD KLTFLSQMAF QILLRKKEID
3810 3820 3830 3840 3850
PLELDFLLRF TVEHTHLSPV DFLTSQSWSA IKAIAVMEEF RGIDRDVEGS
3860 3870 3880 3890 3900
AKQWRKWVES ECPEKEKLPQ EWKKKSLIQK LILLRAMRPD RMTYALRNFV
3910 3920 3930 3940 3950
EEKLGAKYVE RTRLDLVKAF EESSPATPIF FILSPGVDAL KDLEILGKRL
3960 3970 3980 3990 4000
GFTIDSGKFH NVSLGQGQET VAEVALEKAS KGGHWVILQN VHLVAKWLGT
4010 4020 4030 4040 4050
LEKLLERFSQ GSHRDYRVFM SAESAPTPDE HIIPQGLLEN SIKITNEPPT
4060 4070 4080 4090 4100
GMLANLHAAL YNFDQDTLEI CSKEQEFKSI LFSLCYFHAC VAGRLRFGPQ
4110 4120 4130 4140 4150
GWSRSYPFNP GDLTICASVL YNYLEANSKV PWEDLRYLFG EIMYGGHITD
4160 4170 4180 4190 4200
DWDRKLCRVY LEEFMNPSLT EDELMLAPGF AAPPYLDYAG YHQYIEEMLP
4210 4220 4230 4240 4250
PESPALYGLH PNAEIEFLTV TSNTLFRTLL EMQPRNALSG DELGQSTEEK
4260 4270 4280 4290 4300
VKNVLDDILE KLPEEFNMAE IMQKNSNRSP YVLVCFQECE RMNILIREIR
4310 4320 4330 4340 4350
ISLEQLDLSL KGELALSPAV EAQQFALSYD TVPDTWSKLA YPSTYGLAQW
4360 4370 4380 4390 4400
FNDLLLRCRE LDTWTQDLTL PAVVWLSGFF NPQSFLTAIM QTMARKNEWP
4410 4420 4430 4440 4450
LDKTRLTADV TKKTKEDYGH PPREGAYLHG LFMEGARWDT QAGTIVEARL
4460 4470 4480 4490 4500
KELACPMPVI FAKATPVDRQ ETKQTYECPV YRTKLRGPSY IWTFRLKSEE
4510
KTAKWVLAGV ALLLEA
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WYC6 | A0A087WYC6_HUMAN | Dynein heavy chain 11, axonemal | DNAH11 | 4,523 | Annotation score: | ||
A0A0C4DFR0 | A0A0C4DFR0_HUMAN | Dynein heavy chain 11, axonemal | DNAH11 | 4,523 | Annotation score: | ||
U3KQN2 | U3KQN2_HUMAN | Dynein heavy chain 11, axonemal | DNAH11 | 174 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013851 | 34 | E → L Requires 2 nucleotide substitutions. 1 PublicationCorresponds to variant dbSNP:rs398123604EnsemblClinVar. | 1 | |
Natural variantiVAR_042944 | 34 | E → V. Corresponds to variant dbSNP:rs2285944EnsemblClinVar. | 1 | |
Natural variantiVAR_072472 | 117 | E → V in CILD7. 1 PublicationCorresponds to variant dbSNP:rs72655968Ensembl. | 1 | |
Natural variantiVAR_013852 | 639 | Q → R1 PublicationCorresponds to variant dbSNP:rs12670130EnsemblClinVar. | 1 | |
Natural variantiVAR_013853 | 654 | S → C1 PublicationCorresponds to variant dbSNP:rs62441683EnsemblClinVar. | 1 | |
Natural variantiVAR_013854 | 1023 | V → A2 PublicationsCorresponds to variant dbSNP:rs10269582EnsemblClinVar. | 1 | |
Natural variantiVAR_013855 | 1038 | T → A2 PublicationsCorresponds to variant dbSNP:rs10224537EnsemblClinVar. | 1 | |
Natural variantiVAR_042945 | 1316 | M → V. Corresponds to variant dbSNP:rs17144788EnsemblClinVar. | 1 | |
Natural variantiVAR_013856 | 1635 | D → G1 PublicationCorresponds to variant dbSNP:rs17144835EnsemblClinVar. | 1 | |
Natural variantiVAR_072473 | 2383 | L → P in CILD7. 1 PublicationCorresponds to variant dbSNP:rs72657353Ensembl. | 1 | |
Natural variantiVAR_060141 | 2586 | Y → H. Corresponds to variant dbSNP:rs2003417EnsemblClinVar. | 1 | |
Natural variantiVAR_013857 | 2634 | N → S. Corresponds to variant dbSNP:rs9639393EnsemblClinVar. | 1 | |
Natural variantiVAR_013858 | 2675 | I → V. Corresponds to variant dbSNP:rs72657364EnsemblClinVar. | 1 | |
Natural variantiVAR_013859 | 2997 | R → Q in CILD7; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs35865357EnsemblClinVar. | 1 | |
Natural variantiVAR_013860 | 3467 | A → T1 PublicationCorresponds to variant dbSNP:rs2214326EnsemblClinVar. | 1 | |
Natural variantiVAR_013861 | 3708 | V → L. Corresponds to variant dbSNP:rs4722064EnsemblClinVar. | 1 | |
Natural variantiVAR_013862 | 3758 | S → P1 PublicationCorresponds to variant dbSNP:rs17145720EnsemblClinVar. | 1 | |
Natural variantiVAR_042946 | 4165 | M → V2 PublicationsCorresponds to variant dbSNP:rs6461613EnsemblClinVar. | 1 | |
Natural variantiVAR_013863 | 4170 | T → I2 PublicationsCorresponds to variant dbSNP:rs12537531EnsemblClinVar. | 1 | |
