UniProtKB - Q96JB1 (DYH8_HUMAN)
Dynein axonemal heavy chain 8
DNAH8
Functioni
Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly.
1 PublicationRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 1846 – 1853 | ATPSequence analysis | 8 | |
Nucleotide bindingi | 2128 – 2135 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
- microtubule motor activity Source: UniProtKB
- minus-end-directed microtubule motor activity Source: GO_Central
GO - Biological processi
- cilium-dependent cell motility Source: UniProtKB
- microtubule-based movement Source: GO_Central
- outer dynein arm assembly Source: GO_Central
Keywordsi
Molecular function | Motor protein |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q96JB1 |
SignaLinki | Q96JB1 |
Names & Taxonomyi
Protein namesi | Recommended name: Dynein axonemal heavy chain 8CuratedAlternative name(s): Axonemal beta dynein heavy chain 8 Ciliary dynein heavy chain 8 |
Gene namesi | Name:DNAH8Imported |
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
HGNCi | HGNC:2952, DNAH8 |
MIMi | 603337, gene |
neXtProti | NX_Q96JB1 |
VEuPathDBi | HostDB:ENSG00000124721 |
Subcellular locationi
Cytoskeleton
- flagellum axoneme 2 Publications
Cytoplasm and Cytosol
- Cytoplasm By similarity
Note: Detected in sperm tail, with almost exclusive localization to the principal piece. Also detected in the cytoplasm of primary spermatocytes.By similarity
Cytoskeleton
- axonemal dynein complex Source: UniProtKB
- axoneme Source: UniProtKB
- dynein complex Source: GO_Central
- microtubule Source: UniProtKB-KW
- outer dynein arm Source: GO_Central
Other locations
- sperm flagellum Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Flagellum, MicrotubulePathology & Biotechi
Involvement in diseasei
Spermatogenic failure 46 (SPGF46)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085188 | 2013 | K → R in SPGF46; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1563044711Ensembl. | 1 | |
Natural variantiVAR_085189 | 2926 | R → C in SPGF46; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs151313083Ensembl. | 1 | |
Natural variantiVAR_085191 | 4024 | A → T in SPGF46; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs369473998Ensembl. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 1769 |
GeneReviewsi | DNAH8 |
MalaCardsi | DNAH8 |
MIMi | 619095, phenotype |
OpenTargetsi | ENSG00000124721 |
PharmGKBi | PA27405 |
Miscellaneous databases
Pharosi | Q96JB1, Tbio |
Genetic variation databases
BioMutai | DNAH8 |
DMDMi | 124007137 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000274044 | 1 – 4490 | Dynein axonemal heavy chain 8Add BLAST | 4490 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 674 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96JB1 |
MassIVEi | Q96JB1 |
MaxQBi | Q96JB1 |
PaxDbi | Q96JB1 |
PeptideAtlasi | Q96JB1 |
PRIDEi | Q96JB1 |
ProteomicsDBi | 76924 [Q96JB1-1] 76925 [Q96JB1-2] |
PTM databases
CarbonylDBi | Q96JB1 |
GlyGeni | Q96JB1, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q96JB1 |
PhosphoSitePlusi | Q96JB1 |
Expressioni
Tissue specificityi
Developmental stagei
Gene expression databases
Bgeei | ENSG00000124721, Expressed in testis and 53 other tissues |
ExpressionAtlasi | Q96JB1, baseline and differential |
Genevisiblei | Q96JB1, HS |
Organism-specific databases
HPAi | ENSG00000124721, Tissue enhanced (epididymis, prostate, testis) |
Interactioni
Subunit structurei
Consists of at least two heavy chains and a number of intermediate and light chains.
GO - Molecular functioni
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 108108, 10 interactors |
IntActi | Q96JB1, 3 interactors |
STRINGi | 9606.ENSP00000333363 |
Miscellaneous databases
RNActi | Q96JB1, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1808 – 2030 | AAA 1By similarityAdd BLAST | 223 | |
Regioni | 2090 – 2309 | AAA 2By similarityAdd BLAST | 220 | |
Regioni | 2416 – 2669 | AAA 3By similarityAdd BLAST | 254 | |
Regioni | 2780 – 3034 | AAA 4By similarityAdd BLAST | 255 | |
Regioni | 3049 – 3346 | StalkBy similarityAdd BLAST | 298 | |
Regioni | 3432 – 3662 | AAA 5By similarityAdd BLAST | 231 | |
Regioni | 3877 – 4091 | AAA 6By similarityAdd BLAST | 215 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 3072 – 3164 | Sequence analysisAdd BLAST | 93 | |
Coiled coili | 3290 – 3354 | Sequence analysisAdd BLAST | 65 | |
Coiled coili | 3594 – 3630 | Sequence analysisAdd BLAST | 37 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG3595, Eukaryota |
GeneTreei | ENSGT00940000158992 |
HOGENOMi | CLU_000038_9_1_1 |
InParanoidi | Q96JB1 |
OrthoDBi | 6295at2759 |
PhylomeDBi | Q96JB1 |
TreeFami | TF316836 |
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 3.40.50.300, 5 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR035699, AAA_6 IPR035706, AAA_9 IPR041658, AAA_lid_11 IPR042219, AAA_lid_11_sf IPR026983, DHC_fam IPR041589, DNAH3_AAA_lid_1 IPR042222, Dynein_2_N IPR043157, Dynein_AAA1S IPR041466, Dynein_AAA5_ext IPR041228, Dynein_C IPR043160, Dynein_C_barrel IPR024743, Dynein_HC_stalk IPR024317, Dynein_heavy_chain_D4_dom IPR004273, Dynein_heavy_D6_P-loop IPR013602, Dynein_heavy_linker IPR013594, Dynein_heavy_tail IPR042228, Dynein_linker_3 IPR027417, P-loop_NTPase |
PANTHERi | PTHR10676, PTHR10676, 1 hit |
Pfami | View protein in Pfam PF12774, AAA_6, 1 hit PF12780, AAA_8, 1 hit PF12781, AAA_9, 1 hit PF17857, AAA_lid_1, 1 hit PF18198, AAA_lid_11, 1 hit PF08385, DHC_N1, 1 hit PF08393, DHC_N2, 1 hit PF17852, Dynein_AAA_lid, 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 (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
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
MMKLYIDNAA PDKLKGLCIF FVRCRNDVAI NVKTIQEEAL FTVLDASKGL
60 70 80 90 100
LNGIRDMLAN IFLPAVLATN NWGALNQSKQ GESEKHIFTE TINRYLSFLD
110 120 130 140 150
GARISIEGTV KLKTIDNVNF SKLHTFEEVT AAASNSETVH QLEEVLMVWY
160 170 180 190 200
KQIEQVLIES EQMRKEAGDS GPLTELEHWK RMSAKFNYII EQIKGPSCKA
210 220 230 240 250
VINVLNVAHS KLLKNWRDLD ARITDTANES KDNVRYLYTL EKVCQPLYNH
260 270 280 290 300
DLVSMAHGIQ NLINAIRMIH GVSRYYNTSE RMTSLFIKVT NQMVTACKAY
310 320 330 340 350
ITDGGLNHVW DQETPVVLKK IQDCIFLFKE YQASFHKTRK LISESSGEKS
360 370 380 390 400
FEVSEMYIFG KFEAFCKRLE KITEMITVVQ TYSTLSNSTI EGIDIMAIKF
