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Protein

Dynein heavy chain 7, axonemal

Gene

DNAH7

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 (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi132 – 1398ATPSequence analysis
Nucleotide bindingi1328 – 13358ATPSequence analysis
Nucleotide bindingi1609 – 16168ATPSequence analysis
Nucleotide bindingi1976 – 19838ATPSequence analysis
Nucleotide bindingi2341 – 23488ATPSequence analysis

GO - Molecular functioni

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

GO - Biological processi

  • cilium movement Source: SYSCILIA_CCNET
  • cilium or flagellum-dependent cell motility Source: UniProtKB
  • inner dynein arm assembly Source: SYSCILIA_CCNET
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein heavy chain 7, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 7
Ciliary dynein heavy chain 7
Dynein heavy chain-like protein 2
hDHC2
Gene namesi
Name:DNAH7
Synonyms:KIAA0944
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:18661. DNAH7.

Subcellular locationi

GO - Cellular componenti

  • axonemal dynein complex Source: UniProtKB
  • cilium Source: MGI
  • cytoplasm Source: HPA
  • inner dynein arm Source: SYSCILIA_CCNET
  • microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38625.

Polymorphism and mutation databases

BioMutaiDNAH7.
DMDMi311033375.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 40244024Dynein heavy chain 7, axonemalPRO_0000317666Add
BLAST

Proteomic databases

EPDiQ8WXX0.
MaxQBiQ8WXX0.
PaxDbiQ8WXX0.
PRIDEiQ8WXX0.

PTM databases

iPTMnetiQ8WXX0.
PhosphoSiteiQ8WXX0.

Expressioni

Tissue specificityi

Detected in brain, testis and trachea. Detected in bronchial cells (at protein level).2 Publications

Inductioni

Up-regulated during ciliogenesis (at protein level).1 Publication

Gene expression databases

BgeeiQ8WXX0.
ExpressionAtlasiQ8WXX0. baseline and differential.
GenevisibleiQ8WXX0. HS.

Organism-specific databases

HPAiHPA034724.

Interactioni

Subunit structurei

The dynein complex consists of at least two heavy chains and a number of intermediate and light chains.By similarity

Protein-protein interaction databases

BioGridi121102. 2 interactions.
IntActiQ8WXX0. 1 interaction.
MINTiMINT-7970490.
STRINGi9606.ENSP00000311273.

Structurei

3D structure databases

ProteinModelPortaliQ8WXX0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 12891289StemBy similarityAdd
BLAST
Regioni1290 – 1511222AAA 1By similarityAdd
BLAST
Regioni1571 – 1802232AAA 2By similarityAdd
BLAST
Regioni1938 – 2189252AAA 3By similarityAdd
BLAST
Regioni2302 – 2555254AAA 4By similarityAdd
BLAST
Regioni2572 – 2873302StalkBy similarityAdd
BLAST
Regioni2954 – 3184231AAA 5By similarityAdd
BLAST
Regioni3397 – 3620224AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili685 – 74561Sequence analysisAdd
BLAST
Coiled coili2827 – 288357Sequence 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

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOVERGENiHBG107830.
InParanoidiQ8WXX0.
KOiK10408.
OMAiWEPWVKK.
OrthoDBiEOG7BW0HH.
PhylomeDBiQ8WXX0.
TreeFamiTF316836.

Family and domain databases

Gene3Di3.40.50.300. 5 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026983. DHC_fam.
IPR026979. DNAH7.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013602. Dynein_heavy_dom-2.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PTHR10676:SF138. PTHR10676:SF138. 1 hit.
PfamiPF12780. AAA_8. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[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: Q8WXX0-1) [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
MSSEQDKSAS KEKSKKPVRF LPQLSMEKLA SKEKFKAPAR ALPQLSMVST
60 70 80 90 100
KPHWQQAAPS FHLSVKQDDE SPEPFSVKNE QSHAEYMERF GKKGKLPHQV
110 120 130 140 150
DDSYVGPSTS KSKGKSPHKE RENFRSTLVN VIMQQDADLD SAVPDGSTIP
160 170 180 190 200
KPTASAIEKD ILRYYYYIHH GIDTDHVAPM EDSWLEHVLD LVPQHLKVFT
210 220 230 240 250
DSIVTLSDEM REDYLLSVRK SIVDFVLKDP REKGDDKKTD ELPAHRAEME
260 270 280 290 300
ILPKPWRKSF LAASSYIRDH LNAMNPTMLA VLDLWHTNFK KLRLVDIKEF
310 320 330 340 350
HNCQDALELS SFQNIIMRHM DSAKETLLKM WFPEVQNIYY QGNKKKQLPT
360 370 380 390 400
GDSSAKLESF FNCAAALMTL QLQDLTLVSM QDFTDLIAQP PDSVRAFEHP
410 420 430 440 450
GFIMRLILDN DTIKFEPELS DYIDIFLNVY DVMIKAVSFV PRVETKLYSK
460 470 480 490 500
WESKSKPTTL KPIILNEIVD AHKEKIKEVI MKESVAPTEH LRLYDKYDFL
510 520 530 540 550
ITRKAERDVD NFLAENHSYE KIIDEICKYQ KLIEEIQYTS IKTIRLGMFE
560 570 580 590 600
MHCEELIRAL VKRADIICGK LLAKMFRDHQ EVNTRLCDEF ERIAEKALST
610 620 630 640 650
PPNTAELMEM KAYIQKVEVT DMIELEQRLV DSKNCLAFLI EYVNFSPADM
660 670 680 690 700
RLNNSVFQWY GRMGEIFEEH RKIIKEKIEQ YQEGLKLRCE RFVEELESYA
710 720 730 740 750
KQSEEFYSFG DLQDVQRYLK KAQILNGKLD LAADKIEQFN AEEEAFGWLP
760 770 780 790 800
SVYPQRKKIQ DGLNPYLRLY ETAVEFSSNY RAWTEGPYHK VNPDQVEADI
810 820 830 840 850
GNYWRGLYKL EKTFHDSPYA LAMTKKVRSK VEDFKQHIPL IQVICNPGLR
860 870 880 890 900
PRHWEAMSAI VGYPLQPSDD STVSSFLDMN LEPYIDRFEG ISEAASKEYS
910 920 930 940 950
LEKAMEKMIT EWDAVEFVIH SYRETGTFIL ASVDEIQMLL DDHIIKTQTM
960 970 980 990 1000
RGSPFIKPYE KQMREWEGKL LLLQEILDEW LKVQATWLYL EPIFSSPDIM
1010 1020 1030 1040 1050
SQMPEEGRRF TAVDKTWRDI MRSVMQDKHV LTVVTIDRML ERLKKSNELL
1060 1070 1080 1090 1100
ELILKGLNEY LEKKRLFFPR FFFLSNDELL EILSETKDPT RVQPHLKKCF
1110 1120 1130 1140 1150
EGIAKVEFTE TLDITHMKSS EGEVVELIEI ISTAKARGQV EKWLVELERV
1160 1170 1180 1190 1200
MINSIHKVTG DATFAYTKYE RINWVRDWPG QTVLCVSQIF WTKEVQTAIP
1210 1220 1230 1240 1250
MGIKALEQYL KTCNRQIDDI VTLVRGKLSM QNRVTLGALV VLDVHARDVL
1260 1270 1280 1290 1300
SSLVKKNISD DSDFEWLSQL RYYWQENHLE TKMINAGLRY GYEYLGNSPR
1310 1320 1330 1340 1350
LVITPLTDRC YRTLFGALHL HLGGAPEGPA GTGKTETTKD LAKAVAKQCV
1360 1370 1380 1390 1400
VFNCSDGLDY LALGKFFKGL LSCGAWACFD EFNRIDLEVL SVVAQQILTI
1410 1420 1430 1440 1450
QRGINAGADI LMFEGTELKL DPTCAVFITM NPGYAGRSEL PDNLKALFRT
1460 1470 1480 1490 1500
VAMMVPDYAM IAEIVLYSCG FVTARPLSVK IVATYRLCSE QLSSQHHYDY
1510 1520 1530 1540 1550
GMRAVKSVLT AAGNLKLKYP NENEEILLLR SIIDVNLPKF LSHDLPLFEG
1560 1570 1580 1590 1600
ITSDLFPGVK LPKPDYNDLL AAIKDNCASM NLQMTAFFSE KILQVYEMMI
1610 1620 1630 1640 1650
VRHGFMIVGE PFGGKTSAYR VLAGALNDIC EKGLMEENKV QITVLNPKSV
1660 1670 1680 1690 1700
TMGQLYGQFD SVSHEWSDGV LAVSFRAFAS SVTPDRKWLI FDGPVDAVWI
1710 1720 1730 1740 1750
ENMNTVLDDN KKLCLMSGEI IQMSPQMNLI FEPMDLEVAS PATVSRCGMI
1760 1770 1780 1790 1800
YMEPHMLGWR PLMLSWVNLL PASVSVIQKE FIMGLFDRMV PVSVEFIRKH
1810 1820 1830 1840 1850
TKELSPTSDT NLVRSLMNLI DCFMDDFADE VKLKERNDRE TYSLLEGIFL
1860 1870 1880 1890 1900
FSLIWSVGAS CTDDDRLKFN KILRELMESP ISDRTRNTFK LQSGTEQTSS
1910 1920 1930 1940 1950
KALTVPFPEK GTIYDYQFVT EGIGKWEPWI KKLKEAPPIP KDVMFNEIIV
1960 1970 1980 1990 2000
PTLDTIRYSA LMELLTTHQK PSIFVGPTGT GKSVYITNFL LNQLNKEIYK
2010 2020 2030 2040 2050
PLLINFSAQT TAAQTQNIVM SKLDKRRKGV FGPPLGKRMV VFVDDVNMPA
2060 2070 2080 2090 2100
REVYGAQPPI ELLRQWLDHW NWYDLKDCSM IKLVDIQIMC AMGPPGGGRN
2110 2120 2130 2140 2150
PVTPRYMRHF NIITINEFSD KSMYTIFSRI LTWHLEICYK FPDEFLDLTT
2160 2170 2180 2190 2200
QIVNGTMTLY KEAMKNLLPT PAKSHYLFNL RDFSRVIQGV CLSRPETTET
2210 2220 2230 2240 2250
TEVIKRLWVH EVLRVYYDRL LDNTDRSWLI NYIQEILRNY MYEDFHELFQ
2260 2270 2280 2290 2300
RLDFDNDGMV EADDLRSLMF CDFHDPKRED TNYREIADVD NLRMIVEIHL
2310 2320 2330 2340 2350
EEYNNISKKP MNLVLFRFAI EHISRISRIL KQPRSHALLV GVGGSGRQSV
2360 2370 2380 2390 2400
TRLAAHMADY SVFQVEISKG YDTTEWHEDL KVILRKCAEG EMQGVFLFTD
2410 2420 2430 2440 2450
TQIKEESFLE DVSNLLNAGE IPNLFALDEK QEICDKMRQL DRQRDKTKQT
2460 2470 2480 2490 2500
DGSPIALFNM FIDHCRSQLH VVLAMSPIGD AFRNRLRKFP ALVNCCTIDW
2510 2520 2530 2540 2550
FQSWPEDALQ AVASRFLEEI EMSEEIRDGC IDMCKSFHTS TIDLSKSFFV
2560 2570 2580 2590 2600
ELQRYNYVTP TSYLELISTF KLLLEKKRSE VMKMKKRYEV GLEKLDSASS
2610 2620 2630 2640 2650
QVATMQMELE ALHPQLKVAS KEVDEMMIMI EKESVEVAKT EKIVKADETI
2660 2670 2680 2690 2700
ANEQAMASKA IKDECDADLA GALPILESAL AALDTLTAQD ITVVKSMKSP
2710 2720 2730 2740 2750
PAGVKLVMEA ICILKGIKAD KIPDPTGSGK KIEDFWGPAK RLLGDMRFLQ
2760 2770 2780 2790 2800
SLHEYDKDNI PPAYMNIIRK NYIPNPDFVP EKIRNASTAA EGLCKWVIAM
2810 2820 2830 2840 2850
DSYDKVAKIV APKKIKLAAA EGELKIAMDG LRKKQAALKE VQDKLARLQD
2860 2870 2880 2890 2900
TLELNKQKKA DLENQVDLCS KKLERAEQLI GGLGGEKTRW SHTALELGQL
2910 2920 2930 2940 2950
YINLTGDILI SSGVVAYLGA FTSTYRQNQT KEWTTLCKGR DIPCSDDCSL
2960 2970 2980 2990 3000
MGTLGEAVTI RTWNIAGLPS DSFSIDNGII IMNARRWPLM IDPQSQANKW
3010 3020 3030 3040 3050
IKNMEKANSL YVIKLSEPDY VRTLENCIQF GTPVLLENVG EELDPILEPL
3060 3070 3080 3090 3100
LLKQTFKQGG STCIRLGDST IEYAPDFRFY ITTKLRNPHY LPETSVKVTL
3110 3120 3130 3140 3150
LNFMITPEGM QDQLLGIVVA QERPDLEEEK QALILQGAEN KRQLKEIEDK
3160 3170 3180 3190 3200
ILEVLSSSEG NILEDETAIK ILSSSKALAN EISQKQEVAE ETEKKIDTTR
3210 3220 3230 3240 3250
MGYRPIAIHS SILFFSLADL ANIEPMYQYS LTWFINLFIL SIENSEKSEI
3260 3270 3280 3290 3300
LAKRLQILKD HFTYSLYVNV CRSLFEKDKL LFSFCLTINL LLHERAINKA
3310 3320 3330 3340 3350
EWRFLLTGGI GLDNPYANLC TWLPQKSWDE ICRLDDLPAF KTIRREFMRL
3360 3370 3380 3390 3400
KDGWKKVYDS LEPHHEVFPE EWEDKANEFQ RMLIIRCLRP DKVIPMLQEF
3410 3420 3430 3440 3450
IINRLGRAFI EPPPFDLAKA FGDSNCCAPL IFVLSPGADP MAALLKFADD
3460 3470 3480 3490 3500
QGYGGSKLSS LSLGQGQGPI AMKMLEKAVK EGTWVVLQNC HLATSWMPTL
3510 3520 3530 3540 3550
EKVCEELSPE STHPDFRMWL TSYPSPNFPV SVLQNGVKMT NEAPKGLRAN
3560 3570 3580 3590 3600
IIRSYLMDPI SDPEFFGSCK KPEEFKKLLY GLCFFHALVQ ERRKFGPLGW
3610 3620 3630 3640 3650
NIPYEFNETD LRISVQQLHM FLNQYEELPY EALRYMTGEC NYGGRVTDDW
3660 3670 3680 3690 3700
DRRTLRSILN KFFNPELVEN SDYKFDSSGI YFVPPSGDHK SYIEYTKTLP
3710 3720 3730 3740 3750
LTPAPEIFGM NANADITKDQ SETQLLFDNI LLTQSRSAGA GAKSSDEVVN
3760 3770 3780 3790 3800
EVASDILGKL PNNFDIEAAM RRYPTTYTQS MNTVLVQEMG RFNKLLKTIR
3810 3820 3830 3840 3850
DSCVNIQKAI KGLAVMSTDL EEVVSSILNV KIPEMWMGKS YPSLKPLGSY
3860 3870 3880 3890 3900
VNDFLARLKF LQQWYEVGPP PVFWLSGFFF TQAFLTGAQQ NYARKYTIPI
3910 3920 3930 3940 3950
DLLGFDYEVM EDKEYKHPPE DGVFIHGLFL DGASWNRKIK KLAESHPKIL
3960 3970 3980 3990 4000
YDTVPVMWLK PCKRADIPKR PSYVAPLYKT SERRGVLSTT GHSTNFVIAM
4010 4020
TLPSDQPKEH WIGRGVALLC QLNS
Length:4,024
Mass (Da):461,159
Last modified:November 2, 2010 - v2
Checksum:i3C2E3B2D7B886540
GO
Isoform 2 (identifier: Q8WXX0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-3517: Missing.

Show »
Length:507
Mass (Da):57,974
Checksum:iAB5707A34AB8C4A9
GO
Isoform 3 (identifier: Q8WXX0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1452: Missing.
     1633-1639: GLMEENK → ASILLMH
     1640-4024: Missing.

Note: No experimental confirmation available.
Show »
Length:187
Mass (Da):20,899
Checksum:i6E20B0069EADFBBB
GO
Isoform 4 (identifier: Q8WXX0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     452-501: ESKSKPTTLK...RLYDKYDFLI → RNKAKPGHFY...VLGFTWRCQL
     502-4024: Missing.

Note: No experimental confirmation available.
Show »
Length:501
Mass (Da):57,686
Checksum:i003C7D9464323C5D
GO

Sequence cautioni

The sequence BAA76788.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAB06055.1 differs from that shown. Reason: Frameshift at position 1502. Curated
The sequence CAH18445.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH18445.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti433 – 4331M → V in BAC04372 (PubMed:14702039).Curated
Sequence conflicti1020 – 10201I → T in BAA76788 (PubMed:10231032).Curated
Sequence conflicti1292 – 12921Y → F in CAA10557 (PubMed:11175280).Curated
Sequence conflicti1353 – 13531N → D in CAB06055 (PubMed:9373155).Curated
Sequence conflicti1355 – 13551S → P in CAB06055 (PubMed:9373155).Curated
Sequence conflicti1467 – 14671Y → H in CAH18445 (PubMed:17974005).Curated
Sequence conflicti1502 – 15021M → L in CAB06055 (PubMed:9373155).Curated
Sequence conflicti3563 – 35631P → L in AAH29567 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691H → P.
Corresponds to variant rs1072599 [ dbSNP | Ensembl ].
VAR_038580
Natural varianti280 – 2801A → T.
Corresponds to variant rs2375643 [ dbSNP | Ensembl ].
VAR_038581
Natural varianti315 – 3151I → V.
Corresponds to variant rs17838596 [ dbSNP | Ensembl ].
VAR_038582
Natural varianti438 – 4381S → N.
Corresponds to variant rs16843720 [ dbSNP | Ensembl ].
VAR_038583
Natural varianti545 – 5451R → C.1 Publication
Corresponds to variant rs10931715 [ dbSNP | Ensembl ].
VAR_038584
Natural varianti565 – 5651D → H.
Corresponds to variant rs2635718 [ dbSNP | Ensembl ].
VAR_038585
Natural varianti675 – 6751K → E.
Corresponds to variant rs10198893 [ dbSNP | Ensembl ].
VAR_038586
Natural varianti825 – 8251K → E.
Corresponds to variant rs6719500 [ dbSNP | Ensembl ].
VAR_038587
Natural varianti1422 – 14221P → T.
Corresponds to variant rs168192 [ dbSNP | Ensembl ].
VAR_038588
Natural varianti1525 – 15251E → K.
Corresponds to variant rs13415574 [ dbSNP | Ensembl ].
VAR_038589
Natural varianti1886 – 18861R → Q.
Corresponds to variant rs13034775 [ dbSNP | Ensembl ].
VAR_038590
Natural varianti1940 – 19401P → L.
Corresponds to variant rs2375544 [ dbSNP | Ensembl ].
VAR_038591
Natural varianti1971 – 19711P → L.
Corresponds to variant rs2889109 [ dbSNP | Ensembl ].
VAR_038592
Natural varianti2020 – 20201M → T.
Corresponds to variant rs10184131 [ dbSNP | Ensembl ].
VAR_038593
Natural varianti2459 – 24591N → K.
Corresponds to variant rs16841199 [ dbSNP | Ensembl ].
VAR_038594
Natural varianti2569 – 25691T → I.
Corresponds to variant rs2293066 [ dbSNP | Ensembl ].
VAR_038595
Natural varianti2809 – 28091I → V.
Corresponds to variant rs16841018 [ dbSNP | Ensembl ].
VAR_038596
Natural varianti3319 – 33191L → P.2 Publications
Corresponds to variant rs13411834 [ dbSNP | Ensembl ].
VAR_038597
Natural varianti3386 – 33861R → H.
Corresponds to variant rs6708527 [ dbSNP | Ensembl ].
VAR_038598

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 35173517Missing in isoform 2. 1 PublicationVSP_031131Add
BLAST
Alternative sequencei1 – 14521452Missing in isoform 3. 1 PublicationVSP_031132Add
BLAST
Alternative sequencei452 – 50150ESKSK…YDFLI → RNKAKPGHFYFSHIQRSVTF QHSEVSSPQNSHFKIVSPFS VLGFTWRCQL in isoform 4. 1 PublicationVSP_031133Add
BLAST
Alternative sequencei502 – 40243523Missing in isoform 4. 1 PublicationVSP_031134Add
BLAST
Alternative sequencei1633 – 16397GLMEENK → ASILLMH in isoform 3. 1 PublicationVSP_031135
Alternative sequencei1640 – 40242385Missing in isoform 3. 1 PublicationVSP_031136Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327442 mRNA. Translation: AAL37427.1.
AB023161 mRNA. Translation: BAA76788.2. Different initiation.
AK094515 mRNA. Translation: BAC04372.1.
CR749651 mRNA. Translation: CAH18445.1. Sequence problems.
AC013274 Genomic DNA. Translation: AAY14776.1.
AC068919 Genomic DNA. Translation: AAY14995.1.
AC104600 Genomic DNA. Translation: AAY24051.1.
AC114760 Genomic DNA. No translation available.
BC029567 mRNA. Translation: AAH29567.1.
AJ132084 mRNA. Translation: CAA10557.1.
AJ132093 Genomic DNA. Translation: CAB46444.1.
Z83801 mRNA. Translation: CAB06055.1. Frameshift.
CCDSiCCDS42794.1. [Q8WXX0-1]
RefSeqiNP_061720.2. NM_018897.2. [Q8WXX0-1]
XP_011509789.1. XM_011511487.1. [Q8WXX0-1]
UniGeneiHs.97403.

Genome annotation databases

EnsembliENST00000312428; ENSP00000311273; ENSG00000118997. [Q8WXX0-1]
ENST00000409063; ENSP00000386912; ENSG00000118997. [Q8WXX0-2]
ENST00000410072; ENSP00000386260; ENSG00000118997. [Q8WXX0-4]
GeneIDi56171.
KEGGihsa:56171.
UCSCiuc002uti.5. human. [Q8WXX0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF327442 mRNA. Translation: AAL37427.1.
AB023161 mRNA. Translation: BAA76788.2. Different initiation.
AK094515 mRNA. Translation: BAC04372.1.
CR749651 mRNA. Translation: CAH18445.1. Sequence problems.
AC013274 Genomic DNA. Translation: AAY14776.1.
AC068919 Genomic DNA. Translation: AAY14995.1.
AC104600 Genomic DNA. Translation: AAY24051.1.
AC114760 Genomic DNA. No translation available.
BC029567 mRNA. Translation: AAH29567.1.
AJ132084 mRNA. Translation: CAA10557.1.
AJ132093 Genomic DNA. Translation: CAB46444.1.
Z83801 mRNA. Translation: CAB06055.1. Frameshift.
CCDSiCCDS42794.1. [Q8WXX0-1]
RefSeqiNP_061720.2. NM_018897.2. [Q8WXX0-1]
XP_011509789.1. XM_011511487.1. [Q8WXX0-1]
UniGeneiHs.97403.

3D structure databases

ProteinModelPortaliQ8WXX0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121102. 2 interactions.
IntActiQ8WXX0. 1 interaction.
MINTiMINT-7970490.
STRINGi9606.ENSP00000311273.

PTM databases

iPTMnetiQ8WXX0.
PhosphoSiteiQ8WXX0.

Polymorphism and mutation databases

BioMutaiDNAH7.
DMDMi311033375.

Proteomic databases

EPDiQ8WXX0.
MaxQBiQ8WXX0.
PaxDbiQ8WXX0.
PRIDEiQ8WXX0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312428; ENSP00000311273; ENSG00000118997. [Q8WXX0-1]
ENST00000409063; ENSP00000386912; ENSG00000118997. [Q8WXX0-2]
ENST00000410072; ENSP00000386260; ENSG00000118997. [Q8WXX0-4]
GeneIDi56171.
KEGGihsa:56171.
UCSCiuc002uti.5. human. [Q8WXX0-1]

Organism-specific databases

CTDi56171.
GeneCardsiDNAH7.
H-InvDBHIX0002692.
HGNCiHGNC:18661. DNAH7.
HPAiHPA034724.
MIMi610061. gene.
neXtProtiNX_Q8WXX0.
PharmGKBiPA38625.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
GeneTreeiENSGT00760000118964.
HOVERGENiHBG107830.
InParanoidiQ8WXX0.
KOiK10408.
OMAiWEPWVKK.
OrthoDBiEOG7BW0HH.
PhylomeDBiQ8WXX0.
TreeFamiTF316836.

Miscellaneous databases

ChiTaRSiDNAH7. human.
GenomeRNAii56171.
NextBioi61814.
PROiQ8WXX0.
SOURCEiSearch...

Gene expression databases

BgeeiQ8WXX0.
ExpressionAtlasiQ8WXX0. baseline and differential.
GenevisibleiQ8WXX0. HS.

Family and domain databases

Gene3Di3.40.50.300. 5 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026983. DHC_fam.
IPR026979. DNAH7.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013602. Dynein_heavy_dom-2.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 1 hit.
PTHR10676:SF138. PTHR10676:SF138. 1 hit.
PfamiPF12780. AAA_8. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia."
    Zhang Y.J., O'Neal W.K., Randell S.H., Blackburn K., Moyer M.B., Boucher R.C., Ostrowski L.E.
    J. Biol. Chem. 277:17906-17915(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION, INDUCTION, TISSUE SPECIFICITY, VARIANT PRO-3319.
    Tissue: Tracheobronchial epithelium.
  2. "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS CYS-545 AND PRO-3319.
    Tissue: Brain.
  3. Nagase T., Kikuno R., Yamakawa H., Ohara O.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Brain cortex.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Fetal kidney.
  6. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 2).
    Tissue: Testis.
  8. "Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes."
    Maiti A.K., Mattei M.-G., Jorissen M., Volz A., Zeigler A., Bouvagnet P.
    Eur. J. Hum. Genet. 8:923-932(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1290-1432 (ISOFORM 1), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1356-1422 (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Nasal polyp.
  9. "Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene."
    Neesen J., Koehler M.R., Kirschner R., Steinlein C., Kreutzberger J., Engel W., Schmid M.
    Gene 200:193-202(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1333-1503 (ISOFORM 1).
    Tissue: Testis.

Entry informationi

Entry nameiDYH7_HUMAN
AccessioniPrimary (citable) accession number: Q8WXX0
Secondary accession number(s): B8ZZX8
, O00433, O95492, Q4G152, Q53QX7, Q53S64, Q53T02, Q68CY5, Q8N1Z2, Q9UMS3, Q9Y2F3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: November 2, 2010
Last modified: May 11, 2016
This is version 111 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 2
    Human chromosome 2: 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.