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Q8NCM8

- DYHC2_HUMAN

UniProt

Q8NCM8 - DYHC2_HUMAN

Protein

Cytoplasmic dynein 2 heavy chain 1

Gene

DYNC2H1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 92 (01 Oct 2014)
      Sequence version 4 (02 Nov 2010)
      Previous versions | rss
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    Functioni

    May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi145 – 1528ATPSequence Analysis
    Nucleotide bindingi1689 – 16968ATPSequence Analysis
    Nucleotide bindingi1979 – 19868ATPSequence Analysis
    Nucleotide bindingi2291 – 22988ATPSequence Analysis
    Nucleotide bindingi2655 – 26628ATPSequence Analysis

    GO - Molecular functioni

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

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
    2. asymmetric protein localization Source: Ensembl
    3. cilium assembly Source: Ensembl
    4. determination of left/right symmetry Source: Ensembl
    5. dorsal/ventral pattern formation Source: Ensembl
    6. embryonic limb morphogenesis Source: Ensembl
    7. forebrain development Source: Ensembl
    8. Golgi organization Source: UniProtKB
    9. microtubule-based movement Source: InterPro
    10. protein processing Source: Ensembl
    11. spinal cord motor neuron differentiation Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Motor protein

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_121399. MHC class II antigen presentation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytoplasmic dynein 2 heavy chain 1
    Alternative name(s):
    Cytoplasmic dynein 2 heavy chain
    Dynein cytoplasmic heavy chain 2
    Dynein heavy chain 11
    Short name:
    hDHC11
    Dynein heavy chain isotype 1B
    Gene namesi
    Name:DYNC2H1
    Synonyms:DHC1B, DHC2, DNCH2, DYH1B, KIAA1997
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:2962. DYNC2H1.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme By similarity. Cell membrane By similarity; Peripheral membrane protein By similarity. Cytoplasm By similarity
    Note: Localizes to the apical cytoplasm By similarity. According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum.By similarity1 Publication

    GO - Cellular componenti

    1. apical part of cell Source: Ensembl
    2. cytosol Source: Reactome
    3. dynein complex Source: UniProtKB-KW
    4. extracellular vesicular exosome Source: UniProt
    5. Golgi apparatus Source: UniProtKB
    6. microtubule Source: UniProtKB
    7. motile primary cilium Source: Ensembl
    8. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Involvement in diseasei

    Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091F → I in SRTD3. 1 Publication
    VAR_063242
    Natural varianti330 – 3301R → C in SRTD3. 2 Publications
    VAR_069591
    Natural varianti338 – 3381R → G in SRTD3. 1 Publication
    VAR_069592
    Natural varianti430 – 4301R → C in SRTD3. 1 Publication
    VAR_069593
    Natural varianti495 – 4951K → R in SRTD3. 1 Publication
    VAR_069594
    Natural varianti587 – 5871R → C in SRTD3. 1 Publication
    VAR_063243
    Natural varianti871 – 8711L → P in SRTD3. 1 Publication
    VAR_069595
    Natural varianti1228 – 12281L → I in SRTD3. 1 Publication
    VAR_069596
    Natural varianti1240 – 12401I → T in SRTD3. 2 Publications
    VAR_063244
    Natural varianti1379 – 13791M → V in SRTD3. 1 Publication
    VAR_069597
    Natural varianti1423 – 14231R → C in SRTD3. 1 Publication
    VAR_069598
    Natural varianti1442 – 14421G → D in SRTD3. 1 Publication
    VAR_069599
    Natural varianti1537 – 15371Q → R in SRTD3.
    VAR_063245
    Natural varianti1987 – 19871T → A in SRTD3. 1 Publication
    VAR_063246
    Natural varianti1991 – 19911M → K in SRTD3. 1 Publication
    VAR_069600
    Natural varianti1991 – 19911M → L in SRTD3. 1 Publication
    VAR_063247
    Natural varianti2205 – 22051R → H in SRTD3. 1 Publication
    VAR_063248
    Natural varianti2227 – 22271M → V in SRTD3. 1 Publication
    VAR_069601
    Natural varianti2304 – 23041A → T in SRTD3. 1 Publication
    VAR_069602
    Natural varianti2362 – 23621N → S in SRTD3. 1 Publication
    VAR_069603
    Natural varianti2461 – 24611G → V in SRTD3. 1 Publication
    VAR_063249
    Natural varianti2481 – 24811R → Q in SRTD3. 1 Publication
    VAR_069604
    Natural varianti2496 – 24961P → S in SRTD3. 1 Publication
    VAR_069605
    Natural varianti2532 – 25321R → W in SRTD3. 1 Publication
    VAR_069606
    Natural varianti2555 – 25551V → M in SRTD3. 1 Publication
    VAR_069607
    Natural varianti2573 – 25731Y → C in SRTD3. 1 Publication
    VAR_069608
    Natural varianti2640 – 26401I → T in SRTD3. 1 Publication
    VAR_069609
    Natural varianti2662 – 26621R → Q in SRTD3. 1 Publication
    VAR_069610
    Natural varianti2819 – 28191I → M in SRTD3. 1 Publication
    VAR_069611
    Natural varianti3015 – 30151D → G in SRTD3. 2 Publications
    VAR_063250
    Natural varianti3381 – 33811P → L in SRTD3. 1 Publication
    VAR_069612
    Natural varianti3762 – 37621L → V in SRTD3. 1 Publication
    VAR_063251
    Natural varianti3806 – 38061R → C in SRTD3. 1 Publication
    VAR_069613
    Natural varianti3847 – 38471W → G in SRTD3. 1 Publication
    VAR_069614
    Natural varianti4232 – 42321L → R in SRTD3. 1 Publication
    VAR_069616

    Keywords - Diseasei

    Ciliopathy, Disease mutation

    Organism-specific databases

    MIMi613091. phenotype.
    Orphaneti474. Jeune syndrome.
    93269. Short rib-polydactyly syndrome, Majewski type.
    93271. Short rib-polydactyly syndrome, Verma-Naumoff type.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 43074307Cytoplasmic dynein 2 heavy chain 1PRO_0000318743Add
    BLAST

    Proteomic databases

    MaxQBiQ8NCM8.
    PaxDbiQ8NCM8.
    PRIDEiQ8NCM8.

    PTM databases

    PhosphoSiteiQ8NCM8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8NCM8.
    BgeeiQ8NCM8.
    GenevestigatoriQ8NCM8.

    Organism-specific databases

    HPAiHPA039016.

    Interactioni

    Subunit structurei

    The cytoplasmic dynein complex 2 is probably composed by a heavy chain DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.By similarity

    Protein-protein interaction databases

    BioGridi122785. 5 interactions.
    IntActiQ8NCM8. 4 interactions.
    MINTiMINT-8188622.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NCM8.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 16501650StemBy similarityAdd
    BLAST
    Regioni1651 – 1875225AAA 1By similarityAdd
    BLAST
    Regioni1938 – 2161224AAA 2By similarityAdd
    BLAST
    Regioni2251 – 2505255AAA 3By similarityAdd
    BLAST
    Regioni2617 – 2863247AAA 4By similarityAdd
    BLAST
    Regioni2881 – 3169289StalkBy similarityAdd
    BLAST
    Regioni3244 – 3473230AAA 5By similarityAdd
    BLAST
    Regioni3690 – 3905216AAA 6By similarityAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili1074 – 110330Sequence AnalysisAdd
    BLAST
    Coiled coili2897 – 298286Sequence AnalysisAdd
    BLAST
    Coiled coili3109 – 320092Sequence AnalysisAdd
    BLAST
    Coiled coili3408 – 344235Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the dynein heavy chain family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiCOG5245.
    HOVERGENiHBG107832.
    KOiK10414.
    OMAiQTIYSAY.
    OrthoDBiEOG773XF5.
    PhylomeDBiQ8NCM8.
    TreeFamiTF315251.

    Family and domain databases

    Gene3Di3.40.50.300. 4 hits.
    InterProiIPR003593. AAA+_ATPase.
    IPR011704. ATPase_dyneun-rel_AAA.
    IPR026983. DHC_fam.
    IPR026815. DYNC2H1.
    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.
    PTHR10676:SF34. PTHR10676:SF34. 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 (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NCM8-1) [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

    MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML     50
    LRVQRSDAGI SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM 100
    LESPISSLYQ AVRQVFAPML LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR 150
    RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI EQAHRGNKQI SKERANYFKE 200
    LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH DHYPESRMLH 250
    LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH 300
    LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA 350
    SEEKIICLTR VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA 400
    GKLKNYISEI QDSPQQLLQA FLKYKELVKR PTISKELMLE RETLLARLVD 450
    SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS EVVNSIVWVR QLELKVDDTI 500
    KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR DIQSGLSDSR 550
    SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI 600
    QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII 650
    KNSKAGSGGK SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC 700
    EKVVVLMNID LLRQQQRWKD GLQELRTGLA TVEAQGFQAS DMHAWKQHWN 750
    HQLYKALEHQ YQMGLEALNE NLPEINIDLT YKQGRLQFRP PFEEIRAKYY 800
    REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF SKAEDLFRRL 850
    SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP 900
    SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT 950
    EAMEVLTIMP QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV 1000
    AGGGLETISN LKAKWDKFEL MMESHQLMIK DQIEVMKGNV KSRLQIYYQE 1050
    LEKFKARWDQ LKPGDDVIET GQHNTLDKSA KLIKEKKIEF DDLEVTRKKL 1100
    VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG FQEMANEDWI 1150
    TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV 1200
    RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL 1250
    NSRAQGEVTI REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN 1300
    QVGDNRCLLQ SLKDSPYYKG FEDKVSIWER KLAELDEYLQ NLNHIQRKWV 1350
    YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT DIKKDNRVTT LTTHAGIRNS 1400
    LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI LGQSTNPSVI 1450
    QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL 1500
    NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED 1550
    VENAIKDHSL HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI 1600
    LDIIHNIDVV KQLNQIQVHT TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ 1650
    YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK MGLGGNPYGP AGTGKTESVK 1700
    ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF DEFNRLEESV 1750
    LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG 1800
    RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN 1850
    LSRELLTPQQ HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ 1900
    ALRLNTMSKF TFTDCTRFDA LIKDVFPGIE LKEVEYDELS AALKQVFEEA 1950
    NYEIIPNQIK KALELYEQLC QRMGVVIVGP SGAGKSTLWR MLRAALCKTG 2000
    KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ VVREPQDVSS 2050
    WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS 2100
    CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE 2150
    KALQWVLKQN DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL 2200
    NMKSRLEFTK EVFHWARESP PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT 2250
    ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS SDTKQPFILV GPEGCGKGML 2300
    LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST NTGRVYRPKD 2350
    CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI 2400
    QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL 2450
    HKNLKNHSIW GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT 2500
    QWVLGLFRYD LEGGSSNHPL DYVLEIVAYE ARRLFRDKIV GAKELHLFDI 2550
    ILTSVFQGDW GSDILDNMSD SFYVTWGARH NSGARAAPGQ PLPPHGKPLG 2600
    KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI DRVLSFPGGS 2650
    LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL 2700
    AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP 2750
    LKDQASQDGF FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH 2800
    KKCQVLWMEG WSNSSMKKIP EMLFSETGGG EKYNDKKRKE EKKKNSVDPD 2850
    FLKSFLLIHE SCKAYGATPS RYMTFLHVYS AISSSKKKEL LKRQSHLQAG 2900
    VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT VSMQDASEQK 2950
    TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL 3000
    SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF 3050
    DARNISKEIR ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS 3100
    HVLERIHPLE TEQAGLESNL KKTEDRKRKL EELLNSVGQK VSELKEKFQS 3150
    RTSEAAKLEA EVSKAQETIK AAEVLINQLD REHKRWNAQV VEITEELATL 3200
    PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL RRFLCTESEQ 3250
    LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL 3300
    EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR 3350
    YVVQIGDKII DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR 3400
    GQLLALTIQH EKPDLEEQKT KLLQQEEDKK IQLAKLEESL LETLATSQGN 3450
    ILENKDLIES LNQTKASSAL IQESLKESYK LQISLDQERD AYLPLAESAS 3500
    KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT EQRIQSLISS 3550
    LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM 3600
    LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT 3650
    YYNNSMCEQE FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL 3700
    KEVSPLPLNL KRLYKETLEI EPILIIISPG ADPSQELQEL ANAERSGECY 3750
    HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK NLHLVVSWLP VLEKELNTLQ 3800
    PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL MRTYESWTPE 3850
    QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY 3900
    NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS 3950
    SVIDVFNQRN KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA 4000
    NIARSSQRMI SSQVISQLRI LGRSITAGSK FDREIWSNEL SPVLNLWKKL 4050
    NQNSNLIHQK VPPPNDRQGS PILSFIILEQ FNAIRLVQSV HQSLAALSKV 4100
    IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY LRGLVARALA 4150
    IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF 4200
    VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM 4250
    GWIPQDACGP YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA 4300
    ALFLKNQ 4307
    Length:4,307
    Mass (Da):492,622
    Last modified:November 2, 2010 - v4
    Checksum:i54B60DEE419B7E9D
    GO
    Isoform 2 (identifier: Q8NCM8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3273-3273: Q → QIIGLKSW

    Note: No experimental confirmation available.

    Show »
    Length:4,314
    Mass (Da):493,420
    Checksum:i5727DDAAA0693332
    GO
    Isoform 3 (identifier: Q8NCM8-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         736-4122: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:920
    Mass (Da):105,369
    Checksum:i6CBCEEF9DEF5869D
    GO

    Sequence cautioni

    The sequence BAB13905.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAC04578.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAD18598.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti174 – 1741D → G in BAE17138. 1 PublicationCurated
    Sequence conflicti178 – 1781F → L in BAE17138. 1 PublicationCurated
    Sequence conflicti594 – 5941F → L in BAE17138. 1 PublicationCurated
    Sequence conflicti1120 – 11201I → N in AAB09728. (PubMed:8666668)Curated
    Sequence conflicti1168 – 11681D → V in AAB09728. (PubMed:8666668)Curated
    Sequence conflicti1784 – 17841N → H in CAB06054. (PubMed:9373155)Curated
    Sequence conflicti1864 – 18641W → Y in CAB06054. (PubMed:9373155)Curated
    Sequence conflicti1866 – 18672LR → FS in CAB06054. (PubMed:9373155)Curated
    Sequence conflicti1930 – 19301E → K in BAE46899. 1 PublicationCurated
    Sequence conflicti3095 – 30951A → V in CAD98012. (PubMed:17974005)Curated
    Sequence conflicti3665 – 36651L → P in CAD98012. (PubMed:17974005)Curated
    Sequence conflicti4258 – 42581C → R in BAB13905. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091F → I in SRTD3. 1 Publication
    VAR_063242
    Natural varianti302 – 3021T → P.
    Corresponds to variant rs12803695 [ dbSNP | Ensembl ].
    VAR_038862
    Natural varianti304 – 3041Q → L.
    Corresponds to variant rs12146610 [ dbSNP | Ensembl ].
    VAR_038863
    Natural varianti330 – 3301R → C in SRTD3. 2 Publications
    VAR_069591
    Natural varianti338 – 3381R → G in SRTD3. 1 Publication
    VAR_069592
    Natural varianti341 – 3411H → Y.
    Corresponds to variant rs17301182 [ dbSNP | Ensembl ].
    VAR_038864
    Natural varianti430 – 4301R → C in SRTD3. 1 Publication
    VAR_069593
    Natural varianti456 – 4561R → Q.
    Corresponds to variant rs17099969 [ dbSNP | Ensembl ].
    VAR_038865
    Natural varianti495 – 4951K → R in SRTD3. 1 Publication
    VAR_069594
    Natural varianti587 – 5871R → C in SRTD3. 1 Publication
    VAR_063243
    Natural varianti789 – 7891R → K.
    Corresponds to variant rs7358374 [ dbSNP | Ensembl ].
    VAR_038866
    Natural varianti871 – 8711L → P in SRTD3. 1 Publication
    VAR_069595
    Natural varianti1221 – 12211R → K.
    Corresponds to variant rs12794914 [ dbSNP | Ensembl ].
    VAR_038867
    Natural varianti1228 – 12281L → I in SRTD3. 1 Publication
    VAR_069596
    Natural varianti1240 – 12401I → T in SRTD3. 2 Publications
    VAR_063244
    Natural varianti1288 – 12881T → A.
    Corresponds to variant rs17301750 [ dbSNP | Ensembl ].
    VAR_038868
    Natural varianti1379 – 13791M → V in SRTD3. 1 Publication
    VAR_069597
    Natural varianti1413 – 14131K → R.1 Publication
    Corresponds to variant rs688906 [ dbSNP | Ensembl ].
    VAR_038869
    Natural varianti1423 – 14231R → C in SRTD3. 1 Publication
    VAR_069598
    Natural varianti1442 – 14421G → D in SRTD3. 1 Publication
    VAR_069599
    Natural varianti1537 – 15371Q → R in SRTD3.
    VAR_063245
    Natural varianti1987 – 19871T → A in SRTD3. 1 Publication
    VAR_063246
    Natural varianti1991 – 19911M → K in SRTD3. 1 Publication
    VAR_069600
    Natural varianti1991 – 19911M → L in SRTD3. 1 Publication
    VAR_063247
    Natural varianti2205 – 22051R → H in SRTD3. 1 Publication
    VAR_063248
    Natural varianti2227 – 22271M → V in SRTD3. 1 Publication
    VAR_069601
    Natural varianti2304 – 23041A → T in SRTD3. 1 Publication
    VAR_069602
    Natural varianti2362 – 23621N → S in SRTD3. 1 Publication
    VAR_069603
    Natural varianti2461 – 24611G → V in SRTD3. 1 Publication
    VAR_063249
    Natural varianti2481 – 24811R → Q in SRTD3. 1 Publication
    VAR_069604
    Natural varianti2496 – 24961P → S in SRTD3. 1 Publication
    VAR_069605
    Natural varianti2532 – 25321R → W in SRTD3. 1 Publication
    VAR_069606
    Natural varianti2555 – 25551V → M in SRTD3. 1 Publication
    VAR_069607
    Natural varianti2573 – 25731Y → C in SRTD3. 1 Publication
    VAR_069608
    Natural varianti2640 – 26401I → T in SRTD3. 1 Publication
    VAR_069609
    Natural varianti2662 – 26621R → Q in SRTD3. 1 Publication
    VAR_069610
    Natural varianti2819 – 28191I → M in SRTD3. 1 Publication
    VAR_069611
    Natural varianti2871 – 28711R → Q.2 Publications
    Corresponds to variant rs589623 [ dbSNP | Ensembl ].
    VAR_038870
    Natural varianti3015 – 30151D → G in SRTD3. 2 Publications
    VAR_063250
    Natural varianti3381 – 33811P → L in SRTD3. 1 Publication
    VAR_069612
    Natural varianti3680 – 36801A → V.1 Publication
    Corresponds to variant rs10895391 [ dbSNP | Ensembl ].
    VAR_038871
    Natural varianti3762 – 37621L → V in SRTD3. 1 Publication
    VAR_063251
    Natural varianti3806 – 38061R → C in SRTD3. 1 Publication
    VAR_069613
    Natural varianti3847 – 38471W → G in SRTD3. 1 Publication
    VAR_069614
    Natural varianti3909 – 39091G → D Probable disease-associated mutation found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. 1 Publication
    VAR_069615
    Natural varianti3976 – 39761S → N.
    Corresponds to variant rs4754914 [ dbSNP | Ensembl ].
    VAR_038872
    Natural varianti4139 – 41391Q → P.
    Corresponds to variant rs1793493 [ dbSNP | Ensembl ].
    VAR_038873
    Natural varianti4232 – 42321L → R in SRTD3. 1 Publication
    VAR_069616

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei736 – 41223387Missing in isoform 3. 1 PublicationVSP_031282Add
    BLAST
    Alternative sequencei3273 – 32731Q → QIIGLKSW in isoform 2. 1 PublicationVSP_031283

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB231765 mRNA. Translation: BAE46899.1.
    AB231766 mRNA. Translation: BAE17138.1.
    AP000817 Genomic DNA. No translation available.
    AP001486 Genomic DNA. No translation available.
    AP002829 Genomic DNA. No translation available.
    AP002961 Genomic DNA. No translation available.
    AP003382 Genomic DNA. No translation available.
    AP003461 Genomic DNA. No translation available.
    AK021818 mRNA. Translation: BAB13905.1. Different initiation.
    AK095579 mRNA. Translation: BAC04578.1. Different initiation.
    AK125524 mRNA. Translation: BAC86194.1.
    AK131453 mRNA. Translation: BAD18598.1. Different initiation.
    U53531 mRNA. Translation: AAB09728.1.
    U20552 mRNA. Translation: AAB50020.1.
    Z83800 mRNA. Translation: CAB06054.1.
    BX538093 mRNA. Translation: CAD98012.1.
    AB082528 mRNA. Translation: BAC02706.2.
    CCDSiCCDS44717.1. [Q8NCM8-2]
    CCDS53701.1. [Q8NCM8-1]
    RefSeqiNP_001073932.1. NM_001080463.1. [Q8NCM8-2]
    NP_001368.2. NM_001377.2. [Q8NCM8-1]
    UniGeneiHs.503721.

    Genome annotation databases

    EnsembliENST00000334267; ENSP00000334021; ENSG00000187240. [Q8NCM8-3]
    ENST00000375735; ENSP00000364887; ENSG00000187240. [Q8NCM8-1]
    ENST00000398093; ENSP00000381167; ENSG00000187240. [Q8NCM8-2]
    GeneIDi79659.
    KEGGihsa:79659.
    UCSCiuc001phn.1. human. [Q8NCM8-2]
    uc001pho.2. human. [Q8NCM8-1]
    uc009yxe.1. human. [Q8NCM8-3]

    Polymorphism databases

    DMDMi311033479.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB231765 mRNA. Translation: BAE46899.1 .
    AB231766 mRNA. Translation: BAE17138.1 .
    AP000817 Genomic DNA. No translation available.
    AP001486 Genomic DNA. No translation available.
    AP002829 Genomic DNA. No translation available.
    AP002961 Genomic DNA. No translation available.
    AP003382 Genomic DNA. No translation available.
    AP003461 Genomic DNA. No translation available.
    AK021818 mRNA. Translation: BAB13905.1 . Different initiation.
    AK095579 mRNA. Translation: BAC04578.1 . Different initiation.
    AK125524 mRNA. Translation: BAC86194.1 .
    AK131453 mRNA. Translation: BAD18598.1 . Different initiation.
    U53531 mRNA. Translation: AAB09728.1 .
    U20552 mRNA. Translation: AAB50020.1 .
    Z83800 mRNA. Translation: CAB06054.1 .
    BX538093 mRNA. Translation: CAD98012.1 .
    AB082528 mRNA. Translation: BAC02706.2 .
    CCDSi CCDS44717.1. [Q8NCM8-2 ]
    CCDS53701.1. [Q8NCM8-1 ]
    RefSeqi NP_001073932.1. NM_001080463.1. [Q8NCM8-2 ]
    NP_001368.2. NM_001377.2. [Q8NCM8-1 ]
    UniGenei Hs.503721.

    3D structure databases

    ProteinModelPortali Q8NCM8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122785. 5 interactions.
    IntActi Q8NCM8. 4 interactions.
    MINTi MINT-8188622.

    PTM databases

    PhosphoSitei Q8NCM8.

    Polymorphism databases

    DMDMi 311033479.

    Proteomic databases

    MaxQBi Q8NCM8.
    PaxDbi Q8NCM8.
    PRIDEi Q8NCM8.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000334267 ; ENSP00000334021 ; ENSG00000187240 . [Q8NCM8-3 ]
    ENST00000375735 ; ENSP00000364887 ; ENSG00000187240 . [Q8NCM8-1 ]
    ENST00000398093 ; ENSP00000381167 ; ENSG00000187240 . [Q8NCM8-2 ]
    GeneIDi 79659.
    KEGGi hsa:79659.
    UCSCi uc001phn.1. human. [Q8NCM8-2 ]
    uc001pho.2. human. [Q8NCM8-1 ]
    uc009yxe.1. human. [Q8NCM8-3 ]

    Organism-specific databases

    CTDi 79659.
    GeneCardsi GC11P102980.
    HGNCi HGNC:2962. DYNC2H1.
    HPAi HPA039016.
    MIMi 603297. gene.
    613091. phenotype.
    neXtProti NX_Q8NCM8.
    Orphaneti 474. Jeune syndrome.
    93269. Short rib-polydactyly syndrome, Majewski type.
    93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5245.
    HOVERGENi HBG107832.
    KOi K10414.
    OMAi QTIYSAY.
    OrthoDBi EOG773XF5.
    PhylomeDBi Q8NCM8.
    TreeFami TF315251.

    Enzyme and pathway databases

    Reactomei REACT_121399. MHC class II antigen presentation.

    Miscellaneous databases

    GeneWikii DYNC2H1.
    GenomeRNAii 79659.
    NextBioi 68838.
    PROi Q8NCM8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NCM8.
    Bgeei Q8NCM8.
    Genevestigatori Q8NCM8.

    Family and domain databases

    Gene3Di 3.40.50.300. 4 hits.
    InterProi IPR003593. AAA+_ATPase.
    IPR011704. ATPase_dyneun-rel_AAA.
    IPR026983. DHC_fam.
    IPR026815. DYNC2H1.
    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.
    PTHR10676:SF34. PTHR10676:SF34. 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. "Identification of novel human genes predicted by combining multiple gene finders."
      Totoki Y., Yada T., Sakaki Y., Takeda T.
      Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1911-2004 (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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 1-1088 AND 2955-4307 (ISOFORM 1).
      Tissue: Brain, Embryo, Placenta and Testis.
    4. "Mammalian cells express three distinct dynein heavy chains that are localized to different cytoplasmic organelles."
      Vaisberg E.A., Grissom P.M., McIntosh J.R.
      J. Cell Biol. 133:831-842(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1091-1745 (ISOFORM 1), VARIANT ARG-1413, TOPOLOGY, SUBCELLULAR LOCATION.
    5. "Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins."
      Gibbons B.H., Asai D.J., Tang W.-J.Y., Hays T.S., Gibbons I.R.
      Mol. Biol. Cell 5:57-70(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1671-1831 (ISOFORM 1).
      Tissue: Liver.
    6. "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 1689-1867 (ISOFORM 1).
      Tissue: Testis.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2583-4307 (ISOFORM 2), VARIANT GLN-2871.
      Tissue: Retina.
    8. "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."
      Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H.
      DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2623-4307 (ISOFORM 1), VARIANTS GLN-2871 AND VAL-3680.
      Tissue: Brain.
    9. Ohara O., Nagase T., Yamakawa H., Kikuno R.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: SEQUENCE REVISION.
    10. Cited for: NOMENCLATURE.
    11. Cited for: INVOLVEMENT IN DIGENIC SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, VARIANT ASP-3909.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    13. Cited for: VARIANTS SRTD3 ILE-209; CYS-587 AND HIS-2205.
    14. Cited for: VARIANTS SRTD3 THR-1240; ALA-1987; LEU-1991; VAL-2461; GLY-3015 AND VAL-3762.
    15. Cited for: VARIANTS SRTD3 CYS-330; GLY-338; CYS-430; ARG-495; CYS-1423; SER-2496 AND GLN-2662.
    16. Cited for: VARIANTS SRTD3 CYS-330; PRO-871; ILE-1228; THR-1240; VAL-1379; ASP-1442; LYS-1991; VAL-2227; THR-2304; SER-2362; GLN-2481; TRP-2532; MET-2555; CYS-2573; THR-2640; MET-2819; GLY-3015; LEU-3381; CYS-3806; GLY-3847 AND ARG-4232.

    Entry informationi

    Entry nameiDYHC2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NCM8
    Secondary accession number(s): O00432
    , Q16693, Q3C1U8, Q4AC93, Q6ZMX7, Q6ZUM6, Q7Z363, Q8N977, Q92815, Q9HAE4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: November 2, 2010
    Last modified: October 1, 2014
    This is version 92 of the entry and version 4 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 11
      Human chromosome 11: 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