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Q8NCM8

- DYHC2_HUMAN

UniProt

Q8NCM8 - DYHC2_HUMAN

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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

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. intraciliary retrograde transport Source: Ensembl
  10. positive regulation of smoothened signaling pathway Source: Ensembl
  11. protein processing Source: Ensembl
  12. spinal cord motor neuron differentiation Source: Ensembl
Complete GO annotation...

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. axoneme Source: Ensembl
  3. cytosol Source: Reactome
  4. dynein complex Source: UniProtKB-KW
  5. extracellular vesicular exosome Source: UniProt
  6. Golgi apparatus Source: UniProtKB
  7. microtubule Source: UniProtKB
  8. motile primary cilium Source: Ensembl
  9. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ8NCM8.
ExpressionAtlasiQ8NCM8. baseline and differential.
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. 7 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.
GeneTreeiENSGT00760000118964.
HOVERGENiHBG107832.
InParanoidiQ8NCM8.
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.

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        10         20         30         40         50
MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML
60 70 80 90 100
LRVQRSDAGI SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM
110 120 130 140 150
LESPISSLYQ AVRQVFAPML LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR
160 170 180 190 200
RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI EQAHRGNKQI SKERANYFKE
210 220 230 240 250
LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH DHYPESRMLH
260 270 280 290 300
LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
310 320 330 340 350
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA
360 370 380 390 400
SEEKIICLTR VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA
410 420 430 440 450
GKLKNYISEI QDSPQQLLQA FLKYKELVKR PTISKELMLE RETLLARLVD
460 470 480 490 500
SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS EVVNSIVWVR QLELKVDDTI
510 520 530 540 550
KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR DIQSGLSDSR
560 570 580 590 600
SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
610 620 630 640 650
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII
660 670 680 690 700
KNSKAGSGGK SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC
710 720 730 740 750
EKVVVLMNID LLRQQQRWKD GLQELRTGLA TVEAQGFQAS DMHAWKQHWN
760 770 780 790 800
HQLYKALEHQ YQMGLEALNE NLPEINIDLT YKQGRLQFRP PFEEIRAKYY
810 820 830 840 850
REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF SKAEDLFRRL
860 870 880 890 900
SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
910 920 930 940 950
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT
960 970 980 990 1000
EAMEVLTIMP QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV
1010 1020 1030 1040 1050
AGGGLETISN LKAKWDKFEL MMESHQLMIK DQIEVMKGNV KSRLQIYYQE
1060 1070 1080 1090 1100
LEKFKARWDQ LKPGDDVIET GQHNTLDKSA KLIKEKKIEF DDLEVTRKKL
1110 1120 1130 1140 1150
VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG FQEMANEDWI
1160 1170 1180 1190 1200
TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
1210 1220 1230 1240 1250
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL
1260 1270 1280 1290 1300
NSRAQGEVTI REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN
1310 1320 1330 1340 1350
QVGDNRCLLQ SLKDSPYYKG FEDKVSIWER KLAELDEYLQ NLNHIQRKWV
1360 1370 1380 1390 1400
YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT DIKKDNRVTT LTTHAGIRNS
1410 1420 1430 1440 1450
LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI LGQSTNPSVI
1460 1470 1480 1490 1500
QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
1510 1520 1530 1540 1550
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED
1560 1570 1580 1590 1600
VENAIKDHSL HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI
1610 1620 1630 1640 1650
LDIIHNIDVV KQLNQIQVHT TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ
1660 1670 1680 1690 1700
YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK MGLGGNPYGP AGTGKTESVK
1710 1720 1730 1740 1750
ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF DEFNRLEESV
1760 1770 1780 1790 1800
LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
1810 1820 1830 1840 1850
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN
1860 1870 1880 1890 1900
LSRELLTPQQ HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ
1910 1920 1930 1940 1950
ALRLNTMSKF TFTDCTRFDA LIKDVFPGIE LKEVEYDELS AALKQVFEEA
1960 1970 1980 1990 2000
NYEIIPNQIK KALELYEQLC QRMGVVIVGP SGAGKSTLWR MLRAALCKTG
2010 2020 2030 2040 2050
KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ VVREPQDVSS
2060 2070 2080 2090 2100
WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
2110 2120 2130 2140 2150
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE
2160 2170 2180 2190 2200
KALQWVLKQN DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL
2210 2220 2230 2240 2250
NMKSRLEFTK EVFHWARESP PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT
2260 2270 2280 2290 2300
ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS SDTKQPFILV GPEGCGKGML
2310 2320 2330 2340 2350
LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST NTGRVYRPKD
2360 2370 2380 2390 2400
CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
2410 2420 2430 2440 2450
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL
2460 2470 2480 2490 2500
HKNLKNHSIW GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT
2510 2520 2530 2540 2550
QWVLGLFRYD LEGGSSNHPL DYVLEIVAYE ARRLFRDKIV GAKELHLFDI
2560 2570 2580 2590 2600
ILTSVFQGDW GSDILDNMSD SFYVTWGARH NSGARAAPGQ PLPPHGKPLG
2610 2620 2630 2640 2650
KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI DRVLSFPGGS
2660 2670 2680 2690 2700
LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
2710 2720 2730 2740 2750
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP
2760 2770 2780 2790 2800
LKDQASQDGF FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH
2810 2820 2830 2840 2850
KKCQVLWMEG WSNSSMKKIP EMLFSETGGG EKYNDKKRKE EKKKNSVDPD
2860 2870 2880 2890 2900
FLKSFLLIHE SCKAYGATPS RYMTFLHVYS AISSSKKKEL LKRQSHLQAG
2910 2920 2930 2940 2950
VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT VSMQDASEQK
2960 2970 2980 2990 3000
TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
3010 3020 3030 3040 3050
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF
3060 3070 3080 3090 3100
DARNISKEIR ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS
3110 3120 3130 3140 3150
HVLERIHPLE TEQAGLESNL KKTEDRKRKL EELLNSVGQK VSELKEKFQS
3160 3170 3180 3190 3200
RTSEAAKLEA EVSKAQETIK AAEVLINQLD REHKRWNAQV VEITEELATL
3210 3220 3230 3240 3250
PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL RRFLCTESEQ
3260 3270 3280 3290 3300
LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
3310 3320 3330 3340 3350
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR
3360 3370 3380 3390 3400
YVVQIGDKII DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR
3410 3420 3430 3440 3450
GQLLALTIQH EKPDLEEQKT KLLQQEEDKK IQLAKLEESL LETLATSQGN
3460 3470 3480 3490 3500
ILENKDLIES LNQTKASSAL IQESLKESYK LQISLDQERD AYLPLAESAS
3510 3520 3530 3540 3550
KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT EQRIQSLISS
3560 3570 3580 3590 3600
LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
3610 3620 3630 3640 3650
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT
3660 3670 3680 3690 3700
YYNNSMCEQE FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL
3710 3720 3730 3740 3750
KEVSPLPLNL KRLYKETLEI EPILIIISPG ADPSQELQEL ANAERSGECY
3760 3770 3780 3790 3800
HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK NLHLVVSWLP VLEKELNTLQ
3810 3820 3830 3840 3850
PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL MRTYESWTPE
3860 3870 3880 3890 3900
QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
3910 3920 3930 3940 3950
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS
3960 3970 3980 3990 4000
SVIDVFNQRN KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA
4010 4020 4030 4040 4050
NIARSSQRMI SSQVISQLRI LGRSITAGSK FDREIWSNEL SPVLNLWKKL
4060 4070 4080 4090 4100
NQNSNLIHQK VPPPNDRQGS PILSFIILEQ FNAIRLVQSV HQSLAALSKV
4110 4120 4130 4140 4150
IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY LRGLVARALA
4160 4170 4180 4190 4200
IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
4210 4220 4230 4240 4250
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM
4260 4270 4280 4290 4300
GWIPQDACGP YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA

ALFLKNQ
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. 7 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.
GeneTreei ENSGT00760000118964.
HOVERGENi HBG107832.
InParanoidi Q8NCM8.
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

Bgeei Q8NCM8.
ExpressionAtlasi Q8NCM8. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 93 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