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Q8TE73

- DYH5_HUMAN

UniProt

Q8TE73 - DYH5_HUMAN

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Protein

Dynein heavy chain 5, axonemal

Gene

DNAH5

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1980 – 19878ATPSequence Analysis
Nucleotide bindingi2262 – 22698ATPSequence Analysis

GO - Molecular functioni

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

GO - Biological processi

  1. cilium movement Source: Ensembl
  2. lateral ventricle development Source: Ensembl
  3. left/right axis specification Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:2950. DNAH5.

Subcellular locationi

GO - Cellular componenti

  1. axonemal dynein complex Source: Ensembl
  2. axoneme Source: MGI
  3. microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1716 – 17161R → L in CILD3. 1 Publication
VAR_030705
Natural varianti2264 – 22641S → N in CILD3. 1 Publication
VAR_030706
Natural varianti2347 – 23471E → K in CILD3. 1 Publication
VAR_030707
Natural varianti2501 – 25011R → P in CILD3. 1 Publication
VAR_030708
Natural varianti2843 – 28431F → S in CILD3. 1 Publication
VAR_030709
Natural varianti3409 – 34091W → S in CILD3. 1 Publication
VAR_030710
Natural varianti3843 – 38431S → L in CILD3. 1 Publication
VAR_030711
Natural varianti4205 – 42051G → V in CILD3. 1 Publication
VAR_030712
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).1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3519 – 35191G → R in KTGS. 1 Publication
VAR_019608

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

MIMi244400. phenotype.
608644. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27403.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 46244624Dynein heavy chain 5, axonemalPRO_0000114630Add
BLAST

Proteomic databases

MaxQBiQ8TE73.
PaxDbiQ8TE73.
PeptideAtlasiQ8TE73.
PRIDEiQ8TE73.

PTM databases

PhosphoSiteiQ8TE73.

Expressioni

Gene expression databases

BgeeiQ8TE73.
CleanExiHS_DNAH5.
ExpressionAtlasiQ8TE73. baseline and differential.
GenevestigatoriQ8TE73.

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. Positions 1465-3910.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 19411941StemBy similarityAdd
BLAST
Regioni1942 – 2164223AAA 1By similarityAdd
BLAST
Regioni2224 – 2443220AAA 2By similarityAdd
BLAST
Regioni2550 – 2803254AAA 3By similarityAdd
BLAST
Regioni2916 – 3170255AAA 4By similarityAdd
BLAST
Regioni3185 – 3482298StalkBy similarityAdd
BLAST
Regioni3567 – 3797231AAA 5By similarityAdd
BLAST
Regioni4012 – 4226215AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili284 – 30522Sequence AnalysisAdd
BLAST
Coiled coili740 – 82586Sequence AnalysisAdd
BLAST
Coiled coili1435 – 146531Sequence AnalysisAdd
BLAST
Coiled coili3195 – 3302108Sequence AnalysisAdd
BLAST
Coiled coili3426 – 349166Sequence AnalysisAdd
BLAST
Coiled coili3732 – 381786Sequence AnalysisAdd
BLAST
Coiled coili4392 – 442029Sequence AnalysisAdd
BLAST

Domaini

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

Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG5245.
GeneTreeiENSGT00760000118964.
HOGENOMiHOG000257779.
HOVERGENiHBG005543.
InParanoidiQ8TE73.
OMAiIPPKEQG.
OrthoDBiEOG73BVBP.
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. 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. 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 BAB15543.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2000 – 20001Y → D in AAC50699. (PubMed:8812413)Curated
Sequence conflicti2027 – 20271S → A in AAL06603. (PubMed:11062149)Curated
Sequence conflicti2027 – 20271S → A in AAC50699. (PubMed:8812413)Curated
Sequence conflicti2207 – 22071D → N in AAL06603. (PubMed:11062149)Curated
Sequence conflicti2227 – 22271S → N in AAL06603. (PubMed:11062149)Curated
Sequence conflicti2232 – 22321E → K in AAL06603. (PubMed:11062149)Curated
Sequence conflicti2248 – 22503LFE → QTK in AAL06603. (PubMed:11062149)Curated
Sequence conflicti4429 – 44291R → Q in BAB15543. (PubMed:14702039)Curated
Sequence conflicti4451 – 44511S → F in BAB15543. (PubMed:14702039)Curated
Sequence conflicti4527 – 45271A → T in BAB15543. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121H → Q.
Corresponds to variant rs339445 [ dbSNP | Ensembl ].
VAR_019603
Natural varianti24 – 241G → E.
Corresponds to variant rs1530496 [ dbSNP | Ensembl ].
VAR_019604
Natural varianti558 – 5581T → A.
Corresponds to variant rs1530498 [ dbSNP | Ensembl ].
VAR_019605
Natural varianti591 – 5911L → R.
Corresponds to variant rs35090077 [ dbSNP | Ensembl ].
VAR_053840
Natural varianti591 – 5911L → V.
Corresponds to variant rs35090077 [ dbSNP | Ensembl ].
VAR_053841
Natural varianti620 – 6201Q → K.
Corresponds to variant rs34076967 [ dbSNP | Ensembl ].
VAR_053842
Natural varianti765 – 7651K → N.
Corresponds to variant rs4701997 [ dbSNP | Ensembl ].
VAR_053843
Natural varianti766 – 7661I → L.
Corresponds to variant rs4701997 [ dbSNP | Ensembl ].
VAR_027903
Natural varianti1006 – 10061S → G.
Corresponds to variant rs16902886 [ dbSNP | Ensembl ].
VAR_027904
Natural varianti1081 – 10811M → V.
Corresponds to variant rs16902880 [ dbSNP | Ensembl ].
VAR_027905
Natural varianti1716 – 17161R → L in CILD3. 1 Publication
VAR_030705
Natural varianti2264 – 22641S → N in CILD3. 1 Publication
VAR_030706
Natural varianti2347 – 23471E → K in CILD3. 1 Publication
VAR_030707
Natural varianti2425 – 24251R → H.
Corresponds to variant rs35900306 [ dbSNP | Ensembl ].
VAR_053844
Natural varianti2463 – 24631Q → R.
Corresponds to variant rs10078391 [ dbSNP | Ensembl ].
VAR_019606
Natural varianti2501 – 25011R → P in CILD3. 1 Publication
VAR_030708
Natural varianti2843 – 28431F → S in CILD3. 1 Publication
VAR_030709
Natural varianti2862 – 28621L → F.
Corresponds to variant rs10513155 [ dbSNP | Ensembl ].
VAR_019607
Natural varianti3409 – 34091W → S in CILD3. 1 Publication
VAR_030710
Natural varianti3519 – 35191G → R in KTGS. 1 Publication
VAR_019608
Natural varianti3791 – 37911T → I.
Corresponds to variant rs17263496 [ dbSNP | Ensembl ].
VAR_027906
Natural varianti3843 – 38431S → L in CILD3. 1 Publication
VAR_030711
Natural varianti4134 – 41341A → V.1 Publication
Corresponds to variant rs30168 [ dbSNP | Ensembl ].
VAR_019609
Natural varianti4205 – 42051G → V in CILD3. 1 Publication
VAR_030712
Natural varianti4220 – 42201T → A.
Corresponds to variant rs2277046 [ dbSNP | Ensembl ].
VAR_019610
Natural varianti4450 – 44501I → V.2 Publications
Corresponds to variant rs3734110 [ dbSNP | Ensembl ].
VAR_019611

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.2. human.

Polymorphism databases

DMDMi116241343.

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.
CCDSi CCDS3882.1.
RefSeqi NP_001360.1. NM_001369.2.
UniGenei Hs.212360.

3D structure databases

ProteinModelPortali Q8TE73.
SMRi Q8TE73. Positions 1465-3910.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-4535499.
STRINGi 9606.ENSP00000265104.

PTM databases

PhosphoSitei Q8TE73.

Polymorphism databases

DMDMi 116241343.

Proteomic databases

MaxQBi Q8TE73.
PaxDbi Q8TE73.
PeptideAtlasi Q8TE73.
PRIDEi Q8TE73.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265104 ; ENSP00000265104 ; ENSG00000039139 .
GeneIDi 1767.
KEGGi hsa:1767.
UCSCi uc003jfd.2. human.

Organism-specific databases

CTDi 1767.
GeneCardsi GC05M013745.
GeneReviewsi DNAH5.
HGNCi HGNC:2950. DNAH5.
HPAi HPA037469.
HPA037470.
MIMi 244400. phenotype.
603335. gene.
608644. phenotype.
neXtProti NX_Q8TE73.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA27403.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5245.
GeneTreei ENSGT00760000118964.
HOGENOMi HOG000257779.
HOVERGENi HBG005543.
InParanoidi Q8TE73.
OMAi IPPKEQG.
OrthoDBi EOG73BVBP.
PhylomeDBi Q8TE73.
TreeFami TF316836.

Miscellaneous databases

GeneWikii DNAH5.
GenomeRNAii 1767.
NextBioi 7195.
PROi Q8TE73.
SOURCEi Search...

Gene expression databases

Bgeei Q8TE73.
CleanExi HS_DNAH5.
ExpressionAtlasi Q8TE73. baseline and differential.
Genevestigatori Q8TE73.

Family and domain databases

Gene3Di 3.40.50.300. 5 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. 3 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 5 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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.
    , 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. Cited for: VARIANTS CILD3 LEU-1716; ASN-2264; LYS-2347; PRO-2501; SER-2843; SER-3409; LEU-3843 AND VAL-4205.

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: October 29, 2014
This is version 117 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

External Data

Dasty 3