Q8NCM8 · DYHC2_HUMAN
- ProteinCytoplasmic dynein 2 heavy chain 1
- GeneDYNC2H1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids4307 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 145-152 | ATP (UniProtKB | ChEBI) | ||||
Sequence: LGIVLRRS | ||||||
Binding site | 1689-1696 | ATP (UniProtKB | ChEBI) | ||||
Sequence: GPAGTGKT | ||||||
Binding site | 1979-1986 | ATP (UniProtKB | ChEBI) | ||||
Sequence: GPSGAGKS | ||||||
Binding site | 2291-2298 | ATP (UniProtKB | ChEBI) | ||||
Sequence: GPEGCGKG | ||||||
Binding site | 2655-2662 | ATP (UniProtKB | ChEBI) | ||||
Sequence: GRSGVGRR |
GO annotations
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCytoplasmic dynein 2 heavy chain 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ8NCM8
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3)
- Note
- 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 alsoMIM:613091
Natural variants in SRTD3
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_063242 | 209 | in SRTD3; dbSNP:rs771511132 | |||
Sequence: F → I | ||||||
Natural variant | VAR_038862 | 302 | in dbSNP:rs12803695 | |||
Sequence: T → P | ||||||
Natural variant | VAR_038863 | 304 | in dbSNP:rs12146610 | |||
Sequence: Q → L | ||||||
Natural variant | VAR_069591 | 330 | in SRTD3; dbSNP:rs397514637 | |||
Sequence: R → C | ||||||
Natural variant | VAR_069592 | 338 | in SRTD3; dbSNP:rs1322077043 | |||
Sequence: R → G | ||||||
Natural variant | VAR_038864 | 341 | in dbSNP:rs17301182 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_069593 | 430 | in SRTD3; dbSNP:rs374073337 | |||
Sequence: R → C | ||||||
Natural variant | VAR_038865 | 456 | in dbSNP:rs17099969 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_069594 | 495 | in SRTD3; dbSNP:rs202233363 | |||
Sequence: K → R | ||||||
Natural variant | VAR_063243 | 587 | in SRTD3; dbSNP:rs137853030 | |||
Sequence: R → C | ||||||
Natural variant | VAR_038866 | 789 | in dbSNP:rs7358374 | |||
Sequence: R → K | ||||||
Natural variant | VAR_069595 | 871 | in SRTD3 | |||
Sequence: L → P | ||||||
Natural variant | VAR_038867 | 1221 | in dbSNP:rs12794914 | |||
Sequence: R → K | ||||||
Natural variant | VAR_069596 | 1228 | in SRTD3; uncertain significance; dbSNP:rs189806840 | |||
Sequence: L → I | ||||||
Natural variant | VAR_063244 | 1240 | in SRTD3; dbSNP:rs137853028 | |||
Sequence: I → T | ||||||
Natural variant | VAR_038868 | 1288 | in dbSNP:rs17301750 | |||
Sequence: T → A | ||||||
Natural variant | VAR_069597 | 1379 | in SRTD3 | |||
Sequence: M → V | ||||||
Natural variant | VAR_038869 | 1413 | in dbSNP:rs688906 | |||
Sequence: K → R | ||||||
Natural variant | VAR_069598 | 1423 | in SRTD3; dbSNP:rs745870321 | |||
Sequence: R → C | ||||||
Natural variant | VAR_069599 | 1442 | in SRTD3; dbSNP:rs763571787 | |||
Sequence: G → D | ||||||
Natural variant | VAR_063245 | 1537 | in SRTD3; dbSNP:rs137853033 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_063246 | 1987 | in SRTD3; dbSNP:rs137853035 | |||
Sequence: T → A | ||||||
Natural variant | VAR_069600 | 1991 | in SRTD3; dbSNP:rs1202784860 | |||
Sequence: M → K | ||||||
Natural variant | VAR_063247 | 1991 | in SRTD3; dbSNP:rs137853025 | |||
Sequence: M → L | ||||||
Natural variant | VAR_063248 | 2205 | in SRTD3; dbSNP:rs137853031 | |||
Sequence: R → H | ||||||
Natural variant | VAR_069601 | 2227 | in SRTD3; dbSNP:rs750249486 | |||
Sequence: M → V | ||||||
Natural variant | VAR_069602 | 2304 | in SRTD3; dbSNP:rs747348765 | |||
Sequence: A → T | ||||||
Natural variant | VAR_069603 | 2362 | in SRTD3; dbSNP:rs1862122773 | |||
Sequence: N → S | ||||||
Natural variant | VAR_063249 | 2461 | in SRTD3; dbSNP:rs137853034 | |||
Sequence: G → V | ||||||
Natural variant | VAR_069604 | 2481 | in SRTD3; dbSNP:rs781326398 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_069605 | 2496 | in SRTD3; dbSNP:rs397514636 | |||
Sequence: P → S | ||||||
Natural variant | VAR_069606 | 2532 | in SRTD3; dbSNP:rs1350329646 | |||
Sequence: R → W | ||||||
Natural variant | VAR_069607 | 2555 | in SRTD3; dbSNP:rs746195428 | |||
Sequence: V → M | ||||||
Natural variant | VAR_069608 | 2573 | in SRTD3; dbSNP:rs1278825521 | |||
Sequence: Y → C | ||||||
Natural variant | VAR_069609 | 2640 | in SRTD3; dbSNP:rs1265669915 | |||
Sequence: I → T | ||||||
Natural variant | VAR_069610 | 2662 | in SRTD3; dbSNP:rs397514635 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_069611 | 2819 | in SRTD3; dbSNP:rs1060501431 | |||
Sequence: I → M | ||||||
Natural variant | VAR_038870 | 2871 | in dbSNP:rs589623 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_063250 | 3015 | in SRTD3; dbSNP:rs137853027 | |||
Sequence: D → G | ||||||
Natural variant | VAR_069612 | 3381 | in SRTD3; dbSNP:rs368631447 | |||
Sequence: P → L | ||||||
Natural variant | VAR_038871 | 3680 | in dbSNP:rs10895391 | |||
Sequence: A → V | ||||||
Natural variant | VAR_063251 | 3762 | in SRTD3 | |||
Sequence: L → V | ||||||
Natural variant | VAR_069613 | 3806 | in SRTD3; dbSNP:rs754753584 | |||
Sequence: R → C | ||||||
Natural variant | VAR_069614 | 3847 | in SRTD3; dbSNP:rs752554582 | |||
Sequence: W → G | ||||||
Natural variant | VAR_069615 | 3909 | found in short rib-polydactyly syndrome 3/6; uncertain significance; digenic inheritance; the patient also carries a mutation in NEK1; dbSNP:rs201479015 | |||
Sequence: G → D | ||||||
Natural variant | VAR_038872 | 3976 | in dbSNP:rs4754914 | |||
Sequence: S → N | ||||||
Natural variant | VAR_038873 | 4139 | in dbSNP:rs1793493 | |||
Sequence: Q → P | ||||||
Natural variant | VAR_069616 | 4232 | in SRTD3; dbSNP:rs1945272232 | |||
Sequence: L → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 5,467 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000318743 | 1-4307 | Cytoplasmic dynein 2 heavy chain 1 | |||
Sequence: MANGTADVRKLFIFTTTQNYFGLMSELWDQPLLCNCLEINNFLDDGNQMLLRVQRSDAGISFSNTIEFGDTKDKVLVFFKLRPEVITDENLHDNILVSSMLESPISSLYQAVRQVFAPMLLKDQEWSRNFDPKLQNLLSELEAGLGIVLRRSDTNLTKLKFKEDDTRGILTPSDEFQFWIEQAHRGNKQISKERANYFKELFETIAREFYNLDSLSLLEVVDLVETTQDVVDDVWRQTEHDHYPESRMLHLLDIIGGSFGRFVQKKLGTLNLWEDPYYLVKESLKAGISICEQWVIVCNHLTGQVWQRYVPHPWKNEKYFPETLDKLGKRLEEVLAIRTIHEKFLYFLPASEEKIICLTRVFEPFTGLNPVQYNPYTEPLWKAAVSQYEKIIAPAEQKIAGKLKNYISEIQDSPQQLLQAFLKYKELVKRPTISKELMLERETLLARLVDSIKDFRLDFENRCRGIPGDASGPLSGKNLSEVVNSIVWVRQLELKVDDTIKIAEALLSDLPGFRCFHQSAKDLLDQLKLYEQEQFDDWSRDIQSGLSDSRSGLCIEASSRIMELDSNDGLLKVHYSDRLVILLREVRQLSALGFVIPAKIQQVANIAQKFCKQAIILKQVAHFYNSIDQQMIQSQRPMMLQSALAFEQIIKNSKAGSGGKSQITWDNPKELEGYIQKLQNAAERLATENRKLRKWHTTFCEKVVVLMNIDLLRQQQRWKDGLQELRTGLATVEAQGFQASDMHAWKQHWNHQLYKALEHQYQMGLEALNENLPEINIDLTYKQGRLQFRPPFEEIRAKYYREMKRFIGIPNQFKGVGEAGDESIFSIMIDRNASGFLTIFSKAEDLFRRLSAVLHQHKEWIVIGQVDMEALVEKHLFTVHDWEKNFKALKIKGKEVERLPSAVKVDCLNINCNPVKTVIDDLIQKLFDLLVLSLKKSIQAHLHEIDTFVTEAMEVLTIMPQSVEEIGDANLQYSKLQERKPEILPLFQEAEDKNRLLRTVAGGGLETISNLKAKWDKFELMMESHQLMIKDQIEVMKGNVKSRLQIYYQELEKFKARWDQLKPGDDVIETGQHNTLDKSAKLIKEKKIEFDDLEVTRKKLVDDCHHFRLEEPNFSLASSISKDIESCAQIWAFYEEFQQGFQEMANEDWITFRTKTYLFEEFLMNWHDRLRKVEEHSVMTVKLQSEVDKYKIVIPILKYVRGEHLSPDHWLDLFRLLGLPRGTSLEKLLFGDLLRVADTIVAKAADLKDLNSRAQGEVTIREALRELDLWGVGAVFTLIDYEDSQSRTMKLIKDWKDIVNQVGDNRCLLQSLKDSPYYKGFEDKVSIWERKLAELDEYLQNLNHIQRKWVYLEPIFGRGALPKEQTRFNRVDEDFRSIMTDIKKDNRVTTLTTHAGIRNSLLTILDQLQRCQKSLNEFLEEKRSAFPRFYFIGDDDLLEILGQSTNPSVIQSHLKKLFAGINSVCFDEKSKHITAMKSLEGEVVPFKNKVPLSNNVETWLNDLALEMKKTLEQLLKECVTTGRSSQGAVDPSLFPSQILCLAEQIKFTEDVENAIKDHSLHQIETQLVNKLEQYTNIDTSSEDPGNTESGILELKLKALILDIIHNIDVVKQLNQIQVHTTEDWAWKKQLRFYMKSDHTCCVQMVDSEFQYTYEYQGNASKLVYTPLTDKCYLTLTQAMKMGLGGNPYGPAGTGKTESVKALGGLLGRQVLVFNCDEGIDVKSMGRIFVGLVKCGAWGCFDEFNRLEESVLSAVSMQIQTIQDALKNHRTVCELLGKEVEVNSNSGIFITMNPAGKGYGGRQKLPDNLKQLFRPVAMSHPDNELIAEVILYSEGFKDAKVLSRKLVAIFNLSRELLTPQQHYDWGLRALKTVLRGSGNLLRQLNKSGTTQNANESHIVVQALRLNTMSKFTFTDCTRFDALIKDVFPGIELKEVEYDELSAALKQVFEEANYEIIPNQIKKALELYEQLCQRMGVVIVGPSGAGKSTLWRMLRAALCKTGKVVKQYTMNPKAMPRYQLLGHIDMDTREWSDGVLTNSARQVVREPQDVSSWIICDGDIDPEWIESLNSVLDDNRLLTMPSGERIQFGPNVNFVFETHDLSCASPATISRMGMIFLSDEETDLNSLIKSWLRNQPAEYRNNLENWIGDYFEKALQWVLKQNDYVVETSLVGTVMNGLSHLHGCRDHDEFIINLIRGLGGNLNMKSRLEFTKEVFHWARESPPDFHKPMDTYYDSTRGRLATYVLKKPEDLTADDFSNGLTLPVIQTPDMQRGLDYFKPWLSSDTKQPFILVGPEGCGKGMLLRYAFSQLRSTQIATVHCSAQTTSRHLLQKLSQTCMVISTNTGRVYRPKDCERLVLYLKDINLPKLDKWGTSTLVAFLQQVLTYQGFYDENLEWVGLENIQIVASMSAGGRLGRHKLTTRFTSIVRLCSIDYPEREQLQTIYGAYLEPVLHKNLKNHSIWGSSSKIYLLAGSMVQVYEQVRAKFTVDDYSHYFFTPCILTQWVLGLFRYDLEGGSSNHPLDYVLEIVAYEARRLFRDKIVGAKELHLFDIILTSVFQGDWGSDILDNMSDSFYVTWGARHNSGARAAPGQPLPPHGKPLGKLNSTDLKDVIKKGLIHYGRDNQNLDILLFHEVLEYMSRIDRVLSFPGGSLLLAGRSGVGRRTITSLVSHMHGAVLFSPKISRGYELKQFKNDLKHVLQLAGIEAQQVVLLLEDYQFVHPTFLEMINSLLSSGEVPGLYTLEELEPLLLPLKDQASQDGFFGPVFNYFTYRIQQNLHIVLIMDSANSNFMINCESNPALHKKCQVLWMEGWSNSSMKKIPEMLFSETGGGEKYNDKKRKEEKKKNSVDPDFLKSFLLIHESCKAYGATPSRYMTFLHVYSAISSSKKKELLKRQSHLQAGVSKLNEAKALVDELNRKAGEQSVLLKTKQDEADAALQMITVSMQDASEQKTELERLKHRIAEEVVKIEERKNKIDDELKEVQPLVNEAKLAVGNIKPESLSEIRSLRMPPDVIRDILEGVLRLMGIFDTSWVSMKSFLAKRGVREDIATFDARNISKEIRESVEELLFKNKGSFDPKNAKRASTAAAPLAAWVKANIQYSHVLERIHPLETEQAGLESNLKKTEDRKRKLEELLNSVGQKVSELKEKFQSRTSEAAKLEAEVSKAQETIKAAEVLINQLDREHKRWNAQVVEITEELATLPKRAQLAAAFITYLSAAPESLRKTCLEEWTKSAGLEKFDLRRFLCTESEQLIWKSEGLPSDDLSIENALVILQSRVCPFLIDPSSQATEWLKTHLKDSRLEVINQQDSNFITALELAVRFGKTLIIQEMDGVEPVLYPLLRRDLVAQGPRYVVQIGDKIIDYNEEFRLFLSTRNPNPFIPPDAASIVTEVNFTTTRSGLRGQLLALTIQHEKPDLEEQKTKLLQQEEDKKIQLAKLEESLLETLATSQGNILENKDLIESLNQTKASSALIQESLKESYKLQISLDQERDAYLPLAESASKMYFIISDLSKINNMYRFSLAAFLRLFQRALQNKQDSENTEQRIQSLISSLQHMVYEYICRCLFKADQLMFALHFVRGMHPELFQENEWDTFTGVVVGDMLRKADSQQKIRDQLPSWIDQERSWAVATLKIALPSLYQTLCFEDAALWRTYYNNSMCEQEFPSILAKKVSLFQQILVVQALRPDRLQSAMALFACKTLGLKEVSPLPLNLKRLYKETLEIEPILIIISPGADPSQELQELANAERSGECYHQVAMGQGQADLAIQMLKECARNGDWLCLKNLHLVVSWLPVLEKELNTLQPKDTFRLWLTAEVHPNFTPILLQSSLKITYESPPGLKKNLMRTYESWTPEQISKKDNTHRAHALFSLAWFHAACQERRNYIPQGWTKFYEFSLSDLRAGYNIIDRLFDGAKDVQWEFVHGLLENAIYGGRIDNYFDLRVLQSYLKQFFNSSVIDVFNQRNKKSIFPYSVSLPQSCSILDYRAVIEKIPEDDKPSFFGLPANIARSSQRMISSQVISQLRILGRSITAGSKFDREIWSNELSPVLNLWKKLNQNSNLIHQKVPPPNDRQGSPILSFIILEQFNAIRLVQSVHQSLAALSKVIRGTTLLSSEVQKLASALLNQKCPLAWQSKWEGPEDPLQYLRGLVARALAIQNWVDKAEKQALLSETLDLSELFHPDTFLNALRQETARAVGRSVDSLKFVASWKGRLQEAKLQIKISGLLLEGCSFDGNQLSENQLDSPSVSSVLPCFMGWIPQDACGPYSPDECISLPVYTSAERDRVVTNIDVPCGGNQDQWIQCGAALFLKNQ |
Proteomic databases
PTM databases
Expression
Structure
Family & Domains
Features
Showing features for region, coiled coil.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-1650 | Stem | ||||
Sequence: MANGTADVRKLFIFTTTQNYFGLMSELWDQPLLCNCLEINNFLDDGNQMLLRVQRSDAGISFSNTIEFGDTKDKVLVFFKLRPEVITDENLHDNILVSSMLESPISSLYQAVRQVFAPMLLKDQEWSRNFDPKLQNLLSELEAGLGIVLRRSDTNLTKLKFKEDDTRGILTPSDEFQFWIEQAHRGNKQISKERANYFKELFETIAREFYNLDSLSLLEVVDLVETTQDVVDDVWRQTEHDHYPESRMLHLLDIIGGSFGRFVQKKLGTLNLWEDPYYLVKESLKAGISICEQWVIVCNHLTGQVWQRYVPHPWKNEKYFPETLDKLGKRLEEVLAIRTIHEKFLYFLPASEEKIICLTRVFEPFTGLNPVQYNPYTEPLWKAAVSQYEKIIAPAEQKIAGKLKNYISEIQDSPQQLLQAFLKYKELVKRPTISKELMLERETLLARLVDSIKDFRLDFENRCRGIPGDASGPLSGKNLSEVVNSIVWVRQLELKVDDTIKIAEALLSDLPGFRCFHQSAKDLLDQLKLYEQEQFDDWSRDIQSGLSDSRSGLCIEASSRIMELDSNDGLLKVHYSDRLVILLREVRQLSALGFVIPAKIQQVANIAQKFCKQAIILKQVAHFYNSIDQQMIQSQRPMMLQSALAFEQIIKNSKAGSGGKSQITWDNPKELEGYIQKLQNAAERLATENRKLRKWHTTFCEKVVVLMNIDLLRQQQRWKDGLQELRTGLATVEAQGFQASDMHAWKQHWNHQLYKALEHQYQMGLEALNENLPEINIDLTYKQGRLQFRPPFEEIRAKYYREMKRFIGIPNQFKGVGEAGDESIFSIMIDRNASGFLTIFSKAEDLFRRLSAVLHQHKEWIVIGQVDMEALVEKHLFTVHDWEKNFKALKIKGKEVERLPSAVKVDCLNINCNPVKTVIDDLIQKLFDLLVLSLKKSIQAHLHEIDTFVTEAMEVLTIMPQSVEEIGDANLQYSKLQERKPEILPLFQEAEDKNRLLRTVAGGGLETISNLKAKWDKFELMMESHQLMIKDQIEVMKGNVKSRLQIYYQELEKFKARWDQLKPGDDVIETGQHNTLDKSAKLIKEKKIEFDDLEVTRKKLVDDCHHFRLEEPNFSLASSISKDIESCAQIWAFYEEFQQGFQEMANEDWITFRTKTYLFEEFLMNWHDRLRKVEEHSVMTVKLQSEVDKYKIVIPILKYVRGEHLSPDHWLDLFRLLGLPRGTSLEKLLFGDLLRVADTIVAKAADLKDLNSRAQGEVTIREALRELDLWGVGAVFTLIDYEDSQSRTMKLIKDWKDIVNQVGDNRCLLQSLKDSPYYKGFEDKVSIWERKLAELDEYLQNLNHIQRKWVYLEPIFGRGALPKEQTRFNRVDEDFRSIMTDIKKDNRVTTLTTHAGIRNSLLTILDQLQRCQKSLNEFLEEKRSAFPRFYFIGDDDLLEILGQSTNPSVIQSHLKKLFAGINSVCFDEKSKHITAMKSLEGEVVPFKNKVPLSNNVETWLNDLALEMKKTLEQLLKECVTTGRSSQGAVDPSLFPSQILCLAEQIKFTEDVENAIKDHSLHQIETQLVNKLEQYTNIDTSSEDPGNTESGILELKLKALILDIIHNIDVVKQLNQIQVHTTEDWAWKKQLRFYMKSDHTCCVQMVDSEFQ | ||||||
Coiled coil | 1074-1103 | |||||
Sequence: NTLDKSAKLIKEKKIEFDDLEVTRKKLVDD | ||||||
Region | 1651-1875 | AAA 1 | ||||
Sequence: YTYEYQGNASKLVYTPLTDKCYLTLTQAMKMGLGGNPYGPAGTGKTESVKALGGLLGRQVLVFNCDEGIDVKSMGRIFVGLVKCGAWGCFDEFNRLEESVLSAVSMQIQTIQDALKNHRTVCELLGKEVEVNSNSGIFITMNPAGKGYGGRQKLPDNLKQLFRPVAMSHPDNELIAEVILYSEGFKDAKVLSRKLVAIFNLSRELLTPQQHYDWGLRALKTVLRG | ||||||
Region | 1938-2161 | AAA 2 | ||||
Sequence: ELSAALKQVFEEANYEIIPNQIKKALELYEQLCQRMGVVIVGPSGAGKSTLWRMLRAALCKTGKVVKQYTMNPKAMPRYQLLGHIDMDTREWSDGVLTNSARQVVREPQDVSSWIICDGDIDPEWIESLNSVLDDNRLLTMPSGERIQFGPNVNFVFETHDLSCASPATISRMGMIFLSDEETDLNSLIKSWLRNQPAEYRNNLENWIGDYFEKALQWVLKQND | ||||||
Region | 2251-2505 | AAA 3 | ||||
Sequence: ADDFSNGLTLPVIQTPDMQRGLDYFKPWLSSDTKQPFILVGPEGCGKGMLLRYAFSQLRSTQIATVHCSAQTTSRHLLQKLSQTCMVISTNTGRVYRPKDCERLVLYLKDINLPKLDKWGTSTLVAFLQQVLTYQGFYDENLEWVGLENIQIVASMSAGGRLGRHKLTTRFTSIVRLCSIDYPEREQLQTIYGAYLEPVLHKNLKNHSIWGSSSKIYLLAGSMVQVYEQVRAKFTVDDYSHYFFTPCILTQWVLG | ||||||
Region | 2617-2863 | AAA 4 | ||||
Sequence: HYGRDNQNLDILLFHEVLEYMSRIDRVLSFPGGSLLLAGRSGVGRRTITSLVSHMHGAVLFSPKISRGYELKQFKNDLKHVLQLAGIEAQQVVLLLEDYQFVHPTFLEMINSLLSSGEVPGLYTLEELEPLLLPLKDQASQDGFFGPVFNYFTYRIQQNLHIVLIMDSANSNFMINCESNPALHKKCQVLWMEGWSNSSMKKIPEMLFSETGGGEKYNDKKRKEEKKKNSVDPDFLKSFLLIHESCK | ||||||
Region | 2881-3169 | Stalk | ||||
Sequence: AISSSKKKELLKRQSHLQAGVSKLNEAKALVDELNRKAGEQSVLLKTKQDEADAALQMITVSMQDASEQKTELERLKHRIAEEVVKIEERKNKIDDELKEVQPLVNEAKLAVGNIKPESLSEIRSLRMPPDVIRDILEGVLRLMGIFDTSWVSMKSFLAKRGVREDIATFDARNISKEIRESVEELLFKNKGSFDPKNAKRASTAAAPLAAWVKANIQYSHVLERIHPLETEQAGLESNLKKTEDRKRKLEELLNSVGQKVSELKEKFQSRTSEAAKLEAEVSKAQETI | ||||||
Coiled coil | 2897-2982 | |||||
Sequence: LQAGVSKLNEAKALVDELNRKAGEQSVLLKTKQDEADAALQMITVSMQDASEQKTELERLKHRIAEEVVKIEERKNKIDDELKEVQ | ||||||
Coiled coil | 3109-3200 | |||||
Sequence: LETEQAGLESNLKKTEDRKRKLEELLNSVGQKVSELKEKFQSRTSEAAKLEAEVSKAQETIKAAEVLINQLDREHKRWNAQVVEITEELATL | ||||||
Region | 3244-3473 | AAA 5 | ||||
Sequence: LCTESEQLIWKSEGLPSDDLSIENALVILQSRVCPFLIDPSSQATEWLKTHLKDSRLEVINQQDSNFITALELAVRFGKTLIIQEMDGVEPVLYPLLRRDLVAQGPRYVVQIGDKIIDYNEEFRLFLSTRNPNPFIPPDAASIVTEVNFTTTRSGLRGQLLALTIQHEKPDLEEQKTKLLQQEEDKKIQLAKLEESLLETLATSQGNILENKDLIESLNQTKASSALIQE | ||||||
Coiled coil | 3408-3442 | |||||
Sequence: IQHEKPDLEEQKTKLLQQEEDKKIQLAKLEESLLE | ||||||
Region | 3690-3905 | AAA 6 | ||||
Sequence: MALFACKTLGLKEVSPLPLNLKRLYKETLEIEPILIIISPGADPSQELQELANAERSGECYHQVAMGQGQADLAIQMLKECARNGDWLCLKNLHLVVSWLPVLEKELNTLQPKDTFRLWLTAEVHPNFTPILLQSSLKITYESPPGLKKNLMRTYESWTPEQISKKDNTHRAHALFSLAWFHAACQERRNYIPQGWTKFYEFSLSDLRAGYNIIDR |
Sequence similarities
Belongs to the dynein heavy chain family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q8NCM8-1
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.
- Name1
- Length4,307
- Mass (Da)492,622
- Last updated2010-11-02 v4
- Checksum54B60DEE419B7E9D
Q8NCM8-2
- Name2
- Differences from canonical
- 3273-3273: Q → QIIGLKSW
Q8NCM8-3
- Name3
- Differences from canonical
- 736-4122: Missing
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YEX1 | H0YEX1_HUMAN | DYNC2H1 | 224 | ||
H0YDE0 | H0YDE0_HUMAN | DYNC2H1 | 378 | ||
A0A3B3ISP9 | A0A3B3ISP9_HUMAN | DYNC2H1 | 1255 | ||
A0A3B3IT36 | A0A3B3IT36_HUMAN | DYNC2H1 | 751 |
Sequence caution
Features
Showing features for sequence conflict, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 174 | in Ref. 1; BAE17138 | ||||
Sequence: D → G | ||||||
Sequence conflict | 178 | in Ref. 1; BAE17138 | ||||
Sequence: F → L | ||||||
Sequence conflict | 594 | in Ref. 1; BAE17138 | ||||
Sequence: F → L | ||||||
Alternative sequence | VSP_031282 | 736-4122 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 1120 | in Ref. 4; AAB09728 | ||||
Sequence: I → N | ||||||
Sequence conflict | 1168 | in Ref. 4; AAB09728 | ||||
Sequence: D → V | ||||||
Sequence conflict | 1784 | in Ref. 6; CAB06054 | ||||
Sequence: N → H | ||||||
Sequence conflict | 1864 | in Ref. 6; CAB06054 | ||||
Sequence: W → Y | ||||||
Sequence conflict | 1866-1867 | in Ref. 6; CAB06054 | ||||
Sequence: LR → FS | ||||||
Sequence conflict | 1930 | in Ref. 1; BAE46899 | ||||
Sequence: E → K | ||||||
Sequence conflict | 3095 | in Ref. 7; CAD98012 | ||||
Sequence: A → V | ||||||
Alternative sequence | VSP_031283 | 3273 | in isoform 2 | |||
Sequence: Q → QIIGLKSW | ||||||
Sequence conflict | 3665 | in Ref. 7; CAD98012 | ||||
Sequence: L → P | ||||||
Sequence conflict | 4258 | in Ref. 3; BAB13905 | ||||
Sequence: C → R |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB231765 EMBL· GenBank· DDBJ | BAE46899.1 EMBL· GenBank· DDBJ | mRNA | ||
AB231766 EMBL· GenBank· DDBJ | BAE17138.1 EMBL· GenBank· DDBJ | mRNA | ||
AP000817 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP001486 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP002829 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP002961 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP003382 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP003461 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AK021818 EMBL· GenBank· DDBJ | BAB13905.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK095579 EMBL· GenBank· DDBJ | BAC04578.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK125524 EMBL· GenBank· DDBJ | BAC86194.1 EMBL· GenBank· DDBJ | mRNA | ||
AK131453 EMBL· GenBank· DDBJ | BAD18598.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
U53531 EMBL· GenBank· DDBJ | AAB09728.1 EMBL· GenBank· DDBJ | mRNA | ||
U20552 EMBL· GenBank· DDBJ | AAB50020.1 EMBL· GenBank· DDBJ | mRNA | ||
Z83800 EMBL· GenBank· DDBJ | CAB06054.1 EMBL· GenBank· DDBJ | mRNA | ||
BX538093 EMBL· GenBank· DDBJ | CAD98012.1 EMBL· GenBank· DDBJ | mRNA | ||
AB082528 EMBL· GenBank· DDBJ | BAC02706.2 EMBL· GenBank· DDBJ | mRNA |