SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8NCM8

- DYHC2_HUMAN

UniProt

Q8NCM8 - DYHC2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Cytoplasmic dynein 2 heavy chain 1
Gene
DYNC2H1, DHC1B, DHC2, DNCH2, DYH1B, KIAA1997
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.

Regions

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

GO - Molecular functioni

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

GO - Biological processi

  1. Golgi organization Source: UniProtKB
  2. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
  3. asymmetric protein localization Source: Ensembl
  4. cilium assembly Source: Ensembl
  5. determination of left/right symmetry Source: Ensembl
  6. dorsal/ventral pattern formation Source: Ensembl
  7. embryonic limb morphogenesis Source: Ensembl
  8. forebrain development Source: Ensembl
  9. microtubule-based movement Source: InterPro
  10. protein processing Source: Ensembl
  11. 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; Peripheral membrane protein By similarity. Cytoplasm By similarity
Note: Localizes to the apical cytoplasm By similarity. According to 1 Publication, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum.1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. apical part of cell Source: Ensembl
  3. cytosol Source: Reactome
  4. dynein complex Source: UniProtKB-KW
  5. extracellular vesicular exosome Source: UniProt
  6. microtubule Source: UniProtKB
  7. motile primary cilium Source: Ensembl
  8. plasma membrane Source: UniProtKB-SubCell
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.
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) (1 Publication).4 Publications
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 1
PRO_0000318743Add
BLAST

Proteomic databases

MaxQBiQ8NCM8.
PaxDbiQ8NCM8.
PRIDEiQ8NCM8.

PTM databases

PhosphoSiteiQ8NCM8.

Expressioni

Gene expression databases

ArrayExpressiQ8NCM8.
BgeeiQ8NCM8.
GenevestigatoriQ8NCM8.

Organism-specific databases

HPAiHPA039016.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ8NCM8.

Family & Domainsi

Region

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili1074 – 110330 Reviewed prediction
Add
BLAST
Coiled coili2897 – 298286 Reviewed prediction
Add
BLAST
Coiled coili3109 – 320092 Reviewed prediction
Add
BLAST
Coiled coili3408 – 344235 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR026815. DYNC2H1.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013594. Dynein_heavy_dom-1.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PTHR10676:SF34. PTHR10676:SF34. 1 hit.
PfamiPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08385. DHC_N1. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 3 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NCM8-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

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

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

Note: No experimental confirmation available.

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

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

Note: No experimental confirmation available.

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

Sequence cautioni

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

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.
VSP_031282Add
BLAST
Alternative sequencei3273 – 32731Q → QIIGLKSW in isoform 2.
VSP_031283

Sequence conflict

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

Sequence databases

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

Genome annotation databases

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

Polymorphism databases

DMDMi311033479.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

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

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSitei Q8NCM8.

Polymorphism databases

DMDMi 311033479.

Proteomic databases

MaxQBi Q8NCM8.
PaxDbi Q8NCM8.
PRIDEi Q8NCM8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

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

Organism-specific databases

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

Phylogenomic databases

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

Enzyme and pathway databases

Reactomei REACT_121399. MHC class II antigen presentation.

Miscellaneous databases

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

Gene expression databases

ArrayExpressi Q8NCM8.
Bgeei Q8NCM8.
Genevestigatori Q8NCM8.

Family and domain databases

Gene3Di 3.40.50.300. 4 hits.
InterProi IPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR026815. DYNC2H1.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013594. Dynein_heavy_dom-1.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR10676. PTHR10676. 1 hit.
PTHR10676:SF34. PTHR10676:SF34. 1 hit.
Pfami PF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08385. DHC_N1. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view ]
SMARTi SM00382. AAA. 3 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 5 hits.
ProtoNeti Search...

Publicationsi

« 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: September 3, 2014
This is version 91 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

Similar proteinsi