UniProtKB - Q8NCM8 (DYHC2_HUMAN)
Protein
Cytoplasmic dynein 2 heavy chain 1
Gene
DYNC2H1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 145 – 152 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 1689 – 1696 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 1979 – 1986 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 2291 – 2298 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 2655 – 2662 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP-dependent microtubule motor activity, minus-end-directed Source: InterPro
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
- motor activity Source: UniProtKB
GO - Biological processi
- cilium assembly Source: GO_Central
- coronary vasculature development Source: Ensembl
- determination of left/right symmetry Source: Ensembl
- dorsal/ventral pattern formation Source: Ensembl
- embryonic limb morphogenesis Source: Ensembl
- forebrain development Source: Ensembl
- Golgi organization Source: UniProtKB
- intraciliary retrograde transport Source: GO_Central
- intraciliary transport involved in cilium assembly Source: Reactome
- kidney development Source: Ensembl
- microtubule-based movement Source: GO_Central
- non-motile cilium assembly Source: Ensembl
- positive regulation of smoothened signaling pathway Source: Ensembl
- protein localization to cilium Source: Ensembl
- protein processing Source: Ensembl
- spinal cord motor neuron differentiation Source: Ensembl
Keywordsi
Molecular function | Developmental protein, Motor protein |
Biological process | Cilium biogenesis/degradation |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8NCM8 |
Reactomei | R-HSA-5610787, Hedgehog 'off' state R-HSA-5620924, Intraflagellar transport |
Names & Taxonomyi
Protein namesi | Recommended name: Cytoplasmic dynein 2 heavy chain 1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000187240.13 |
HGNCi | HGNC:2962, DYNC2H1 |
MIMi | 603297, gene |
neXtProti | NX_Q8NCM8 |
Subcellular locationi
Cytoskeleton
- cilium axoneme By similarity
Plasma membrane
- Cell membrane By similarity; Peripheral membrane protein By similarity
Other locations
- Cytoplasm By similarity
Note: Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668).By similarity1 Publication
Cytoskeleton
- axoneme Source: GO_Central
- cytoplasmic dynein complex Source: GO_Central
- dynein complex Source: GO_Central
- microtubule Source: UniProtKB
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Golgi apparatus
- Golgi apparatus Source: UniProtKB
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- apical part of cell Source: Ensembl
- ciliary tip Source: Reactome
- cilium Source: Reactome
- motile cilium Source: GO_Central
Keywords - Cellular componenti
Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Membrane, MicrotubulePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063242 | 209 | F → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs771511132EnsemblClinVar. | 1 | |
Natural variantiVAR_069591 | 330 | R → C in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs397514637EnsemblClinVar. | 1 | |
Natural variantiVAR_069592 | 338 | R → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1322077043Ensembl. | 1 | |
Natural variantiVAR_069593 | 430 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs374073337EnsemblClinVar. | 1 | |
Natural variantiVAR_069594 | 495 | K → R in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_063243 | 587 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853030EnsemblClinVar. | 1 | |
Natural variantiVAR_069595 | 871 | L → P in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_069596 | 1228 | L → I in SRTD3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs189806840EnsemblClinVar. | 1 | |
Natural variantiVAR_063244 | 1240 | I → T in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853028EnsemblClinVar. | 1 | |
Natural variantiVAR_069597 | 1379 | M → V in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_069598 | 1423 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs745870321EnsemblClinVar. | 1 | |
Natural variantiVAR_069599 | 1442 | G → D in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs763571787Ensembl. | 1 | |
Natural variantiVAR_063245 | 1537 | Q → R in SRTD3. Corresponds to variant dbSNP:rs137853033EnsemblClinVar. | 1 | |
Natural variantiVAR_063246 | 1987 | T → A in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853035EnsemblClinVar. | 1 | |
Natural variantiVAR_069600 | 1991 | M → K in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1202784860EnsemblClinVar. | 1 | |
Natural variantiVAR_063247 | 1991 | M → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853025EnsemblClinVar. | 1 | |
Natural variantiVAR_063248 | 2205 | R → H in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853031EnsemblClinVar. | 1 | |
Natural variantiVAR_069601 | 2227 | M → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs750249486Ensembl. | 1 | |
Natural variantiVAR_069602 | 2304 | A → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs747348765EnsemblClinVar. | 1 | |
Natural variantiVAR_069603 | 2362 | N → S in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_063249 | 2461 | G → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853034EnsemblClinVar. | 1 | |
Natural variantiVAR_069604 | 2481 | R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs781326398EnsemblClinVar. | 1 | |
Natural variantiVAR_069605 | 2496 | P → S in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514636EnsemblClinVar. | 1 | |
Natural variantiVAR_069606 | 2532 | R → W in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1350329646EnsemblClinVar. | 1 | |
Natural variantiVAR_069607 | 2555 | V → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs746195428EnsemblClinVar. | 1 | |
Natural variantiVAR_069608 | 2573 | Y → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1278825521Ensembl. | 1 | |
Natural variantiVAR_069609 | 2640 | I → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1265669915EnsemblClinVar. | 1 | |
Natural variantiVAR_069610 | 2662 | R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514635EnsemblClinVar. | 1 | |
Natural variantiVAR_069611 | 2819 | I → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1060501431EnsemblClinVar. | 1 | |
Natural variantiVAR_063250 | 3015 | D → G in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853027EnsemblClinVar. | 1 | |
Natural variantiVAR_069612 | 3381 | P → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs368631447EnsemblClinVar. | 1 | |
Natural variantiVAR_063251 | 3762 | L → V in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_069613 | 3806 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs754753584Ensembl. | 1 | |
Natural variantiVAR_069614 | 3847 | W → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs752554582Ensembl. | 1 | |
Natural variantiVAR_069616 | 4232 | L → R in SRTD3. 1 Publication | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutationOrganism-specific databases
DisGeNETi | 79659 |
MalaCardsi | DYNC2H1 |
MIMi | 613091, phenotype |
OpenTargetsi | ENSG00000187240 |
Orphaneti | 474, 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 |
Miscellaneous databases
Pharosi | Q8NCM8, Tbio |
Polymorphism and mutation databases
BioMutai | DYNC2H1 |
DMDMi | 311033479 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000318743 | 1 – 4307 | Cytoplasmic dynein 2 heavy chain 1Add BLAST | 4307 |
Proteomic databases
EPDi | Q8NCM8 |
jPOSTi | Q8NCM8 |
MassIVEi | Q8NCM8 |
MaxQBi | Q8NCM8 |
PaxDbi | Q8NCM8 |
PeptideAtlasi | Q8NCM8 |
PRIDEi | Q8NCM8 |
ProteomicsDBi | 72909 [Q8NCM8-1] 72910 [Q8NCM8-2] 72911 [Q8NCM8-3] |
PTM databases
iPTMneti | Q8NCM8 |
PhosphoSitePlusi | Q8NCM8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000187240, Expressed in secondary oocyte and 194 other tissues |
ExpressionAtlasi | Q8NCM8, baseline and differential |
Genevisiblei | Q8NCM8, HS |
Organism-specific databases
HPAi | ENSG00000187240, Tissue enhanced (pituitary) |
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 similarityGO - Molecular functioni
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 122785, 41 interactors |
CORUMi | Q8NCM8 |
IntActi | Q8NCM8, 28 interactors |
MINTi | Q8NCM8 |
STRINGi | 9606.ENSP00000381167 |
Miscellaneous databases
RNActi | Q8NCM8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8NCM8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 1650 | StemBy similarityAdd BLAST | 1650 | |
Regioni | 1651 – 1875 | AAA 1By similarityAdd BLAST | 225 | |
Regioni | 1938 – 2161 | AAA 2By similarityAdd BLAST | 224 | |
Regioni | 2251 – 2505 | AAA 3By similarityAdd BLAST | 255 | |
Regioni | 2617 – 2863 | AAA 4By similarityAdd BLAST | 247 | |
Regioni | 2881 – 3169 | StalkBy similarityAdd BLAST | 289 | |
Regioni | 3244 – 3473 | AAA 5By similarityAdd BLAST | 230 | |
Regioni | 3690 – 3905 | AAA 6By similarityAdd BLAST | 216 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1074 – 1103 | Sequence analysisAdd BLAST | 30 | |
Coiled coili | 2897 – 2982 | Sequence analysisAdd BLAST | 86 | |
Coiled coili | 3109 – 3200 | Sequence analysisAdd BLAST | 92 | |
Coiled coili | 3408 – 3442 | Sequence analysisAdd BLAST | 35 |
Sequence similaritiesi
Belongs to the dynein heavy chain family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG3595, Eukaryota |
GeneTreei | ENSGT00940000154620 |
HOGENOMi | CLU_000038_7_2_1 |
InParanoidi | Q8NCM8 |
OMAi | TSWIICD |
OrthoDBi | 26380at2759 |
PhylomeDBi | Q8NCM8 |
TreeFami | TF315251 |
Family and domain databases
Gene3Di | 1.10.8.710, 1 hit 1.10.8.720, 1 hit 1.20.140.100, 1 hit 3.10.490.20, 1 hit 3.20.180.20, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR035699, AAA_6 IPR035706, AAA_9 IPR041658, AAA_lid_11 IPR042219, AAA_lid_11_sf IPR042228, Dynein_2_C IPR042222, Dynein_2_N IPR043157, Dynein_AAA1S IPR041228, Dynein_C IPR043160, Dynein_C_barrel IPR024743, Dynein_HC_stalk IPR024317, Dynein_heavy_chain_D4_dom IPR004273, Dynein_heavy_D6_P-loop IPR013594, Dynein_heavy_dom-1 IPR013602, Dynein_heavy_dom-2 IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF12774, AAA_6, 1 hit PF12780, AAA_8, 1 hit PF12781, AAA_9, 1 hit PF18198, AAA_lid_11, 1 hit PF08385, DHC_N1, 1 hit PF08393, DHC_N2, 1 hit PF18199, Dynein_C, 1 hit PF03028, Dynein_heavy, 1 hit PF12777, MT, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 3 hits |
SUPFAMi | SSF52540, SSF52540, 4 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YDE0 | H0YDE0_HUMAN | Cytoplasmic dynein 2 heavy chain 1 | DYNC2H1 | 378 | Annotation score: | ||
A0A3B3ISP9 | A0A3B3ISP9_HUMAN | Cytoplasmic dynein 2 heavy chain 1 | DYNC2H1 | 1,255 | Annotation score: | ||
A0A3B3IT36 | A0A3B3IT36_HUMAN | Cytoplasmic dynein 2 heavy chain 1 | DYNC2H1 | 751 | Annotation score: | ||
H0YEX1 | H0YEX1_HUMAN | Cytoplasmic dynein 2 heavy chain 1 | DYNC2H1 | 224 | Annotation score: |
Sequence cautioni
The sequence BAB13905 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04578 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAD18598 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 174 | D → G in BAE17138 (Ref. 1) Curated | 1 | |
Sequence conflicti | 178 | F → L in BAE17138 (Ref. 1) Curated | 1 | |
Sequence conflicti | 594 | F → L in BAE17138 (Ref. 1) Curated | 1 | |
Sequence conflicti | 1120 | I → N in AAB09728 (PubMed:8666668).Curated | 1 | |
Sequence conflicti | 1168 | D → V in AAB09728 (PubMed:8666668).Curated | 1 | |
Sequence conflicti | 1784 | N → H in CAB06054 (PubMed:9373155).Curated | 1 | |
Sequence conflicti | 1864 | W → Y in CAB06054 (PubMed:9373155).Curated | 1 | |
Sequence conflicti | 1866 – 1867 | LR → FS in CAB06054 (PubMed:9373155).Curated | 2 | |
Sequence conflicti | 1930 | E → K in BAE46899 (Ref. 1) Curated | 1 | |
Sequence conflicti | 3095 | A → V in CAD98012 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 3665 | L → P in CAD98012 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 4258 | C → R in BAB13905 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063242 | 209 | F → I in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs771511132EnsemblClinVar. | 1 | |
Natural variantiVAR_038862 | 302 | T → P. Corresponds to variant dbSNP:rs12803695Ensembl. | 1 | |
Natural variantiVAR_038863 | 304 | Q → L. Corresponds to variant dbSNP:rs12146610EnsemblClinVar. | 1 | |
Natural variantiVAR_069591 | 330 | R → C in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs397514637EnsemblClinVar. | 1 | |
Natural variantiVAR_069592 | 338 | R → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1322077043Ensembl. | 1 | |
Natural variantiVAR_038864 | 341 | H → Y. Corresponds to variant dbSNP:rs17301182EnsemblClinVar. | 1 | |
Natural variantiVAR_069593 | 430 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs374073337EnsemblClinVar. | 1 | |
Natural variantiVAR_038865 | 456 | R → Q. Corresponds to variant dbSNP:rs17099969EnsemblClinVar. | 1 | |
Natural variantiVAR_069594 | 495 | K → R in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_063243 | 587 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853030EnsemblClinVar. | 1 | |
Natural variantiVAR_038866 | 789 | R → K. Corresponds to variant dbSNP:rs7358374Ensembl. | 1 | |
Natural variantiVAR_069595 | 871 | L → P in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_038867 | 1221 | R → K. Corresponds to variant dbSNP:rs12794914Ensembl. | 1 | |
Natural variantiVAR_069596 | 1228 | L → I in SRTD3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs189806840EnsemblClinVar. | 1 | |
Natural variantiVAR_063244 | 1240 | I → T in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853028EnsemblClinVar. | 1 | |
Natural variantiVAR_038868 | 1288 | T → A. Corresponds to variant dbSNP:rs17301750EnsemblClinVar. | 1 | |
Natural variantiVAR_069597 | 1379 | M → V in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_038869 | 1413 | K → R1 PublicationCorresponds to variant dbSNP:rs688906EnsemblClinVar. | 1 | |
Natural variantiVAR_069598 | 1423 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs745870321EnsemblClinVar. | 1 | |
Natural variantiVAR_069599 | 1442 | G → D in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs763571787Ensembl. | 1 | |
Natural variantiVAR_063245 | 1537 | Q → R in SRTD3. Corresponds to variant dbSNP:rs137853033EnsemblClinVar. | 1 | |
Natural variantiVAR_063246 | 1987 | T → A in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853035EnsemblClinVar. | 1 | |
Natural variantiVAR_069600 | 1991 | M → K in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1202784860EnsemblClinVar. | 1 | |
Natural variantiVAR_063247 | 1991 | M → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853025EnsemblClinVar. | 1 | |
Natural variantiVAR_063248 | 2205 | R → H in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853031EnsemblClinVar. | 1 | |
Natural variantiVAR_069601 | 2227 | M → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs750249486Ensembl. | 1 | |
Natural variantiVAR_069602 | 2304 | A → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs747348765EnsemblClinVar. | 1 | |
Natural variantiVAR_069603 | 2362 | N → S in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_063249 | 2461 | G → V in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs137853034EnsemblClinVar. | 1 | |
Natural variantiVAR_069604 | 2481 | R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs781326398EnsemblClinVar. | 1 | |
Natural variantiVAR_069605 | 2496 | P → S in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514636EnsemblClinVar. | 1 | |
Natural variantiVAR_069606 | 2532 | R → W in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1350329646EnsemblClinVar. | 1 | |
Natural variantiVAR_069607 | 2555 | V → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs746195428EnsemblClinVar. | 1 | |
Natural variantiVAR_069608 | 2573 | Y → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1278825521Ensembl. | 1 | |
Natural variantiVAR_069609 | 2640 | I → T in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1265669915EnsemblClinVar. | 1 | |
Natural variantiVAR_069610 | 2662 | R → Q in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs397514635EnsemblClinVar. | 1 | |
Natural variantiVAR_069611 | 2819 | I → M in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs1060501431EnsemblClinVar. | 1 | |
Natural variantiVAR_038870 | 2871 | R → Q2 PublicationsCorresponds to variant dbSNP:rs589623EnsemblClinVar. | 1 | |
Natural variantiVAR_063250 | 3015 | D → G in SRTD3. 2 PublicationsCorresponds to variant dbSNP:rs137853027EnsemblClinVar. | 1 | |
Natural variantiVAR_069612 | 3381 | P → L in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs368631447EnsemblClinVar. | 1 | |
Natural variantiVAR_038871 | 3680 | A → V1 PublicationCorresponds to variant dbSNP:rs10895391EnsemblClinVar. | 1 | |
Natural variantiVAR_063251 | 3762 | L → V in SRTD3. 1 Publication | 1 | |
Natural variantiVAR_069613 | 3806 | R → C in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs754753584Ensembl. | 1 | |
Natural variantiVAR_069614 | 3847 | W → G in SRTD3. 1 PublicationCorresponds to variant dbSNP:rs752554582Ensembl. | 1 | |
Natural variantiVAR_069615 | 3909 | G → D Probable disease-associated variant found in short rib-polydactyly syndrome 3/6; digenic inheritance; the patient also carries a mutation in NEK1. 1 PublicationCorresponds to variant dbSNP:rs201479015EnsemblClinVar. | 1 | |
Natural variantiVAR_038872 | 3976 | S → N. Corresponds to variant dbSNP:rs4754914Ensembl. | 1 | |
Natural variantiVAR_038873 | 4139 | Q → P. Corresponds to variant dbSNP:rs1793493Ensembl. | 1 | |
Natural variantiVAR_069616 | 4232 | L → R in SRTD3. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_031282 | 736 – 4122 | Missing in isoform 3. 1 PublicationAdd BLAST | 3387 | |
Alternative sequenceiVSP_031283 | 3273 | Q → QIIGLKSW in isoform 2. 1 Publication | 1 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000334267; ENSP00000334021; ENSG00000187240 [Q8NCM8-3] ENST00000375735; ENSP00000364887; ENSG00000187240 [Q8NCM8-1] ENST00000650373; ENSP00000497174; ENSG00000187240 [Q8NCM8-2] |
GeneIDi | 79659 |
KEGGi | hsa:79659 |
UCSCi | uc001phn.2, human [Q8NCM8-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar 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 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4RH7 | X-ray | 3.41 | A | 1091-4307 | [»] | |
SMRi | Q8NCM8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122785, 41 interactors |
CORUMi | Q8NCM8 |
IntActi | Q8NCM8, 28 interactors |
MINTi | Q8NCM8 |
STRINGi | 9606.ENSP00000381167 |
PTM databases
iPTMneti | Q8NCM8 |
PhosphoSitePlusi | Q8NCM8 |
Polymorphism and mutation databases
BioMutai | DYNC2H1 |
DMDMi | 311033479 |
Proteomic databases
EPDi | Q8NCM8 |
jPOSTi | Q8NCM8 |
MassIVEi | Q8NCM8 |
MaxQBi | Q8NCM8 |
PaxDbi | Q8NCM8 |
PeptideAtlasi | Q8NCM8 |
PRIDEi | Q8NCM8 |
ProteomicsDBi | 72909 [Q8NCM8-1] 72910 [Q8NCM8-2] 72911 [Q8NCM8-3] |
Protocols and materials databases
Antibodypediai | 51715, 47 antibodies |
Genome annotation databases
Ensembli | ENST00000334267; ENSP00000334021; ENSG00000187240 [Q8NCM8-3] ENST00000375735; ENSP00000364887; ENSG00000187240 [Q8NCM8-1] ENST00000650373; ENSP00000497174; ENSG00000187240 [Q8NCM8-2] |
GeneIDi | 79659 |
KEGGi | hsa:79659 |
UCSCi | uc001phn.2, human [Q8NCM8-1] |
Organism-specific databases
CTDi | 79659 |
DisGeNETi | 79659 |
EuPathDBi | HostDB:ENSG00000187240.13 |
GeneCardsi | DYNC2H1 |
HGNCi | HGNC:2962, DYNC2H1 |
HPAi | ENSG00000187240, Tissue enhanced (pituitary) |
MalaCardsi | DYNC2H1 |
MIMi | 603297, gene 613091, phenotype |
neXtProti | NX_Q8NCM8 |
OpenTargetsi | ENSG00000187240 |
Orphaneti | 474, 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 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3595, Eukaryota |
GeneTreei | ENSGT00940000154620 |
HOGENOMi | CLU_000038_7_2_1 |
InParanoidi | Q8NCM8 |
OMAi | TSWIICD |
OrthoDBi | 26380at2759 |
PhylomeDBi | Q8NCM8 |
TreeFami | TF315251 |
Enzyme and pathway databases
PathwayCommonsi | Q8NCM8 |
Reactomei | R-HSA-5610787, Hedgehog 'off' state R-HSA-5620924, Intraflagellar transport |
Miscellaneous databases
BioGRID-ORCSi | 79659, 3 hits in 845 CRISPR screens |
ChiTaRSi | DYNC2H1, human |
GeneWikii | DYNC2H1 |
GenomeRNAii | 79659 |
Pharosi | Q8NCM8, Tbio |
PROi | PR:Q8NCM8 |
RNActi | Q8NCM8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000187240, Expressed in secondary oocyte and 194 other tissues |
ExpressionAtlasi | Q8NCM8, baseline and differential |
Genevisiblei | Q8NCM8, HS |
Family and domain databases
Gene3Di | 1.10.8.710, 1 hit 1.10.8.720, 1 hit 1.20.140.100, 1 hit 3.10.490.20, 1 hit 3.20.180.20, 1 hit |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR035699, AAA_6 IPR035706, AAA_9 IPR041658, AAA_lid_11 IPR042219, AAA_lid_11_sf IPR042228, Dynein_2_C IPR042222, Dynein_2_N IPR043157, Dynein_AAA1S IPR041228, Dynein_C IPR043160, Dynein_C_barrel IPR024743, Dynein_HC_stalk IPR024317, Dynein_heavy_chain_D4_dom IPR004273, Dynein_heavy_D6_P-loop IPR013594, Dynein_heavy_dom-1 IPR013602, Dynein_heavy_dom-2 IPR027417, P-loop_NTPase |
Pfami | View protein in Pfam PF12774, AAA_6, 1 hit PF12780, AAA_8, 1 hit PF12781, AAA_9, 1 hit PF18198, AAA_lid_11, 1 hit PF08385, DHC_N1, 1 hit PF08393, DHC_N2, 1 hit PF18199, Dynein_C, 1 hit PF03028, Dynein_heavy, 1 hit PF12777, MT, 1 hit |
SMARTi | View protein in SMART SM00382, AAA, 3 hits |
SUPFAMi | SSF52540, SSF52540, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DYHC2_HUMAN | |
Accessioni | Q8NCM8Primary (citable) accession number: Q8NCM8 Secondary accession number(s): O00432 Q9HAE4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 26, 2008 |
Last sequence update: | November 2, 2010 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations