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Protein

Dynein heavy chain 5, axonemal

Gene

DNAH5

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

Functioni

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Required for structural and functional integrity of the cilia of ependymal cells lining the brain ventricles.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi1980 – 1987ATPSequence analysis8
Nucleotide bindingi2262 – 2269ATPSequence analysis8

GO - Molecular functioni

  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • microtubule motor activity Source: UniProtKB

GO - Biological processi

  • cilium assembly Source: SYSCILIA_CCNET
  • cilium movement Source: SYSCILIA_CCNET
  • determination of left/right symmetry Source: SYSCILIA_CCNET
  • flagellated sperm motility Source: SYSCILIA_CCNET
  • heart development Source: Ensembl
  • lateral ventricle development Source: Ensembl
  • outer dynein arm assembly Source: SYSCILIA_CCNET
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000039139-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein heavy chain 5, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 5
Ciliary dynein heavy chain 5
Gene namesi
Name:DNAH5
Synonyms:DNAHC5, HL1, KIAA1603
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:2950. DNAH5.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: SYSCILIA_CCNET
  • cytoplasm Source: UniProtKB-KW
  • microtubule Source: UniProtKB-KW
  • outer dynein arm Source: SYSCILIA_CCNET
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 3 (CILD3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:608644
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0724691454R → Q in CILD3. 1 PublicationCorresponds to variant rs542708170dbSNPEnsembl.1
Natural variantiVAR_0307051716R → L in CILD3. 2 PublicationsCorresponds to variant rs74799487dbSNPEnsembl.1
Natural variantiVAR_0307062264S → N in CILD3. 2 PublicationsCorresponds to variant rs78484669dbSNPEnsembl.1
Natural variantiVAR_0307072347E → K in CILD3. 1 Publication1
Natural variantiVAR_0307082501R → P in CILD3. 1 PublicationCorresponds to variant rs78853309dbSNPEnsembl.1
Natural variantiVAR_0307092843F → S in CILD3. 1 PublicationCorresponds to variant rs77377082dbSNPEnsembl.1
Natural variantiVAR_0724702881A → G in CILD3. 1 PublicationCorresponds to variant rs727502973dbSNPEnsembl.1
Natural variantiVAR_0307103409W → S in CILD3. 1 PublicationCorresponds to variant rs755407407dbSNPEnsembl.1
Natural variantiVAR_0196083519G → R in CILD3; disease phenotype consistent with Kartagener syndrome. 1 PublicationCorresponds to variant rs79967166dbSNPEnsembl.1
Natural variantiVAR_0724713605D → N in CILD3. 1 Publication1
Natural variantiVAR_0307113843S → L in CILD3. 1 PublicationCorresponds to variant rs78346432dbSNPEnsembl.1
Natural variantiVAR_0307124205G → V in CILD3. 1 PublicationCorresponds to variant rs79185772dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi1767.
MalaCardsiDNAH5.
MIMi608644. phenotype.
OpenTargetsiENSG00000039139.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27403.

Polymorphism and mutation databases

BioMutaiDNAH5.
DMDMi116241343.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001146301 – 4624Dynein heavy chain 5, axonemalAdd BLAST4624

Proteomic databases

EPDiQ8TE73.
MaxQBiQ8TE73.
PaxDbiQ8TE73.
PeptideAtlasiQ8TE73.
PRIDEiQ8TE73.

PTM databases

iPTMnetiQ8TE73.
PhosphoSitePlusiQ8TE73.

Expressioni

Gene expression databases

BgeeiENSG00000039139.
CleanExiHS_DNAH5.
GenevisibleiQ8TE73. HS.

Organism-specific databases

HPAiHPA037469.
HPA037470.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

MINTiMINT-4535499.
STRINGi9606.ENSP00000265104.

Structurei

3D structure databases

ProteinModelPortaliQ8TE73.
SMRiQ8TE73.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 1941StemBy similarityAdd BLAST1941
Regioni1942 – 2164AAA 1By similarityAdd BLAST223
Regioni2224 – 2443AAA 2By similarityAdd BLAST220
Regioni2550 – 2803AAA 3By similarityAdd BLAST254
Regioni2916 – 3170AAA 4By similarityAdd BLAST255
Regioni3185 – 3482StalkBy similarityAdd BLAST298
Regioni3567 – 3797AAA 5By similarityAdd BLAST231
Regioni4012 – 4226AAA 6By similarityAdd BLAST215

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili284 – 305Sequence analysisAdd BLAST22
Coiled coili740 – 825Sequence analysisAdd BLAST86
Coiled coili1435 – 1465Sequence analysisAdd BLAST31
Coiled coili3195 – 3302Sequence analysisAdd BLAST108
Coiled coili3426 – 3491Sequence analysisAdd BLAST66
Coiled coili3732 – 3817Sequence analysisAdd BLAST86
Coiled coili4392 – 4420Sequence analysisAdd BLAST29

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

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOGENOMiHOG000257779.
HOVERGENiHBG005543.
InParanoidiQ8TE73.
KOiK10408.
OMAiARVHDIY.
OrthoDBiEOG091G001E.
PhylomeDBiQ8TE73.
TreeFamiTF316836.

Family and domain databases

Gene3Di3.40.50.300. 5 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. 3 hits.
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. 3 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequencei

Sequence statusi: Complete.

Q8TE73-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFRIGRRQLW KHSVTRVLTQ RLKGEKEAKR ALLDARHNYL FAIVASCLDL
60 70 80 90 100
NKTEVEDAIL EGNQIERIDQ LFAVGGLRHL MFYYQDVEEA ETGQLGSLGG
110 120 130 140 150
VNLVSGKIKK PKVFVTEGND VALTGVCVFF IRTDPSKAIT PDNIHQEVSF
160 170 180 190 200
NMLDAADGGL LNSVRRLLSD IFIPALRATS HGWGELEGLQ DAANIRQEFL
210 220 230 240 250
SSLEGFVNVL SGAQESLKEK VNLRKCDILE LKTLKEPTDY LTLANNPETL
260 270 280 290 300
GKIEDCMKVW IKQTEQVLAE NNQLLKEADD VGPRAELEHW KKRLSKFNYL
310 320 330 340 350
LEQLKSPDVK AVLAVLAAAK SKLLKTWREM DIRITDATNE AKDNVKYLYT
360 370 380 390 400
LEKCCDPLYS SDPLSMMDAI PTLINAIKMI YSISHYYNTS EKITSLFVKV
410 420 430 440 450
TNQIISACKA YITNNGTASI WNQPQDVVEE KILSAIKLKQ EYQLCFHKTK
460 470 480 490 500
QKLKQNPNAK QFDFSEMYIF GKFETFHRRL AKIIDIFTTL KTYSVLQDST
510 520 530 540 550
IEGLEDMATK YQGIVATIKK KEYNFLDQRK MDFDQDYEEF CKQTNDLHNE
560 570 580 590 600
LRKFMDVTFA KIQNTNQALR MLKKFERLNI PNLGIDDKYQ LILENYGADI
610 620 630 640 650
DMISKLYTKQ KYDPPLARNQ PPIAGKILWA RQLFHRIQQP MQLFQQHPAV
660 670 680 690 700
LSTAEAKPII RSYNRMAKVL LEFEVLFHRA WLRQIEEIHV GLEASLLVKA
710 720 730 740 750
PGTGELFVNF DPQILILFRE TECMAQMGLE VSPLATSLFQ KRDRYKRNFS
760 770 780 790 800
NMKMMLAEYQ RVKSKIPAAI EQLIVPHLAK VDEALQPGLA ALTWTSLNIE
810 820 830 840 850
AYLENTFAKI KDLELLLDRV NDLIEFRIDA ILEEMSSTPL CQLPQEEPLT
860 870 880 890 900
CEEFLQMTKD LCVNGAQILH FKSSLVEEAV NELVNMLLDV EVLSEEESEK
910 920 930 940 950
ISNENSVNYK NESSAKREEG NFDTLTSSIN ARANALLLTT VTRKKKETEM
960 970 980 990 1000
LGEEARELLS HFNHQNMDAL LKVTRNTLEA IRKRIHSSHT INFRDSNSAS
1010 1020 1030 1040 1050
NMKQNSLPIF RASVTLAIPN IVMAPALEDV QQTLNKAVEC IISVPKGVRQ
1060 1070 1080 1090 1100
WSSELLSKKK IQERKMAALQ SNEDSDSDVE MGENELQDTL EIASVNLPIP
1110 1120 1130 1140 1150
VQTKNYYKNV SENKEIVKLV SVLSTIINST KKEVITSMDC FKRYNHIWQK
1160 1170 1180 1190 1200
GKEEAIKTFI TQSPLLSEFE SQILYFQNLE QEINAEPEYV CVGSIALYTA
1210 1220 1230 1240 1250
DLKFALTAET KAWMVVIGRH CNKKYRSEME NIFMLIEEFN KKLNRPIKDL
1260 1270 1280 1290 1300
DDIRIAMAAL KEIREEQISI DFQVGPIEES YALLNRYGLL IAREEIDKVD
1310 1320 1330 1340 1350
TLHYAWEKLL ARAGEVQNKL VSLQPSFKKE LISAVEVFLQ DCHQFYLDYD
1360 1370 1380 1390 1400
LNGPMASGLK PQEASDRLIM FQNQFDNIYR KYITYTGGEE LFGLPATQYP
1410 1420 1430 1440 1450
QLLEIKKQLN LLQKIYTLYN SVIETVNSYY DILWSEVNIE KINNELLEFQ
1460 1470 1480 1490 1500
NRCRKLPRAL KDWQAFLDLK KIIDDFSECC PLLEYMASKA MMERHWERIT
1510 1520 1530 1540 1550
TLTGHSLDVG NESFKLRNIM EAPLLKYKEE IEDICISAVK ERDIEQKLKQ
1560 1570 1580 1590 1600
VINEWDNKTF TFGSFKTRGE LLLRGDSTSE IIANMEDSLM LLGSLLSNRY
1610 1620 1630 1640 1650
NMPFKAQIQK WVQYLSNSTD IIESWMTVQN LWIYLEAVFV GGDIAKQLPK
1660 1670 1680 1690 1700
EAKRFSNIDK SWVKIMTRAH EVPSVVQCCV GDETLGQLLP HLLDQLEICQ
1710 1720 1730 1740 1750
KSLTGYLEKK RLCFPRFFFV SDPALLEILG QASDSHTIQA HLLNVFDNIK
1760 1770 1780 1790 1800
SVKFHEKIYD RILSISSQEG ETIELDKPVM AEGNVEVWLN SLLEESQSSL
1810 1820 1830 1840 1850
HLVIRQAAAN IQETGFQLTE FLSSFPAQVG LLGIQMIWTR DSEEALRNAK
1860 1870 1880 1890 1900
FDKKIMQKTN QAFLELLNTL IDVTTRDLSS TERVKYETLI TIHVHQRDIF
1910 1920 1930 1940 1950
DDLCHMHIKS PMDFEWLKQC RFYFNEDSDK MMIHITDVAF IYQNEFLGCT
1960 1970 1980 1990 2000
DRLVITPLTD RCYITLAQAL GMSMGGAPAG PAGTGKTETT KDMGRCLGKY
2010 2020 2030 2040 2050
VVVFNCSDQM DFRGLGRIFK GLAQSGSWGC FDEFNRIDLP VLSVAAQQIS
2060 2070 2080 2090 2100
IILTCKKEHK KSFIFTDGDN VTMNPEFGLF LTMNPGYAGR QELPENLKIN
2110 2120 2130 2140 2150
FRSVAMMVPD RQIIIRVKLA SCGFIDNVVL ARKFFTLYKL CEEQLSKQVH
2160 2170 2180 2190 2200
YDFGLRNILS VLRTLGAAKR ANPMDTESTI VMRVLRDMNL SKLIDEDEPL
2210 2220 2230 2240 2250
FLSLIEDLFP NILLDKAGYP ELEAAISRQV EEAGLINHPP WKLKVIQLFE
2260 2270 2280 2290 2300
TQRVRHGMMT LGPSGAGKTT CIHTLMRAMT DCGKPHREMR MNPKAITAPQ
2310 2320 2330 2340 2350
MFGRLDVATN DWTDGIFSTL WRKTLRAKKG EHIWIILDGP VDAIWIENLN
2360 2370 2380 2390 2400
SVLDDNKTLT LANGDRIPMA PNCKIIFEPH NIDNASPATV SRNGMVFMSS
2410 2420 2430 2440 2450
SILDWSPILE GFLKKRSPQE AEILRQLYTE SFPDLYRFCI QNLEYKMEVL
2460 2470 2480 2490 2500
EAFVITQSIN MLQGLIPLKE QGGEVSQAHL GRLFVFALLW SAGAALELDG
2510 2520 2530 2540 2550
RRRLELWLRS RPTGTLELPP PAGPGDTAFD YYVAPDGTWT HWNTRTQEYL
2560 2570 2580 2590 2600
YPSDTTPEYG SILVPNVDNV RTDFLIQTIA KQGKAVLLIG EQGTAKTVII
2610 2620 2630 2640 2650
KGFMSKYDPE CHMIKSLNFS SATTPLMFQR TIESYVDKRM GTTYGPPAGK
2660 2670 2680 2690 2700
KMTVFIDDVN MPIINEWGDQ VTNEIVRQLM EQNGFYNLEK PGEFTSIVDI
2710 2720 2730 2740 2750
QFLAAMIHPG GGRNDIPQRL KRQFSIFNCT LPSEASVDKI FGVIGVGHYC
2760 2770 2780 2790 2800
TQRGFSEEVR DSVTKLVPLT RRLWQMTKIK MLPTPAKFHY VFNLRDLSRV
2810 2820 2830 2840 2850
WQGMLNTTSE VIKEPNDLLK LWKHECKRVI ADRFTVSSDV TWFDKALVSL
2860 2870 2880 2890 2900
VEEEFGEEKK LLVDCGIDTY FVDFLRDAPE AAGETSEEAD AETPKIYEPI
2910 2920 2930 2940 2950
ESFSHLKERL NMFLQLYNES IRGAGMDMVF FADAMVHLVK ISRVIRTPQG
2960 2970 2980 2990 3000
NALLVGVGGS GKQSLTRLAS FIAGYVSFQI TLTRSYNTSN LMEDLKVLYR
3010 3020 3030 3040 3050
TAGQQGKGIT FIFTDNEIKD ESFLEYMNNV LSSGEVSNLF ARDEIDEINS
3060 3070 3080 3090 3100
DLASVMKKEF PRCLPTNENL HDYFMSRVRQ NLHIVLCFSP VGEKFRNRAL
3110 3120 3130 3140 3150
KFPALISGCT IDWFSRWPKD ALVAVSEHFL TSYDIDCSLE IKKEVVQCMG
3160 3170 3180 3190 3200
SFQDGVAEKC VDYFQRFRRS THVTPKSYLS FIQGYKFIYG EKHVEVRTLA
3210 3220 3230 3240 3250
NRMNTGLEKL KEASESVAAL SKELEAKEKE LQVANDKADM VLKEVTMKAQ
3260 3270 3280 3290 3300
AAEKVKAEVQ KVKDRAQAIV DSISKDKAIA EEKLEAAKPA LEEAEAALQT
3310 3320 3330 3340 3350
IRPSDIATVR TLGRPPHLIM RIMDCVLLLF QRKVSAVKID LEKSCTMPSW
3360 3370 3380 3390 3400
QESLKLMTAG NFLQNLQQFP KDTINEEVIE FLSPYFEMPD YNIETAKRVC
3410 3420 3430 3440 3450
GNVAGLCSWT KAMASFFSIN KEVLPLKANL VVQENRHLLA MQDLQKAQAE
3460 3470 3480 3490 3500
LDDKQAELDV VQAEYEQAMT EKQTLLEDAE RCRHKMQTAS TLISGLAGEK
3510 3520 3530 3540 3550
ERWTEQSQEF AAQTKRLVGD VLLATAFLSY SGPFNQEFRD LLLNDWRKEM
3560 3570 3580 3590 3600
KARKIPFGKN LNLSEMLIDA PTISEWNLQG LPNDDLSIQN GIIVTKASRY
3610 3620 3630 3640 3650
PLLIDPQTQG KIWIKNKESR NELQITSLNH KYFRNHLEDS LSLGRPLLIE
3660 3670 3680 3690 3700
DVGEELDPAL DNVLERNFIK TGSTFKVKVG DKEVDVLDGF RLYITTKLPN
3710 3720 3730 3740 3750
PAYTPEISAR TSIIDFTVTM KGLEDQLLGR VILTEKQELE KERTHLMEDV
3760 3770 3780 3790 3800
TANKRRMKEL EDNLLYRLTS TQGSLVEDES LIVVLSNTKR TAEEVTQKLE
3810 3820 3830 3840 3850
ISAETEVQIN SAREEYRPVA TRGSILYFLI TEMRLVNEMY QTSLRQFLGL
3860 3870 3880 3890 3900
FDLSLARSVK SPITSKRIAN IIEHMTYEVY KYAARGLYEE HKFLFTLLLT
3910 3920 3930 3940 3950
LKIDIQRNRV KHEEFLTLIK GGASLDLKAC PPKPSKWILD ITWLNLVELS
3960 3970 3980 3990 4000
KLRQFSDVLD QISRNEKMWK IWFDKENPEE EPLPNAYDKS LDCFRRLLLI
4010 4020 4030 4040 4050
RSWCPDRTIA QARKYIVDSM GEKYAEGVIL DLEKTWEESD PRTPLICLLS
4060 4070 4080 4090 4100
MGSDPTDSII ALGKRLKIET RYVSMGQGQE VHARKLLQQT MANGGWALLQ
4110 4120 4130 4140 4150
NCHLGLDFMD ELMDIIIETE LVHDAFRLWM TTEAHKQFPI TLLQMSIKFA
4160 4170 4180 4190 4200
NDPPQGLRAG LKRTYSGVSQ DLLDVSSGSQ WKPMLYAVAF LHSTVQERRK
4210 4220 4230 4240 4250
FGALGWNIPY EFNQADFNAT VQFIQNHLDD MDVKKGVSWT TIRYMIGEIQ
4260 4270 4280 4290 4300
YGGRVTDDYD KRLLNTFAKV WFSENMFGPD FSFYQGYNIP KCSTVDNYLQ
4310 4320 4330 4340 4350
YIQSLPAYDS PEVFGLHPNA DITYQSKLAK DVLDTILGIQ PKDTSGGGDE
4360 4370 4380 4390 4400
TREAVVARLA DDMLEKLPPD YVPFEVKERL QKMGPFQPMN IFLRQEIDRM
4410 4420 4430 4440 4450
QRVLSLVRST LTELKLAIDG TIIMSENLRD ALDCMFDARI PAWWKKASWI
4460 4470 4480 4490 4500
SSTLGFWFTE LIERNSQFTS WVFNGRPHCF WMTGFFNPQG FLTAMRQEIT
4510 4520 4530 4540 4550
RANKGWALDN MVLCNEVTKW MKDDISAPPT EGVYVYGLYL EGAGWDKRNM
4560 4570 4580 4590 4600
KLIESKPKVL FELMPVIRIY AENNTLRDPR FYSCPIYKKP VRTDLNYIAA
4610 4620
VDLRTAQTPE HWVLRGVALL CDVK
Length:4,624
Mass (Da):529,021
Last modified:October 17, 2006 - v3
Checksum:iB9BC9F20A4C581BE
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti2000Y → D in AAC50699 (PubMed:8812413).Curated1
Sequence conflicti2027S → A in AAL06603 (PubMed:11062149).Curated1
Sequence conflicti2027S → A in AAC50699 (PubMed:8812413).Curated1
Sequence conflicti2207D → N in AAL06603 (PubMed:11062149).Curated1
Sequence conflicti2227S → N in AAL06603 (PubMed:11062149).Curated1
Sequence conflicti2232E → K in AAL06603 (PubMed:11062149).Curated1
Sequence conflicti2248 – 2250LFE → QTK in AAL06603 (PubMed:11062149).Curated3
Sequence conflicti4429R → Q in BAB15543 (PubMed:14702039).Curated1
Sequence conflicti4451S → F in BAB15543 (PubMed:14702039).Curated1
Sequence conflicti4527A → T in BAB15543 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01960312H → Q.Corresponds to variant rs339445dbSNPEnsembl.1
Natural variantiVAR_01960424G → E.Corresponds to variant rs1530496dbSNPEnsembl.1
Natural variantiVAR_019605558T → A.Corresponds to variant rs1530498dbSNPEnsembl.1
Natural variantiVAR_053840591L → R.Corresponds to variant rs35090077dbSNPEnsembl.1
Natural variantiVAR_053841591L → V.Corresponds to variant rs35090077dbSNPEnsembl.1
Natural variantiVAR_053842620Q → K.Corresponds to variant rs34076967dbSNPEnsembl.1
Natural variantiVAR_053843765K → N.Corresponds to variant rs4701997dbSNPEnsembl.1
Natural variantiVAR_027903766I → L.Corresponds to variant rs4701997dbSNPEnsembl.1
Natural variantiVAR_0279041006S → G.Corresponds to variant rs16902886dbSNPEnsembl.1
Natural variantiVAR_0279051081M → V.Corresponds to variant rs16902880dbSNPEnsembl.1
Natural variantiVAR_0724691454R → Q in CILD3. 1 PublicationCorresponds to variant rs542708170dbSNPEnsembl.1
Natural variantiVAR_0307051716R → L in CILD3. 2 PublicationsCorresponds to variant rs74799487dbSNPEnsembl.1
Natural variantiVAR_0307062264S → N in CILD3. 2 PublicationsCorresponds to variant rs78484669dbSNPEnsembl.1
Natural variantiVAR_0307072347E → K in CILD3. 1 Publication1
Natural variantiVAR_0538442425R → H.Corresponds to variant rs35900306dbSNPEnsembl.1
Natural variantiVAR_0196062463Q → R.Corresponds to variant rs10078391dbSNPEnsembl.1
Natural variantiVAR_0307082501R → P in CILD3. 1 PublicationCorresponds to variant rs78853309dbSNPEnsembl.1
Natural variantiVAR_0307092843F → S in CILD3. 1 PublicationCorresponds to variant rs77377082dbSNPEnsembl.1
Natural variantiVAR_0196072862L → F.Corresponds to variant rs10513155dbSNPEnsembl.1
Natural variantiVAR_0724702881A → G in CILD3. 1 PublicationCorresponds to variant rs727502973dbSNPEnsembl.1
Natural variantiVAR_0307103409W → S in CILD3. 1 PublicationCorresponds to variant rs755407407dbSNPEnsembl.1
Natural variantiVAR_0196083519G → R in CILD3; disease phenotype consistent with Kartagener syndrome. 1 PublicationCorresponds to variant rs79967166dbSNPEnsembl.1
Natural variantiVAR_0724713605D → N in CILD3. 1 Publication1
Natural variantiVAR_0279063791T → I.Corresponds to variant rs17263496dbSNPEnsembl.1
Natural variantiVAR_0307113843S → L in CILD3. 1 PublicationCorresponds to variant rs78346432dbSNPEnsembl.1
Natural variantiVAR_0196094134A → V.1 PublicationCorresponds to variant rs30168dbSNPEnsembl.1
Natural variantiVAR_0307124205G → V in CILD3. 1 PublicationCorresponds to variant rs79185772dbSNPEnsembl.1
Natural variantiVAR_0196104220T → A.Corresponds to variant rs2277046dbSNPEnsembl.1
Natural variantiVAR_0196114450I → V.2 PublicationsCorresponds to variant rs3734110dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3882.1.
RefSeqiNP_001360.1. NM_001369.2.
UniGeneiHs.212360.

Genome annotation databases

EnsembliENST00000265104; ENSP00000265104; ENSG00000039139.
GeneIDi1767.
KEGGihsa:1767.
UCSCiuc003jfd.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3882.1.
RefSeqiNP_001360.1. NM_001369.2.
UniGeneiHs.212360.

3D structure databases

ProteinModelPortaliQ8TE73.
SMRiQ8TE73.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

MINTiMINT-4535499.
STRINGi9606.ENSP00000265104.

PTM databases

iPTMnetiQ8TE73.
PhosphoSitePlusiQ8TE73.

Polymorphism and mutation databases

BioMutaiDNAH5.
DMDMi116241343.

Proteomic databases

EPDiQ8TE73.
MaxQBiQ8TE73.
PaxDbiQ8TE73.
PeptideAtlasiQ8TE73.
PRIDEiQ8TE73.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265104; ENSP00000265104; ENSG00000039139.
GeneIDi1767.
KEGGihsa:1767.
UCSCiuc003jfd.4. human.

Organism-specific databases

CTDi1767.
DisGeNETi1767.
GeneCardsiDNAH5.
GeneReviewsiDNAH5.
HGNCiHGNC:2950. DNAH5.
HPAiHPA037469.
HPA037470.
MalaCardsiDNAH5.
MIMi603335. gene.
608644. phenotype.
neXtProtiNX_Q8TE73.
OpenTargetsiENSG00000039139.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27403.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOGENOMiHOG000257779.
HOVERGENiHBG005543.
InParanoidiQ8TE73.
KOiK10408.
OMAiARVHDIY.
OrthoDBiEOG091G001E.
PhylomeDBiQ8TE73.
TreeFamiTF316836.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000039139-MONOMER.

Miscellaneous databases

GeneWikiiDNAH5.
GenomeRNAii1767.
PROiQ8TE73.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000039139.
CleanExiHS_DNAH5.
GenevisibleiQ8TE73. HS.

Family and domain databases

Gene3Di3.40.50.300. 5 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. 3 hits.
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. 3 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiDYH5_HUMAN
AccessioniPrimary (citable) accession number: Q8TE73
Secondary accession number(s): Q92860
, Q96L74, Q9H5S7, Q9HCG9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 138 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 5
    Human chromosome 5: 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

Similar proteinsi

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