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Q8TE73 (DYH5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dynein heavy chain 5, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 5
Ciliary dynein heavy chain 5
Gene names
Name:DNAH5
Synonyms:DNAHC5, HL1, KIAA1603
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4624 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. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

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

Ciliary dyskinesia, primary, 3 (CILD3) [MIM:608644]: 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.2 Ref.6

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

Sequence similarities

Belongs to the dynein heavy chain family.

Sequence caution

The sequence BAB15543.1 differs from that shown. Reason: Erroneous initiation.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 46244624Dynein heavy chain 5, axonemal
PRO_0000114630

Regions

Nucleotide binding1980 – 19878ATP Potential
Nucleotide binding2262 – 22698ATP Potential
Region1 – 19411941Stem By similarity
Region1942 – 2164223AAA 1 By similarity
Region2224 – 2443220AAA 2 By similarity
Region2550 – 2803254AAA 3 By similarity
Region2916 – 3170255AAA 4 By similarity
Region3185 – 3482298Stalk By similarity
Region3567 – 3797231AAA 5 By similarity
Region4012 – 4226215AAA 6 By similarity
Coiled coil284 – 30522 Potential
Coiled coil740 – 82586 Potential
Coiled coil1435 – 146531 Potential
Coiled coil3195 – 3302108 Potential
Coiled coil3426 – 349166 Potential
Coiled coil3732 – 381786 Potential
Coiled coil4392 – 442029 Potential

Natural variations

Natural variant121H → Q.
Corresponds to variant rs339445 [ dbSNP | Ensembl ].
VAR_019603
Natural variant241G → E.
Corresponds to variant rs1530496 [ dbSNP | Ensembl ].
VAR_019604
Natural variant5581T → A.
Corresponds to variant rs1530498 [ dbSNP | Ensembl ].
VAR_019605
Natural variant5911L → R.
Corresponds to variant rs35090077 [ dbSNP | Ensembl ].
VAR_053840
Natural variant5911L → V.
Corresponds to variant rs35090077 [ dbSNP | Ensembl ].
VAR_053841
Natural variant6201Q → K.
Corresponds to variant rs34076967 [ dbSNP | Ensembl ].
VAR_053842
Natural variant7651K → N.
Corresponds to variant rs4701997 [ dbSNP | Ensembl ].
VAR_053843
Natural variant7661I → L.
Corresponds to variant rs4701997 [ dbSNP | Ensembl ].
VAR_027903
Natural variant10061S → G.
Corresponds to variant rs16902886 [ dbSNP | Ensembl ].
VAR_027904
Natural variant10811M → V.
Corresponds to variant rs16902880 [ dbSNP | Ensembl ].
VAR_027905
Natural variant17161R → L in CILD3. Ref.6
VAR_030705
Natural variant22641S → N in CILD3. Ref.6
VAR_030706
Natural variant23471E → K in CILD3. Ref.6
VAR_030707
Natural variant24251R → H.
Corresponds to variant rs35900306 [ dbSNP | Ensembl ].
VAR_053844
Natural variant24631Q → R.
Corresponds to variant rs10078391 [ dbSNP | Ensembl ].
VAR_019606
Natural variant25011R → P in CILD3. Ref.6
VAR_030708
Natural variant28431F → S in CILD3. Ref.6
VAR_030709
Natural variant28621L → F.
Corresponds to variant rs10513155 [ dbSNP | Ensembl ].
VAR_019607
Natural variant34091W → S in CILD3. Ref.6
VAR_030710
Natural variant35191G → R in KTGS. Ref.1
VAR_019608
Natural variant37911T → I.
Corresponds to variant rs17263496 [ dbSNP | Ensembl ].
VAR_027906
Natural variant38431S → L in CILD3. Ref.6
VAR_030711
Natural variant41341A → V. Ref.4
Corresponds to variant rs30168 [ dbSNP | Ensembl ].
VAR_019609
Natural variant42051G → V in CILD3. Ref.6
VAR_030712
Natural variant42201T → A.
Corresponds to variant rs2277046 [ dbSNP | Ensembl ].
VAR_019610
Natural variant44501I → V. Ref.4 Ref.5
Corresponds to variant rs3734110 [ dbSNP | Ensembl ].
VAR_019611

Experimental info

Sequence conflict20001Y → D in AAC50699. Ref.3
Sequence conflict20271S → A in AAL06603. Ref.2
Sequence conflict20271S → A in AAC50699. Ref.3
Sequence conflict22071D → N in AAL06603. Ref.2
Sequence conflict22271S → N in AAL06603. Ref.2
Sequence conflict22321E → K in AAL06603. Ref.2
Sequence conflict2248 – 22503LFE → QTK in AAL06603. Ref.2
Sequence conflict44291R → Q in BAB15543. Ref.5
Sequence conflict44511S → F in BAB15543. Ref.5
Sequence conflict45271A → T in BAB15543. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8TE73 [UniParc].

Last modified October 17, 2006. Version 3.
Checksum: B9BC9F20A4C581BE

FASTA4,624529,021
        10         20         30         40         50         60 
MFRIGRRQLW KHSVTRVLTQ RLKGEKEAKR ALLDARHNYL FAIVASCLDL NKTEVEDAIL 

        70         80         90        100        110        120 
EGNQIERIDQ LFAVGGLRHL MFYYQDVEEA ETGQLGSLGG VNLVSGKIKK PKVFVTEGND 

       130        140        150        160        170        180 
VALTGVCVFF IRTDPSKAIT PDNIHQEVSF NMLDAADGGL LNSVRRLLSD IFIPALRATS 

       190        200        210        220        230        240 
HGWGELEGLQ DAANIRQEFL SSLEGFVNVL SGAQESLKEK VNLRKCDILE LKTLKEPTDY 

       250        260        270        280        290        300 
LTLANNPETL GKIEDCMKVW IKQTEQVLAE NNQLLKEADD VGPRAELEHW KKRLSKFNYL 

       310        320        330        340        350        360 
LEQLKSPDVK AVLAVLAAAK SKLLKTWREM DIRITDATNE AKDNVKYLYT LEKCCDPLYS 

       370        380        390        400        410        420 
SDPLSMMDAI PTLINAIKMI YSISHYYNTS EKITSLFVKV TNQIISACKA YITNNGTASI 

       430        440        450        460        470        480 
WNQPQDVVEE KILSAIKLKQ EYQLCFHKTK QKLKQNPNAK QFDFSEMYIF GKFETFHRRL 

       490        500        510        520        530        540 
AKIIDIFTTL KTYSVLQDST IEGLEDMATK YQGIVATIKK KEYNFLDQRK MDFDQDYEEF 

       550        560        570        580        590        600 
CKQTNDLHNE LRKFMDVTFA KIQNTNQALR MLKKFERLNI PNLGIDDKYQ LILENYGADI 

       610        620        630        640        650        660 
DMISKLYTKQ KYDPPLARNQ PPIAGKILWA RQLFHRIQQP MQLFQQHPAV LSTAEAKPII 

       670        680        690        700        710        720 
RSYNRMAKVL LEFEVLFHRA WLRQIEEIHV GLEASLLVKA PGTGELFVNF DPQILILFRE 

       730        740        750        760        770        780 
TECMAQMGLE VSPLATSLFQ KRDRYKRNFS NMKMMLAEYQ RVKSKIPAAI EQLIVPHLAK 

       790        800        810        820        830        840 
VDEALQPGLA ALTWTSLNIE AYLENTFAKI KDLELLLDRV NDLIEFRIDA ILEEMSSTPL 

       850        860        870        880        890        900 
CQLPQEEPLT CEEFLQMTKD LCVNGAQILH FKSSLVEEAV NELVNMLLDV EVLSEEESEK 

       910        920        930        940        950        960 
ISNENSVNYK NESSAKREEG NFDTLTSSIN ARANALLLTT VTRKKKETEM LGEEARELLS 

       970        980        990       1000       1010       1020 
HFNHQNMDAL LKVTRNTLEA IRKRIHSSHT INFRDSNSAS NMKQNSLPIF RASVTLAIPN 

      1030       1040       1050       1060       1070       1080 
IVMAPALEDV QQTLNKAVEC IISVPKGVRQ WSSELLSKKK IQERKMAALQ SNEDSDSDVE 

      1090       1100       1110       1120       1130       1140 
MGENELQDTL EIASVNLPIP VQTKNYYKNV SENKEIVKLV SVLSTIINST KKEVITSMDC 

      1150       1160       1170       1180       1190       1200 
FKRYNHIWQK GKEEAIKTFI TQSPLLSEFE SQILYFQNLE QEINAEPEYV CVGSIALYTA 

      1210       1220       1230       1240       1250       1260 
DLKFALTAET KAWMVVIGRH CNKKYRSEME NIFMLIEEFN KKLNRPIKDL DDIRIAMAAL 

      1270       1280       1290       1300       1310       1320 
KEIREEQISI DFQVGPIEES YALLNRYGLL IAREEIDKVD TLHYAWEKLL ARAGEVQNKL 

      1330       1340       1350       1360       1370       1380 
VSLQPSFKKE LISAVEVFLQ DCHQFYLDYD LNGPMASGLK PQEASDRLIM FQNQFDNIYR 

      1390       1400       1410       1420       1430       1440 
KYITYTGGEE LFGLPATQYP QLLEIKKQLN LLQKIYTLYN SVIETVNSYY DILWSEVNIE 

      1450       1460       1470       1480       1490       1500 
KINNELLEFQ NRCRKLPRAL KDWQAFLDLK KIIDDFSECC PLLEYMASKA MMERHWERIT 

      1510       1520       1530       1540       1550       1560 
TLTGHSLDVG NESFKLRNIM EAPLLKYKEE IEDICISAVK ERDIEQKLKQ VINEWDNKTF 

      1570       1580       1590       1600       1610       1620 
TFGSFKTRGE LLLRGDSTSE IIANMEDSLM LLGSLLSNRY NMPFKAQIQK WVQYLSNSTD 

      1630       1640       1650       1660       1670       1680 
IIESWMTVQN LWIYLEAVFV GGDIAKQLPK EAKRFSNIDK SWVKIMTRAH EVPSVVQCCV 

      1690       1700       1710       1720       1730       1740 
GDETLGQLLP HLLDQLEICQ KSLTGYLEKK RLCFPRFFFV SDPALLEILG QASDSHTIQA 

      1750       1760       1770       1780       1790       1800 
HLLNVFDNIK SVKFHEKIYD RILSISSQEG ETIELDKPVM AEGNVEVWLN SLLEESQSSL 

      1810       1820       1830       1840       1850       1860 
HLVIRQAAAN IQETGFQLTE FLSSFPAQVG LLGIQMIWTR DSEEALRNAK FDKKIMQKTN 

      1870       1880       1890       1900       1910       1920 
QAFLELLNTL IDVTTRDLSS TERVKYETLI TIHVHQRDIF DDLCHMHIKS PMDFEWLKQC 

      1930       1940       1950       1960       1970       1980 
RFYFNEDSDK MMIHITDVAF IYQNEFLGCT DRLVITPLTD RCYITLAQAL GMSMGGAPAG 

      1990       2000       2010       2020       2030       2040 
PAGTGKTETT KDMGRCLGKY VVVFNCSDQM DFRGLGRIFK GLAQSGSWGC FDEFNRIDLP 

      2050       2060       2070       2080       2090       2100 
VLSVAAQQIS IILTCKKEHK KSFIFTDGDN VTMNPEFGLF LTMNPGYAGR QELPENLKIN 

      2110       2120       2130       2140       2150       2160 
FRSVAMMVPD RQIIIRVKLA SCGFIDNVVL ARKFFTLYKL CEEQLSKQVH YDFGLRNILS 

      2170       2180       2190       2200       2210       2220 
VLRTLGAAKR ANPMDTESTI VMRVLRDMNL SKLIDEDEPL FLSLIEDLFP NILLDKAGYP 

      2230       2240       2250       2260       2270       2280 
ELEAAISRQV EEAGLINHPP WKLKVIQLFE TQRVRHGMMT LGPSGAGKTT CIHTLMRAMT 

      2290       2300       2310       2320       2330       2340 
DCGKPHREMR MNPKAITAPQ MFGRLDVATN DWTDGIFSTL WRKTLRAKKG EHIWIILDGP 

      2350       2360       2370       2380       2390       2400 
VDAIWIENLN SVLDDNKTLT LANGDRIPMA PNCKIIFEPH NIDNASPATV SRNGMVFMSS 

      2410       2420       2430       2440       2450       2460 
SILDWSPILE GFLKKRSPQE AEILRQLYTE SFPDLYRFCI QNLEYKMEVL EAFVITQSIN 

      2470       2480       2490       2500       2510       2520 
MLQGLIPLKE QGGEVSQAHL GRLFVFALLW SAGAALELDG RRRLELWLRS RPTGTLELPP 

      2530       2540       2550       2560       2570       2580 
PAGPGDTAFD YYVAPDGTWT HWNTRTQEYL YPSDTTPEYG SILVPNVDNV RTDFLIQTIA 

      2590       2600       2610       2620       2630       2640 
KQGKAVLLIG EQGTAKTVII KGFMSKYDPE CHMIKSLNFS SATTPLMFQR TIESYVDKRM 

      2650       2660       2670       2680       2690       2700 
GTTYGPPAGK KMTVFIDDVN MPIINEWGDQ VTNEIVRQLM EQNGFYNLEK PGEFTSIVDI 

      2710       2720       2730       2740       2750       2760 
QFLAAMIHPG GGRNDIPQRL KRQFSIFNCT LPSEASVDKI FGVIGVGHYC TQRGFSEEVR 

      2770       2780       2790       2800       2810       2820 
DSVTKLVPLT RRLWQMTKIK MLPTPAKFHY VFNLRDLSRV WQGMLNTTSE VIKEPNDLLK 

      2830       2840       2850       2860       2870       2880 
LWKHECKRVI ADRFTVSSDV TWFDKALVSL VEEEFGEEKK LLVDCGIDTY FVDFLRDAPE 

      2890       2900       2910       2920       2930       2940 
AAGETSEEAD AETPKIYEPI ESFSHLKERL NMFLQLYNES IRGAGMDMVF FADAMVHLVK 

      2950       2960       2970       2980       2990       3000 
ISRVIRTPQG NALLVGVGGS GKQSLTRLAS FIAGYVSFQI TLTRSYNTSN LMEDLKVLYR 

      3010       3020       3030       3040       3050       3060 
TAGQQGKGIT FIFTDNEIKD ESFLEYMNNV LSSGEVSNLF ARDEIDEINS DLASVMKKEF 

      3070       3080       3090       3100       3110       3120 
PRCLPTNENL HDYFMSRVRQ NLHIVLCFSP VGEKFRNRAL KFPALISGCT IDWFSRWPKD 

      3130       3140       3150       3160       3170       3180 
ALVAVSEHFL TSYDIDCSLE IKKEVVQCMG SFQDGVAEKC VDYFQRFRRS THVTPKSYLS 

      3190       3200       3210       3220       3230       3240 
FIQGYKFIYG EKHVEVRTLA NRMNTGLEKL KEASESVAAL SKELEAKEKE LQVANDKADM 

      3250       3260       3270       3280       3290       3300 
VLKEVTMKAQ AAEKVKAEVQ KVKDRAQAIV DSISKDKAIA EEKLEAAKPA LEEAEAALQT 

      3310       3320       3330       3340       3350       3360 
IRPSDIATVR TLGRPPHLIM RIMDCVLLLF QRKVSAVKID LEKSCTMPSW QESLKLMTAG 

      3370       3380       3390       3400       3410       3420 
NFLQNLQQFP KDTINEEVIE FLSPYFEMPD YNIETAKRVC GNVAGLCSWT KAMASFFSIN 

      3430       3440       3450       3460       3470       3480 
KEVLPLKANL VVQENRHLLA MQDLQKAQAE LDDKQAELDV VQAEYEQAMT EKQTLLEDAE 

      3490       3500       3510       3520       3530       3540 
RCRHKMQTAS TLISGLAGEK ERWTEQSQEF AAQTKRLVGD VLLATAFLSY SGPFNQEFRD 

      3550       3560       3570       3580       3590       3600 
LLLNDWRKEM KARKIPFGKN LNLSEMLIDA PTISEWNLQG LPNDDLSIQN GIIVTKASRY 

      3610       3620       3630       3640       3650       3660 
PLLIDPQTQG KIWIKNKESR NELQITSLNH KYFRNHLEDS LSLGRPLLIE DVGEELDPAL 

      3670       3680       3690       3700       3710       3720 
DNVLERNFIK TGSTFKVKVG DKEVDVLDGF RLYITTKLPN PAYTPEISAR TSIIDFTVTM 

      3730       3740       3750       3760       3770       3780 
KGLEDQLLGR VILTEKQELE KERTHLMEDV TANKRRMKEL EDNLLYRLTS TQGSLVEDES 

      3790       3800       3810       3820       3830       3840 
LIVVLSNTKR TAEEVTQKLE ISAETEVQIN SAREEYRPVA TRGSILYFLI TEMRLVNEMY 

      3850       3860       3870       3880       3890       3900 
QTSLRQFLGL FDLSLARSVK SPITSKRIAN IIEHMTYEVY KYAARGLYEE HKFLFTLLLT 

      3910       3920       3930       3940       3950       3960 
LKIDIQRNRV KHEEFLTLIK GGASLDLKAC PPKPSKWILD ITWLNLVELS KLRQFSDVLD 

      3970       3980       3990       4000       4010       4020 
QISRNEKMWK IWFDKENPEE EPLPNAYDKS LDCFRRLLLI RSWCPDRTIA QARKYIVDSM 

      4030       4040       4050       4060       4070       4080 
GEKYAEGVIL DLEKTWEESD PRTPLICLLS MGSDPTDSII ALGKRLKIET RYVSMGQGQE 

      4090       4100       4110       4120       4130       4140 
VHARKLLQQT MANGGWALLQ NCHLGLDFMD ELMDIIIETE LVHDAFRLWM TTEAHKQFPI 

      4150       4160       4170       4180       4190       4200 
TLLQMSIKFA NDPPQGLRAG LKRTYSGVSQ DLLDVSSGSQ WKPMLYAVAF LHSTVQERRK 

      4210       4220       4230       4240       4250       4260 
FGALGWNIPY EFNQADFNAT VQFIQNHLDD MDVKKGVSWT TIRYMIGEIQ YGGRVTDDYD 

      4270       4280       4290       4300       4310       4320 
KRLLNTFAKV WFSENMFGPD FSFYQGYNIP KCSTVDNYLQ YIQSLPAYDS PEVFGLHPNA 

      4330       4340       4350       4360       4370       4380 
DITYQSKLAK DVLDTILGIQ PKDTSGGGDE TREAVVARLA DDMLEKLPPD YVPFEVKERL 

      4390       4400       4410       4420       4430       4440 
QKMGPFQPMN IFLRQEIDRM QRVLSLVRST LTELKLAIDG TIIMSENLRD ALDCMFDARI 

      4450       4460       4470       4480       4490       4500 
PAWWKKASWI SSTLGFWFTE LIERNSQFTS WVFNGRPHCF WMTGFFNPQG FLTAMRQEIT 

      4510       4520       4530       4540       4550       4560 
RANKGWALDN MVLCNEVTKW MKDDISAPPT EGVYVYGLYL EGAGWDKRNM KLIESKPKVL 

      4570       4580       4590       4600       4610       4620 
FELMPVIRIY AENNTLRDPR FYSCPIYKKP VRTDLNYIAA VDLRTAQTPE HWVLRGVALL 


CDVK 

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References

« Hide 'large scale' references
[1]"Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry."
Olbrich H., Haeffner K., Kispert A., Voelkel A., Volz A., Sasmaz G., Reinhardt R., Hennig S., Lehrach H., Konietzko N., Zariwala M., Noone P.G., Knowles M., Mitchison H.M., Meeks M., Chung E.M.K., Hildebrandt F., Sudbrak R., Omran H.
Nat. Genet. 30:143-144(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT KTGS ARG-3519.
[2]"Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene."
Omran H., Haeffner K., Voelkel A., Kuehr J., Ketelsen U.-P., Ross U.-H., Konietzko N., Wienker T., Brandis M., Hildebrandt F.
Am. J. Respir. Cell Mol. Biol. 23:696-702(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1956-2469, INVOLVEMENT IN CILD3.
Tissue: Testis.
[3]"Multiple mouse chromosomal loci for dynein-based motility."
Vaughan K.T., Mikami A., Paschal B.M., Holzbaur E.L.F., Hughes S.M., Echeverri C.J., Moore K.J., Gilbert D.J., Copeland N.G., Jenkins N.A., Vallee R.B.
Genomics 36:29-38(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1956-2034.
Tissue: Lung.
[4]"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2966-4624, VARIANTS VAL-4134 AND VAL-4450.
Tissue: Brain.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4231-4602, VARIANT VAL-4450.
Tissue: Lung.
[6]"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects."
Hornef N., Olbrich H., Horvath J., Zariwala M.A., Fliegauf M., Loges N.T., Wildhaber J., Noone P.G., Kennedy M., Antonarakis S.E., Blouin J.-L., Bartoloni L., Nuesslein T., Ahrens P., Griese M., Kuhl H., Sudbrak R., Knowles M.R., Reinhardt R., Omran H.
Am. J. Respir. Crit. Care Med. 174:120-126(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CILD3 LEU-1716; ASN-2264; LYS-2347; PRO-2501; SER-2843; SER-3409; LEU-3843 AND VAL-4205.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY045575 mRNA. Translation: AAK92217.1.
AY049075 mRNA. Translation: AAL06603.1.
U61735 mRNA. Translation: AAC50699.1.
AB046823 mRNA. Translation: BAB13429.2.
AK026756 mRNA. Translation: BAB15543.1. Different initiation.
RefSeqNP_001360.1. NM_001369.2.
UniGeneHs.212360.

3D structure databases

ProteinModelPortalQ8TE73.
SMRQ8TE73. Positions 1465-3910.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

MINTMINT-4535499.
STRING9606.ENSP00000265104.

PTM databases

PhosphoSiteQ8TE73.

Polymorphism databases

DMDM116241343.

Proteomic databases

PaxDbQ8TE73.
PeptideAtlasQ8TE73.
PRIDEQ8TE73.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265104; ENSP00000265104; ENSG00000039139.
GeneID1767.
KEGGhsa:1767.
UCSCuc003jfd.2. human.

Organism-specific databases

CTD1767.
GeneCardsGC05M013745.
HGNCHGNC:2950. DNAH5.
HPAHPA037469.
HPA037470.
MIM244400. phenotype.
603335. gene.
608644. phenotype.
neXtProtNX_Q8TE73.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA27403.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5245.
HOGENOMHOG000257779.
HOVERGENHBG005543.
InParanoidQ8TE73.
OMADSMGEKY.
OrthoDBEOG73BVBP.
PhylomeDBQ8TE73.
TreeFamTF316836.

Gene expression databases

ArrayExpressQ8TE73.
BgeeQ8TE73.
CleanExHS_DNAH5.
GenevestigatorQ8TE73.

Family and domain databases

Gene3D3.40.50.300. 5 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. 3 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 5 hits.
ProtoNetSearch...

Other

GeneWikiDNAH5.
GenomeRNAi1767.
NextBio7195.
PROQ8TE73.
SOURCESearch...

Entry information

Entry nameDYH5_HUMAN
AccessionPrimary (citable) accession number: Q8TE73
Secondary accession number(s): Q92860 expand/collapse secondary AC list , Q96L74, Q9H5S7, Q9HCG9
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 112 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 5

Human chromosome 5: entries, gene names and cross-references to MIM