Natural variantiVAR_072474 | 4327 | L → S in CILD7. 1 PublicationCorresponds to variant dbSNP:rs72658826Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS64602.1 |
RefSeqi | NP_001264044.1, NM_001277115.1 |
Genome annotation databases
Ensembli | ENST00000409508; ENSP00000475939; ENSG00000105877 |
GeneIDi | 8701 |
KEGGi | hsa:8701 |
UCSCi | uc064bwj.1, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | 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 |
CCDSi | CCDS64602.1 |
RefSeqi | NP_001264044.1, NM_001277115.1 |
3D structure databases
SMRi | Q96DT5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114244, 1 interactor |
STRINGi | 9606.ENSP00000475939 |
PTM databases
GlyConnecti | 1190, 11 N-Linked glycans (1 site) |
GlyGeni | Q96DT5, 2 sites, 1 O-linked glycan (1 site) |
iPTMneti | Q96DT5 |
PhosphoSitePlusi | Q96DT5 |
Polymorphism and mutation databases
BioMutai | DNAH11 |
DMDMi | 311033455 |
Proteomic databases
EPDi | Q96DT5 |
jPOSTi | Q96DT5 |
MassIVEi | Q96DT5 |
PaxDbi | Q96DT5 |
PeptideAtlasi | Q96DT5 |
PRIDEi | Q96DT5 |
ProteomicsDBi | 76319 |
Protocols and materials databases
Antibodypediai | 44039, 64 antibodies |
Genome annotation databases
Ensembli | ENST00000409508; ENSP00000475939; ENSG00000105877 |
GeneIDi | 8701 |
KEGGi | hsa:8701 |
UCSCi | uc064bwj.1, human |
Organism-specific databases
CTDi | 8701 |
DisGeNETi | 8701 |
EuPathDBi | HostDB:ENSG00000105877.17 |
GeneCardsi | DNAH11 |
GeneReviewsi | DNAH11 |
HGNCi | HGNC:2942, DNAH11 |
HPAi | ENSG00000105877, Tissue enhanced (epididymis, parathyroid gland) |
MalaCardsi | DNAH11 |
MIMi | 603339, gene 611884, phenotype |
neXtProti | NX_Q96DT5 |
OpenTargetsi | ENSG00000105877 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA27396 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3595, Eukaryota |
GeneTreei | ENSGT00940000158880 |
HOGENOMi | CLU_000038_4_0_1 |
InParanoidi | Q96DT5 |
OrthoDBi | 1492at2759 |
TreeFami | TF316836 |
Enzyme and pathway databases
PathwayCommonsi | Q96DT5 |
Miscellaneous databases
BioGRID-ORCSi | 8701, 2 hits in 825 CRISPR screens |
ChiTaRSi | DNAH11, human |
GeneWikii | DNAH11 |
GenomeRNAii | 8701 |
Pharosi | Q96DT5, Tbio |
PROi | PR:Q96DT5 |
RNActi | Q96DT5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105877, Expressed in right uterine tube and 123 other tissues |
ExpressionAtlasi | Q96DT5, baseline and differential |
Genevisiblei | Q96DT5, HS |
Family and domain databases
Gene3Di | 1.10.8.710, 1 hit 1.10.8.720, 1 hit 1.20.140.100, 1 hit 3.10.490.20, 1 hit 3.20.180.20, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR035699, AAA_6 IPR035706, AAA_9 IPR041658, AAA_lid_11 IPR042219, AAA_lid_11_sf IPR041589, DNAH3_AAA_lid_1 IPR042228, Dynein_2_C IPR042222, Dynein_2_N IPR043157, Dynein_AAA1S IPR041466, Dynein_AAA5_ext IPR041228, Dynein_C IPR043160, Dynein_C_barrel IPR024743, Dynein_HC_stalk IPR024317, Dynein_heavy_chain_D4_dom IPR004273, Dynein_heavy_D6_P-loop IPR013594, Dynein_heavy_dom-1 IPR013602, Dynein_heavy_dom-2 IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF12774, AAA_6, 1 hit PF12780, AAA_8, 1 hit PF12781, AAA_9, 1 hit PF17857, AAA_lid_1, 1 hit PF18198, AAA_lid_11, 1 hit PF08385, DHC_N1, 1 hit PF08393, DHC_N2, 1 hit PF17852, Dynein_AAA_lid, 1 hit PF18199, Dynein_C, 1 hit PF03028, Dynein_heavy, 1 hit PF12777, MT, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 4 hits |
SUPFAMi | SSF52540, SSF52540, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DYH11_HUMAN | |
Accessioni | Q96DT5Primary (citable) accession number: Q96DT5 Secondary accession number(s): Q9UJ82 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 19, 2002 |
Last sequence update: | February 4, 2015 | |
Last modified: | December 2, 2020 | |
This is version 171 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations