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Q8TE73

- DYH5_HUMAN

UniProt

Q8TE73 - DYH5_HUMAN

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
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    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 or flagellum-dependent cell motility Source: Ensembl
    2. metabolic process Source: GOC
    3. microtubule-based movement Source: InterPro

    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

    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

    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.
    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.
    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.

    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:
    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

    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 1, 2014
    This is version 116 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