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Q96DT5 (DYH11_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dynein heavy chain 11, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 11
Ciliary dynein heavy chain 11
Gene names
Name:DNAH11
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4523 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

Subunit structure

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

Subcellular location

Cytoplasmcytoskeletoncilium axoneme.

Domain

Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.

Involvement in disease

Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4

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. Ref.1 Ref.4

Sequence similarities

Belongs to the dynein heavy chain family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 45234523Dynein heavy chain 11, axonemal
PRO_0000114633

Regions

Nucleotide binding1900 – 19078ATP Potential
Nucleotide binding2181 – 21888ATP Potential
Nucleotide binding2517 – 25248ATP Potential
Nucleotide binding2862 – 28698ATP Potential
Region1 – 18611861Stem By similarity
Region1862 – 2083222AAA 1 By similarity
Region2143 – 2373231AAA 2 By similarity
Region2479 – 2726248AAA 3 By similarity
Region2824 – 3073250AAA 4 By similarity
Region3079 – 3410332Stalk By similarity
Region3466 – 3693228AAA 5 By similarity
Region3903 – 4129227AAA 6 By similarity
Coiled coil1274 – 132754 Potential
Coiled coil3079 – 314365 Potential
Coiled coil3319 – 341092 Potential
Coiled coil3675 – 371036 Potential

Natural variations

Natural variant341E → L Requires 2 nucleotide substitutions. Ref.1
VAR_013851
Natural variant341E → V.
Corresponds to variant rs2285944 [ dbSNP | Ensembl ].
VAR_042944
Natural variant6391Q → R. Ref.1
Corresponds to variant rs12670130 [ dbSNP | Ensembl ].
VAR_013852
Natural variant6541S → C. Ref.1
VAR_013853
Natural variant10231V → A. Ref.1 Ref.4
Corresponds to variant rs10269582 [ dbSNP | Ensembl ].
VAR_013854
Natural variant10381T → A. Ref.1 Ref.4
Corresponds to variant rs10224537 [ dbSNP | Ensembl ].
VAR_013855
Natural variant13161M → V.
Corresponds to variant rs17144788 [ dbSNP | Ensembl ].
VAR_042945
Natural variant16401D → G. Ref.1
Corresponds to variant rs17144835 [ dbSNP | Ensembl ].
VAR_013856
Natural variant25931Y → H.
Corresponds to variant rs2003417 [ dbSNP | Ensembl ].
VAR_060141
Natural variant26411S → N. Ref.1 Ref.4
Corresponds to variant rs9639393 [ dbSNP | Ensembl ].
VAR_013857
Natural variant26821I → V.
VAR_013858
Natural variant30041R → Q in CILD7; not proven to be pathogenic. Ref.1
Corresponds to variant rs35865357 [ dbSNP | Ensembl ].
VAR_013859
Natural variant34741A → T. Ref.1
Corresponds to variant rs2214326 [ dbSNP | Ensembl ].
VAR_013860
Natural variant37151L → V. Ref.1 Ref.4
Corresponds to variant rs4722064 [ dbSNP | Ensembl ].
VAR_013861
Natural variant37651S → P. Ref.1
Corresponds to variant rs17145720 [ dbSNP | Ensembl ].
VAR_013862
Natural variant41721M → V. Ref.1 Ref.4
Corresponds to variant rs6461613 [ dbSNP | Ensembl ].
VAR_042946
Natural variant41771T → I. Ref.1 Ref.4
Corresponds to variant rs12537531 [ dbSNP | Ensembl ].
VAR_013863

Sequences

Sequence LengthMass (Da)Tools
Q96DT5 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: 9407A3DBDD1AC86E

FASTA4,523521,043
        10         20         30         40         50         60 
MAAQVAAREA RDFREAPTLR LTSGAGLEAV GAVELEEEEE NEEEAAARRA RSFAQDARVR 

        70         80         90        100        110        120 
FLGGRLAMML GFTEEKWSQY LESEDNRQVL GEFLESTSPA CLVFSFAASG RLAASQEIPR 

       130        140        150        160        170        180 
DANHKLVFIS KKITESIGVN DFSQVVLFGE LPALSLGHVS AFLDEILVPV LSNKNNHKSW 

