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Protein

Dynein heavy chain 9, axonemal

Gene

DNAH9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Force generating protein of respiratory cilia. 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1870 – 18778ATPSequence analysis
Nucleotide bindingi2151 – 21588ATPSequence analysis
Nucleotide bindingi2478 – 24858ATPSequence analysis
Nucleotide bindingi2825 – 28328ATPSequence analysis

GO - Molecular functioni

  • ATPase activity Source: InterPro
  • ATP binding Source: UniProtKB-KW
  • microtubule motor activity Source: InterPro
  • motor activity Source: ProtInc

GO - Biological processi

  • cell projection organization Source: UniProtKB-KW
  • microtubule-based movement Source: InterPro
  • movement of cell or subcellular component Source: ProtInc
  • spermatogenesis Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein heavy chain 9, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 9
Ciliary dynein heavy chain 9
Gene namesi
Name:DNAH9
Synonyms:DNAH17L, DNAL1, KIAA0357
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:2953. DNAH9.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: SYSCILIA_CCNET
  • cytoplasm Source: UniProtKB-KW
  • cytoskeleton Source: ProtInc
  • dynein complex Source: UniProtKB-KW
  • microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27406.

Polymorphism and mutation databases

BioMutaiDNAH9.
DMDMi311033454.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 44864486Dynein heavy chain 9, axonemalPRO_0000114632Add
BLAST

Proteomic databases

EPDiQ9NYC9.
PaxDbiQ9NYC9.
PRIDEiQ9NYC9.

PTM databases

iPTMnetiQ9NYC9.
PhosphoSiteiQ9NYC9.

Expressioni

Gene expression databases

BgeeiQ9NYC9.
CleanExiHS_DNAH9.
HS_DNAL1.
ExpressionAtlasiQ9NYC9. baseline and differential.
GenevisibleiQ9NYC9. HS.

Organism-specific databases

HPAiHPA052641.

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains.

Protein-protein interaction databases

BioGridi108109. 3 interactions.
IntActiQ9NYC9. 1 interaction.
STRINGi9606.ENSP00000262442.

Structurei

3D structure databases

ProteinModelPortaliQ9NYC9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 18311831StemBy similarityAdd
BLAST
Regioni1832 – 2053222AAA 1By similarityAdd
BLAST
Regioni2113 – 2334222AAA 2By similarityAdd
BLAST
Regioni2440 – 2688249AAA 3By similarityAdd
BLAST
Regioni2787 – 3036250AAA 4By similarityAdd
BLAST
Regioni3051 – 3341291StalkBy similarityAdd
BLAST
Regioni3429 – 3656228AAA 5By similarityAdd
BLAST
Regioni3866 – 4092227AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili381 – 41030Sequence analysisAdd
BLAST
Coiled coili504 – 52926Sequence analysisAdd
BLAST
Coiled coili639 – 66224Sequence analysisAdd
BLAST
Coiled coili752 – 82372Sequence analysisAdd
BLAST
Coiled coili1326 – 135530Sequence analysisAdd
BLAST
Coiled coili3051 – 3154104Sequence analysisAdd
BLAST
Coiled coili3285 – 334157Sequence analysisAdd
BLAST
Coiled coili3640 – 367536Sequence analysisAdd
BLAST

Domaini

Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function.

Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
InParanoidiQ9NYC9.
KOiK10408.
OMAiAFANGQN.
OrthoDBiEOG7K9K21.
PhylomeDBiQ9NYC9.
TreeFamiTF316836.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
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. 2 hits.
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. 4 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NYC9-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
MRLAEERAAL AAENADGEPG ADRRLRLLGT YVAMSLRPAA GAWERCAGSA
60 70 80 90 100
EAEQLLQAFL GRDAAEGPRP LLVVRPGPRG LAIRPGLEVG PESGLAGAKA
110 120 130 140 150
LFFLRTGPEP PGPDSFRGAV VCGDLPAAPL EHLAALFSEV VLPVLANEKN
160 170 180 190 200
RLNWPHMICE DVRRHAHSLQ CDLSVILEQV KGKTLLPLPA GSEKMEFADS
210 220 230 240 250
KSETVLDSID KSVIYAIESA VIKWSYQVQV VLKRESSQPL LQGENPTPKV
260 270 280 290 300
ELEFWKSRYE DLKYIYNQLR TITVRGMAKL LDKLQSSYFP AFKAMYRDVV
310 320 330 340 350
AALAEAQDIH VHLIPLQRHL EALENAEFPE VKPQLRPLLH VVCLIWATCK
360 370 380 390 400
SYRSPGRLTV LLQEICNLLI QQASNYLSPE DLLRSEVEES QRKLQVVSDT
410 420 430 440 450
LSFFKQEFQD RRENLHTYFK ENQEVKEWDF QSSLVFVRLD GFLGQLHVVE
460 470 480 490 500
GLLKTALDFH KLGKVEFSGV RGNALSQQVQ QMHEEFQEMY RLLSGSSSDC
510 520 530 540 550
LYLQSTDFEN DVSEFNQKVE DLDRRLGTIF IQAFDDAPGL EHAFKLLDIA
560 570 580 590 600
GNLLERPLVA RDTSDKYLVL IQMFNKDLDA VRMIYSQHVQ EEAELGFSPV
610 620 630 640 650
HKNMPTVAGG LRWAQELRQR IQGPFSNFGR ITHPCMESAE GKRMQQKYED
660 670 680 690 700
MLSLLEKYET RLYEDWCRTV SEKSQYNLSQ PLLKRDPETK EITINFNPQL
710 720 730 740 750
ISVLKEMSYL EPREMKHMPE TAAAMFSSRD FYRQLVANLE LMANWYNKVM
760 770 780 790 800
KTLLEVEFPL VEEELQNIDL RLRAAEETLN WKTEGICDYV TEITSSIHDL
810 820 830 840 850
EQRIQKTKDN VEEIQNIMKT WVTPIFKTKD GKRESLLSLD DRHDRMEKYY
860 870 880 890 900
NLIKESGLKI HALVQENLGL FSADPTSNIW KTYVNSIDNL LLNGFFLAIE
910 920 930 940 950
CSLKYLLENT ECKAGLTPIF EAQLSLAIPE LVFYPSLESG VKGGFCDIVE
960 970 980 990 1000
GLITSIFRIP SLVPRLSPQN GSPHYQVDLD GIPDLANMRR TLMERVQRMM
1010 1020 1030 1040 1050
GLCCGYQSTF SQYSYLYVED RKEVLGQFLL YGHILTPEEI EDHVEDGIPE
1060 1070 1080 1090 1100
NPPLLSQFKV QIDSYETLYE EVCRLEPIKV FDGWMKIDIR PFKASLLNII
1110 1120 1130 1140 1150
KRWSLLFKQH LVDHVTHSLA NLDAFIKKSE SGLLKKVEKG DFQGLVEIMG
1160 1170 1180 1190 1200
HLMAVKERQS NTDEMFEPLK QTIELLKTYE QELPETVFKQ LEELPEKWNN
1210 1220 1230 1240 1250
IKKVAITVKQ QVAPLQANEV TLLRQRCTAF DAEQQQFWEQ FHKEAPFRFD
1260 1270 1280 1290 1300
SIHPHQMLDA RHIEIQQMES TMASISESAS LFEVNVPDYK QLRQCRKEVC
1310 1320 1330 1340 1350
QLKELWDTIG MVTSSIHAWE TTPWRNINVE AMELECKQFA RHIRNLDKEV
1360 1370 1380 1390 1400
RAWDAFTGLE STVWNTLSSL RAVAELQNPA IRERHWRQLM QATGVSFTMD
1410 1420 1430 1440 1450
QDTTLAHLLQ LQLHHYEDEV RGIVDKAAKE MGMEKTLKEL QTTWAGMEFQ
1460 1470 1480 1490 1500
YEPHPRTNVP LLCSDEDLIE VLEDNQVQLQ NLVMSKYVAF FLEEVSGWQK
1510 1520 1530 1540 1550
KLSTVDAVIS IWFEVQRTWT HLESIFTGSE DIRAQLPQDS KRFEGIDIDF
1560 1570 1580 1590 1600
KELAYDAQKI PNVVQTTNKP GLYEKLEDIQ GRLCLCEKAL AEYLDTKRLA
1610 1620 1630 1640 1650
FPRFYFLSSS DLLDILSNGT APQQVQRHLS KLFDNMAKMR FQLDASGEPT
1660 1670 1680 1690 1700
KTSLGMYSKE EEYVAFSEPC DCSGQVEIWL NHVLGHMKAT VRHEMTEGVT
1710 1720 1730 1740 1750
AYEEKPREQW LFDHPAQVAL TCTQIWWTTE VGMAFARLEE GYESAMKDYY
1760 1770 1780 1790 1800
KKQVAQLKTL ITMLIGQLSK GDRQKIMTIC TIDVHARDVV AKMIAQKVDN
1810 1820 1830 1840 1850
AQAFLWLSQL RHRWDDEVKH CFANICDAQF LYSYEYLGNT PRLVITPLTD
1860 1870 1880 1890 1900
RCYITLTQSL HLTMSGAPAG PAGTGKTETT KDLGRALGIL VYVFNCSEQM
1910 1920 1930 1940 1950
DYKSCGNIYK GLAQTGAWGC FDEFNRISVE VLSVVAVQVK SIQDAIRDKK
1960 1970 1980 1990 2000
QWFSFLGEEI SLNPSVGIFI TMNPGYAGRT ELPENLKSLF RPCAMVVPDF
2010 2020 2030 2040 2050
ELICEIMLVA EGFIEAQSLA RKFITLYQLC KELLSKQDHY DWGLRAIKSV
2060 2070 2080 2090 2100
LVVAGSLKRG DPDRPEDQVL MRSLRDFNIP KIVTDDMPIF MGLIGDLFPA
2110 2120 2130 2140 2150
LDVPRRRDPN FEALVRKAIV DLKLQAEDNF VLKVVQLEEL LAVRHSVFVV
2160 2170 2180 2190 2200
GGAGTGKSQV LRSLHKTYQI MKRRPVWTDL NPKAVTNDEL FGIINPATGE
2210 2220 2230 2240 2250
WKDGLFSSIM RELANITHDG PKWILLDGDI DPMWIESLNT VMDDNKVLTL
2260 2270 2280 2290 2300
ASNERIPLNP TMKLLFEISH LRTATPATVS RAGILYINPA DLGWNPPVSS
2310 2320 2330 2340 2350
WIEKREIQTE RANLTILFDK YLPTCLDTLR TRFKKIIPIP EQSMVQMVCH
2360 2370 2380 2390 2400
LLECLLTTED IPADCPKEIY EHYFVFAAIW AFGGAMVQDQ LVDYRAEFSK
2410 2420 2430 2440 2450
WWLTEFKTVK FPSQGTIFDY YIDPETKKFE PWSKLVPQFE FDPEMPLQAC
2460 2470 2480 2490 2500
LVHTSETIRV CYFMERLMAR QRPVMLVGTA GTGKSVLVGA KLASLDPEAY
2510 2520 2530 2540 2550
LVKNVPFNYY TTSAMLQAVL EKPLEKKAGR NYGPPGNKKL IYFIDDMNMP
2560 2570 2580 2590 2600
EVDAYGTVQP HTIIRQHLDY GHWYDRSKLS LKEITNVQYV SCMNPTAGSF
2610 2620 2630 2640 2650
TINPRLQRHF SVFVLSFPGA DALSSIYSII LTQHLKLGNF PASLQKSIPP
2660 2670 2680 2690 2700
LIDLALAFHQ KIATTFLPTG IKFHYIFNLR DFANIFQGIL FSSVECVKST
2710 2720 2730 2740 2750
WDLIRLYLHE SNRVYRDKMV EEKDFDLFDK IQTEVLKKTF DDIEDPVEQT
2760 2770 2780 2790 2800
QSPNLYCHFA NGIGEPKYMP VQSWELLTQT LVEALENHNE VNTVMDLVLF
2810 2820 2830 2840 2850
EDAMRHVCHI NRILESPRGN ALLVGVGGSG KQSLTRLAAF ISSMDVFQIT
2860 2870 2880 2890 2900
LRKGYQIQDF KMDLASLCLK AGVKNLNTVF LMTDAQVADE RFLVLINDLL
2910 2920 2930 2940 2950
ASGEIPDLYS DDEVENIISN VRNEVKSQGL VDNRENCWKF FIDRIRRQLK
2960 2970 2980 2990 3000
VTLCFSPVGN KLRVRSRKFP AIVNCTAIHW FHEWPQQALE SVSLRFLQNT
