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Q96DT5

- DYH11_HUMAN

UniProt

Q96DT5 - DYH11_HUMAN

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Protein

Dynein heavy chain 11, axonemal

Gene

DNAH11

Organism
Homo sapiens (Human)
Status
Reviewed - 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 bindingi1900 – 19078ATPSequence Analysis
Nucleotide bindingi2181 – 21888ATPSequence Analysis
Nucleotide bindingi2517 – 25248ATPSequence Analysis
Nucleotide bindingi2862 – 28698ATPSequence 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 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).2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Ciliary dyskinesia, primary, 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3004 – 30041R → Q in CILD7; not proven to be pathogenic. 1 Publication
Corresponds to variant rs35865357 [ dbSNP | Ensembl ].
VAR_013859

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 – 45234523Dynein 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 – 18611861StemBy similarityAdd
BLAST
Regioni1862 – 2083222AAA 1By similarityAdd
BLAST
Regioni2143 – 2373231AAA 2By similarityAdd
BLAST
Regioni2479 – 2726248AAA 3By similarityAdd
BLAST
Regioni2824 – 3073250AAA 4By similarityAdd
BLAST
Regioni3079 – 3410332StalkBy similarityAdd
BLAST
Regioni3466 – 3693228AAA 5By similarityAdd
BLAST
Regioni3903 – 4129227AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1274 – 132754Sequence AnalysisAdd
BLAST
Coiled coili3079 – 314365Sequence AnalysisAdd
BLAST
Coiled coili3319 – 341092Sequence AnalysisAdd
BLAST
Coiled coili3675 – 371036Sequence 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.
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 RRFAKASSIT EIWSLNKEVR VWDAYTGLEG TVKDMTASLR
1410 1420 1430 1440 1450
AITELQSPAL RDRHWHQLMK AIGVKFLINE ATTLADLLAL RLHRVEDDVR
1460 1470 1480 1490 1500
RIVDKAVKEL GTEKVITEIS QTWATMKFSY EVHYRTGIPL LKSDEQLFET
1510 1520 1530 1540 1550
LEHNQVQLQT LLQSKYVEYF IEQVLSWQNK LNIADLVIFT WMEVQRTWSH
1560 1570 1580 1590 1600
LESIFVCSED IRIQLVKDAR RFDGVDAEFK ELMFKTAKVE NVLEATCRPN
1610 1620 1630 1640 1650
LYEKLKDLQS RLSLCEKALA EYLETKRIAF PRFYFVSSAD LLDILSKGAQ
1660 1670 1680 1690 1700
PKQVTCHLAK LFDSIADLQF EDNQDVSAHR AVGMYSKEKE YVPFQAECEC
1710 1720 1730 1740 1750
VGHVETWLLQ LEQTMQETVR HSITEAIVAY EEKPRELWIF DFPAQVALTS
1760 1770 1780 1790 1800
SQIWWTTDVG IAFSRLEEGY ETALKDFHKK QISQLNTLIT LLLGELPPGD
1810 1820 1830 1840 1850
RQKIMTICTI DVHARDVVAK LISQKQVVVS PQAFTWLSQL RHRWEDTQKH
1860 1870 1880 1890 1900
CFVNICDAQF QYFYEYLGNS PRLVITPLTD RCYITLTQSL HLTMSGAPAG
1910 1920 1930 1940 1950
PAGTGKTETT KDLGRALGMM VYVFNCSEQM DYKSIGNIYK GLVQTGAWGC
1960 1970 1980 1990 2000
FDEFNRISVE VLSVVAVQVK MIHDAIRNRK KRFVFLGEAI TLKPSVGIFI
2010 2020 2030 2040 2050
TMNPGYAGRT ELPENLKALF RPCAMVAPDI ELICEILLVA EGFVDARALA
2060 2070 2080 2090 2100
RKFITLYTLC KELLSKQDHY DWGLRAIKSV LVVAGSLKRG DKNRPEDQVL
2110 2120 2130 2140 2150
MRALRDFNMP KIVTDDIPVF LGLVGDLFPA LDVPRRRKLH FEQMVRQSTL
2160 2170 2180 2190 2200
ELRLQPEESF ILKVVQLEEL LAVRHSVFVV GNAGTGKSKI LRTLNRTYVN
2210 2220 2230 2240 2250
MKQKPVWNDL NPKAVTTDEL FGFIHHATRE WKDGKIVYSY FIGLFSSILR
2260 2270 2280 2290 2300
EQANLKHDGP KWIVLDGDID PMWIESLNTV MDDNKVLTLA SNERIALTPF
2310 2320 2330 2340 2350
MRLLFEIHHL RSATPATVSR AGILYVNPQD LGWNPYVASW IDRRRHQSEK
2360 2370 2380 2390 2400
ANLTILFDKY VPACLDKLRT SFKTITSIPE SSLVQTLCVL LECLLTPENV
2410 2420 2430 2440 2450
PSDSPKEVYE VYFVFACIWA FGGTLLQDQI SDYQADFSRW WQKEMKAVKF
2460 2470 2480 2490 2500
PSQGTIFDYY VDHKTKKLLP WADKIAQFTM DPDVPLQTVL VHTTETARLR
2510 2520 2530 2540 2550
YFMELLLEKG KPLMLVGNAG VGKTVFVGDT LASLSEDYIV SRVPFNYYTT
2560 2570 2580 2590 2600
STALQKILEK PLEKKAGHNY GPGGNKKLIY FIDDMNMPEV DLYGTVQPHT
2610 2620 2630 2640 2650
LIRQHIDYGH WYDRQKVMLK EIHNCQYVAC MNPMVGSFTI SPRLQRHFTV
2660 2670 2680 2690 2700
FAFNFPSLDA LNTIYGQIFS FHFQQQAFAP SILRSGPTLI QATIAFHQTM
2710 2720 2730 2740 2750
MCNFLPTAIK FHYIFNLRDL SNVFQGILFA SPECLKGPLD LIHLWLHESA
2760 2770 2780 2790 2800
RVYGDKLIDK KDCDLFQRRM LETAYKYFEG IDSHMLLQQP LIYCHFADRG
2810 2820 2830 2840 2850
KDPHYMPVKD WEVLKTILTE TLDNYNELNA AMHLVLFEDA MQHVCRISRI
2860 2870 2880 2890 2900
LRTPQGCALL VGVGGSGKQS LSRLAAYLRG LEVFQITLTE GYGIQELRVD
2910 2920 2930 2940 2950
LANLYIRTGA KNMPTVFLLT DAQVLDESFL VLINDLLASG EIPDLFSDED
2960 2970 2980 2990 3000
VDKIISGIHN EVHALGMVDS RENCWKFFMA RVRLQLKIIL CFSPVGRTLR
3010 3020 3030 3040 3050
VRARKFPAIV NCTAIDWFHA WPQEALVSVS RRFIEETKGI EPVHKDSISL
3060 3070 3080 3090 3100
FMAHVHTTVN EMSTRYYQNE RRHNYTTPKS FLEQISLFKN LLKKKQNEVS
3110 3120 3130 3140 3150
EKKERLVNGI QKLKTTASQV GDLKARLASQ EAELQLRNHD AEALITKIGL
3160 3170 3180 3190 3200
QTEKVSREKT IADAEERKVT AIQTEVFQKQ RECEADLLKA EPALVAATAA
3210 3220 3230 3240 3250
LNTLNRVNLS ELKAFPNPPI AVTNVTAAVM VLLAPRGRVP KDRSWKAAKV
3260 3270 3280 3290 3300
FMGKVDDFLQ ALINYDKEHI PENCLKVVNE HYLKDPEFNP NLIRTKSFAA
3310 3320 3330 3340 3350
AGLCAWVINI IKFYEVYCDV EPKRQALAQA NLELAAATEK LEAIRKKLVD
3360 3370 3380 3390 3400
LDRNLSRLTA SFEKATAEKV RCQEEVNQTN KTIKLANRLV KELEAKKIRW
3410 3420 3430 3440 3450
GQSIKSFEAQ EKTLCGDVLL TAAFVSYVGP FTRQYRQELV HCKWVPFLQQ
3460 3470 3480 3490 3500
KVSIPLTEGL DLISMLTDDA TIAAWNNEGL PSDRMSTENA AILTHCERWP
3510 3520 3530 3540 3550
LVIDPQQQGI KWIKNKYGMD LKVTHLGQKG FLNAIETALA FGDVILIENL
3560 3570 3580 3590 3600
EETIDPVLDP LLGRNTIKKG KYIRIGDKEC EFNKNFRLIL HTKLANPHYK
3610 3620 3630 3640 3650
PELQAQTTLL NFTVTEDGLE AQLLAEVVSI ERPDLEKLKL VLTKHQNDFK
3660 3670 3680 3690 3700
IELKYLEDDL LLRLSAAEGS FLDDTKLVER LEATKTTVAE IEHKVIEAKE
3710 3720 3730 3740 3750
NERKINEARE CYRPLAARAS LLYFVINDLQ KINPLYQFSL KAFNVLFHRA
3760 3770 3780 3790 3800
IEQADKVEDM QGRISILMES ITHAVFLYTS QALFEKDKLT FLSQMAFQIL
3810 3820 3830 3840 3850
LRKKEIDPLE LDFLLRFTVE HTHLSPVDFL TSQSWSAIKA IAVMEEFRGI
3860 3870 3880 3890 3900
DRDVEGSAKQ WRKWVESECP EKEKLPQEWK KKSLIQKLIL LRAMRPDRMT
3910 3920 3930 3940 3950
YALRNFVEEK LGAKYVERTR LDLVKAFEES SPATPIFFIL SPGVDALKDL
3960 3970 3980 3990 4000
EILGKRLGFT IDSGKFHNVS LGQGQETVAE VALEKASKGG HWVILQNVHL
4010 4020 4030 4040 4050
VAKWLGTLEK LLERFSQGSH RDYRVFMSAE SAPTPDEHII PQGLLENSIK
4060 4070 4080 4090 4100
ITNEPPTGML ANLHAALYNF DQDTLEICSK EQEFKSILFS LCYFHACVAG
4110 4120 4130 4140 4150
RLRFGPQGWS RSYPFNPGDL TICASVLYNY LEANSKVPWE DLRYLFGEIM
4160 4170 4180 4190 4200
YGGHITDDWD RKLCRVYLEE FMNPSLTEDE LMLAPGFAAP PYLDYAGYHQ
4210 4220 4230 4240 4250
YIEEMLPPES PALYGLHPNA EIEFLTVTSN TLFRTLLEMQ PRNALSGDEL
4260 4270 4280 4290 4300
GQSTEEKVKN VLDDILEKLP EEFNMAEIMQ KNSNRSPYVL VCFQECERMN
4310 4320 4330 4340 4350
ILIREIRISL EQLDLSLKGE LALSPAVEAQ QFALSYDTVP DTWSKLAYPS
4360 4370 4380 4390 4400
TYGLAQWFND LLLRCRELDT WTQDLTLPAV VWLSGFFNPQ SFLTAIMQTM
4410 4420 4430 4440 4450
ARKNEWPLDK TRLTADVTKK TKEDYGHPPR EGAYLHGLFM EGARWDTQAG
4460 4470 4480 4490 4500
TIVEARLKEL ACPMPVIFAK ATPVDRQETK QTYECPVYRT KLRGPSYIWT
4510 4520
FRLKSEEKTA KWVLAGVALL LEA
Length:4,523
Mass (Da):521,043
Last modified:November 2, 2010 - v3
Checksum:i9407A3DBDD1AC86E
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 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 varianti1640 – 16401D → G.1 Publication
Corresponds to variant rs17144835 [ dbSNP | Ensembl ].
VAR_013856
Natural varianti2593 – 25931Y → H.
Corresponds to variant rs2003417 [ dbSNP | Ensembl ].
VAR_060141
Natural varianti2641 – 26411S → N.2 Publications
Corresponds to variant rs9639393 [ dbSNP | Ensembl ].
VAR_013857
Natural varianti2682 – 26821I → V.
VAR_013858
Natural varianti3004 – 30041R → Q in CILD7; not proven to be pathogenic. 1 Publication
Corresponds to variant rs35865357 [ dbSNP | Ensembl ].
VAR_013859
Natural varianti3474 – 34741A → T.1 Publication
Corresponds to variant rs2214326 [ dbSNP | Ensembl ].
VAR_013860
Natural varianti3715 – 37151L → V.2 Publications
Corresponds to variant rs4722064 [ dbSNP | Ensembl ].
VAR_013861
Natural varianti3765 – 37651S → P.1 Publication
Corresponds to variant rs17145720 [ dbSNP | Ensembl ].
VAR_013862
Natural varianti4172 – 41721M → V.2 Publications
Corresponds to variant rs6461613 [ dbSNP | Ensembl ].
VAR_042946
Natural varianti4177 – 41771T → I.2 Publications
Corresponds to variant rs12537531 [ dbSNP | Ensembl ].
VAR_013863

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
RefSeqi NP_001264044.1. NM_001277115.1.
UniGenei Hs.520245.
Hs.744069.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114244. 1 interaction.
STRINGi 9606.ENSP00000387188.

PTM databases

PhosphoSitei Q96DT5.

Polymorphism databases

DMDMi 311033455.

Proteomic databases

PaxDbi Q96DT5.
PRIDEi Q96DT5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000328843 ; ENSP00000330671 ; ENSG00000105877 .
GeneIDi 8701.
KEGGi hsa:8701.
UCSCi uc031swp.1. human.

Organism-specific databases

CTDi 8701.
GeneCardsi GC07P021582.
GeneReviewsi DNAH11.
H-InvDB HIX0006509.
HIX0167830.
HGNCi HGNC:2942. DNAH11.
HPAi HPA045880.
MIMi 244400. phenotype.
603339. gene.
611884. phenotype.
neXtProti NX_Q96DT5.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA27396.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5245.
HOGENOMi HOG000237309.
HOVERGENi HBG107831.
InParanoidi Q96DT5.
OrthoDBi EOG7K9K21.
PhylomeDBi Q96DT5.
TreeFami TF316836.

Miscellaneous databases

ChiTaRSi DNAH11. human.
GeneWikii DNAH11.
GenomeRNAii 8701.
NextBioi 32621.
PROi Q96DT5.
SOURCEi Search...

Gene expression databases

Bgeei Q96DT5.
CleanExi HS_DNAH11.
ExpressionAtlasi Q96DT5. baseline and differential.
Genevestigatori Q96DT5.

Family and domain databases

Gene3Di 3.40.50.300. 4 hits.
InterProi 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 ]
PANTHERi PTHR10676. PTHR10676. 1 hit.
Pfami 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 ]
SMARTi SM00382. AAA. 4 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 5 hits.
ProtoNeti Search...

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-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. Cited for: INVOLVEMENT IN CILD7, INVOLVEMENT IN KTGS, VARIANTS ALA-1023; ALA-1038; ASN-2641; VAL-3715; VAL-4172 AND ILE-4177.

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: November 2, 2010
Last modified: October 29, 2014
This is version 122 of the entry and version 3 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