       190        200        210        220        230        240 
SCFTSQDMEY HIEVMKKKMY IFRGKMSRRT LLPIPTVAGK MDLDQNCSEN KPPSNERIIL 

       250        260        270        280        290        300 
HAIESVVIEW SHQIQEIIER DSVQRLLNGL HLSPQAELDF WMMRRENLSC IYDQLQAPVV 

       310        320        330        340        350        360 
LKMVKILTTK QSSYFPTLKD IFLAVENALL EAQDVELYLR PLRRHIQCLQ ETEFPQTRIL 

       370        380        390        400        410        420 
IAPLFHTICL IWSHSKFYNT PARVIVLLQE FCNLFINQAT AYLSPEDLLR GEIEESLEKV 

       430        440        450        460        470        480 
QVAVNILKTF KNSFFNYRKK LASYFMGRKL RPWDFQSHLV FCRFDKFLDR LIKIEDIFAT 

       490        500        510        520        530        540 
TLEFEKLERL EFGGTKGAIL NGQVHEMSEE LMELCKLFKQ STYDPSDCTN MEFESDYVAF 

       550        560        570        580        590        600 
KSKTLEFDRR LGTIICEAFF NCNGLEAAFK LLTIFGNFLE KPVVMEIFSL HYSTLVHMFN 

       610        620        630        640        650        660 
TELDVCKQLY NEHMKQIECG HVVLNKNMPF TSGNMKWAQQ VLQRLQMFWS NFASLRYLFL 

       670        680        690        700        710        720 
GNPDHALVYQ KYVEMTTLLD QFESRIYNEW KSNVDEICEF NLNQPLVKFS AINGLLCVNF 

       730        740        750        760        770        780 
DPKLVAVLRE VKYLLMLKKQ DIPDSALAIF KKRNTILKYI GNLDLLVQGY NKLKQTLLEV 

       790        800        810        820        830        840 
EYPLIEDELR AIDEQLTAAT TWLTWQDDCW GYIERVRAAT SELEHRVERT QKNVKVIQQT 

       850        860        870        880        890        900 
MRGWARCVLP PRREHRREAA FTLEDKGDLF TKKYKLIQGD GCKIHNLVEE NRKLFKANPS 

       910        920        930        940        950        960 
LDTWKIYVEF IDDIVVEGFF QAIMHDLDFF LKNTEKQLKP APFFQAQMIL LPPEIVFKPS 

       970        980        990       1000       1010       1020 
LDREAGDGFY DLVEEMLCNS FRMSAQMNRI ATHLEIKNYQ NDMDNMLGLA EVRQEIMNRV 

      1030       1040       1050       1060       1070       1080 
VNVINKVLDF RNTLETHTYL WVDDRAEFMK HFLLYGHAVS SDEMDAHANE EIPEQPPTLE 

      1090       1100       1110       1120       1130       1140 
QFKEQIDIYE ALYVQMSKFE DFRVFDSWFK VDMKPFKVSL LTIIKKWSWM FQEHLLRFVI 

      1150       1160       1170       1180       1190       1200 
DSLNELQEFI KETDSGLQRE LNEGDHDGLV DIMVHLLAVR SRQRATDELF EPLKETITLL 

      1210       1220       1230       1240       1250       1260 
ESYGQKMPEQ VYIQLEELPE RWETTKKIAA TVRHEVSPLH NAEVTLIRKK CILFDAKQAE 

      1270       1280       1290       1300       1310       1320 
FRERFRHYAP LGFNAENPYT ALDKANEELE ALEEEMLQMQ ESTRLFEVAL PEYKQMKQCR 

      1330       1340       1350       1360       1370       1380 
KEIKLLKGLW DVIIYVRRSI DNWTKTQWRQ IHVEQMDVEL RRFAKASSIT EIWSLNKEVR 

      1390       1400       1410       1420       1430       1440 
VWDAYTGLEG TVKDMTASLR AITELQSPAL RDRHWHQLMK AIGVKFLINE ATTLADLLAL 

      1450       1460       1470       1480       1490       1500 
RLHRVEDDVR RIVDKAVKEL GTEKVITEIS QTWATMKFSY EVHYRTGIPL LKSDEQLFET 

      1510       1520       1530       1540       1550       1560 
LEHNQVQLQT LLQSKYVEYF IEQVLSWQNK LNIADLVIFT WMEVQRTWSH LESIFVCSED 

      1570       1580       1590       1600       1610       1620 
IRIQLVKDAR RFDGVDAEFK ELMFKTAKVE NVLEATCRPN LYEKLKDLQS RLSLCEKALA 

      1630       1640       1650       1660       1670       1680 
EYLETKRIAF PRFYFVSSAD LLDILSKGAQ PKQVTCHLAK LFDSIADLQF EDNQDVSAHR 

      1690       1700       1710       1720       1730       1740 
AVGMYSKEKE YVPFQAECEC VGHVETWLLQ LEQTMQETVR HSITEAIVAY EEKPRELWIF 

      1750       1760       1770       1780       1790       1800 
DFPAQVALTS SQIWWTTDVG IAFSRLEEGY ETALKDFHKK QISQLNTLIT LLLGELPPGD 

      1810       1820       1830       1840       1850       1860 
RQKIMTICTI DVHARDVVAK LISQKQVVVS PQAFTWLSQL RHRWEDTQKH CFVNICDAQF 

      1870       1880       1890       1900       1910       1920 
QYFYEYLGNS PRLVITPLTD RCYITLTQSL HLTMSGAPAG PAGTGKTETT KDLGRALGMM 

      1930       1940       1950       1960       1970       1980 
VYVFNCSEQM DYKSIGNIYK GLVQTGAWGC FDEFNRISVE VLSVVAVQVK MIHDAIRNRK 

      1990       2000       2010       2020       2030       2040 
KRFVFLGEAI TLKPSVGIFI TMNPGYAGRT ELPENLKALF RPCAMVAPDI ELICEILLVA 

      2050       2060       2070       2080       2090       2100 
EGFVDARALA RKFITLYTLC KELLSKQDHY DWGLRAIKSV LVVAGSLKRG DKNRPEDQVL 

      2110       2120       2130       2140       2150       2160 
MRALRDFNMP KIVTDDIPVF LGLVGDLFPA LDVPRRRKLH FEQMVRQSTL ELRLQPEESF 

      2170       2180       2190       2200       2210       2220 
ILKVVQLEEL LAVRHSVFVV GNAGTGKSKI LRTLNRTYVN MKQKPVWNDL NPKAVTTDEL 

      2230       2240       2250       2260       2270       2280 
FGFIHHATRE WKDGKIVYSY FIGLFSSILR EQANLKHDGP KWIVLDGDID PMWIESLNTV 

      2290       2300       2310       2320       2330       2340 
MDDNKVLTLA SNERIALTPF MRLLFEIHHL RSATPATVSR AGILYVNPQD LGWNPYVASW 

      2350       2360       2370       2380       2390       2400 
IDRRRHQSEK ANLTILFDKY VPACLDKLRT SFKTITSIPE SSLVQTLCVL LECLLTPENV 

      2410       2420       2430       2440       2450       2460 
PSDSPKEVYE VYFVFACIWA FGGTLLQDQI SDYQADFSRW WQKEMKAVKF PSQGTIFDYY 

      2470       2480       2490       2500       2510       2520 
VDHKTKKLLP WADKIAQFTM DPDVPLQTVL VHTTETARLR YFMELLLEKG KPLMLVGNAG 

      2530       2540       2550       2560       2570       2580 
VGKTVFVGDT LASLSEDYIV SRVPFNYYTT STALQKILEK PLEKKAGHNY GPGGNKKLIY 

      2590       2600       2610       2620       2630       2640 
FIDDMNMPEV DLYGTVQPHT LIRQHIDYGH WYDRQKVMLK EIHNCQYVAC MNPMVGSFTI 

      2650       2660       2670       2680       2690       2700 
SPRLQRHFTV FAFNFPSLDA LNTIYGQIFS FHFQQQAFAP SILRSGPTLI QATIAFHQTM 

      2710       2720       2730       2740       2750       2760 
MCNFLPTAIK FHYIFNLRDL SNVFQGILFA SPECLKGPLD LIHLWLHESA RVYGDKLIDK 

      2770       2780       2790       2800       2810       2820 
KDCDLFQRRM LETAYKYFEG IDSHMLLQQP LIYCHFADRG KDPHYMPVKD WEVLKTILTE 

      2830       2840       2850       2860       2870       2880 
TLDNYNELNA AMHLVLFEDA MQHVCRISRI LRTPQGCALL VGVGGSGKQS LSRLAAYLRG 

      2890       2900       2910       2920       2930       2940 
LEVFQITLTE GYGIQELRVD LANLYIRTGA KNMPTVFLLT DAQVLDESFL VLINDLLASG 

      2950       2960       2970       2980       2990       3000 
EIPDLFSDED VDKIISGIHN EVHALGMVDS RENCWKFFMA RVRLQLKIIL CFSPVGRTLR 

      3010       3020       3030       3040       3050       3060 
VRARKFPAIV NCTAIDWFHA WPQEALVSVS RRFIEETKGI EPVHKDSISL FMAHVHTTVN 

      3070       3080       3090       3100       3110       3120 
EMSTRYYQNE RRHNYTTPKS FLEQISLFKN LLKKKQNEVS EKKERLVNGI QKLKTTASQV 

      3130       3140       3150       3160       3170       3180 
GDLKARLASQ EAELQLRNHD AEALITKIGL QTEKVSREKT IADAEERKVT AIQTEVFQKQ 

      3190       3200       3210       3220       3230       3240 
RECEADLLKA EPALVAATAA LNTLNRVNLS ELKAFPNPPI AVTNVTAAVM VLLAPRGRVP 

      3250       3260       3270       3280       3290       3300 
KDRSWKAAKV FMGKVDDFLQ ALINYDKEHI PENCLKVVNE HYLKDPEFNP NLIRTKSFAA 

      3310       3320       3330       3340       3350       3360 
AGLCAWVINI IKFYEVYCDV EPKRQALAQA NLELAAATEK LEAIRKKLVD LDRNLSRLTA 

      3370       3380       3390       3400       3410       3420 
SFEKATAEKV RCQEEVNQTN KTIKLANRLV KELEAKKIRW GQSIKSFEAQ EKTLCGDVLL 

      3430       3440       3450       3460       3470       3480 
TAAFVSYVGP FTRQYRQELV HCKWVPFLQQ KVSIPLTEGL DLISMLTDDA TIAAWNNEGL 

      3490       3500       3510       3520       3530       3540 
PSDRMSTENA AILTHCERWP LVIDPQQQGI KWIKNKYGMD LKVTHLGQKG FLNAIETALA 

      3550       3560       3570       3580       3590       3600 
FGDVILIENL EETIDPVLDP LLGRNTIKKG KYIRIGDKEC EFNKNFRLIL HTKLANPHYK 

      3610       3620       3630       3640       3650       3660 
PELQAQTTLL NFTVTEDGLE AQLLAEVVSI ERPDLEKLKL VLTKHQNDFK IELKYLEDDL 

      3670       3680       3690       3700       3710       3720 
LLRLSAAEGS FLDDTKLVER LEATKTTVAE IEHKVIEAKE NERKINEARE CYRPLAARAS 

      3730       3740       3750       3760       3770       3780 
LLYFVINDLQ KINPLYQFSL KAFNVLFHRA IEQADKVEDM QGRISILMES ITHAVFLYTS 

      3790       3800       3810       3820       3830       3840 
QALFEKDKLT FLSQMAFQIL LRKKEIDPLE LDFLLRFTVE HTHLSPVDFL TSQSWSAIKA 

      3850       3860       3870       3880       3890       3900 
IAVMEEFRGI DRDVEGSAKQ WRKWVESECP EKEKLPQEWK KKSLIQKLIL LRAMRPDRMT 

      3910       3920       3930       3940       3950       3960 
YALRNFVEEK LGAKYVERTR LDLVKAFEES SPATPIFFIL SPGVDALKDL EILGKRLGFT 

      3970       3980       3990       4000       4010       4020 
IDSGKFHNVS LGQGQETVAE VALEKASKGG HWVILQNVHL VAKWLGTLEK LLERFSQGSH 

      4030       4040       4050       4060       4070       4080 
RDYRVFMSAE SAPTPDEHII PQGLLENSIK ITNEPPTGML ANLHAALYNF DQDTLEICSK 

      4090       4100       4110       4120       4130       4140 
EQEFKSILFS LCYFHACVAG RLRFGPQGWS RSYPFNPGDL TICASVLYNY LEANSKVPWE 

      4150       4160       4170       4180       4190       4200 
DLRYLFGEIM YGGHITDDWD RKLCRVYLEE FMNPSLTEDE LMLAPGFAAP PYLDYAGYHQ 

      4210       4220       4230       4240       4250       4260 
YIEEMLPPES PALYGLHPNA EIEFLTVTSN TLFRTLLEMQ PRNALSGDEL GQSTEEKVKN 

      4270       4280       4290       4300       4310       4320 
VLDDILEKLP EEFNMAEIMQ KNSNRSPYVL VCFQECERMN ILIREIRISL EQLDLSLKGE 

      4330       4340       4350       4360       4370       4380 
LALSPAVEAQ QFALSYDTVP DTWSKLAYPS TYGLAQWFND LLLRCRELDT WTQDLTLPAV 

      4390       4400       4410       4420       4430       4440 
VWLSGFFNPQ SFLTAIMQTM ARKNEWPLDK TRLTADVTKK TKEDYGHPPR EGAYLHGLFM 

      4450       4460       4470       4480       4490       4500 
EGARWDTQAG TIVEARLKEL ACPMPVIFAK ATPVDRQETK QTYECPVYRT KLRGPSYIWT 

      4510       4520 
FRLKSEEKTA KWVLAGVALL LEA 

« Hide

References

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

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ320497 mRNA. Translation: CAC60121.1.
AC004595 Genomic DNA. No translation available.
AC102952 Genomic DNA. No translation available.
AC073102 Genomic DNA. No translation available.
AC013481 Genomic DNA. No translation available.
AC005078 Genomic DNA. No translation available.
AC004002 Genomic DNA. No translation available.
AC099653 Genomic DNA. No translation available.
AJ132087 mRNA. Translation: CAA10560.1.
RefSeqNP_001264044.1. NM_001277115.1.
UniGeneHs.520245.
Hs.744069.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114244. 1 interaction.
STRING9606.ENSP00000387188.

PTM databases

PhosphoSiteQ96DT5.

Polymorphism databases

DMDM311033455.

Proteomic databases

PaxDbQ96DT5.
PRIDEQ96DT5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000328843; ENSP00000330671; ENSG00000105877.
GeneID8701.
KEGGhsa:8701.
UCSCuc031swp.1. human.

Organism-specific databases

CTD8701.
GeneCardsGC07P021582.
GeneReviewsDNAH11.
H-InvDBHIX0006509.
HIX0167830.
HGNCHGNC:2942. DNAH11.
HPAHPA045880.
MIM244400. phenotype.
603339. gene.
611884. phenotype.
neXtProtNX_Q96DT5.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA27396.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5245.
HOGENOMHOG000237309.
HOVERGENHBG107831.
OrthoDBEOG7K9K21.
PhylomeDBQ96DT5.
TreeFamTF316836.

Gene expression databases

ArrayExpressQ96DT5.
BgeeQ96DT5.
CleanExHS_DNAH11.
GenevestigatorQ96DT5.

Family and domain databases

Gene3D3.40.50.300. 4 hits.
InterProIPR003593. 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]
PANTHERPTHR10676. PTHR10676. 1 hit.
PfamPF07728. 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]
SMARTSM00382. AAA. 4 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 5 hits.
ProtoNetSearch...

Other

ChiTaRSDNAH11. human.
GeneWikiDNAH11.
GenomeRNAi8701.
NextBio32621.
PROQ96DT5.
SOURCESearch...

Entry information

Entry nameDYH11_HUMAN
AccessionPrimary (citable) accession number: Q96DT5
Secondary accession number(s): Q9UJ82
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 120 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM