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Protein

Cytoplasmic dynein 2 heavy chain 1

Gene

DYNC2H1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Nucleotide bindingi145 – 152ATPSequence analysis8
Nucleotide bindingi1689 – 1696ATPSequence analysis8
Nucleotide bindingi1979 – 1986ATPSequence analysis8
Nucleotide bindingi2291 – 2298ATPSequence analysis8
Nucleotide bindingi2655 – 2662ATPSequence analysis8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent microtubule motor activity, minus-end-directed Source: GO_Central
  • dynein intermediate chain binding Source: GO_Central
  • dynein light chain binding Source: GO_Central
  • dynein light intermediate chain binding Source: GO_Central
  • motor activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Motor protein
Biological processCilium biogenesis/degradation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000187240.13
HGNCiHGNC:2962 DYNC2H1
MIMi603297 gene
neXtProtiNX_Q8NCM8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)4 Publications
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
Disease descriptionA 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.
See also OMIM:613091
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063242209F → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs771511132EnsemblClinVar.1
Natural variantiVAR_069591330R → C in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs397514637EnsemblClinVar.1
Natural variantiVAR_069592338R → G in SRTD3. 1 Publication1
Natural variantiVAR_069593430R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs374073337EnsemblClinVar.1
Natural variantiVAR_069594495K → R in SRTD3. 1 Publication1
Natural variantiVAR_063243587R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853030EnsemblClinVar.1
Natural variantiVAR_069595871L → P in SRTD3. 1 Publication1
Natural variantiVAR_0695961228L → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs189806840EnsemblClinVar.1
Natural variantiVAR_0632441240I → T in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853028EnsemblClinVar.1
Natural variantiVAR_0695971379M → V in SRTD3. 1 Publication1
Natural variantiVAR_0695981423R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs745870321EnsemblClinVar.1
Natural variantiVAR_0695991442G → D in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs763571787Ensembl.1
Natural variantiVAR_0632451537Q → R in SRTD3. Corresponds to variant dbSNP:rs137853033EnsemblClinVar.1
Natural variantiVAR_0632461987T → A in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853035EnsemblClinVar.1
Natural variantiVAR_0696001991M → K in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1202784860Ensembl.1
Natural variantiVAR_0632471991M → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853025EnsemblClinVar.1
Natural variantiVAR_0632482205R → H in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853031EnsemblClinVar.1
Natural variantiVAR_0696012227M → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs750249486Ensembl.1
Natural variantiVAR_0696022304A → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs747348765EnsemblClinVar.1
Natural variantiVAR_0696032362N → S in SRTD3. 1 Publication1
Natural variantiVAR_0632492461G → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853034EnsemblClinVar.1
Natural variantiVAR_0696042481R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs781326398Ensembl.1
Natural variantiVAR_0696052496P → S in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514636EnsemblClinVar.1
Natural variantiVAR_0696062532R → W in SRTD3. 1 Publication1
Natural variantiVAR_0696072555V → M in SRTD3. 1 Publication1
Natural variantiVAR_0696082573Y → C in SRTD3. 1 Publication1
Natural variantiVAR_0696092640I → T in SRTD3. 1 Publication1
Natural variantiVAR_0696102662R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514635EnsemblClinVar.1
Natural variantiVAR_0696112819I → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1060501431Ensembl.1
Natural variantiVAR_0632503015D → G in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853027EnsemblClinVar.1
Natural variantiVAR_0696123381P → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs368631447Ensembl.1
Natural variantiVAR_0632513762L → V in SRTD3. 1 Publication1
Natural variantiVAR_0696133806R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs754753584Ensembl.1
Natural variantiVAR_0696143847W → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs752554582Ensembl.1
Natural variantiVAR_0696164232L → R in SRTD3. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi79659
MalaCardsiDYNC2H1
MIMi613091 phenotype
OpenTargetsiENSG00000187240
Orphaneti474 Jeune syndrome
93269 Short rib-polydactyly syndrome, Majewski type
93270 Short rib-polydactyly syndrome, Saldino-Noonan type
93271 Short rib-polydactyly syndrome, Verma-Naumoff type

Polymorphism and mutation databases

BioMutaiDYNC2H1
DMDMi311033479

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003187431 – 4307Cytoplasmic dynein 2 heavy chain 1Add BLAST4307

Proteomic databases

EPDiQ8NCM8
MaxQBiQ8NCM8
PaxDbiQ8NCM8
PeptideAtlasiQ8NCM8
PRIDEiQ8NCM8
ProteomicsDBi72909
72910 [Q8NCM8-2]
72911 [Q8NCM8-3]

PTM databases

iPTMnetiQ8NCM8
PhosphoSitePlusiQ8NCM8

Expressioni

Gene expression databases

BgeeiENSG00000187240 Expressed in 178 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ8NCM8 baseline and differential
GenevisibleiQ8NCM8 HS

Organism-specific databases

HPAiHPA039015
HPA039016

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122785, 34 interactors
CORUMiQ8NCM8
IntActiQ8NCM8, 19 interactors
MINTiQ8NCM8
STRINGi9606.ENSP00000381167

Structurei

Secondary structure

14307
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8NCM8
SMRiQ8NCM8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 1650StemBy similarityAdd BLAST1650
Regioni1651 – 1875AAA 1By similarityAdd BLAST225
Regioni1938 – 2161AAA 2By similarityAdd BLAST224
Regioni2251 – 2505AAA 3By similarityAdd BLAST255
Regioni2617 – 2863AAA 4By similarityAdd BLAST247
Regioni2881 – 3169StalkBy similarityAdd BLAST289
Regioni3244 – 3473AAA 5By similarityAdd BLAST230
Regioni3690 – 3905AAA 6By similarityAdd BLAST216

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1074 – 1103Sequence analysisAdd BLAST30
Coiled coili2897 – 2982Sequence analysisAdd BLAST86
Coiled coili3109 – 3200Sequence analysisAdd BLAST92
Coiled coili3408 – 3442Sequence analysisAdd BLAST35

Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3595 Eukaryota
COG5245 LUCA
GeneTreeiENSGT00910000144015
HOVERGENiHBG107832
InParanoidiQ8NCM8
KOiK10414
OMAiANAHRAW
OrthoDBiEOG091G0313
PhylomeDBiQ8NCM8
TreeFamiTF315251

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR035699 AAA_6
IPR011704 ATPase_dyneun-rel_AAA
IPR035706 DHC_D5
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
PANTHERiPTHR10676 PTHR10676, 1 hit
PTHR10676:SF352 PTHR10676:SF352, 1 hit
PfamiView protein in Pfam
PF07728 AAA_5, 1 hit
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF08385 DHC_N1, 1 hit
PF08393 DHC_N2, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 3 hits
SUPFAMiSSF52540 SSF52540, 4 hits

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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
        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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YDE0H0YDE0_HUMAN
Cytoplasmic dynein 2 heavy chain 1
DYNC2H1
378Annotation score:
H0YEX1H0YEX1_HUMAN
Cytoplasmic dynein 2 heavy chain 1
DYNC2H1
224Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti174D → G in BAE17138 (Ref. 1) Curated1
Sequence conflicti178F → L in BAE17138 (Ref. 1) Curated1
Sequence conflicti594F → L in BAE17138 (Ref. 1) Curated1
Sequence conflicti1120I → N in AAB09728 (PubMed:8666668).Curated1
Sequence conflicti1168D → V in AAB09728 (PubMed:8666668).Curated1
Sequence conflicti1784N → H in CAB06054 (PubMed:9373155).Curated1
Sequence conflicti1864W → Y in CAB06054 (PubMed:9373155).Curated1
Sequence conflicti1866 – 1867LR → FS in CAB06054 (PubMed:9373155).Curated2
Sequence conflicti1930E → K in BAE46899 (Ref. 1) Curated1
Sequence conflicti3095A → V in CAD98012 (PubMed:17974005).Curated1
Sequence conflicti3665L → P in CAD98012 (PubMed:17974005).Curated1
Sequence conflicti4258C → R in BAB13905 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063242209F → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs771511132EnsemblClinVar.1
Natural variantiVAR_038862302T → P. Corresponds to variant dbSNP:rs12803695Ensembl.1
Natural variantiVAR_038863304Q → L. Corresponds to variant dbSNP:rs12146610EnsemblClinVar.1
Natural variantiVAR_069591330R → C in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs397514637EnsemblClinVar.1
Natural variantiVAR_069592338R → G in SRTD3. 1 Publication1
Natural variantiVAR_038864341H → Y. Corresponds to variant dbSNP:rs17301182EnsemblClinVar.1
Natural variantiVAR_069593430R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs374073337EnsemblClinVar.1
Natural variantiVAR_038865456R → Q. Corresponds to variant dbSNP:rs17099969EnsemblClinVar.1
Natural variantiVAR_069594495K → R in SRTD3. 1 Publication1
Natural variantiVAR_063243587R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853030EnsemblClinVar.1
Natural variantiVAR_038866789R → K. Corresponds to variant dbSNP:rs7358374Ensembl.1
Natural variantiVAR_069595871L → P in SRTD3. 1 Publication1
Natural variantiVAR_0388671221R → K. Corresponds to variant dbSNP:rs12794914Ensembl.1
Natural variantiVAR_0695961228L → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs189806840EnsemblClinVar.1
Natural variantiVAR_0632441240I → T in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853028EnsemblClinVar.1
Natural variantiVAR_0388681288T → A. Corresponds to variant dbSNP:rs17301750EnsemblClinVar.1
Natural variantiVAR_0695971379M → V in SRTD3. 1 Publication1
Natural variantiVAR_0388691413K → R1 PublicationCorresponds to variant dbSNP:rs688906EnsemblClinVar.1
Natural variantiVAR_0695981423R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs745870321EnsemblClinVar.1
Natural variantiVAR_0695991442G → D in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs763571787Ensembl.1
Natural variantiVAR_0632451537Q → R in SRTD3. Corresponds to variant dbSNP:rs137853033EnsemblClinVar.1
Natural variantiVAR_0632461987T → A in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853035EnsemblClinVar.1
Natural variantiVAR_0696001991M → K in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1202784860Ensembl.1
Natural variantiVAR_0632471991M → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853025EnsemblClinVar.1
Natural variantiVAR_0632482205R → H in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853031EnsemblClinVar.1
Natural variantiVAR_0696012227M → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs750249486Ensembl.1
Natural variantiVAR_0696022304A → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs747348765EnsemblClinVar.1
Natural variantiVAR_0696032362N → S in SRTD3. 1 Publication1
Natural variantiVAR_0632492461G → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853034EnsemblClinVar.1
Natural variantiVAR_0696042481R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs781326398Ensembl.1
Natural variantiVAR_0696052496P → S in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514636EnsemblClinVar.1
Natural variantiVAR_0696062532R → W in SRTD3. 1 Publication1
Natural variantiVAR_0696072555V → M in SRTD3. 1 Publication1
Natural variantiVAR_0696082573Y → C in SRTD3. 1 Publication1
Natural variantiVAR_0696092640I → T in SRTD3. 1 Publication1
Natural variantiVAR_0696102662R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514635EnsemblClinVar.1
Natural variantiVAR_0696112819I → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1060501431Ensembl.1
Natural variantiVAR_0388702871R → Q2 PublicationsCorresponds to variant dbSNP:rs589623EnsemblClinVar.1
Natural variantiVAR_0632503015D → G in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853027EnsemblClinVar.1
Natural variantiVAR_0696123381P → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs368631447Ensembl.1
Natural variantiVAR_0388713680A → V1 PublicationCorresponds to variant dbSNP:rs10895391Ensembl.1
Natural variantiVAR_0632513762L → V in SRTD3. 1 Publication1
Natural variantiVAR_0696133806R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs754753584Ensembl.1
Natural variantiVAR_0696143847W → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs752554582Ensembl.1
Natural variantiVAR_0696153909G → D Probable disease-associated mutation found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. 1 PublicationCorresponds to variant dbSNP:rs201479015Ensembl.1
Natural variantiVAR_0388723976S → N. Corresponds to variant dbSNP:rs4754914Ensembl.1
Natural variantiVAR_0388734139Q → P. Corresponds to variant dbSNP:rs1793493Ensembl.1
Natural variantiVAR_0696164232L → R in SRTD3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_031282736 – 4122Missing in isoform 3. 1 PublicationAdd BLAST3387
Alternative sequenceiVSP_0312833273Q → QIIGLKSW in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2 human [Q8NCM8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RH7X-ray3.41A1091-4307[»]
ProteinModelPortaliQ8NCM8
SMRiQ8NCM8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122785, 34 interactors
CORUMiQ8NCM8
IntActiQ8NCM8, 19 interactors
MINTiQ8NCM8
STRINGi9606.ENSP00000381167

PTM databases

iPTMnetiQ8NCM8
PhosphoSitePlusiQ8NCM8

Polymorphism and mutation databases

BioMutaiDYNC2H1
DMDMi311033479

Proteomic databases

EPDiQ8NCM8
MaxQBiQ8NCM8
PaxDbiQ8NCM8
PeptideAtlasiQ8NCM8
PRIDEiQ8NCM8
ProteomicsDBi72909
72910 [Q8NCM8-2]
72911 [Q8NCM8-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi79659
DisGeNETi79659
EuPathDBiHostDB:ENSG00000187240.13
GeneCardsiDYNC2H1
HGNCiHGNC:2962 DYNC2H1
HPAiHPA039015
HPA039016
MalaCardsiDYNC2H1
MIMi603297 gene
613091 phenotype
neXtProtiNX_Q8NCM8
OpenTargetsiENSG00000187240
Orphaneti474 Jeune syndrome
93269 Short rib-polydactyly syndrome, Majewski type
93270 Short rib-polydactyly syndrome, Saldino-Noonan type
93271 Short rib-polydactyly syndrome, Verma-Naumoff type
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595 Eukaryota
COG5245 LUCA
GeneTreeiENSGT00910000144015
HOVERGENiHBG107832
InParanoidiQ8NCM8
KOiK10414
OMAiANAHRAW
OrthoDBiEOG091G0313
PhylomeDBiQ8NCM8
TreeFamiTF315251

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

Miscellaneous databases

ChiTaRSiDYNC2H1 human
GeneWikiiDYNC2H1
GenomeRNAii79659
PROiPR:Q8NCM8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187240 Expressed in 178 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ8NCM8 baseline and differential
GenevisibleiQ8NCM8 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR035699 AAA_6
IPR011704 ATPase_dyneun-rel_AAA
IPR035706 DHC_D5
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
PANTHERiPTHR10676 PTHR10676, 1 hit
PTHR10676:SF352 PTHR10676:SF352, 1 hit
PfamiView protein in Pfam
PF07728 AAA_5, 1 hit
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF08385 DHC_N1, 1 hit
PF08393 DHC_N2, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 3 hits
SUPFAMiSSF52540 SSF52540, 4 hits
ProtoNetiSearch...

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 historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 136 of the entry and version 4 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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