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Protein

Dynein heavy chain 17, axonemal

Gene

DNAH17

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. Involved in sperm motility; implicated in sperm flagellar assembly (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi1833 – 18408ATPSequence analysis
Nucleotide bindingi2114 – 21218ATPSequence analysis
Nucleotide bindingi2441 – 24488ATPSequence analysis
Nucleotide bindingi2787 – 27948ATPSequence analysis

GO - Molecular functioni

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

GO - Biological processi

  • cilium or flagellum-dependent cell motility Source: UniProtKB
  • microtubule-based movement Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein heavy chain 17, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 17
Axonemal dynein heavy chain-like protein 1
Ciliary dynein heavy chain 17
Ciliary dynein heavy chain-like protein 1
Dynein light chain 2, axonemal
Gene namesi
Name:DNAH17
Synonyms:DNAHL1, DNEL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:2946. DNAH17.

Subcellular locationi

GO - Cellular componenti

  • axonemal dynein complex Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Polymorphism and mutation databases

DMDMi172044714.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 44854485Dynein heavy chain 17, axonemalPRO_0000323749Add
BLAST

Proteomic databases

MaxQBiQ9UFH2.
PaxDbiQ9UFH2.
PeptideAtlasiQ9UFH2.
PRIDEiQ9UFH2.

PTM databases

iPTMnetiQ9UFH2.
PhosphoSiteiQ9UFH2.

Expressioni

Tissue specificityi

Expressed in testis.1 Publication

Gene expression databases

BgeeiENSG00000187775.
CleanExiHS_DNAH17.
ExpressionAtlasiQ9UFH2. baseline and differential.
GenevisibleiQ9UFH2. HS.

Organism-specific databases

HPAiHPA024354.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000374490.

Structurei

3D structure databases

ProteinModelPortaliQ9UFH2.
SMRiQ9UFH2. Positions 1406-1650, 3041-3701, 3895-4126.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati1019 – 105234TPR 1Add
BLAST
Repeati1691 – 172535TPR 2Add
BLAST
Repeati4141 – 417636TPR 3Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 17941794StemBy similarityAdd
BLAST
Regioni1795 – 2016222AAA 1By similarityAdd
BLAST
Regioni2076 – 2297222AAA 2By similarityAdd
BLAST
Regioni2403 – 2651249AAA 3By similarityAdd
BLAST
Regioni2749 – 2998250AAA 4By similarityAdd
BLAST
Regioni3013 – 3299287StalkBy similarityAdd
BLAST
Regioni3391 – 3618228AAA 5By similarityAdd
BLAST
Regioni3828 – 4062235AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili3013 – 307260Sequence analysisAdd
BLAST
Coiled coili3243 – 329553Sequence 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 (By similarity).By similarity

Sequence similaritiesi

Belongs to the dynein heavy chain family.Curated
Contains 3 TPR repeats.Curated

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
InParanoidiQ9UFH2.
OrthoDBiEOG091G00Z2.
PhylomeDBiQ9UFH2.
TreeFamiTF316836.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR011704. 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. 3 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]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UFH2-1) [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
MTMAPDVRLE YLEEVASIVL KFKPDKWSKL IGAEENVALF TEFFEKPDVQ
60 70 80 90 100
VLVLTLNAAG MIIPCLGFPQ SLKSKGVYFI KTKSENINKD NYRARLLYGD
110 120 130 140 150
ISPTPVDQLI AVVEEVLSSL LNQSENMAGW PQVVSEDIVK QVHRLKNEMF
160 170 180 190 200
VMSGKIKGKT LLPIPEHLGS LDGTLESMER IPSSLDNLLL HAIETTIIDW
210 220 230 240 250
SHQIRDVLSK DSAQALLDGL HPLPQVEFEF WDARLLNLKC IHEQLNRPKV
260 270 280 290 300
NKIVEILEKA KSCYWPALQN VYTNVTEGLK EANDIVLYLK PLRILLEEME
310 320 330 340 350
QADFTMLPTF IAKVLDTICF IWATSEYYNT PARIIVILQE FCNQIIEMTR
360 370 380 390 400
TFLSPEEVLK GLQGEIEEVL SGISLAVNVL KELYQTYDFC CVNMKLFFKD
410 420 430 440 450
KEPVPWEFPS SLAFSRINSF FQRIQTIEEL YKTAIEFLKL EKIELGGVRG
460 470 480 490 500
NLLGSLVTRI YDEVFELVKV FADCKYDPLD PGDSNFDRDY ADFEIKIQDL
510 520 530 540 550
DRRLATIFCQ GFDDCSCIKS SAKLLYMCGG LMERPLILAE VAPRYSVMLE
560 570 580 590 600
LFDAELDNAK ILYDAQMAAS EEGNIPLIHK NMPPVAGQLK WSLELQERLE
610 620 630 640 650
VSMKHLKHVE HPVMSGAEAK LTYQKYDEMM ELLRCHREKI YQQWVAGVDQ
660 670 680 690 700
DCHFNLGQPL ILRDAASNLI HVNFSKALVA VLREVKYLNF QQQKEIPDSA
710 720 730 740 750
ESLFSENETF RKFVGNLELI VGWYNEIKTI VKAVEFLLIK SELEAIDVKL
760 770 780 790 800
LSAETTLFWN GEGVFQYIQE VREILHNLQN RMQKAKQNIE GISQAMKDWS
810 820 830 840 850
ANPLFERKDN KKEALLDLDG RIANLNKRYA AVRDAGVKIQ AMVAENAELF
860 870 880 890 900
RADTLSLPWK DYVIYIDDMV LDEFDQFIRK SLSFLMDNMV IDESIAPLFE
910 920 930 940 950
IRMELDEDGL TFNPTLEVGS DRGFLALIEG LVNDIYNVAR LIPRLAKDRM
960 970 980 990 1000
NYKMDLEDNT DLIEMREEVS SLVINAMKEA EEYQDSFERY SYLWTDNLQE
1010 1020 1030 1040 1050
FMKNFLIYGC AVTAEDLDTW TDDTIPKTPP TLAQFQEQID SYEKLYEEVS
1060 1070 1080 1090 1100
KCENTKVFHG WLQCDCRPFK QALLSTIRRW GFMFKRHLSN HVTNSLADLE
1110 1120 1130 1140 1150
AFMKVARMGL TKPLKEGDYD GLVEVMGHLM KVKERQAATD NMFEPLKQTI
1160 1170 1180 1190 1200
ELLKTYGEEM PEEIHLKLQE LPEHWANTKK LAIQVKLTVA PLQANEVSIL
1210 1220 1230 1240 1250
RRKCQQFELK QHEFRERFRR EAPFSFSDPN PYKSLNKVFL LKGIMEALSK
1260 1270 1280 1290 1300
SGGLFEVPVP DYKQLKACHR EVRLLKELWD MVVVVNTSIE DWKTTKWKDI
1310 1320 1330 1340 1350
NVEQMDIDCK KFAKDMRSLD KEMKTWDAFV GLDNTVKNVI TSLRAVSELQ
1360 1370 1380 1390 1400
NPAIRERHWQ QLMQATQVKF KMSEETTLAD LLQLNLHSYE DEVRNIVDKA
1410 1420 1430 1440 1450
VKESGMEKVL KALDSTWSMM EFQHEPHPRT GTMMLKSSEV LVETLEDNQV
1460 1470 1480 1490 1500
QLQNLMMSKY LAHFLKEVTS WQQKLSTADS VISIWFEVQR TWSHLESIFI
1510 1520 1530 1540 1550
GSEDIRTQLP GDSQRFDDIN QEFKALMEDA VKTPNVVEAT SKPGLYNKLE
1560 1570 1580 1590 1600
ALKKSLAICE KALAEYLETK RLAFPRFYFV SSADLLDILS NGNDPVEVSR
1610 1620 1630 1640 1650
HLSKLFDSLC KLKFRLDASD KPLKVGLGMY SKEDEYMVFD QECDLSGQVE
1660 1670 1680 1690 1700
VWLNRVLDRM CSTLRHEIPE AVVTYEEKPR EQWILDYPAQ IWWTTEVGLA
1710 1720 1730 1740 1750
FARLEEGYEN AIKDYNKKQI SQLNVLITLL IGNLNAGDRM KIMTICTIDV
1760 1770 1780 1790 1800
HARDVVAKMI VESSQAFTWQ AQLRHRWDEE KRHCFANICD AQIQYSYEYL
1810 1820 1830 1840 1850
GNTPRLVITP LTDRCYITLT QSLHLIMGGA PAGPAGTGKT ETTKDLGRAL
1860 1870 1880 1890 1900
GTMVYVFNCS EQMDYKSCGN IYKGLAQTGA WGCFDEFNRI SVEVLSVIAV
1910 1920 1930 1940 1950
QVKCVQDAIR AKKKAFNFLG EIIGLIPTVG IFITMNPGYA GRAELPENLK
1960 1970 1980 1990 2000
ALFRPCAMVV PDFELICEIM LMAEGFLEAR LLARKFITLY TLCKELLSKQ
2010 2020 2030 2040 2050
DHYDWGLRAI KSVLVVAGSL KRGDPSRAED QVLMRALRDF NIPKIVTDDL
2060 2070 2080 2090 2100
PVFMGLIGDL FPALDVPRKR DLNFEKIIKQ SIVELKLQAE DSFVLKVVQL
2110 2120 2130 2140 2150
EELLQVRHSV FIVGNAGSGK SQVLKSLNKT YQNLKRKPVA VDLDPKAVTC
2160 2170 2180 2190 2200
DELFGIINPV TREWKDGLFS TIMRDLANIT HDGPKWIILD GDIDPMWIES
2210 2220 2230 2240 2250
LNTVMDDNKV LTLASNERIP LNRTMRLVFE ISHLRTATPA TVSRAGILYI
2260 2270 2280 2290 2300
NPADLGWNPV VSSWIERRKV QSEKANLMIL FDKYLPTCLD KLRFGFKKIT
2310 2320 2330 2340 2350
PVPEITVIQT ILYLLECLLT EKTVPPDSPR ELYELYFVFT CFWAFGGAMF
2360 2370 2380 2390 2400
QDQLVDYRVE FSKWWINEFK TIKFPSQGTI FDYYIDPDTK KFLPWTDKVP
2410 2420 2430 2440 2450
SFELDPDVPL QASLVHTTET IRIRYFMDLL MEKSWPVMLV GNAGTGKSVL
2460 2470 2480 2490 2500
MGDKLESLNT DNYLVQAVPF NFYTTSAMLQ GVLEKPLEKK SGRNYGPPGT
2510 2520 2530 2540 2550
KKLVYFIDDM NMPEVDKYGT VAPHTLIRQH MDHRHWYDRH KLTLKDIHNC
2560 2570 2580 2590 2600
QYVACMNPTS GSFTIDSRLQ RHFCVFAVSF PGQEALTTIY NTILTQHLAF
2610 2620 2630 2640 2650
RSVSMAIQRI SSQLVAAALA LHQKITATFL PTAIKFHYVF NLRDLSNIFQ
2660 2670 2680 2690 2700
GLLFSTAEVL KTPLDLVRLW LHETERVYGD KMVDEKDQET LHRVTMASTK
2710 2720 2730 2740 2750
KFFDDLGDEL LFAKPNIFCH FAQGIGDPKY VPVTDMAPLN KLLVDVLDSY
2760 2770 2780 2790 2800
NEVNAVMNLV LFEDAVAHIC RINRILESPR GNALLVGVGG SGKQSLSRLA
2810 2820 2830 2840 2850
AYISGLDVFQ ITLKKGYGIP DLKIDLAAQY IKAAVKNVPS VFLMTDSQVA
2860 2870 2880 2890 2900
EEQFLVLIND LLASGEIPGL FMEDEVENII SSMRPQVKSL GMNDTRETCW
2910 2920 2930 2940 2950
KFFIEKVRRQ LKVILCFSPV GSVLRVRARK FPAVVNCTAI DWFHEWPEDA
2960 2970 2980 2990 3000
LVSVSARFLE ETEGIPWEVK ASISFFMSYV HTTVNEMSRV YLATERRYNY
3010 3020 3030 3040 3050
TTPKTFLEQI KLYQNLLAKK RTELVAKIER LENGLMKLQS TASQVDDLKA
3060 3070 3080 3090 3100
KLAIQEAELK QKNESADQLI QVVGIEAEKV SKEKAIADQE EVKVEVINKN
3110 3120 3130 3140 3150
VTEKQKACET DLAKAEPALL AAQEALDTLN KNNLTELKSF GSPPDAVVNV
3160 3170 3180 3190 3200
TAAVMILTAP GGKIPKDKSW KAAKIMMGKV DTFLDSLKKF DKEHIPEACL
3210 3220 3230 3240 3250
KAFKPYQGNP TFDPEFIRSK STAAAGLCSW CINIVRFYEV YCDVAPKRQA
3260 3270 3280 3290 3300
LEEANAELAE AQEKLSRIKN KIAELNANLS NLTSAFEKAT AEKIKCQQEA
3310 3320 3330 3340 3350
DATNRVILLA NRLVGGLASE NIRWAESVEN FRSQGVTLCG DVLLISAFVS
3360 3370 3380 3390 3400
YVGYFTKKYR NELMEKFWIP YIHNLKVPIP ITNGLDPLSL LTDDADVATW
3410 3420 3430 3440 3450
NNQGLPSDRM STENATILGN TERWPLIVDA QLQGIKWIKN KYRSELKAIR
3460 3470 3480 3490 3500
LGQKSYLDVI EQAISEGDTL LIENIGETVD PVLDPLLGRN TIKKGKYIKI
3510 3520 3530 3540 3550
GDKEVEYHPK FRLILHTKYF NPHYKPEMQA QCTLINFLVT RDGLEDQLLA
3560 3570 3580 3590 3600
AVVAKERPDL EQLKANLTKS QNEFKIVLKE LEDSLLARLS AASGNFLGDT
3610 3620 3630 3640 3650
ALVENLETTK HTASEIEEKV VEAKITEVKI NEARENYRPA AERASLLYFI
3660 3670 3680 3690 3700
LNDLNKINPV YQFSLKAFNV VFEKAIQRTT PANEVKQRVI NLTDEITYSV
3710 3720 3730 3740 3750
YMYTARGLFE RDKLIFLAQV TFQVLSMKKE LNPVELDFLL RFPFKAGVVS
3760 3770 3780 3790 3800
PVDFLQHQGW GGIKALSEMD EFKNLDSDIE GSAKRWKKLV ESEAPEKEIF
3810 3820 3830 3840 3850
PKEWKNKTAL QKLCMVRCLR PDRMTYAIKN FVEEKMGSKF VEGRSVEFSK
3860 3870 3880 3890 3900
SYEESSPSTS IFFILSPGVD PLKDVEALGK KLGFTIDNGK LHNVSLGQGQ
3910 3920 3930 3940 3950
EVVAENALDV AAEKGHWVIL QVRGGQHCRN IHLVARWLGT LDKKLERYST
3960 3970 3980 3990 4000
GSHEDYRVFI SAEPAPSPET HIIPQGILEN AIKITNEPPT GMHANLHKAL
4010 4020 4030 4040 4050
DLFTQDTLEM CTKEMEFKCM LFALCYFHAV VAERRKFGAQ GWNRSYPFNN
4060 4070 4080 4090 4100
GDLTISINVL YNYLEANPKV PWDDLRYLFG EIMYGGHITD DWDRRLCRTY
4110 4120 4130 4140 4150
LAEYIRTEML EGDVLLAPGF QIPPNLDYKG YHEYIDENLP PESPYLYGLH
4160 4170 4180 4190 4200
PNAEIGFLTV TSEKLFRTVL EMQPKETDSG AGTGVSREEK AGSLKLLPSE
4210 4220 4230 4240 4250
RKGEDLELRR GGCPGTGFQV KAVLDDILEK IPETFNMAEI MAKAAEKTPY
4260 4270 4280 4290 4300
VVVAFQECER MNILTNEMRR SLKELNLGLK GELTITTDVE DLSTALFYDT
4310 4320 4330 4340 4350
VPDTWVARAY PSMMGLAAWY ADLLLRIREL EAWTTDFALP TTVWLAGFFN
4360 4370 4380 4390 4400
PQSFLTAIMQ SMARKNEWPL DKMCLSVEVT KKNREDMTAP PREGSYVYGL
4410 4420 4430 4440 4450
FMEGARWDTQ TGVIAEARLK ELTPAMPVIF IKAIPVDRME TKNIYECPVY
4460 4470 4480
KTRIRGPTYV WTFNLKTKEK AAKWILAAVA LLLQV
Length:4,485
Mass (Da):511,787
Last modified:March 18, 2008 - v2
Checksum:i886B87E945229406
GO
Isoform 2 (identifier: Q9UFH2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3922-3929: Missing.
     4191-4219: Missing.

Show »
Length:4,448
Mass (Da):507,838
Checksum:i1C1C50B440A85539
GO
Isoform 3 (identifier: Q9UFH2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3527: Missing.
     3922-3929: Missing.
     4191-4219: Missing.
     4329-4385: ELEAWTTDFA...SVEVTKKNRE → RLVCPCRNSR...PWTRCVCLSR
     4386-4485: Missing.

Note: No experimental confirmation available.
Show »
Length:821
Mass (Da):93,142
Checksum:iE1A56721C9861BA3
GO
Isoform 4 (identifier: Q9UFH2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-298: Missing.
     845-864: ENAELFRADTLSLPWKDYVI → VRKHPGGFLRTHLLLAGRRE
     865-4485: Missing.

Show »
Length:566
Mass (Da):65,114
Checksum:iCF8DAA60DD62EAA7
GO

Sequence cautioni

The sequence CAA04165 differs from that shown. Reason: Frameshift at positions 3502 and 3533. Curated
The sequence CAB59252 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti732 – 7321K → N in BAC05170 (PubMed:14702039).Curated
Sequence conflicti779 – 7791Q → H in BAC05170 (PubMed:14702039).Curated
Sequence conflicti1847 – 18493GRA → DRP in CAB06053 (PubMed:9373155).Curated
Sequence conflicti1896 – 18961S → Y in CAB06053 (PubMed:9373155).Curated
Sequence conflicti1915 – 19151A → K in CAB06053 (PubMed:9373155).Curated
Sequence conflicti1924 – 19263GLI → SLV in CAB06053 (PubMed:9373155).Curated
Sequence conflicti3464 – 34641I → T in CAA04165 (PubMed:9545504).Curated
Sequence conflicti3482 – 34821V → A in CAA04165 (PubMed:9545504).Curated
Sequence conflicti3564 – 35641K → E in AK128065 (PubMed:14702039).Curated
Sequence conflicti3601 – 36011A → T in CAA04165 (PubMed:9545504).Curated
Sequence conflicti3952 – 39521S → R in CAA04165 (PubMed:9545504).Curated
Sequence conflicti3961 – 39611S → R in CAA04165 (PubMed:9545504).Curated
Sequence conflicti3993 – 39931H → Y in CAA04165 (PubMed:9545504).Curated
Sequence conflicti3997 – 39971H → Y in CAA04165 (PubMed:9545504).Curated
Sequence conflicti4235 – 42351F → L in AK128065 (PubMed:14702039).Curated
Sequence conflicti4354 – 43541F → L in CAA04165 (PubMed:9545504).Curated
Sequence conflicti4437 – 44371D → A in CAA04165 (PubMed:9545504).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti492 – 4921D → N.
Corresponds to variant rs34868091 [ dbSNP | Ensembl ].
VAR_039581
Natural varianti792 – 7921I → V.
Corresponds to variant rs16971526 [ dbSNP | Ensembl ].
VAR_062178
Natural varianti963 – 9631I → T.
Corresponds to variant rs11651537 [ dbSNP | Ensembl ].
VAR_062179
Natural varianti1958 – 19581M → V.
Corresponds to variant rs691652 [ dbSNP | Ensembl ].
VAR_062180

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 35273527Missing in isoform 3. 1 PublicationVSP_032108Add
BLAST
Alternative sequencei1 – 298298Missing in isoform 4. 2 PublicationsVSP_032109Add
BLAST
Alternative sequencei845 – 86420ENAEL…KDYVI → VRKHPGGFLRTHLLLAGRRE in isoform 4. 2 PublicationsVSP_032110Add
BLAST
Alternative sequencei865 – 44853621Missing in isoform 4. 2 PublicationsVSP_032111Add
BLAST
Alternative sequencei3922 – 39298Missing in isoform 2 and isoform 3. 3 PublicationsVSP_032112
Alternative sequencei4191 – 421929Missing in isoform 2 and isoform 3. 3 PublicationsVSP_032113Add
BLAST
Alternative sequencei4329 – 438557ELEAW…KKNRE → RLVCPCRNSRPGRQTLPCPP PCGWPASSTPSRSSRPSCSP WPGRTSGPWTRCVCLSR in isoform 3. 1 PublicationVSP_032114Add
BLAST
Alternative sequencei4386 – 4485100Missing in isoform 3. 1 PublicationVSP_032115Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097776 mRNA. Translation: BAC05170.1.
AK128065 mRNA. No translation available.
AC016182 Genomic DNA. No translation available.
AC061992 Genomic DNA. No translation available.
BC105107 mRNA. No translation available.
BC112284 mRNA. No translation available.
Z83799 mRNA. Translation: CAB06053.1.
AL122077 mRNA. Translation: CAB59252.1. Different initiation.
AJ000522 mRNA. Translation: CAA04165.1. Frameshift.
PIRiT34558.
UniGeneiHs.375975.

Genome annotation databases

EnsembliENST00000389840; ENSP00000374490; ENSG00000187775.
UCSCiuc010dhp.2. human. [Q9UFH2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK097776 mRNA. Translation: BAC05170.1.
AK128065 mRNA. No translation available.
AC016182 Genomic DNA. No translation available.
AC061992 Genomic DNA. No translation available.
BC105107 mRNA. No translation available.
BC112284 mRNA. No translation available.
Z83799 mRNA. Translation: CAB06053.1.
AL122077 mRNA. Translation: CAB59252.1. Different initiation.
AJ000522 mRNA. Translation: CAA04165.1. Frameshift.
PIRiT34558.
UniGeneiHs.375975.

3D structure databases

ProteinModelPortaliQ9UFH2.
SMRiQ9UFH2. Positions 1406-1650, 3041-3701, 3895-4126.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000374490.

PTM databases

iPTMnetiQ9UFH2.
PhosphoSiteiQ9UFH2.

Polymorphism and mutation databases

DMDMi172044714.

Proteomic databases

MaxQBiQ9UFH2.
PaxDbiQ9UFH2.
PeptideAtlasiQ9UFH2.
PRIDEiQ9UFH2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389840; ENSP00000374490; ENSG00000187775.
UCSCiuc010dhp.2. human. [Q9UFH2-1]

Organism-specific databases

GeneCardsiDNAH17.
H-InvDBHIX0019803.
HGNCiHGNC:2946. DNAH17.
HPAiHPA024354.
MIMi610063. gene.
neXtProtiNX_Q9UFH2.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
HOGENOMiHOG000237309.
HOVERGENiHBG107831.
InParanoidiQ9UFH2.
OrthoDBiEOG091G00Z2.
PhylomeDBiQ9UFH2.
TreeFamiTF316836.

Miscellaneous databases

ChiTaRSiDNAH17. human.
PROiQ9UFH2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187775.
CleanExiHS_DNAH17.
ExpressionAtlasiQ9UFH2. baseline and differential.
GenevisibleiQ9UFH2. HS.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR011704. 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. 3 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]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiDYH17_HUMAN
AccessioniPrimary (citable) accession number: Q9UFH2
Secondary accession number(s): O00431
, O15206, Q2M2Y1, Q6ZRQ2, Q8N7Q7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: March 18, 2008
Last modified: September 7, 2016
This is version 107 of the entry and version 2 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.