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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 – 19078ATP Reviewed prediction
Nucleotide bindingi2181 – 21888ATP Reviewed prediction
Nucleotide bindingi2517 – 25248ATP Reviewed prediction
Nucleotide bindingi2862 – 28698ATP Reviewed prediction

GO - Molecular functioni

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

GO - Biological processi

  1. cilium or flagellum-dependent cell motility Source: Ensembl
  2. determination of left/right symmetry Source: Ensembl
  3. 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. axonemal dynein complex Source: Ensembl
  2. 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).
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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, axonemal
PRO_0000114633Add
BLAST

Proteomic databases

PaxDbiQ96DT5.
PRIDEiQ96DT5.

PTM databases

PhosphoSiteiQ96DT5.

Expressioni

Gene expression databases

ArrayExpressiQ96DT5.
BgeeiQ96DT5.
CleanExiHS_DNAH11.
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 – 18611861Stem By similarity
Add
BLAST
Regioni1862 – 2083222AAA 1 By similarity
Add
BLAST
Regioni2143 – 2373231AAA 2 By similarity
Add
BLAST
Regioni2479 – 2726248AAA 3 By similarity
Add
BLAST
Regioni2824 – 3073250AAA 4 By similarity
Add
BLAST
Regioni3079 – 3410332Stalk By similarity
Add
BLAST
Regioni3466 – 3693228AAA 5 By similarity
Add
BLAST
Regioni3903 – 4129227AAA 6 By similarity
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1274 – 132754 Reviewed prediction
Add
BLAST
Coiled coili3079 – 314365 Reviewed prediction
Add
BLAST
Coiled coili3319 – 341092 Reviewed prediction
Add
BLAST
Coiled coili3675 – 371036 Reviewed prediction
Add
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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG5245.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
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

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MAAQVAAREA RDFREAPTLR LTSGAGLEAV GAVELEEEEE NEEEAAARRA     50
RSFAQDARVR FLGGRLAMML GFTEEKWSQY LESEDNRQVL GEFLESTSPA 100
CLVFSFAASG RLAASQEIPR DANHKLVFIS KKITESIGVN DFSQVVLFGE 150
LPALSLGHVS AFLDEILVPV LSNKNNHKSW SCFTSQDMEY HIEVMKKKMY 200
IFRGKMSRRT LLPIPTVAGK MDLDQNCSEN KPPSNERIIL HAIESVVIEW 250
SHQIQEIIER DSVQRLLNGL HLSPQAELDF WMMRRENLSC IYDQLQAPVV 300
LKMVKILTTK QSSYFPTLKD IFLAVENALL EAQDVELYLR PLRRHIQCLQ 350
ETEFPQTRIL IAPLFHTICL IWSHSKFYNT PARVIVLLQE FCNLFINQAT 400
AYLSPEDLLR GEIEESLEKV QVAVNILKTF KNSFFNYRKK LASYFMGRKL 450
RPWDFQSHLV FCRFDKFLDR LIKIEDIFAT TLEFEKLERL EFGGTKGAIL 500
NGQVHEMSEE LMELCKLFKQ STYDPSDCTN MEFESDYVAF KSKTLEFDRR 550
LGTIICEAFF NCNGLEAAFK LLTIFGNFLE KPVVMEIFSL HYSTLVHMFN 600
TELDVCKQLY NEHMKQIECG HVVLNKNMPF TSGNMKWAQQ VLQRLQMFWS 650
NFASLRYLFL GNPDHALVYQ KYVEMTTLLD QFESRIYNEW KSNVDEICEF 700
NLNQPLVKFS AINGLLCVNF DPKLVAVLRE VKYLLMLKKQ DIPDSALAIF 750
KKRNTILKYI GNLDLLVQGY NKLKQTLLEV EYPLIEDELR AIDEQLTAAT 800
TWLTWQDDCW GYIERVRAAT SELEHRVERT QKNVKVIQQT MRGWARCVLP 850
PRREHRREAA FTLEDKGDLF TKKYKLIQGD GCKIHNLVEE NRKLFKANPS 900
LDTWKIYVEF IDDIVVEGFF QAIMHDLDFF LKNTEKQLKP APFFQAQMIL 950
LPPEIVFKPS LDREAGDGFY DLVEEMLCNS FRMSAQMNRI ATHLEIKNYQ 1000
NDMDNMLGLA EVRQEIMNRV VNVINKVLDF RNTLETHTYL WVDDRAEFMK 1050
HFLLYGHAVS SDEMDAHANE EIPEQPPTLE QFKEQIDIYE ALYVQMSKFE 1100
DFRVFDSWFK VDMKPFKVSL LTIIKKWSWM FQEHLLRFVI DSLNELQEFI 1150
KETDSGLQRE LNEGDHDGLV DIMVHLLAVR SRQRATDELF EPLKETITLL 1200
ESYGQKMPEQ VYIQLEELPE RWETTKKIAA TVRHEVSPLH NAEVTLIRKK 1250
CILFDAKQAE FRERFRHYAP LGFNAENPYT ALDKANEELE ALEEEMLQMQ 1300
ESTRLFEVAL PEYKQMKQCR KEIKLLKGLW DVIIYVRRSI DNWTKTQWRQ 1350
IHVEQMDVEL RRFAKASSIT EIWSLNKEVR VWDAYTGLEG TVKDMTASLR 1400
AITELQSPAL RDRHWHQLMK AIGVKFLINE ATTLADLLAL RLHRVEDDVR 1450
RIVDKAVKEL GTEKVITEIS QTWATMKFSY EVHYRTGIPL LKSDEQLFET 1500
LEHNQVQLQT LLQSKYVEYF IEQVLSWQNK LNIADLVIFT WMEVQRTWSH 1550
LESIFVCSED IRIQLVKDAR RFDGVDAEFK ELMFKTAKVE NVLEATCRPN 1600
LYEKLKDLQS RLSLCEKALA EYLETKRIAF PRFYFVSSAD LLDILSKGAQ 1650
PKQVTCHLAK LFDSIADLQF EDNQDVSAHR AVGMYSKEKE YVPFQAECEC 1700
VGHVETWLLQ LEQTMQETVR HSITEAIVAY EEKPRELWIF DFPAQVALTS 1750
SQIWWTTDVG IAFSRLEEGY ETALKDFHKK QISQLNTLIT LLLGELPPGD 1800
RQKIMTICTI DVHARDVVAK LISQKQVVVS PQAFTWLSQL RHRWEDTQKH 1850
CFVNICDAQF QYFYEYLGNS PRLVITPLTD RCYITLTQSL HLTMSGAPAG 1900
PAGTGKTETT KDLGRALGMM VYVFNCSEQM DYKSIGNIYK GLVQTGAWGC 1950
FDEFNRISVE VLSVVAVQVK MIHDAIRNRK KRFVFLGEAI TLKPSVGIFI 2000
TMNPGYAGRT ELPENLKALF RPCAMVAPDI ELICEILLVA EGFVDARALA 2050
RKFITLYTLC KELLSKQDHY DWGLRAIKSV LVVAGSLKRG DKNRPEDQVL 2100
MRALRDFNMP KIVTDDIPVF LGLVGDLFPA LDVPRRRKLH FEQMVRQSTL 2150
ELRLQPEESF ILKVVQLEEL LAVRHSVFVV GNAGTGKSKI LRTLNRTYVN 2200
MKQKPVWNDL NPKAVTTDEL FGFIHHATRE WKDGKIVYSY FIGLFSSILR 2250
EQANLKHDGP KWIVLDGDID PMWIESLNTV MDDNKVLTLA SNERIALTPF 2300
MRLLFEIHHL RSATPATVSR AGILYVNPQD LGWNPYVASW IDRRRHQSEK 2350
ANLTILFDKY VPACLDKLRT SFKTITSIPE SSLVQTLCVL LECLLTPENV 2400
PSDSPKEVYE VYFVFACIWA FGGTLLQDQI SDYQADFSRW WQKEMKAVKF 2450
PSQGTIFDYY VDHKTKKLLP WADKIAQFTM DPDVPLQTVL VHTTETARLR 2500
YFMELLLEKG KPLMLVGNAG VGKTVFVGDT LASLSEDYIV SRVPFNYYTT 2550
STALQKILEK PLEKKAGHNY GPGGNKKLIY FIDDMNMPEV DLYGTVQPHT 2600
LIRQHIDYGH WYDRQKVMLK EIHNCQYVAC MNPMVGSFTI SPRLQRHFTV 2650
FAFNFPSLDA LNTIYGQIFS FHFQQQAFAP SILRSGPTLI QATIAFHQTM 2700
MCNFLPTAIK FHYIFNLRDL SNVFQGILFA SPECLKGPLD LIHLWLHESA 2750
RVYGDKLIDK KDCDLFQRRM LETAYKYFEG IDSHMLLQQP LIYCHFADRG 2800
KDPHYMPVKD WEVLKTILTE TLDNYNELNA AMHLVLFEDA MQHVCRISRI 2850
LRTPQGCALL VGVGGSGKQS LSRLAAYLRG LEVFQITLTE GYGIQELRVD 2900
LANLYIRTGA KNMPTVFLLT DAQVLDESFL VLINDLLASG EIPDLFSDED 2950
VDKIISGIHN EVHALGMVDS RENCWKFFMA RVRLQLKIIL CFSPVGRTLR 3000
VRARKFPAIV NCTAIDWFHA WPQEALVSVS RRFIEETKGI EPVHKDSISL 3050
FMAHVHTTVN EMSTRYYQNE RRHNYTTPKS FLEQISLFKN LLKKKQNEVS 3100
EKKERLVNGI QKLKTTASQV GDLKARLASQ EAELQLRNHD AEALITKIGL 3150
QTEKVSREKT IADAEERKVT AIQTEVFQKQ RECEADLLKA EPALVAATAA 3200
LNTLNRVNLS ELKAFPNPPI AVTNVTAAVM VLLAPRGRVP KDRSWKAAKV 3250
FMGKVDDFLQ ALINYDKEHI PENCLKVVNE HYLKDPEFNP NLIRTKSFAA 3300
AGLCAWVINI IKFYEVYCDV EPKRQALAQA NLELAAATEK LEAIRKKLVD 3350
LDRNLSRLTA SFEKATAEKV RCQEEVNQTN KTIKLANRLV KELEAKKIRW 3400
GQSIKSFEAQ EKTLCGDVLL TAAFVSYVGP FTRQYRQELV HCKWVPFLQQ 3450
KVSIPLTEGL DLISMLTDDA TIAAWNNEGL PSDRMSTENA AILTHCERWP 3500
LVIDPQQQGI KWIKNKYGMD LKVTHLGQKG FLNAIETALA FGDVILIENL 3550
EETIDPVLDP LLGRNTIKKG KYIRIGDKEC EFNKNFRLIL HTKLANPHYK 3600
PELQAQTTLL NFTVTEDGLE AQLLAEVVSI ERPDLEKLKL VLTKHQNDFK 3650
IELKYLEDDL LLRLSAAEGS FLDDTKLVER LEATKTTVAE IEHKVIEAKE 3700
NERKINEARE CYRPLAARAS LLYFVINDLQ KINPLYQFSL KAFNVLFHRA 3750
IEQADKVEDM QGRISILMES ITHAVFLYTS QALFEKDKLT FLSQMAFQIL 3800
LRKKEIDPLE LDFLLRFTVE HTHLSPVDFL TSQSWSAIKA IAVMEEFRGI 3850
DRDVEGSAKQ WRKWVESECP EKEKLPQEWK KKSLIQKLIL LRAMRPDRMT 3900
YALRNFVEEK LGAKYVERTR LDLVKAFEES SPATPIFFIL SPGVDALKDL 3950
EILGKRLGFT IDSGKFHNVS LGQGQETVAE VALEKASKGG HWVILQNVHL 4000
VAKWLGTLEK LLERFSQGSH RDYRVFMSAE SAPTPDEHII PQGLLENSIK 4050
ITNEPPTGML ANLHAALYNF DQDTLEICSK EQEFKSILFS LCYFHACVAG 4100
RLRFGPQGWS RSYPFNPGDL TICASVLYNY LEANSKVPWE DLRYLFGEIM 4150
YGGHITDDWD RKLCRVYLEE FMNPSLTEDE LMLAPGFAAP PYLDYAGYHQ 4200
YIEEMLPPES PALYGLHPNA EIEFLTVTSN TLFRTLLEMQ PRNALSGDEL 4250
GQSTEEKVKN VLDDILEKLP EEFNMAEIMQ KNSNRSPYVL VCFQECERMN 4300
ILIREIRISL EQLDLSLKGE LALSPAVEAQ QFALSYDTVP DTWSKLAYPS 4350
TYGLAQWFND LLLRCRELDT WTQDLTLPAV VWLSGFFNPQ SFLTAIMQTM 4400
ARKNEWPLDK TRLTADVTKK TKEDYGHPPR EGAYLHGLFM EGARWDTQAG 4450
TIVEARLKEL ACPMPVIFAK ATPVDRQETK QTYECPVYRT KLRGPSYIWT 4500
FRLKSEEKTA KWVLAGVALL LEA 4523
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...

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.
OrthoDBi EOG7K9K21.
PhylomeDBi Q96DT5.
TreeFami TF316836.

Miscellaneous databases

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

Gene expression databases

ArrayExpressi Q96DT5.
Bgeei Q96DT5.
CleanExi HS_DNAH11.
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: July 9, 2014
This is version 120 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

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