3010 3020 3030 3040 3050
EGIEPTVKQS ISKFMAFVHT SVNQTSQSYL SNEQRYNYTT PKSFLEFIRL
3060 3070 3080 3090 3100
YQSLLHRHRK ELKCKTERLE NGLLKLHSTS AQVDDLKAKL AAQEVELKQK
3110 3120 3130 3140 3150
NEDADKLIQV VGVETDKVSR EKAMADEEEQ KVAVIMLEVK QKQKDCEEDL
3160 3170 3180 3190 3200
AKAEPALTAA QAALNTLNKT NLTELKSFGS PPLAVSNVSA AVMVLMAPRG
3210 3220 3230 3240 3250
RVPKDRSWKA AKVTMAKVDG FLDSLINFNK ENIHENCLKA IRPYLQDPEF
3260 3270 3280 3290 3300
NPEFVATKSY AAAGLCSWVI NIVRFYEVFC DVEPKRQALN KATADLTAAQ
3310 3320 3330 3340 3350
EKLAAIKAKI AHLNENLAKL TARFEKATAD KLKCQQEAEV TAVTISLANR
3360 3370 3380 3390 3400
LVGGLASENV RWADAVQNFK QQERTLCGDI LLITAFISYL GFFTKKYRQS
3410 3420 3430 3440 3450
LLDRTWRPYL SQLKTPIPVT PALDPLRMLM DDADVAAWQN EGLPADRMSV
3460 3470 3480 3490 3500
ENATILINCE RWPLMVDPQL QGIKWIKNKY GEDLRVTQIG QKGYLQIIEQ
3510 3520 3530 3540 3550
ALEAGAVVLI ENLEESIDPV LGPLLGREVI KKGRFIKIGD KECEYNPKFR
3560 3570 3580 3590 3600
LILHTKLANP HYQPELQAQA TLINFTVTRD GLEDQLLAAV VSMERPDLEQ
3610 3620 3630 3640 3650
LKSDLTKQQN GFKITLKTLE DSLLSRLSSA SGNFLGETVL VENLEITKQT
3660 3670 3680 3690 3700
AAEVEKKVQE AKVTEVKINE AREHYRPAAA RASLLYFIMN DLSKIHPMYQ
3710 3720 3730 3740 3750
FSLKAFSIVF QKAVERAAPD ESLRERVANL IDSITFSVYQ YTIRGLFECD
3760 3770 3780 3790 3800
KLTYLAQLTF QILLMNREVN AVELDFLLRS PVQTGTASPV EFLSHQAWGA
3810 3820 3830 3840 3850
VKVLSSMEEF SNLDRDIEGS AKSWKKFVES ECPEKEKLPQ EWKNKTALQR
3860 3870 3880 3890 3900
LCMLRAMRPD RMTYALRDFV EEKLGSKYVV GRALDFATSF EESGPATPMF
3910 3920 3930 3940 3950
FILSPGVDPL KDVESQGRKL GYTFNNQNFH NVSLGQGQEV VAEAALDLAA
3960 3970 3980 3990 4000
KKGHWVILQN IHLVAKWLST LEKKLEEHSE NSHPEFRVFM SAEPAPSPEG
4010 4020 4030 4040 4050
HIIPQGILEN SIKITNEPPT GMHANLHKAL DNFTQDTLEM CSRETEFKSI
4060 4070 4080 4090 4100
LFALCYFHAV VAERRKFGPQ GWNRSYPFNT GDLTISVNVL YNFLEANAKV
4110 4120 4130 4140 4150
PYDDLRYLFG EIMYGGHITD DWDRRLCRTY LGEFIRPEML EGELSLAPGF
4160 4170 4180 4190 4200
PLPGNMDYNG YHQYIDAELP PESPYLYGLH PNAEIGFLTQ TSEKLFRTVL
4210 4220 4230 4240 4250
ELQPRDSQAR DGAGATREEK VKALLEEILE RVTDEFNIPE LMAKVEERTP
4260 4270 4280 4290 4300
YIVVAFQECG RMNILTREIQ RSLRELELGL KGELTMTSHM ENLQNALYFD
4310 4320 4330 4340 4350
MVPESWARRA YPSTAGLAAW FPDLLNRIKE LEAWTGDFTM PSTVWLTGFF
4360 4370 4380 4390 4400
NPQSFLTAIM QSTARKNEWP LDQMALQCDM TKKNREEFRS PPREGAYIHG
4410 4420 4430 4440 4450
LFMEGACWDT QAGIITEAKL KDLTPPMPVM FIKAIPADKQ DCRSVYSCPV
4460 4470 4480
YKTSQRGPTY VWTFNLKTKE NPSKWVLAGV ALLLQI
Length:4,486
Mass (Da):511,877
Last modified:November 2, 2010 - v3
Checksum:i27EB53C39FA3A293
GO
Isoform 2 (identifier: Q9NYC9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3961-4036: Missing.

Note: No experimental confirmation available.
Show »
Length:4,410
Mass (Da):503,345
Checksum:i62B16681AF5C0C04
GO
Isoform 3 (identifier: Q9NYC9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3688: Missing.

Note: No experimental confirmation available.
Show »
Length:798
Mass (Da):91,135
Checksum:iCAC7718F47D65599
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2216 – 22161I → T in BAA21573 (PubMed:9205841).Curated
Sequence conflicti2505 – 25051V → L in AAF69004 (Ref. 1) Curated
Sequence conflicti3678 – 36781A → T in AAF69004 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti151 – 1511R → H.
Corresponds to variant rs17599639 [ dbSNP | Ensembl ].
VAR_046312
Natural varianti445 – 4451Q → R.2 Publications
Corresponds to variant rs9892256 [ dbSNP | Ensembl ].
VAR_046313
Natural varianti771 – 7711R → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_036214
Natural varianti842 – 8421R → W.
Corresponds to variant rs16945138 [ dbSNP | Ensembl ].
VAR_046314
Natural varianti1158 – 11581R → W.
Corresponds to variant rs8070501 [ dbSNP | Ensembl ].
VAR_046315
Natural varianti1221 – 12211T → A.
Corresponds to variant rs9916482 [ dbSNP | Ensembl ].
VAR_046316
Natural varianti2087 – 20871M → V.
Corresponds to variant rs9892290 [ dbSNP | Ensembl ].
VAR_046317
Natural varianti2195 – 21951N → S.
Corresponds to variant rs3744581 [ dbSNP | Ensembl ].
VAR_046318
Natural varianti2438 – 24381Q → H.
Corresponds to variant rs2277658 [ dbSNP | Ensembl ].
VAR_046319
Natural varianti2653 – 26531D → H in a breast cancer sample; somatic mutation. 1 Publication
VAR_036215
Natural varianti2961 – 29611K → R.
Corresponds to variant rs11870983 [ dbSNP | Ensembl ].
VAR_046320
Natural varianti2968 – 29681K → N.
Corresponds to variant rs11871037 [ dbSNP | Ensembl ].
VAR_046321
Natural varianti3664 – 36641T → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_036216
Natural varianti3726 – 37261R → Q.
Corresponds to variant rs16945431 [ dbSNP | Ensembl ].
VAR_046322
Natural varianti3726 – 37261R → W.
Corresponds to variant rs3760436 [ dbSNP | Ensembl ].
VAR_046323
Natural varianti4036 – 40361D → N.
Corresponds to variant rs17612861 [ dbSNP | Ensembl ].
VAR_046324
Natural varianti4374 – 43741M → I.1 Publication
Corresponds to variant rs1990236 [ dbSNP | Ensembl ].
VAR_046325
Natural varianti4443 – 44431R → C.
Corresponds to variant rs9913494 [ dbSNP | Ensembl ].
VAR_046326
Natural varianti4462 – 44621W → R.
Corresponds to variant rs8074656 [ dbSNP | Ensembl ].
VAR_046327

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 36883688Missing in isoform 3. 1 PublicationVSP_043443Add
BLAST
Alternative sequencei3961 – 403676Missing in isoform 2. 1 PublicationVSP_035285Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257737 mRNA. Translation: AAF69004.1.
AJ404468 mRNA. Translation: CAB94756.1.
AC005209 Genomic DNA. No translation available.
AC005410 Genomic DNA. No translation available.
AC005701 Genomic DNA. No translation available.
BC128421 mRNA. Translation: AAI28422.1.
AB002355 mRNA. Translation: BAA21573.2.
AJ132088 mRNA. Translation: CAA10561.1.
CCDSiCCDS11160.1. [Q9NYC9-1]
CCDS11161.1. [Q9NYC9-3]
RefSeqiNP_001363.2. NM_001372.3. [Q9NYC9-1]
NP_004653.2. NM_004662.2. [Q9NYC9-3]
UniGeneiHs.567259.

Genome annotation databases

EnsembliENST00000262442; ENSP00000262442; ENSG00000007174. [Q9NYC9-1]
ENST00000608377; ENSP00000476951; ENSG00000007174. [Q9NYC9-3]
GeneIDi1770.
KEGGihsa:1770.
UCSCiuc002gne.3. human. [Q9NYC9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF257737 mRNA. Translation: AAF69004.1.
AJ404468 mRNA. Translation: CAB94756.1.
AC005209 Genomic DNA. No translation available.
AC005410 Genomic DNA. No translation available.
AC005701 Genomic DNA. No translation available.
BC128421 mRNA. Translation: AAI28422.1.
AB002355 mRNA. Translation: BAA21573.2.
AJ132088 mRNA. Translation: CAA10561.1.
CCDSiCCDS11160.1. [Q9NYC9-1]
CCDS11161.1. [Q9NYC9-3]
RefSeqiNP_001363.2. NM_001372.3. [Q9NYC9-1]
NP_004653.2. NM_004662.2. [Q9NYC9-3]
UniGeneiHs.567259.

3D structure databases

ProteinModelPortaliQ9NYC9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108109. 3 interactions.
IntActiQ9NYC9. 1 interaction.
STRINGi9606.ENSP00000262442.

PTM databases

iPTMnetiQ9NYC9.
PhosphoSiteiQ9NYC9.

Polymorphism and mutation databases

BioMutaiDNAH9.
DMDMi311033454.

Proteomic databases

EPDiQ9NYC9.
PaxDbiQ9NYC9.
PRIDEiQ9NYC9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262442; ENSP00000262442; ENSG00000007174. [Q9NYC9-1]
ENST00000608377; ENSP00000476951; ENSG00000007174. [Q9NYC9-3]
GeneIDi1770.
KEGGihsa:1770.
UCSCiuc002gne.3. human. [Q9NYC9-1]

Organism-specific databases

CTDi1770.
GeneCardsiDNAH9.
H-InvDBHIX0013543.
HGNCiHGNC:2953. DNAH9.
HPAiHPA052641.
MIMi603330. gene.
neXtProtiNX_Q9NYC9.
PharmGKBiPA27406.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
InParanoidiQ9NYC9.
KOiK10408.
OMAiAFANGQN.
OrthoDBiEOG7K9K21.
PhylomeDBiQ9NYC9.
TreeFamiTF316836.

Miscellaneous databases

GeneWikiiDNAH9.
GenomeRNAii1770.
NextBioi7205.
PROiQ9NYC9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NYC9.
CleanExiHS_DNAH9.
HS_DNAL1.
ExpressionAtlasiQ9NYC9. baseline and differential.
GenevisibleiQ9NYC9. HS.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR003593. AAA+_ATPase.
IPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
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. 2 hits.
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. 4 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A ciliary dynein heavy chain whose expression is upregulated in differentiating airway epithelium."
    Reed W., Moats-Staats B.M., Carson J.L., Leigh M.W., Collier A.M.
    Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ARG-445 AND ILE-4374.
  2. "Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia."
    Bartoloni L., Blouin J.-L., Maiti A.K., Sainsbury A., Rossier C., Gehrig C., She J.X., Marron M.P., Lander E.S., Meeks M., Chung E.M.K., Armengot M., Jorissen M., Scott H.S., Delozier-Blanchet C.D., Gardiner R.M., Antonarakis S.E.
    Genomics 72:21-33(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-445.
    Tissue: Nasal epithelium.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
  5. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1419-4486 (ISOFORM 2).
    Tissue: Brain.
  6. Ohara O., Nagase T., Kikuno R., Yamakawa H., Nomura N.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  7. "Chromosomal localization of human dynein heavy chain genes."
    Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Ziegler A., Bouvagnet P.
    Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1874-1974 (ISOFORM 1).
    Tissue: Nasal polyp.
  8. "Characterization of an axonemal dynein heavy chain expressed early in airway epithelial ciliogenesis."
    Reed W., Carson J.L., Moats-Staats B.M., Lucier T., Hu P.C., Brighton L., Gambling T.M., Huang C.H., Leigh M.W., Collier A.M.
    Am. J. Respir. Cell Mol. Biol. 23:734-741(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.
  9. Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-771; HIS-2653 AND ASN-3664.

Entry informationi

Entry nameiDYH9_HUMAN
AccessioniPrimary (citable) accession number: Q9NYC9
Secondary accession number(s): A2VCQ8
, O15064, O95494, Q9NQ28
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: November 2, 2010
Last modified: May 11, 2016
This is version 132 of the entry and version 3 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 17
    Human chromosome 17: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.