410 420 430 440 450
RNIYQGVKKK QYDILDPRRT EFDTDFLDFM TKINGLEVQI QAFMNSSFGK
460 470 480 490 500
ILSSQQALQL LQRFQKLNIP CLGLEINHTI ERILQYYVAE LDATKKLYHS
510 520 530 540 550
QKDDPPLARN MPPIAGKILW VRQLYRRISE PINYFFKNSD ILSSPDGKAV
560 570 580 590 600
IRQYNKISYV LVEFEVVYHT AWIREISQLH YALQATLFVR HPETGKLLVN
610 620 630 640 650
FDPKILEVVR ETKCMIKMKL DVPEQAKRLL KLESKLKADK LYLQGLLQYY
660 670 680 690 700
DELCQEVPSV FVNLMTPKMK KVESVLRQGL TVLTWSSLTL ESFFQEVELV
710 720 730 740 750
LDMFNQLLKK ISDLCEMHID TVLKEIAKTV LISLPESGAT KVEDMLTLNE
760 770 780 790 800
TYTKEWADIL NHKSKHVEEA VRELISIFEQ IYEVKYTGKV GKQSEQRKHV
810 820 830 840 850
VFGSETGEGE NNDYEANIVN EFDTHDKEDE FKKECKEVFA FFSHQLLDSL
860 870 880 890 900
QKATRLSLDT MKRRIFVASL YGRKQSEDII SFIKSEVHLA IPNVVMIPSL
910 920 930 940 950
DDIQQAINRM IQLTLEVSRG VAHWGQQQIR PIKSVIPSPT TTDVTHQNTG
960 970 980 990 1000
KLLKKEERSF EEAIPARKLK NFYPGVAEHK DISKLVLLLS SSVNSLRKAA
1010 1020 1030 1040 1050
HEALQDFQKY KTLWTEDRDV KVKEFLANNP SLTEIRSEIL HYATFEQEID
1060 1070 1080 1090 1100
ELKPIIVVGA LELHTEPMKL ALSIEAKAWK MLLCRYLNEE YKKKMSYMIA
1110 1120 1130 1140 1150
FINEYLKKLS RPIRDLDDVR FAMEALSCIR DNEIQMDMTL GPIEEAYAIL
1160 1170 1180 1190 1200
NRFEVEVTKE ESEAVDTLRY SFNKLQSKAV SVQEDLVQVQ PKFKSNLLES
1210 1220 1230 1240 1250
VEVFREDVIN FAEAYELEGP MVPNIPPQEA SNRLQIFQAS FDDLWRKFVT
1260 1270 1280 1290 1300
YSSGEQLFGL PVTDYEVLHK TRKELNLLQK LYGLYDTVMS SISGYYEILW
1310 1320 1330 1340 1350
GDVDIEKINA ELLEFQNRCR KLPKGLKDWQ AFLDLKKRID DFSESCPLLE
1360 1370 1380 1390 1400
MMTNKAMKQR HWDRISELTG TPFDVESDSF CLRNIMEAPL LKHKDDIEDI
1410 1420 1430 1440 1450
CISAIKEKDI EAKLTQVIEN WTNQNLSFAA FKGKGELLLK GTESGEIITL
1460 1470 1480 1490 1500
MEDSLMVLGS LLSNRYNAPF KKNIQNWVYK LSTSSDIIEE WLVVQNLWVY
1510 1520 1530 1540 1550
LEAVFVGGDI AKQLPQEAKR FQNIDKSWIK IMQRAHENPN VINCCVGDET
1560 1570 1580 1590 1600
MGQLLPHLHE QLEVCQKSLT GYLEKKRLLF PRFFFVSDPV LLEILGQASD
1610 1620 1630 1640 1650
SHTIQPHLPA VSDNINEVTF HAKDYDRIMA VISREGEKIV LDNSVMAKGP
1660 1670 1680 1690 1700
VEIWLLDLLK MQMSSLHNII RSAFYQISDS GFQLLPFLSH FPAQVGLLGI
1710 1720 1730 1740 1750
QMLWTHDSEE ALRNAKDDRK IMQVTNQKFL DILNTLISQT THDLSKFDRV
1760 1770 1780 1790 1800
KFETLITIHV HQRDIFDDLV KMHIKSPTDF EWLKQSRFYF KEDLDQTVVS
1810 1820 1830 1840 1850
ITDVDFIYQN EFLGCTDRLV ITPLTDRCYI TLAQALGMNM GGAPAGPAGT
1860 1870 1880 1890 1900
GKTETTKDMG RCLGKYVVVF NCSDQMDFRG LGRIFKGLAQ SGSWGCFDEF
1910 1920 1930 1940 1950
NRIELPVLSV AAQQIYIVLT ARKERKKQFI FSDGDCVDLN PEFGIFLTMN
1960 1970 1980 1990 2000
PGYAGRQELP ENLKIQFRTV AMMVPDRQII MRVKLASCGF LENVILAQKF
2010 2020 2030 2040 2050
YVLYKLCEEQ LTKQVHYDFG LRNILSVLRT LGSQKRARPE DSELSIVMRG
2060 2070 2080 2090 2100
LRDMNLSKLV DEDEPLFLSL INDLFPGLQL DSNTYAELQN AVAHQVQIEG
2110 2120 2130 2140 2150
LINHPPWNLK LVQLYETSLV RHGLMTLGPS GSGKTTVITI LMKAQTECGR
2160 2170 2180 2190 2200
PHREMRMNPK AITAPQMFGR LDTATNDWTD GIFSTLWRKT LKAKKGENIF
2210 2220 2230 2240 2250
LILDGPVDAI WIENLNSVLD DNKTLTLANG DRIPMAPSCK LLFEVHNIEN
2260 2270 2280 2290 2300
ASPATVSRMG MVYISSSALS WRPILQAWLK KRTAQEAAVF LTLYEKVFED
2310 2320 2330 2340 2350
TYTYMKLNLN PKMQLLECNY IVQSLNLLEG LIPSKEEGGV SCVEHLHKLF
2360 2370 2380 2390 2400
VFGLMWSLGA LLELESREKL EAFLRQHESK LDLPEIPKGS NQTMYEFYVT
2410 2420 2430 2440 2450
DYGDWEHWNK KLQPYYYPTD SIPEYSSILV PNVDNIRTNF LIDTIAKQHK
2460 2470 2480 2490 2500
AVLLTGEQGT AKTVMVKAYL KKYDPEVQLS KSLNFSSATE PMMFQRTIES
2510 2520 2530 2540 2550
YVDKRIGSTY GPPGGRKMTV FIDDINMPVI NEWGDQITNE IVRQMMEMEG
2560 2570 2580 2590 2600
MYSLDKPGDF TTIVDVQLIA AMIHPGGGRN DIPQRLKRQF TVFNCTLPSN
2610 2620 2630 2640 2650
ASIDKIFGII GCGYFDPCRS FKPQICEMIV NLVSVGRVLW QWTKVKMLPT
2660 2670 2680 2690 2700
PSKFHYIFNL RDLSRIWQGM LTIKAEECAS IPTLLSLFKH ECSRVIADRF
2710 2720 2730 2740 2750
ITPEDEQWFN AHLTRAVEEN IGSDAASCIL PEPYFVDFLR EMPEPTGDEP
2760 2770 2780 2790 2800
EDSVFEVPKI YELMPSFDFL AEKLQFYQRQ FNEIIRGTSL DLVFFKDAMT
2810 2820 2830 2840 2850
HLIKISRIIR TSCGNALLVG VGGSGKQSLS RLASFIAGYQ IFQITLTRSY
2860 2870 2880 2890 2900
NVTNLTDDLK ALYKVAGADG KGITFIFTDS EIKDEAFLEY LNNLLSSGEI
2910 2920 2930 2940 2950
SNLFARDEMD EITQGLISVM KRELPRHPPT FDNLYEYFIS RSRKNLHVVL
2960 2970 2980 2990 3000
CFSPVGEKFR ARSLKFPGLI SGCTMDWFSR WPREALIAVA SYFLSDYNIV
3010 3020 3030 3040 3050
CSSEIKRQVV ETMGLFHDMV SESCESYFQR YRRRAHVTPK SYLSFINGYK
3060 3070 3080 3090 3100
NIYAEKVKFI NEQAERMNIG LDKLMEASES VAKLSQDLAV KEKELAVASI
3110 3120 3130 3140 3150
KADEVLAEVT VSAQASAKIK NEVQEVKDKA QKIVDEIDSE KVKAESKLEA
3160 3170 3180 3190 3200
AKPALEEAEA ALNTIKPNDI ATVRKLAKPP HLIMRIMDCV LLLFQKKIDP
3210 3220 3230 3240 3250
VTMDPEKSCC KPSWGESLKL MSATGFLWSL QQFPKDTINE ETVELLQPYF
3260 3270 3280 3290 3300
NMDDYTFESA KKVCGNVAGL LSWTLAMAIF YGINREVLPL KANLAKQEGR
3310 3320 3330 3340 3350
LAVANAELGK AQALLDEKQA ELDKVQAKFD AAMNEKMDLL NDADTCRKKM
3360 3370 3380 3390 3400
QAASTLIDGL SGEKIRWTQQ SKEFKAQINR LVGDILLCTG FLSYLGPFNQ
3410 3420 3430 3440 3450
IFRNYLLKDQ WEMELRARKI PFTENLNLIS MLVDPPTIGE WGLQGLPGDD
3460 3470 3480 3490 3500
LSIQNGIIVT KATRYPLLID PQTQGKTWIK SKEKENDLQV TSLNHKYFRT
3510 3520 3530 3540 3550
HLEDSLSLGR PLLIEDIHEE LDPALDNVLE KNFIKSGTTF KVKVGDKECD
3560 3570 3580 3590 3600
IMDTFKLYIT TKLPNPAFTP EINAKTSVID FTVTMKGLEN QLLRRVILTE
3610 3620 3630 3640 3650
KQELEAERVK LLEDVTFNKR KMKELEDNLL YKLSATKGSL VDDESLIGVL
3660 3670 3680 3690 3700
RTTKQTAAEV SEKLHVAAET EIKINAAQEE FRPAATRGSI LYFLITEMSM
3710 3720 3730 3740 3750
VNIMYQTSLA QFLKLFDQSM ARSEKSPLPQ KRITNIIEYL TYEVFTYSVR
3760 3770 3780 3790 3800
GLYENHKFLF VLLMTLKIDL QRGTVKHREF QALIKGGAAL DLKACPPKPY
3810 3820 3830 3840 3850
RWILDMTWLN LVELSKLPQF AEIMNQISRN EKGWKSWFDK DAPEEEIIPD
3860 3870 3880 3890 3900
GYNDSLDTCH KLLLIRSWCP DRTVFQARKY IADSLEEKYT EPVILNLEKT
3910 3920 3930 3940 3950
WEESDTRTPL ICFLSMGSDP TNQIDALAKK LKLECRTISM GQGQEVHARK
3960 3970 3980 3990 4000
LIQMSMQQGG WVLLQNCHLG LEFMEELLET LITTEASDDS FRVWITTEPH
4010 4020 4030 4040 4050
DRFPITLLQT SLKFTNEPPQ GVRAGLKRTF AGINQDLLDI SNLPMWKPML
4060 4070 4080 4090 4100
YTVAFLHSTV QERRKFGPLG WNIPYEFNSA DFSASVQFIQ NHLDECDIKK
4110 4120 4130 4140 4150
GVSWNTVRYM IGEVQYGGRV TDDFDKRLLN CFARVWFSEK MFEPSFCFYT
4160 4170 4180 4190 4200
GYKIPLCKTL DQYFEYIQSL PSLDNPEVFG LHPNADITYQ SNTASAVLET
4210 4220 4230 4240 4250
ITNIQPKESG GGVGETREAI VYRLSEDMLS KLPPDYIPHE VKSRLIKMGH
4260 4270 4280 4290 4300
LNSMNIFLRQ EIDRMQRVIS ILRSSLSDLK LAIEGTIIMS ENLRDALDNM
4310 4320 4330 4340 4350
YDARIPQLWK RVSWDSSTLG FWFTELLERN AQFSTWIFEG RPNVFWMTGF
4360 4370 4380 4390 4400
FNPQGFLTAM RQEVTRAHKG WALDTVTIHN EVLRQTKEEI TSPPGEGVYI
4410 4420 4430 4440 4450
YGLYMDGAAW DRRNGKLMES TPKVLFTQLP VLHIFAINST APKDPKLYVC
4460 4470 4480 4490
PIYKKPRRTD LTFITVVYLR TVLSPDHWIL RGVALLCDIK
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B6F3 | A0A075B6F3_HUMAN | Dynein axonemal heavy chain 8 | DNAH8 | 4,707 | Annotation score: | ||
H0Y7V4 | H0Y7V4_HUMAN | Dynein axonemal heavy chain 8 | DNAH8 | 4,188 | Annotation score: | ||
H3BLZ4 | H3BLZ4_HUMAN | Dynein axonemal heavy chain 8 | DNAH8 | 135 | Annotation score: | ||
Q8IU65 | Q8IU65_HUMAN | Axonemal dynein heavy chain 8 isofo... | DNAH8 | 217 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1622 | A → T in AAK60620 (PubMed:12297094).Curated | 1 | |
Sequence conflicti | 1945 – 1947 | IFL → VFI in CAB06060 (PubMed:9373155).Curated | 3 | |
Sequence conflicti | 3495 | H → R in AAK60620 (PubMed:12297094).Curated | 1 | |
Sequence conflicti | 4118 | G → D in AAK60620 (PubMed:12297094).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030171 | 71 | N → S. Corresponds to variant dbSNP:rs6935293Ensembl. | 1 | |
Natural variantiVAR_030172 | 473 | G → R. Corresponds to variant dbSNP:rs1738254Ensembl. | 1 | |
Natural variantiVAR_030173 | 573 | I → V1 PublicationCorresponds to variant dbSNP:rs3823430Ensembl. | 1 | |
Natural variantiVAR_085187 | 590 – 4490 | Missing Found in a patient with primary ciliary dyskinesia; unknown pathological significance. 1 PublicationAdd BLAST | 3901 | |
Natural variantiVAR_030174 | 727 | A → T. Corresponds to variant dbSNP:rs1678674Ensembl. | 1 | |
Natural variantiVAR_030175 | 807 | G → E1 PublicationCorresponds to variant dbSNP:rs874808Ensembl. | 1 | |
Natural variantiVAR_030176 | 1202 | E → K1 PublicationCorresponds to variant dbSNP:rs9357283Ensembl. | 1 | |
Natural variantiVAR_085188 | 2013 | K → R in SPGF46; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1563044711Ensembl. | 1 | |
Natural variantiVAR_036213 | 2226 | T → M in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_030177 | 2444 | T → N. Corresponds to variant dbSNP:rs862432Ensembl. | 1 | |
Natural variantiVAR_085189 | 2926 | R → C in SPGF46; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs151313083Ensembl. | 1 | |
Natural variantiVAR_085190 | 3707 | T → M1 PublicationCorresponds to variant dbSNP:rs61757218Ensembl. | 1 | |
Natural variantiVAR_085191 | 4024 | A → T in SPGF46; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs369473998Ensembl. | 1 | |
Natural variantiVAR_030178 | 4106 | T → M. Corresponds to variant dbSNP:rs1537232Ensembl. | 1 | |
Natural variantiVAR_030179 | 4271 | I → V1 PublicationCorresponds to variant dbSNP:rs10484847Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_022614 | 1978 – 2013 | Missing in isoform 2. CuratedAdd BLAST | 36 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF356519 mRNA Translation: AAK60620.1 AL034345 Genomic DNA No translation available. AL035555 Genomic DNA No translation available. AL035690 Genomic DNA No translation available. AL353700 Genomic DNA No translation available. AL391415 Genomic DNA No translation available. Z83806 mRNA Translation: CAB06060.1 AJ132091 mRNA Translation: CAA10564.1 |
RefSeqi | NP_001193856.1, NM_001206927.1 XP_011512623.1, XM_011514321.1 |
Genome annotation databases
Ensembli | ENST00000359357.7; ENSP00000352312.3; ENSG00000124721.18 |
GeneIDi | 1769 |
KEGGi | hsa:1769 |
UCSCi | uc003ooe.3, human [Q96JB1-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF356519 mRNA Translation: AAK60620.1 AL034345 Genomic DNA No translation available. AL035555 Genomic DNA No translation available. AL035690 Genomic DNA No translation available. AL353700 Genomic DNA No translation available. AL391415 Genomic DNA No translation available. Z83806 mRNA Translation: CAB06060.1 AJ132091 mRNA Translation: CAA10564.1 |
RefSeqi | NP_001193856.1, NM_001206927.1 XP_011512623.1, XM_011514321.1 |
3D structure databases
SMRi | Q96JB1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 108108, 10 interactors |
IntActi | Q96JB1, 3 interactors |
STRINGi | 9606.ENSP00000333363 |
PTM databases
CarbonylDBi | Q96JB1 |
GlyGeni | Q96JB1, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q96JB1 |
PhosphoSitePlusi | Q96JB1 |
Genetic variation databases
BioMutai | DNAH8 |
DMDMi | 124007137 |
Proteomic databases
EPDi | Q96JB1 |
MassIVEi | Q96JB1 |
MaxQBi | Q96JB1 |
PaxDbi | Q96JB1 |
PeptideAtlasi | Q96JB1 |
PRIDEi | Q96JB1 |
ProteomicsDBi | 76924 [Q96JB1-1] 76925 [Q96JB1-2] |
Protocols and materials databases
Antibodypediai | 29878, 52 antibodies from 16 providers |
DNASUi | 1769 |
Genome annotation databases
Ensembli | ENST00000359357.7; ENSP00000352312.3; ENSG00000124721.18 |
GeneIDi | 1769 |
KEGGi | hsa:1769 |
UCSCi | uc003ooe.3, human [Q96JB1-1] |
Organism-specific databases
CTDi | 1769 |
DisGeNETi | 1769 |
GeneCardsi | DNAH8 |
GeneReviewsi | DNAH8 |
HGNCi | HGNC:2952, DNAH8 |
HPAi | ENSG00000124721, Tissue enhanced (epididymis, prostate, testis) |
MalaCardsi | DNAH8 |
MIMi | 603337, gene 619095, phenotype |
neXtProti | NX_Q96JB1 |
OpenTargetsi | ENSG00000124721 |
PharmGKBi | PA27405 |
VEuPathDBi | HostDB:ENSG00000124721 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3595, Eukaryota |
GeneTreei | ENSGT00940000158992 |
HOGENOMi | CLU_000038_9_1_1 |
InParanoidi | Q96JB1 |
OrthoDBi | 6295at2759 |
PhylomeDBi | Q96JB1 |
TreeFami | TF316836 |
Enzyme and pathway databases
PathwayCommonsi | Q96JB1 |
SignaLinki | Q96JB1 |
Miscellaneous databases
BioGRID-ORCSi | 1769, 7 hits in 318 CRISPR screens |
ChiTaRSi | DNAH8, human |
GenomeRNAii | 1769 |
Pharosi | Q96JB1, Tbio |
PROi | PR:Q96JB1 |
RNActi | Q96JB1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124721, Expressed in testis and 53 other tissues |
ExpressionAtlasi | Q96JB1, baseline and differential |
Genevisiblei | Q96JB1, 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 3.40.50.300, 5 hits |
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR035699, AAA_6 IPR035706, AAA_9 IPR041658, AAA_lid_11 IPR042219, AAA_lid_11_sf IPR026983, DHC_fam IPR041589, DNAH3_AAA_lid_1 IPR042222, Dynein_2_N IPR043157, Dynein_AAA1S IPR041466, Dynein_AAA5_ext IPR041228, Dynein_C IPR043160, Dynein_C_barrel IPR024743, Dynein_HC_stalk IPR024317, Dynein_heavy_chain_D4_dom IPR004273, Dynein_heavy_D6_P-loop IPR013602, Dynein_heavy_linker IPR013594, Dynein_heavy_tail IPR042228, Dynein_linker_3 IPR027417, P-loop_NTPase |
PANTHERi | PTHR10676, PTHR10676, 1 hit |
Pfami | View protein in Pfam PF12774, AAA_6, 1 hit PF12780, AAA_8, 1 hit PF12781, AAA_9, 1 hit PF17857, AAA_lid_1, 1 hit PF18198, AAA_lid_11, 1 hit PF08385, DHC_N1, 1 hit PF08393, DHC_N2, 1 hit PF17852, Dynein_AAA_lid, 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 |
MobiDBi | Search... |
Entry informationi
Entry namei | DYH8_HUMAN | |
Accessioni | Q96JB1Primary (citable) accession number: Q96JB1 Secondary accession number(s): O00438 Q9UEM4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 23, 2007 |
Last sequence update: | January 23, 2007 | |
Last modified: | May 25, 2022 | |
This is version 146 of the entry and version 2 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
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families