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Q96JB1

- DYH8_HUMAN

UniProt

Q96JB1 - DYH8_HUMAN

Protein

Dynein heavy chain 8, axonemal

Gene

DNAH8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      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. Involved in sperm motility; implicated in sperm flagellar assembly By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi1846 – 18538ATPSequence Analysis
    Nucleotide bindingi2128 – 21358ATPSequence 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: UniProtKB
    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 8, axonemal
    Alternative name(s):
    Axonemal beta dynein heavy chain 8
    Ciliary dynein heavy chain 8
    Gene namesi
    Name:DNAH8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:2952. DNAH8.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme By similarity

    GO - Cellular componenti

    1. axonemal dynein complex Source: UniProtKB
    2. microtubule Source: UniProtKB-KW
    3. motile cilium Source: Ensembl

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA27405.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 44904490Dynein heavy chain 8, axonemalPRO_0000274044Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei674 – 6741Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ96JB1.
    PaxDbiQ96JB1.
    PRIDEiQ96JB1.

    PTM databases

    PhosphoSiteiQ96JB1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96JB1.
    BgeeiQ96JB1.
    CleanExiHS_DNAH8.
    GenevestigatoriQ96JB1.

    Organism-specific databases

    HPAiHPA028447.
    HPA030108.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    STRINGi9606.ENSP00000352312.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96JB1.
    SMRiQ96JB1. Positions 1838-1903, 2124-2156, 2449-2611, 3144-3294, 3350-3766, 3919-4125.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1808 – 2030223AAA 1By similarityAdd
    BLAST
    Regioni2090 – 2309220AAA 2By similarityAdd
    BLAST
    Regioni2416 – 2669254AAA 3By similarityAdd
    BLAST
    Regioni2780 – 3034255AAA 4By similarityAdd
    BLAST
    Regioni3049 – 3346298StalkBy similarityAdd
    BLAST
    Regioni3432 – 3662231AAA 5By similarityAdd
    BLAST
    Regioni3877 – 4091215AAA 6By similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili3072 – 316493Sequence AnalysisAdd
    BLAST
    Coiled coili3290 – 335465Sequence AnalysisAdd
    BLAST
    Coiled coili3594 – 363037Sequence 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.
    HOVERGENiHBG005543.
    InParanoidiQ96JB1.
    PhylomeDBiQ96JB1.
    TreeFamiTF316836.

    Family and domain databases

    Gene3Di3.40.50.300. 6 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.

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96JB1-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MMKLYIDNAA PDKLKGLCIF FVRCRNDVAI NVKTIQEEAL FTVLDASKGL     50
    LNGIRDMLAN IFLPAVLATN NWGALNQSKQ GESEKHIFTE TINRYLSFLD 100
    GARISIEGTV KLKTIDNVNF SKLHTFEEVT AAASNSETVH QLEEVLMVWY 150
    KQIEQVLIES EQMRKEAGDS GPLTELEHWK RMSAKFNYII EQIKGPSCKA 200
    VINVLNVAHS KLLKNWRDLD ARITDTANES KDNVRYLYTL EKVCQPLYNH 250
    DLVSMAHGIQ NLINAIRMIH GVSRYYNTSE RMTSLFIKVT NQMVTACKAY 300
    ITDGGLNHVW DQETPVVLKK IQDCIFLFKE YQASFHKTRK LISESSGEKS 350
    FEVSEMYIFG KFEAFCKRLE KITEMITVVQ TYSTLSNSTI EGIDIMAIKF 400
    RNIYQGVKKK QYDILDPRRT EFDTDFLDFM TKINGLEVQI QAFMNSSFGK 450
    ILSSQQALQL LQRFQKLNIP CLGLEINHTI ERILQYYVAE LDATKKLYHS 500
    QKDDPPLARN MPPIAGKILW VRQLYRRISE PINYFFKNSD ILSSPDGKAV 550
    IRQYNKISYV LVEFEVVYHT AWIREISQLH YALQATLFVR HPETGKLLVN 600
    FDPKILEVVR ETKCMIKMKL DVPEQAKRLL KLESKLKADK LYLQGLLQYY 650
    DELCQEVPSV FVNLMTPKMK KVESVLRQGL TVLTWSSLTL ESFFQEVELV 700
    LDMFNQLLKK ISDLCEMHID TVLKEIAKTV LISLPESGAT KVEDMLTLNE 750
    TYTKEWADIL NHKSKHVEEA VRELISIFEQ IYEVKYTGKV GKQSEQRKHV 800
    VFGSETGEGE NNDYEANIVN EFDTHDKEDE FKKECKEVFA FFSHQLLDSL 850
    QKATRLSLDT MKRRIFVASL YGRKQSEDII SFIKSEVHLA IPNVVMIPSL 900
    DDIQQAINRM IQLTLEVSRG VAHWGQQQIR PIKSVIPSPT TTDVTHQNTG 950
    KLLKKEERSF EEAIPARKLK NFYPGVAEHK DISKLVLLLS SSVNSLRKAA 1000
    HEALQDFQKY KTLWTEDRDV KVKEFLANNP SLTEIRSEIL HYATFEQEID 1050
    ELKPIIVVGA LELHTEPMKL ALSIEAKAWK MLLCRYLNEE YKKKMSYMIA 1100
    FINEYLKKLS RPIRDLDDVR FAMEALSCIR DNEIQMDMTL GPIEEAYAIL 1150
    NRFEVEVTKE ESEAVDTLRY SFNKLQSKAV SVQEDLVQVQ PKFKSNLLES 1200
    VEVFREDVIN FAEAYELEGP MVPNIPPQEA SNRLQIFQAS FDDLWRKFVT 1250
    YSSGEQLFGL PVTDYEVLHK TRKELNLLQK LYGLYDTVMS SISGYYEILW 1300
    GDVDIEKINA ELLEFQNRCR KLPKGLKDWQ AFLDLKKRID DFSESCPLLE 1350
    MMTNKAMKQR HWDRISELTG TPFDVESDSF CLRNIMEAPL LKHKDDIEDI 1400
    CISAIKEKDI EAKLTQVIEN WTNQNLSFAA FKGKGELLLK GTESGEIITL 1450
    MEDSLMVLGS LLSNRYNAPF KKNIQNWVYK LSTSSDIIEE WLVVQNLWVY 1500
    LEAVFVGGDI AKQLPQEAKR FQNIDKSWIK IMQRAHENPN VINCCVGDET 1550
    MGQLLPHLHE QLEVCQKSLT GYLEKKRLLF PRFFFVSDPV LLEILGQASD 1600
    SHTIQPHLPA VSDNINEVTF HAKDYDRIMA VISREGEKIV LDNSVMAKGP 1650
    VEIWLLDLLK MQMSSLHNII RSAFYQISDS GFQLLPFLSH FPAQVGLLGI 1700
    QMLWTHDSEE ALRNAKDDRK IMQVTNQKFL DILNTLISQT THDLSKFDRV 1750
    KFETLITIHV HQRDIFDDLV KMHIKSPTDF EWLKQSRFYF KEDLDQTVVS 1800
    ITDVDFIYQN EFLGCTDRLV ITPLTDRCYI TLAQALGMNM GGAPAGPAGT 1850
    GKTETTKDMG RCLGKYVVVF NCSDQMDFRG LGRIFKGLAQ SGSWGCFDEF 1900
    NRIELPVLSV AAQQIYIVLT ARKERKKQFI FSDGDCVDLN PEFGIFLTMN 1950
    PGYAGRQELP ENLKIQFRTV AMMVPDRQII MRVKLASCGF LENVILAQKF 2000
    YVLYKLCEEQ LTKQVHYDFG LRNILSVLRT LGSQKRARPE DSELSIVMRG 2050
    LRDMNLSKLV DEDEPLFLSL INDLFPGLQL DSNTYAELQN AVAHQVQIEG 2100
    LINHPPWNLK LVQLYETSLV RHGLMTLGPS GSGKTTVITI LMKAQTECGR 2150
    PHREMRMNPK AITAPQMFGR LDTATNDWTD GIFSTLWRKT LKAKKGENIF 2200
    LILDGPVDAI WIENLNSVLD DNKTLTLANG DRIPMAPSCK LLFEVHNIEN 2250
    ASPATVSRMG MVYISSSALS WRPILQAWLK KRTAQEAAVF LTLYEKVFED 2300
    TYTYMKLNLN PKMQLLECNY IVQSLNLLEG LIPSKEEGGV SCVEHLHKLF 2350
    VFGLMWSLGA LLELESREKL EAFLRQHESK LDLPEIPKGS NQTMYEFYVT 2400
    DYGDWEHWNK KLQPYYYPTD SIPEYSSILV PNVDNIRTNF LIDTIAKQHK 2450
    AVLLTGEQGT AKTVMVKAYL KKYDPEVQLS KSLNFSSATE PMMFQRTIES 2500
    YVDKRIGSTY GPPGGRKMTV FIDDINMPVI NEWGDQITNE IVRQMMEMEG 2550
    MYSLDKPGDF TTIVDVQLIA AMIHPGGGRN DIPQRLKRQF TVFNCTLPSN 2600
    ASIDKIFGII GCGYFDPCRS FKPQICEMIV NLVSVGRVLW QWTKVKMLPT 2650
    PSKFHYIFNL RDLSRIWQGM LTIKAEECAS IPTLLSLFKH ECSRVIADRF 2700
    ITPEDEQWFN AHLTRAVEEN IGSDAASCIL PEPYFVDFLR EMPEPTGDEP 2750
    EDSVFEVPKI YELMPSFDFL AEKLQFYQRQ FNEIIRGTSL DLVFFKDAMT 2800
    HLIKISRIIR TSCGNALLVG VGGSGKQSLS RLASFIAGYQ IFQITLTRSY 2850
    NVTNLTDDLK ALYKVAGADG KGITFIFTDS EIKDEAFLEY LNNLLSSGEI 2900
    SNLFARDEMD EITQGLISVM KRELPRHPPT FDNLYEYFIS RSRKNLHVVL 2950
    CFSPVGEKFR ARSLKFPGLI SGCTMDWFSR WPREALIAVA SYFLSDYNIV 3000
    CSSEIKRQVV ETMGLFHDMV SESCESYFQR YRRRAHVTPK SYLSFINGYK 3050
    NIYAEKVKFI NEQAERMNIG LDKLMEASES VAKLSQDLAV KEKELAVASI 3100
    KADEVLAEVT VSAQASAKIK NEVQEVKDKA QKIVDEIDSE KVKAESKLEA 3150
    AKPALEEAEA ALNTIKPNDI ATVRKLAKPP HLIMRIMDCV LLLFQKKIDP 3200
    VTMDPEKSCC KPSWGESLKL MSATGFLWSL QQFPKDTINE ETVELLQPYF 3250
    NMDDYTFESA KKVCGNVAGL LSWTLAMAIF YGINREVLPL KANLAKQEGR 3300
    LAVANAELGK AQALLDEKQA ELDKVQAKFD AAMNEKMDLL NDADTCRKKM 3350
    QAASTLIDGL SGEKIRWTQQ SKEFKAQINR LVGDILLCTG FLSYLGPFNQ 3400
    IFRNYLLKDQ WEMELRARKI PFTENLNLIS MLVDPPTIGE WGLQGLPGDD 3450
    LSIQNGIIVT KATRYPLLID PQTQGKTWIK SKEKENDLQV TSLNHKYFRT 3500
    HLEDSLSLGR PLLIEDIHEE LDPALDNVLE KNFIKSGTTF KVKVGDKECD 3550
    IMDTFKLYIT TKLPNPAFTP EINAKTSVID FTVTMKGLEN QLLRRVILTE 3600
    KQELEAERVK LLEDVTFNKR KMKELEDNLL YKLSATKGSL VDDESLIGVL 3650
    RTTKQTAAEV SEKLHVAAET EIKINAAQEE FRPAATRGSI LYFLITEMSM 3700
    VNIMYQTSLA QFLKLFDQSM ARSEKSPLPQ KRITNIIEYL TYEVFTYSVR 3750
    GLYENHKFLF VLLMTLKIDL QRGTVKHREF QALIKGGAAL DLKACPPKPY 3800
    RWILDMTWLN LVELSKLPQF AEIMNQISRN EKGWKSWFDK DAPEEEIIPD 3850
    GYNDSLDTCH KLLLIRSWCP DRTVFQARKY IADSLEEKYT EPVILNLEKT 3900
    WEESDTRTPL ICFLSMGSDP TNQIDALAKK LKLECRTISM GQGQEVHARK 3950
    LIQMSMQQGG WVLLQNCHLG LEFMEELLET LITTEASDDS FRVWITTEPH 4000
    DRFPITLLQT SLKFTNEPPQ GVRAGLKRTF AGINQDLLDI SNLPMWKPML 4050
    YTVAFLHSTV QERRKFGPLG WNIPYEFNSA DFSASVQFIQ NHLDECDIKK 4100
    GVSWNTVRYM IGEVQYGGRV TDDFDKRLLN CFARVWFSEK MFEPSFCFYT 4150
    GYKIPLCKTL DQYFEYIQSL PSLDNPEVFG LHPNADITYQ SNTASAVLET 4200
    ITNIQPKESG GGVGETREAI VYRLSEDMLS KLPPDYIPHE VKSRLIKMGH 4250
    LNSMNIFLRQ EIDRMQRVIS ILRSSLSDLK LAIEGTIIMS ENLRDALDNM 4300
    YDARIPQLWK RVSWDSSTLG FWFTELLERN AQFSTWIFEG RPNVFWMTGF 4350
    FNPQGFLTAM RQEVTRAHKG WALDTVTIHN EVLRQTKEEI TSPPGEGVYI 4400
    YGLYMDGAAW DRRNGKLMES TPKVLFTQLP VLHIFAINST APKDPKLYVC 4450
    PIYKKPRRTD LTFITVVYLR TVLSPDHWIL RGVALLCDIK 4490
    Length:4,490
    Mass (Da):514,664
    Last modified:January 23, 2007 - v2
    Checksum:iE5809E32FF08199B
    GO
    Isoform 2 (identifier: Q96JB1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1978-2013: Missing.

    Show »
    Length:4,454
    Mass (Da):510,448
    Checksum:i99F3877237ACCF7A
    GO
    Isoform 3 (identifier: Q96JB1-3)

    Sequence is not available
    Length:
    Mass (Da):
    Isoform 4 (identifier: Q96JB1-4)

    Sequence is not available
    Length:
    Mass (Da):

    Sequence cautioni

    The sequence CAI19770.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI19821.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI19822.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20293.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20294.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI21587.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI21588.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI42435.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI42436.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1622 – 16221A → T in AAK60620. (PubMed:12297094)Curated
    Sequence conflicti1945 – 19473IFL → VFI in CAB06060. (PubMed:9373155)Curated
    Sequence conflicti3495 – 34951H → R in AAK60620. (PubMed:12297094)Curated
    Sequence conflicti4118 – 41181G → D in AAK60620. (PubMed:12297094)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711N → S.
    Corresponds to variant rs6935293 [ dbSNP | Ensembl ].
    VAR_030171
    Natural varianti473 – 4731G → R.
    Corresponds to variant rs1738254 [ dbSNP | Ensembl ].
    VAR_030172
    Natural varianti573 – 5731I → V.1 Publication
    Corresponds to variant rs3823430 [ dbSNP | Ensembl ].
    VAR_030173
    Natural varianti727 – 7271A → T.
    Corresponds to variant rs1678674 [ dbSNP | Ensembl ].
    VAR_030174
    Natural varianti807 – 8071G → E.1 Publication
    Corresponds to variant rs874808 [ dbSNP | Ensembl ].
    VAR_030175
    Natural varianti1202 – 12021E → K.1 Publication
    Corresponds to variant rs9357283 [ dbSNP | Ensembl ].
    VAR_030176
    Natural varianti2226 – 22261T → M in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036213
    Natural varianti2444 – 24441T → N.
    Corresponds to variant rs862432 [ dbSNP | Ensembl ].
    VAR_030177
    Natural varianti4106 – 41061T → M.
    Corresponds to variant rs1537232 [ dbSNP | Ensembl ].
    VAR_030178
    Natural varianti4271 – 42711I → V.1 Publication
    Corresponds to variant rs10484847 [ dbSNP | Ensembl ].
    VAR_030179

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1978 – 201336Missing in isoform 2. CuratedVSP_022614Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF356519 mRNA. Translation: AAK60620.1.
    AL035690
    , AL034345, AL035555, AL353700 Genomic DNA. Translation: CAI19769.1.
    AL035690
    , AL034345, AL035555, AL353700, AL391415 Genomic DNA. Translation: CAI19770.1. Sequence problems.
    AL035555
    , AL034345, AL035690, AL353700 Genomic DNA. Translation: CAI19819.1.
    AL035555
    , AL034345, AL353700, AL391415 Genomic DNA. Translation: CAI19821.1. Sequence problems.
    AL035555
    , AL034345, AL035690, AL353700, AL391415 Genomic DNA. Translation: CAI19822.1. Sequence problems.
    AL353700
    , AL034345, AL035555, AL035690 Genomic DNA. Translation: CAI20292.1.
    AL353700
    , AL034345, AL035555, AL391415 Genomic DNA. Translation: CAI20293.1. Sequence problems.
    AL353700
    , AL034345, AL035555, AL035690, AL391415 Genomic DNA. Translation: CAI20294.1. Sequence problems.
    AL391415
    , AL034345, AL035555, AL353700 Genomic DNA. Translation: CAI21587.1. Sequence problems.
    AL391415
    , AL034345, AL035555, AL035690, AL353700 Genomic DNA. Translation: CAI21588.1. Sequence problems.
    AL034345
    , AL035555, AL035690, AL353700 Genomic DNA. Translation: CAI42433.1.
    AL034345 Genomic DNA. Translation: CAI42434.1.
    AL034345
    , AL035555, AL353700, AL391415 Genomic DNA. Translation: CAI42435.1. Sequence problems.
    AL034345
    , AL035555, AL035690, AL353700, AL391415 Genomic DNA. Translation: CAI42436.1. Sequence problems.
    Z83806 mRNA. Translation: CAB06060.1.
    AJ132091 mRNA. Translation: CAA10564.1.
    RefSeqiNP_001193856.1. NM_001206927.1.
    UniGeneiHs.520106.
    Hs.686107.

    Genome annotation databases

    EnsembliENST00000359357; ENSP00000352312; ENSG00000124721. [Q96JB1-1]
    GeneIDi1769.
    KEGGihsa:1769.
    UCSCiuc003ooe.2. human. [Q96JB1-1]

    Polymorphism databases

    DMDMi124007137.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF356519 mRNA. Translation: AAK60620.1 .
    AL035690
    , AL034345 , AL035555 , AL353700 Genomic DNA. Translation: CAI19769.1 .
    AL035690
    , AL034345 , AL035555 , AL353700 , AL391415 Genomic DNA. Translation: CAI19770.1 . Sequence problems.
    AL035555
    , AL034345 , AL035690 , AL353700 Genomic DNA. Translation: CAI19819.1 .
    AL035555
    , AL034345 , AL353700 , AL391415 Genomic DNA. Translation: CAI19821.1 . Sequence problems.
    AL035555
    , AL034345 , AL035690 , AL353700 , AL391415 Genomic DNA. Translation: CAI19822.1 . Sequence problems.
    AL353700
    , AL034345 , AL035555 , AL035690 Genomic DNA. Translation: CAI20292.1 .
    AL353700
    , AL034345 , AL035555 , AL391415 Genomic DNA. Translation: CAI20293.1 . Sequence problems.
    AL353700
    , AL034345 , AL035555 , AL035690 , AL391415 Genomic DNA. Translation: CAI20294.1 . Sequence problems.
    AL391415
    , AL034345 , AL035555 , AL353700 Genomic DNA. Translation: CAI21587.1 . Sequence problems.
    AL391415
    , AL034345 , AL035555 , AL035690 , AL353700 Genomic DNA. Translation: CAI21588.1 . Sequence problems.
    AL034345
    , AL035555 , AL035690 , AL353700 Genomic DNA. Translation: CAI42433.1 .
    AL034345 Genomic DNA. Translation: CAI42434.1 .
    AL034345
    , AL035555 , AL353700 , AL391415 Genomic DNA. Translation: CAI42435.1 . Sequence problems.
    AL034345
    , AL035555 , AL035690 , AL353700 , AL391415 Genomic DNA. Translation: CAI42436.1 . Sequence problems.
    Z83806 mRNA. Translation: CAB06060.1 .
    AJ132091 mRNA. Translation: CAA10564.1 .
    RefSeqi NP_001193856.1. NM_001206927.1.
    UniGenei Hs.520106.
    Hs.686107.

    3D structure databases

    ProteinModelPortali Q96JB1.
    SMRi Q96JB1. Positions 1838-1903, 2124-2156, 2449-2611, 3144-3294, 3350-3766, 3919-4125.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000352312.

    PTM databases

    PhosphoSitei Q96JB1.

    Polymorphism databases

    DMDMi 124007137.

    Proteomic databases

    MaxQBi Q96JB1.
    PaxDbi Q96JB1.
    PRIDEi Q96JB1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000359357 ; ENSP00000352312 ; ENSG00000124721 . [Q96JB1-1 ]
    GeneIDi 1769.
    KEGGi hsa:1769.
    UCSCi uc003ooe.2. human. [Q96JB1-1 ]

    Organism-specific databases

    CTDi 1769.
    GeneCardsi GC06P038685.
    H-InvDB HIX0033271.
    HGNCi HGNC:2952. DNAH8.
    HPAi HPA028447.
    HPA030108.
    MIMi 603337. gene.
    neXtProti NX_Q96JB1.
    PharmGKBi PA27405.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5245.
    HOVERGENi HBG005543.
    InParanoidi Q96JB1.
    PhylomeDBi Q96JB1.
    TreeFami TF316836.

    Miscellaneous databases

    GenomeRNAii 1769.
    NextBioi 7201.
    PROi Q96JB1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96JB1.
    Bgeei Q96JB1.
    CleanExi HS_DNAH8.
    Genevestigatori Q96JB1.

    Family and domain databases

    Gene3Di 3.40.50.300. 6 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. "The T complex distorter 2 candidate gene, Dnahc8, encodes at least two testis-specific axonemal dynein heavy chains that differ extensively at their amino and carboxyl termini."
      Samant S.A., Ogunkua O., Hui L., Fossella J., Pilder S.H.
      Dev. Biol. 250:24-43(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS VAL-573; GLU-807; LYS-1202 AND VAL-4271.
      Tissue: Testis.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene."
      Neesen J., Koehler M.R., Kirschner R., Steinlein C., Kreutzberger J., Engel W., Schmid M.
      Gene 200:193-202(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1846-1952 (ISOFORM 1).
      Tissue: Testis.
    4. "Chromosomal localization of human dynein heavy chain genes."
      Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Ziegler A., Bouvagnet P.
      Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1856-1912 (ISOFORM 1).
      Tissue: Nasal polyp.
    5. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
      Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
      Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-674, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-2226.

    Entry informationi

    Entry nameiDYH8_HUMAN
    AccessioniPrimary (citable) accession number: Q96JB1
    Secondary accession number(s): O00438
    , Q5JYI2, Q5T2M3, Q5T2M4, Q5TG00, Q9UEM4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2007
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 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 6
      Human chromosome 6: 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