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Q8TE73

- DYH5_HUMAN

UniProt

Q8TE73 - DYH5_HUMAN

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Protein

Dynein heavy chain 5, axonemal

Gene
DNAH5, DNAHC5, HL1, KIAA1603
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 – 19878ATP Reviewed prediction
Nucleotide bindingi2262 – 22698ATP Reviewed prediction

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 or flagellum-dependent cell motility Source: Ensembl
  2. metabolic process Source: GOC
  3. microtubule-based movement Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein heavy chain 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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).
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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

ArrayExpressiQ8TE73.
BgeeiQ8TE73.
CleanExiHS_DNAH5.
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.

Family & Domainsi

Region

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

Coiled coil

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

Domaini

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

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG5245.
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

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MFRIGRRQLW KHSVTRVLTQ RLKGEKEAKR ALLDARHNYL FAIVASCLDL     50
NKTEVEDAIL EGNQIERIDQ LFAVGGLRHL MFYYQDVEEA ETGQLGSLGG 100
VNLVSGKIKK PKVFVTEGND VALTGVCVFF IRTDPSKAIT PDNIHQEVSF 150
NMLDAADGGL LNSVRRLLSD IFIPALRATS HGWGELEGLQ DAANIRQEFL 200
SSLEGFVNVL SGAQESLKEK VNLRKCDILE LKTLKEPTDY LTLANNPETL 250
GKIEDCMKVW IKQTEQVLAE NNQLLKEADD VGPRAELEHW KKRLSKFNYL 300
LEQLKSPDVK AVLAVLAAAK SKLLKTWREM DIRITDATNE AKDNVKYLYT 350
LEKCCDPLYS SDPLSMMDAI PTLINAIKMI YSISHYYNTS EKITSLFVKV 400
TNQIISACKA YITNNGTASI WNQPQDVVEE KILSAIKLKQ EYQLCFHKTK 450
QKLKQNPNAK QFDFSEMYIF GKFETFHRRL AKIIDIFTTL KTYSVLQDST 500
IEGLEDMATK YQGIVATIKK KEYNFLDQRK MDFDQDYEEF CKQTNDLHNE 550
LRKFMDVTFA KIQNTNQALR MLKKFERLNI PNLGIDDKYQ LILENYGADI 600
DMISKLYTKQ KYDPPLARNQ PPIAGKILWA RQLFHRIQQP MQLFQQHPAV 650
LSTAEAKPII RSYNRMAKVL LEFEVLFHRA WLRQIEEIHV GLEASLLVKA 700
PGTGELFVNF DPQILILFRE TECMAQMGLE VSPLATSLFQ KRDRYKRNFS 750
NMKMMLAEYQ RVKSKIPAAI EQLIVPHLAK VDEALQPGLA ALTWTSLNIE 800
AYLENTFAKI KDLELLLDRV NDLIEFRIDA ILEEMSSTPL CQLPQEEPLT 850
CEEFLQMTKD LCVNGAQILH FKSSLVEEAV NELVNMLLDV EVLSEEESEK 900
ISNENSVNYK NESSAKREEG NFDTLTSSIN ARANALLLTT VTRKKKETEM 950
LGEEARELLS HFNHQNMDAL LKVTRNTLEA IRKRIHSSHT INFRDSNSAS 1000
NMKQNSLPIF RASVTLAIPN IVMAPALEDV QQTLNKAVEC IISVPKGVRQ 1050
WSSELLSKKK IQERKMAALQ SNEDSDSDVE MGENELQDTL EIASVNLPIP 1100
VQTKNYYKNV SENKEIVKLV SVLSTIINST KKEVITSMDC FKRYNHIWQK 1150
GKEEAIKTFI TQSPLLSEFE SQILYFQNLE QEINAEPEYV CVGSIALYTA 1200
DLKFALTAET KAWMVVIGRH CNKKYRSEME NIFMLIEEFN KKLNRPIKDL 1250
DDIRIAMAAL KEIREEQISI DFQVGPIEES YALLNRYGLL IAREEIDKVD 1300
TLHYAWEKLL ARAGEVQNKL VSLQPSFKKE LISAVEVFLQ DCHQFYLDYD 1350
LNGPMASGLK PQEASDRLIM FQNQFDNIYR KYITYTGGEE LFGLPATQYP 1400
QLLEIKKQLN LLQKIYTLYN SVIETVNSYY DILWSEVNIE KINNELLEFQ 1450
NRCRKLPRAL KDWQAFLDLK KIIDDFSECC PLLEYMASKA MMERHWERIT 1500
TLTGHSLDVG NESFKLRNIM EAPLLKYKEE IEDICISAVK ERDIEQKLKQ 1550
VINEWDNKTF TFGSFKTRGE LLLRGDSTSE IIANMEDSLM LLGSLLSNRY 1600
NMPFKAQIQK WVQYLSNSTD IIESWMTVQN LWIYLEAVFV GGDIAKQLPK 1650
EAKRFSNIDK SWVKIMTRAH EVPSVVQCCV GDETLGQLLP HLLDQLEICQ 1700
KSLTGYLEKK RLCFPRFFFV SDPALLEILG QASDSHTIQA HLLNVFDNIK 1750
SVKFHEKIYD RILSISSQEG ETIELDKPVM AEGNVEVWLN SLLEESQSSL 1800
HLVIRQAAAN IQETGFQLTE FLSSFPAQVG LLGIQMIWTR DSEEALRNAK 1850
FDKKIMQKTN QAFLELLNTL IDVTTRDLSS TERVKYETLI TIHVHQRDIF 1900
DDLCHMHIKS PMDFEWLKQC RFYFNEDSDK MMIHITDVAF IYQNEFLGCT 1950
DRLVITPLTD RCYITLAQAL GMSMGGAPAG PAGTGKTETT KDMGRCLGKY 2000
VVVFNCSDQM DFRGLGRIFK GLAQSGSWGC FDEFNRIDLP VLSVAAQQIS 2050
IILTCKKEHK KSFIFTDGDN VTMNPEFGLF LTMNPGYAGR QELPENLKIN 2100
FRSVAMMVPD RQIIIRVKLA SCGFIDNVVL ARKFFTLYKL CEEQLSKQVH 2150
YDFGLRNILS VLRTLGAAKR ANPMDTESTI VMRVLRDMNL SKLIDEDEPL 2200
FLSLIEDLFP NILLDKAGYP ELEAAISRQV EEAGLINHPP WKLKVIQLFE 2250
TQRVRHGMMT LGPSGAGKTT CIHTLMRAMT DCGKPHREMR MNPKAITAPQ 2300
MFGRLDVATN DWTDGIFSTL WRKTLRAKKG EHIWIILDGP VDAIWIENLN 2350
SVLDDNKTLT LANGDRIPMA PNCKIIFEPH NIDNASPATV SRNGMVFMSS 2400
SILDWSPILE GFLKKRSPQE AEILRQLYTE SFPDLYRFCI QNLEYKMEVL 2450
EAFVITQSIN MLQGLIPLKE QGGEVSQAHL GRLFVFALLW SAGAALELDG 2500
RRRLELWLRS RPTGTLELPP PAGPGDTAFD YYVAPDGTWT HWNTRTQEYL 2550
YPSDTTPEYG SILVPNVDNV RTDFLIQTIA KQGKAVLLIG EQGTAKTVII 2600
KGFMSKYDPE CHMIKSLNFS SATTPLMFQR TIESYVDKRM GTTYGPPAGK 2650
KMTVFIDDVN MPIINEWGDQ VTNEIVRQLM EQNGFYNLEK PGEFTSIVDI 2700
QFLAAMIHPG GGRNDIPQRL KRQFSIFNCT LPSEASVDKI FGVIGVGHYC 2750
TQRGFSEEVR DSVTKLVPLT RRLWQMTKIK MLPTPAKFHY VFNLRDLSRV 2800
WQGMLNTTSE VIKEPNDLLK LWKHECKRVI ADRFTVSSDV TWFDKALVSL 2850
VEEEFGEEKK LLVDCGIDTY FVDFLRDAPE AAGETSEEAD AETPKIYEPI 2900
ESFSHLKERL NMFLQLYNES IRGAGMDMVF FADAMVHLVK ISRVIRTPQG 2950
NALLVGVGGS GKQSLTRLAS FIAGYVSFQI TLTRSYNTSN LMEDLKVLYR 3000
TAGQQGKGIT FIFTDNEIKD ESFLEYMNNV LSSGEVSNLF ARDEIDEINS 3050
DLASVMKKEF PRCLPTNENL HDYFMSRVRQ NLHIVLCFSP VGEKFRNRAL 3100
KFPALISGCT IDWFSRWPKD ALVAVSEHFL TSYDIDCSLE IKKEVVQCMG 3150
SFQDGVAEKC VDYFQRFRRS THVTPKSYLS FIQGYKFIYG EKHVEVRTLA 3200
NRMNTGLEKL KEASESVAAL SKELEAKEKE LQVANDKADM VLKEVTMKAQ 3250
AAEKVKAEVQ KVKDRAQAIV DSISKDKAIA EEKLEAAKPA LEEAEAALQT 3300
IRPSDIATVR TLGRPPHLIM RIMDCVLLLF QRKVSAVKID LEKSCTMPSW 3350
QESLKLMTAG NFLQNLQQFP KDTINEEVIE FLSPYFEMPD YNIETAKRVC 3400
GNVAGLCSWT KAMASFFSIN KEVLPLKANL VVQENRHLLA MQDLQKAQAE 3450
LDDKQAELDV VQAEYEQAMT EKQTLLEDAE RCRHKMQTAS TLISGLAGEK 3500
ERWTEQSQEF AAQTKRLVGD VLLATAFLSY SGPFNQEFRD LLLNDWRKEM 3550
KARKIPFGKN LNLSEMLIDA PTISEWNLQG LPNDDLSIQN GIIVTKASRY 3600
PLLIDPQTQG KIWIKNKESR NELQITSLNH KYFRNHLEDS LSLGRPLLIE 3650
DVGEELDPAL DNVLERNFIK TGSTFKVKVG DKEVDVLDGF RLYITTKLPN 3700
PAYTPEISAR TSIIDFTVTM KGLEDQLLGR VILTEKQELE KERTHLMEDV 3750
TANKRRMKEL EDNLLYRLTS TQGSLVEDES LIVVLSNTKR TAEEVTQKLE 3800
ISAETEVQIN SAREEYRPVA TRGSILYFLI TEMRLVNEMY QTSLRQFLGL 3850
FDLSLARSVK SPITSKRIAN IIEHMTYEVY KYAARGLYEE HKFLFTLLLT 3900
LKIDIQRNRV KHEEFLTLIK GGASLDLKAC PPKPSKWILD ITWLNLVELS 3950
KLRQFSDVLD QISRNEKMWK IWFDKENPEE EPLPNAYDKS LDCFRRLLLI 4000
RSWCPDRTIA QARKYIVDSM GEKYAEGVIL DLEKTWEESD PRTPLICLLS 4050
MGSDPTDSII ALGKRLKIET RYVSMGQGQE VHARKLLQQT MANGGWALLQ 4100
NCHLGLDFMD ELMDIIIETE LVHDAFRLWM TTEAHKQFPI TLLQMSIKFA 4150
NDPPQGLRAG LKRTYSGVSQ DLLDVSSGSQ WKPMLYAVAF LHSTVQERRK 4200
FGALGWNIPY EFNQADFNAT VQFIQNHLDD MDVKKGVSWT TIRYMIGEIQ 4250
YGGRVTDDYD KRLLNTFAKV WFSENMFGPD FSFYQGYNIP KCSTVDNYLQ 4300
YIQSLPAYDS PEVFGLHPNA DITYQSKLAK DVLDTILGIQ PKDTSGGGDE 4350
TREAVVARLA DDMLEKLPPD YVPFEVKERL QKMGPFQPMN IFLRQEIDRM 4400
QRVLSLVRST LTELKLAIDG TIIMSENLRD ALDCMFDARI PAWWKKASWI 4450
SSTLGFWFTE LIERNSQFTS WVFNGRPHCF WMTGFFNPQG FLTAMRQEIT 4500
RANKGWALDN MVLCNEVTKW MKDDISAPPT EGVYVYGLYL EGAGWDKRNM 4550
KLIESKPKVL FELMPVIRIY AENNTLRDPR FYSCPIYKKP VRTDLNYIAA 4600
VDLRTAQTPE HWVLRGVALL CDVK 4624
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.

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2000 – 20001Y → D in AAC50699. 1 Publication
Sequence conflicti2027 – 20271S → A in AAL06603. 1 Publication
Sequence conflicti2027 – 20271S → A in AAC50699. 1 Publication
Sequence conflicti2207 – 22071D → N in AAL06603. 1 Publication
Sequence conflicti2227 – 22271S → N in AAL06603. 1 Publication
Sequence conflicti2232 – 22321E → K in AAL06603. 1 Publication
Sequence conflicti2248 – 22503LFE → QTK in AAL06603. 1 Publication
Sequence conflicti4429 – 44291R → Q in BAB15543. 1 Publication
Sequence conflicti4451 – 44511S → F in BAB15543. 1 Publication
Sequence conflicti4527 – 45271A → T in BAB15543. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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.
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

ArrayExpressi Q8TE73.
Bgeei Q8TE73.
CleanExi HS_DNAH5.
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: July 9, 2014
This is version 115 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

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