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Q8NCM8 (DYHC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DYNC2H1
Synonyms:DHC1B, DHC2, DNCH2, DYH1B, KIAA1997
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4307 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cytoplasmcytoskeletoncilium axoneme By similarity. Cell membrane; Peripheral membrane protein By similarity. Cytoplasm By similarity. Note: Localizes to the apical cytoplasm By similarity. According to Ref.4, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum. Ref.4

Involvement in disease

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.
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) (Ref.11). Ref.13 Ref.14 Ref.15 Ref.16

Sequence similarities

Belongs to the dynein heavy chain family.

Sequence caution

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.

Ontologies

Keywords
   Biological processCilium biogenesis/degradation
   Cellular componentCell membrane
Cell projection
Cilium
Cytoplasm
Cytoskeleton
Dynein
Membrane
Microtubule
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseCiliopathy
Disease mutation
   DomainCoiled coil
   LigandATP-binding
Nucleotide-binding
   Molecular functionDevelopmental protein
Motor protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processGolgi organization

Inferred from direct assay Ref.4. Source: UniProtKB

antigen processing and presentation of exogenous peptide antigen via MHC class II

Traceable author statement. Source: Reactome

asymmetric protein localization

Inferred from electronic annotation. Source: Ensembl

cilium assembly

Inferred from electronic annotation. Source: Ensembl

cilium or flagellum-dependent cell motility

Inferred from electronic annotation. Source: InterPro

determination of left/right symmetry

Inferred from electronic annotation. Source: Ensembl

dorsal/ventral pattern formation

Inferred from electronic annotation. Source: Ensembl

embryonic limb morphogenesis

Inferred from electronic annotation. Source: Ensembl

forebrain development

Inferred from electronic annotation. Source: Ensembl

microtubule-based movement

Inferred from electronic annotation. Source: InterPro

protein processing

Inferred from electronic annotation. Source: Ensembl

spinal cord motor neuron differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentGolgi apparatus

Inferred from direct assay Ref.4. Source: UniProtKB

apical part of cell

Inferred from electronic annotation. Source: Ensembl

cytosol

Traceable author statement. Source: Reactome

dynein complex

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

microtubule

Inferred from direct assay PubMed 21525035. Source: UniProtKB

motile primary cilium

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity

Inferred from electronic annotation. Source: InterPro

microtubule motor activity

Inferred from electronic annotation. Source: InterPro

motor activity

Non-traceable author statement Ref.4. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8NCM8-1)

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.
Isoform 2 (identifier: Q8NCM8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     3273-3273: Q → QIIGLKSW
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8NCM8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     736-4122: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 43074307Cytoplasmic dynein 2 heavy chain 1
PRO_0000318743

Regions

Nucleotide binding145 – 1528ATP Potential
Nucleotide binding1689 – 16968ATP Potential
Nucleotide binding1979 – 19868ATP Potential
Nucleotide binding2291 – 22988ATP Potential
Nucleotide binding2655 – 26628ATP Potential
Region1 – 16501650Stem By similarity
Region1651 – 1875225AAA 1 By similarity
Region1938 – 2161224AAA 2 By similarity
Region2251 – 2505255AAA 3 By similarity
Region2617 – 2863247AAA 4 By similarity
Region2881 – 3169289Stalk By similarity
Region3244 – 3473230AAA 5 By similarity
Region3690 – 3905216AAA 6 By similarity
Coiled coil1074 – 110330 Potential
Coiled coil2897 – 298286 Potential
Coiled coil3109 – 320092 Potential
Coiled coil3408 – 344235 Potential

Natural variations

Alternative sequence736 – 41223387Missing in isoform 3.
VSP_031282
Alternative sequence32731Q → QIIGLKSW in isoform 2.
VSP_031283
Natural variant2091F → I in SRTD3. Ref.13
VAR_063242
Natural variant3021T → P.
Corresponds to variant rs12803695 [ dbSNP | Ensembl ].
VAR_038862
Natural variant3041Q → L.
Corresponds to variant rs12146610 [ dbSNP | Ensembl ].
VAR_038863
Natural variant3301R → C in SRTD3. Ref.15 Ref.16
VAR_069591
Natural variant3381R → G in SRTD3. Ref.15
VAR_069592
Natural variant3411H → Y.
Corresponds to variant rs17301182 [ dbSNP | Ensembl ].
VAR_038864
Natural variant4301R → C in SRTD3. Ref.15
VAR_069593
Natural variant4561R → Q.
Corresponds to variant rs17099969 [ dbSNP | Ensembl ].
VAR_038865
Natural variant4951K → R in SRTD3. Ref.15
VAR_069594
Natural variant5871R → C in SRTD3. Ref.13
VAR_063243
Natural variant7891R → K.
Corresponds to variant rs7358374 [ dbSNP | Ensembl ].
VAR_038866
Natural variant8711L → P in SRTD3. Ref.16
VAR_069595
Natural variant12211R → K.
Corresponds to variant rs12794914 [ dbSNP | Ensembl ].
VAR_038867
Natural variant12281L → I in SRTD3. Ref.16
VAR_069596
Natural variant12401I → T in SRTD3. Ref.14 Ref.16
VAR_063244
Natural variant12881T → A.
Corresponds to variant rs17301750 [ dbSNP | Ensembl ].
VAR_038868
Natural variant13791M → V in SRTD3. Ref.16
VAR_069597
Natural variant14131K → R. Ref.4
Corresponds to variant rs688906 [ dbSNP | Ensembl ].
VAR_038869
Natural variant14231R → C in SRTD3. Ref.15
VAR_069598
Natural variant14421G → D in SRTD3. Ref.16
VAR_069599
Natural variant15371Q → R in SRTD3.
VAR_063245
Natural variant19871T → A in SRTD3. Ref.14
VAR_063246
Natural variant19911M → K in SRTD3. Ref.16
VAR_069600
Natural variant19911M → L in SRTD3. Ref.14
VAR_063247
Natural variant22051R → H in SRTD3. Ref.13
VAR_063248
Natural variant22271M → V in SRTD3. Ref.16
VAR_069601
Natural variant23041A → T in SRTD3. Ref.16
VAR_069602
Natural variant23621N → S in SRTD3. Ref.16
VAR_069603
Natural variant24611G → V in SRTD3. Ref.14
VAR_063249
Natural variant24811R → Q in SRTD3. Ref.16
VAR_069604
Natural variant24961P → S in SRTD3. Ref.15
VAR_069605
Natural variant25321R → W in SRTD3. Ref.16
VAR_069606
Natural variant25551V → M in SRTD3. Ref.16
VAR_069607
Natural variant25731Y → C in SRTD3. Ref.16
VAR_069608
Natural variant26401I → T in SRTD3. Ref.16
VAR_069609
Natural variant26621R → Q in SRTD3. Ref.15
VAR_069610
Natural variant28191I → M in SRTD3. Ref.16
VAR_069611
Natural variant28711R → Q. Ref.7 Ref.8
Corresponds to variant rs589623 [ dbSNP | Ensembl ].
VAR_038870
Natural variant30151D → G in SRTD3. Ref.14 Ref.16
VAR_063250
Natural variant33811P → L in SRTD3. Ref.16
VAR_069612
Natural variant36801A → V. Ref.8
Corresponds to variant rs10895391 [ dbSNP | Ensembl ].
VAR_038871
Natural variant37621L → V in SRTD3. Ref.14
VAR_063251
Natural variant38061R → C in SRTD3. Ref.16
VAR_069613
Natural variant38471W → G in SRTD3. Ref.16
VAR_069614
Natural variant39091G → D Probable disease-associated mutation found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. Ref.11
VAR_069615
Natural variant39761S → N.
Corresponds to variant rs4754914 [ dbSNP | Ensembl ].
VAR_038872
Natural variant41391Q → P.
Corresponds to variant rs1793493 [ dbSNP | Ensembl ].
VAR_038873
Natural variant42321L → R in SRTD3. Ref.16
VAR_069616

Experimental info

Sequence conflict1741D → G in BAE17138. Ref.1
Sequence conflict1781F → L in BAE17138. Ref.1
Sequence conflict5941F → L in BAE17138. Ref.1
Sequence conflict11201I → N in AAB09728. Ref.4
Sequence conflict11681D → V in AAB09728. Ref.4
Sequence conflict17841N → H in CAB06054. Ref.6
Sequence conflict18641W → Y in CAB06054. Ref.6
Sequence conflict1866 – 18672LR → FS in CAB06054. Ref.6
Sequence conflict19301E → K in BAE46899. Ref.1
Sequence conflict30951A → V in CAD98012. Ref.7
Sequence conflict36651L → P in CAD98012. Ref.7
Sequence conflict42581C → R in BAB13905. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 4.
Checksum: 54B60DEE419B7E9D

FASTA4,307492,622
        10         20         30         40         50         60 
MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI 

        70         80         90        100        110        120 
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML 

       130        140        150        160        170        180 
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI 

       190        200        210        220        230        240 
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH 

       250        260        270        280        290        300 
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH 

       310        320        330        340        350        360 
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR 

       370        380        390        400        410        420 
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA 

       430        440        450        460        470        480 
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS 

       490        500        510        520        530        540 
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR 

       550        560        570        580        590        600 
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI 

       610        620        630        640        650        660 
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK 

       670        680        690        700        710        720 
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD 

       730        740        750        760        770        780 
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT 

       790        800        810        820        830        840 
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF 

       850        860        870        880        890        900 
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP 

       910        920        930        940        950        960 
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP 

       970        980        990       1000       1010       1020 
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL 

      1030       1040       1050       1060       1070       1080 
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA 

      1090       1100       1110       1120       1130       1140 
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG 

      1150       1160       1170       1180       1190       1200 
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV 

      1210       1220       1230       1240       1250       1260 
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI 

      1270       1280       1290       1300       1310       1320 
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG 

      1330       1340       1350       1360       1370       1380 
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT 

      1390       1400       1410       1420       1430       1440 
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI 

      1450       1460       1470       1480       1490       1500 
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL 

      1510       1520       1530       1540       1550       1560 
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED VENAIKDHSL 

      1570       1580       1590       1600       1610       1620 
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT 

      1630       1640       1650       1660       1670       1680 
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK 

      1690       1700       1710       1720       1730       1740 
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF 

      1750       1760       1770       1780       1790       1800 
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG 

      1810       1820       1830       1840       1850       1860 
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ 

      1870       1880       1890       1900       1910       1920 
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA 

      1930       1940       1950       1960       1970       1980 
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP 

      1990       2000       2010       2020       2030       2040 
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ 

      2050       2060       2070       2080       2090       2100 
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS 

      2110       2120       2130       2140       2150       2160 
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN 

      2170       2180       2190       2200       2210       2220 
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP 

      2230       2240       2250       2260       2270       2280 
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS 

      2290       2300       2310       2320       2330       2340 
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST 

      2350       2360       2370       2380       2390       2400 
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI 

      2410       2420       2430       2440       2450       2460 
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW 

      2470       2480       2490       2500       2510       2520 
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL 

      2530       2540       2550       2560       2570       2580 
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH 

      2590       2600       2610       2620       2630       2640 
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI 

      2650       2660       2670       2680       2690       2700 
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL 

      2710       2720       2730       2740       2750       2760 
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF 

      2770       2780       2790       2800       2810       2820 
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP 

      2830       2840       2850       2860       2870       2880 
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS 

      2890       2900       2910       2920       2930       2940 
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT 

      2950       2960       2970       2980       2990       3000 
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL 

      3010       3020       3030       3040       3050       3060 
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR 

      3070       3080       3090       3100       3110       3120 
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL 

      3130       3140       3150       3160       3170       3180 
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD 

      3190       3200       3210       3220       3230       3240 
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL 

      3250       3260       3270       3280       3290       3300 
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL 

      3310       3320       3330       3340       3350       3360 
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR YVVQIGDKII 

      3370       3380       3390       3400       3410       3420 
DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR GQLLALTIQH EKPDLEEQKT 

      3430       3440       3450       3460       3470       3480 
KLLQQEEDKK IQLAKLEESL LETLATSQGN ILENKDLIES LNQTKASSAL IQESLKESYK 

      3490       3500       3510       3520       3530       3540 
LQISLDQERD AYLPLAESAS KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT 

      3550       3560       3570       3580       3590       3600 
EQRIQSLISS LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM 

      3610       3620       3630       3640       3650       3660 
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT YYNNSMCEQE 

      3670       3680       3690       3700       3710       3720 
FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL KEVSPLPLNL KRLYKETLEI 

      3730       3740       3750       3760       3770       3780 
EPILIIISPG ADPSQELQEL ANAERSGECY HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK 

      3790       3800       3810       3820       3830       3840 
NLHLVVSWLP VLEKELNTLQ PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL 

      3850       3860       3870       3880       3890       3900 
MRTYESWTPE QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY 

      3910       3920       3930       3940       3950       3960 
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS SVIDVFNQRN 

      3970       3980       3990       4000       4010       4020 
KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA NIARSSQRMI SSQVISQLRI 

      4030       4040       4050       4060       4070       4080 
LGRSITAGSK FDREIWSNEL SPVLNLWKKL NQNSNLIHQK VPPPNDRQGS PILSFIILEQ 

      4090       4100       4110       4120       4130       4140 
FNAIRLVQSV HQSLAALSKV IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY 

      4150       4160       4170       4180       4190       4200 
LRGLVARALA IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF 

      4210       4220       4230       4240       4250       4260 
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM GWIPQDACGP 

      4270       4280       4290       4300 
YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA ALFLKNQ 

« Hide

Isoform 2 [UniParc].

Checksum: 5727DDAAA0693332
Show »

FASTA4,314493,420
Isoform 3 [UniParc].

Checksum: 6CBCEEF9DEF5869D
Show »

FASTA920105,369

References

« Hide 'large scale' references
[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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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]"Genetic analysis of the cytoplasmic dynein subunit families."
Pfister K.K., Shah P.R., Hummerich H., Russ A., Cotton J., Annuar A.A., King S.M., Fisher E.M.C.
PLoS Genet. 2:11-26(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NOMENCLATURE.
[11]"NEK1 mutations cause short-rib polydactyly syndrome type majewski."
Thiel C., Kessler K., Giessl A., Dimmler A., Shalev S.A., von der Haar S., Zenker M., Zahnleiter D., Stoess H., Beinder E., Abou Jamra R., Ekici A.B., Schroeder-Kress N., Aigner T., Kirchner T., Reis A., Brandstaetter J.H., Rauch A.
Am. J. Hum. Genet. 88:106-114(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN DIGENIC SHORT-RIB THORACIC DYSPLASIA 3/6 WITH POLYDACTYLY, VARIANT ASP-3909.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome."
Merrill A.E., Merriman B., Farrington-Rock C., Camacho N., Sebald E.T., Funari V.A., Schibler M.J., Firestein M.H., Cohn Z.A., Priore M.A., Thompson A.K., Rimoin D.L., Nelson S.F., Cohn D.H., Krakow D.
Am. J. Hum. Genet. 84:542-549(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRTD3 ILE-209; CYS-587 AND HIS-2205.
[14]"DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III."
Dagoneau N., Goulet M., Genevieve D., Sznajer Y., Martinovic J., Smithson S., Huber C., Baujat G., Flori E., Tecco L., Cavalcanti D., Delezoide A.-L., Serre V., Le Merrer M., Munnich A., Cormier-Daire V.
Am. J. Hum. Genet. 84:706-711(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRTD3 THR-1240; ALA-1987; LEU-1991; VAL-2461; GLY-3015 AND VAL-3762.
[15]"NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases."
El Hokayem J., Huber C., Couve A., Aziza J., Baujat G., Bouvier R., Cavalcanti D.P., Collins F.A., Cordier M.P., Delezoide A.L., Gonzales M., Johnson D., Le Merrer M., Levy-Mozziconacci A., Loget P., Martin-Coignard D., Martinovic J., Mortier G.R. expand/collapse author list , Perez M.J., Roume J., Scarano G., Munnich A., Cormier-Daire V.
J. Med. Genet. 49:227-233(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SRTD3 CYS-330; GLY-338; CYS-430; ARG-495; CYS-1423; SER-2496 AND GLN-2662.
[16]"Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement."
Schmidts M., Arts H.H., Bongers E.M., Yap Z., Oud M.M., Antony D., Duijkers L., Emes R.D., Stalker J., Yntema J.B., Plagnol V., Hoischen A., Gilissen C., Forsythe E., Lausch E., Veltman J.A., Roeleveld N., Superti-Furga A. expand/collapse author list , Kutkowska-Kazmierczak A., Kamsteeg E.J., Elcioglu N., van Maarle M.C., Graul-Neumann L.M., Devriendt K., Smithson S.F., Wellesley D., Verbeek N.E., Hennekam R.C., Kayserili H., Scambler P.J., Beales P.L., Knoers N.V., Roepman R., Mitchison H.M.
J. Med. Genet. 50:309-323(2013) [PubMed] [Europe PMC] [Abstract]
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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS44717.1. [Q8NCM8-2]
CCDS53701.1. [Q8NCM8-1]
RefSeqNP_001073932.1. NM_001080463.1. [Q8NCM8-2]
NP_001368.2. NM_001377.2. [Q8NCM8-1]
UniGeneHs.503721.

3D structure databases

ProteinModelPortalQ8NCM8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122785. 6 interactions.
IntActQ8NCM8. 4 interactions.
MINTMINT-8188622.

PTM databases

PhosphoSiteQ8NCM8.

Polymorphism databases

DMDM311033479.

Proteomic databases

MaxQBQ8NCM8.
PaxDbQ8NCM8.
PRIDEQ8NCM8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000334267; ENSP00000334021; ENSG00000187240. [Q8NCM8-3]
ENST00000375735; ENSP00000364887; ENSG00000187240. [Q8NCM8-1]
ENST00000398093; ENSP00000381167; ENSG00000187240. [Q8NCM8-2]
GeneID79659.
KEGGhsa:79659.
UCSCuc001phn.1. human. [Q8NCM8-2]
uc001pho.2. human. [Q8NCM8-1]
uc009yxe.1. human. [Q8NCM8-3]

Organism-specific databases

CTD79659.
GeneCardsGC11P102980.
HGNCHGNC:2962. DYNC2H1.
HPAHPA039016.
MIM603297. gene.
613091. phenotype.
neXtProtNX_Q8NCM8.
Orphanet474. Jeune syndrome.
93269. Short rib-polydactyly syndrome, Majewski type.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5245.
HOVERGENHBG107832.
KOK10414.
OMAQTIYSAY.
OrthoDBEOG773XF5.
PhylomeDBQ8NCM8.
TreeFamTF315251.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressQ8NCM8.
BgeeQ8NCM8.
GenevestigatorQ8NCM8.

Family and domain databases

Gene3D3.40.50.300. 4 hits.
InterProIPR003593. 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]
PANTHERPTHR10676. PTHR10676. 1 hit.
PTHR10676:SF34. PTHR10676:SF34. 1 hit.
PfamPF07728. 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]
SMARTSM00382. AAA. 3 hits.
[Graphical view]
SUPFAMSSF52540. SSF52540. 5 hits.
ProtoNetSearch...

Other

GeneWikiDYNC2H1.
GenomeRNAi79659.
NextBio68838.
PROQ8NCM8.
SOURCESearch...

Entry information

Entry nameDYHC2_HUMAN
AccessionPrimary (citable) accession number: Q8NCM8
Secondary accession number(s): O00432 expand/collapse secondary AC list , Q16693, Q3C1U8, Q4AC93, Q6ZMX7, Q6ZUM6, Q7Z363, Q8N977, Q92815, Q9HAE4
Entry history
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 90 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM