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Protein

Dynein heavy chain 11, axonemal

Gene

DNAH11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1893 – 19008ATPSequence Analysis
Nucleotide bindingi2174 – 21818ATPSequence Analysis
Nucleotide bindingi2510 – 25178ATPSequence Analysis
Nucleotide bindingi2855 – 28628ATPSequence Analysis

GO - Molecular functioni

  1. ATPase activity Source: InterPro
  2. ATP binding Source: UniProtKB-KW
  3. microtubule motor activity Source: InterPro

GO - Biological processi

  1. microtubule-based movement Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein heavy chain 11, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 11
Ciliary dynein heavy chain 11
Gene namesi
Name:DNAH11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:2942. DNAH11.

Subcellular locationi

GO - Cellular componenti

  1. cilium Source: UniProtKB-KW
  2. cytoplasm Source: UniProtKB-KW
  3. dynein complex Source: UniProtKB-KW
  4. microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

Kartagener syndrome3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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).

See also OMIM:244400
Ciliary dyskinesia, primary, 72 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.

See also OMIM:611884
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti117 – 1171E → V in CILD7. 1 Publication
VAR_072472
Natural varianti2383 – 23831L → P in CILD7. 1 Publication
VAR_072473
Natural varianti2997 – 29971R → Q in CILD7; not proven to be pathogenic. 1 Publication
Corresponds to variant rs35865357 [ dbSNP | Ensembl ].
VAR_013859
Natural varianti4327 – 43271L → S in CILD7. 1 Publication
VAR_072474

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

MIMi244400. phenotype.
611884. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27396.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 45164516Dynein heavy chain 11, axonemalPRO_0000114633Add
BLAST

Proteomic databases

PaxDbiQ96DT5.
PRIDEiQ96DT5.

PTM databases

PhosphoSiteiQ96DT5.

Expressioni

Gene expression databases

BgeeiQ96DT5.
CleanExiHS_DNAH11.
ExpressionAtlasiQ96DT5. baseline and differential.
GenevestigatoriQ96DT5.

Organism-specific databases

HPAiHPA045880.

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains.

Protein-protein interaction databases

BioGridi114244. 1 interaction.
STRINGi9606.ENSP00000387188.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 18541854StemBy similarityAdd
BLAST
Regioni1855 – 2076222AAA 1By similarityAdd
BLAST
Regioni2136 – 2366231AAA 2By similarityAdd
BLAST
Regioni2472 – 2719248AAA 3By similarityAdd
BLAST
Regioni2817 – 3066250AAA 4By similarityAdd
BLAST
Regioni3072 – 3403332StalkBy similarityAdd
BLAST
Regioni3459 – 3686228AAA 5By similarityAdd
BLAST
Regioni3896 – 4122227AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1274 – 132754Sequence AnalysisAdd
BLAST
Coiled coili3072 – 313665Sequence AnalysisAdd
BLAST
Coiled coili3312 – 340392Sequence AnalysisAdd
BLAST
Coiled coili3668 – 370336Sequence AnalysisAdd
BLAST

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, Repeat

Phylogenomic databases

eggNOGiCOG5245.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
InParanoidiQ96DT5.
KOiK10408.
OrthoDBiEOG7K9K21.
PhylomeDBiQ96DT5.
TreeFamiTF316836.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. 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]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PfamiPF07728. 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]
SMARTiSM00382. AAA. 4 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequencei

Sequence statusi: Complete.

Q96DT5-1 [UniParc]FASTAAdd to Basket

« Hide

        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
Length:4,516
Mass (Da):520,369
Last modified:February 4, 2015 - v4
Checksum:i4F4F149CE7FF82D7
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti34 – 341E → L Requires 2 nucleotide substitutions. 1 Publication
VAR_013851
Natural varianti34 – 341E → V.
Corresponds to variant rs2285944 [ dbSNP | Ensembl ].
VAR_042944
Natural varianti117 – 1171E → V in CILD7. 1 Publication
VAR_072472
Natural varianti639 – 6391Q → R.1 Publication
Corresponds to variant rs12670130 [ dbSNP | Ensembl ].
VAR_013852
Natural varianti654 – 6541S → C.1 Publication
VAR_013853
Natural varianti1023 – 10231V → A.2 Publications
Corresponds to variant rs10269582 [ dbSNP | Ensembl ].
VAR_013854
Natural varianti1038 – 10381T → A.2 Publications
Corresponds to variant rs10224537 [ dbSNP | Ensembl ].
VAR_013855
Natural varianti1316 – 13161M → V.
Corresponds to variant rs17144788 [ dbSNP | Ensembl ].
VAR_042945
Natural varianti1635 – 16351D → G.1 Publication
Corresponds to variant rs17144835 [ dbSNP | Ensembl ].
VAR_013856
Natural varianti2383 – 23831L → P in CILD7. 1 Publication
VAR_072473
Natural varianti2586 – 25861Y → H.
Corresponds to variant rs2003417 [ dbSNP | Ensembl ].
VAR_060141
Natural varianti2634 – 26341N → S.
Corresponds to variant rs9639393 [ dbSNP | Ensembl ].
VAR_013857
Natural varianti2675 – 26751I → V.
VAR_013858
Natural varianti2997 – 29971R → Q in CILD7; not proven to be pathogenic. 1 Publication
Corresponds to variant rs35865357 [ dbSNP | Ensembl ].
VAR_013859
Natural varianti3467 – 34671A → T.1 Publication
Corresponds to variant rs2214326 [ dbSNP | Ensembl ].
VAR_013860
Natural varianti3708 – 37081V → L.
Corresponds to variant rs4722064 [ dbSNP | Ensembl ].
VAR_013861
Natural varianti3758 – 37581S → P.1 Publication
Corresponds to variant rs17145720 [ dbSNP | Ensembl ].
VAR_013862
Natural varianti4165 – 41651M → V.2 Publications
Corresponds to variant rs6461613 [ dbSNP | Ensembl ].
VAR_042946
Natural varianti4170 – 41701T → I.2 Publications
Corresponds to variant rs12537531 [ dbSNP | Ensembl ].
VAR_013863
Natural varianti4327 – 43271L → S in CILD7. 1 Publication
VAR_072474

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.
RefSeqiNP_001264044.1. NM_001277115.1.
UniGeneiHs.520245.
Hs.744069.

Genome annotation databases

EnsembliENST00000328843; ENSP00000330671; ENSG00000105877.
GeneIDi8701.
KEGGihsa:8701.
UCSCiuc031swp.1. human.

Polymorphism databases

DMDMi311033455.

Keywords - Coding sequence diversityi

Polymorphism

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.
RefSeqiNP_001264044.1. NM_001277115.1.
UniGeneiHs.520245.
Hs.744069.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114244. 1 interaction.
STRINGi9606.ENSP00000387188.

PTM databases

PhosphoSiteiQ96DT5.

Polymorphism databases

DMDMi311033455.

Proteomic databases

PaxDbiQ96DT5.
PRIDEiQ96DT5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000328843; ENSP00000330671; ENSG00000105877.
GeneIDi8701.
KEGGihsa:8701.
UCSCiuc031swp.1. human.

Organism-specific databases

CTDi8701.
GeneCardsiGC07P021582.
GeneReviewsiDNAH11.
H-InvDBHIX0006509.
HIX0167830.
HGNCiHGNC:2942. DNAH11.
HPAiHPA045880.
MIMi244400. phenotype.
603339. gene.
611884. phenotype.
neXtProtiNX_Q96DT5.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27396.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5245.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
InParanoidiQ96DT5.
KOiK10408.
OrthoDBiEOG7K9K21.
PhylomeDBiQ96DT5.
TreeFamiTF316836.

Miscellaneous databases

ChiTaRSiDNAH11. human.
GeneWikiiDNAH11.
GenomeRNAii8701.
NextBioi32621.
PROiQ96DT5.
SOURCEiSearch...

Gene expression databases

BgeeiQ96DT5.
CleanExiHS_DNAH11.
ExpressionAtlasiQ96DT5. baseline and differential.
GenevestigatoriQ96DT5.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. 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]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PfamiPF07728. 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]
SMARTiSM00382. AAA. 4 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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-2997, VARIANTS LEU-34; ARG-639; CYS-654; ALA-1023; ALA-1038; GLY-1635; THR-3467; PRO-3758; VAL-4165 AND ILE-4170.
    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 1897-1997.
    Tissue: Nasal polyp.
  4. Cited for: INVOLVEMENT IN CILD7, INVOLVEMENT IN KTGS, VARIANTS ALA-1023; ALA-1038; VAL-4165 AND ILE-4170.
  5. "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD7, VARIANTS CILD7 VAL-117; PRO-2383 AND SER-4327.

Entry informationi

Entry nameiDYH11_HUMAN
AccessioniPrimary (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: February 4, 2015
This is version 124 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.