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UniProtKB - Q8NCM8 (DYHC2_HUMAN)

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
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

View the complete GO annotation on QuickGO ...

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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