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Protein

Dynein heavy chain 1, axonemal

Gene

DNAH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript 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 bindingi1581 – 15888ATPSequence analysis
Nucleotide bindingi1862 – 18698ATPSequence analysis
Nucleotide bindingi2227 – 22348ATPSequence analysis
Nucleotide bindingi2586 – 25938ATPSequence analysis

GO - Molecular functioni

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

GO - Biological processi

  • cilium movement involved in cell motility Source: Ensembl
  • cilium or flagellum-dependent cell motility Source: UniProtKB
  • epithelial cilium movement Source: Ensembl
  • inner dynein arm assembly Source: SYSCILIA_CCNET
  • response to mechanical stimulus Source: UniProtKB
  • sperm motility 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 1, axonemal
Alternative name(s):
Axonemal beta dynein heavy chain 1
Ciliary dynein heavy chain 1
Heat shock regulated protein 1
Short name:
HSRF-1
hDHC7
Gene namesi
Name:DNAH1
Synonyms:DHC7, DNAHC1, KIAA1410
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:2940. DNAH1.

Subcellular locationi

GO - Cellular componenti

  • axonemal dynein complex Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • dynein complex Source: UniProtKB
  • inner dynein arm Source: SYSCILIA_CCNET
  • microtubule Source: UniProtKB-KW
  • sperm flagellum Source: SYSCILIA_CCNET
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

MalaCardsiDNAH1.
Orphaneti276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBiPA27394.

Polymorphism and mutation databases

BioMutaiDNAH1.
DMDMi327478598.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 43304330Dynein heavy chain 1, axonemalPRO_0000318936Add
BLAST

Proteomic databases

EPDiQ9P2D7.
PaxDbiQ9P2D7.
PRIDEiQ9P2D7.

PTM databases

iPTMnetiQ9P2D7.
PhosphoSiteiQ9P2D7.
SwissPalmiQ9P2D7.

Expressioni

Tissue specificityi

Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain.2 Publications

Gene expression databases

BgeeiQ9P2D7.
ExpressionAtlasiQ9P2D7. baseline and differential.
GenevisibleiQ9P2D7. HS.

Organism-specific databases

HPAiHPA036805.
HPA036806.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

IntActiQ9P2D7. 1 interaction.
STRINGi9606.ENSP00000401514.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 15421542StemBy similarityAdd
BLAST
Regioni1543 – 1764222AAA 1By similarityAdd
BLAST
Regioni1824 – 2057234AAA 2By similarityAdd
BLAST
Regioni2189 – 2449261AAA 3By similarityAdd
BLAST
Regioni2547 – 2799253AAA 4By similarityAdd
BLAST
Regioni2814 – 3112299StalkBy similarityAdd
BLAST
Regioni3262 – 3492231AAA 5By similarityAdd
BLAST
Regioni3705 – 3924220AAA 6By similarityAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili968 – 99831Sequence analysisAdd
BLAST
Coiled coili1216 – 123924Sequence analysisAdd
BLAST
Coiled coili2836 – 291782Sequence analysisAdd
BLAST
Coiled coili3062 – 312362Sequence analysisAdd
BLAST
Coiled coili3185 – 321127Sequence analysisAdd
BLAST
Coiled coili3433 – 350068Sequence analysisAdd
BLAST
Coiled coili4095 – 411521Sequence analysisAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi1581 – 15888GPAGTGKT motif
Motifi1631 – 16377CFDEFNR motif

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2167 – 21726Poly-Glu

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

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
HOVERGENiHBG107830.
InParanoidiQ9P2D7.
KOiK10408.
OrthoDBiEOG7BW0HH.
PhylomeDBiQ9P2D7.
TreeFamiTF316836.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR026975. DNAH1.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 3 hits.
PTHR10676:SF137. PTHR10676:SF137. 3 hits.
PfamiPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P2D7-1) [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
MEQPNSKGYS LGRTPQGPEC SSAPAVQVGT HRGLEYNPGK ILPGSDYGLG
60 70 80 90 100
NPPALDPKLP HLPLPPAPPT LSDLGQPRKS PLTGTDKKYP LMKQRGFYSD
110 120 130 140 150
ILSPGTLDQL GEVCRGPRMS QNLLRQADLD KFTPRVGSFE VPEDFQERME
160 170 180 190 200
QQCIGSTTRL LAQTDFPLQA YEPKMQVPFQ VLPGQHPRKI EIERRKQQYL
210 220 230 240 250
SLDIEQLLFS QGIDSNKLMP RHLDHQHPQT IEQGHDPIFP IYLPLKVFDN
260 270 280 290 300
EDFDCRTPRE WINMGLEPGS LDRKPVPGKA LLPTDDFLGH EDPKSQKLKY
310 320 330 340 350
KWCEVGVLDY DEEKKLYLVH KTDEKGLVRD EMGRPILNAG VTTEGRPPLQ
360 370 380 390 400
VCQYWVPRIQ LLFCAEDPCM FAQRVVQANA LRKNTEALLL YNLYVDCMPS
410 420 430 440 450
DGQHVISEQS LSKIKQWALS TPRMRKGPSV LEHLSSLARE VSLDYERSMN
460 470 480 490 500
KINFDHVVSS KPETFSYVTL PKKEEEQVPE RGLVSVPKYH FWEQKEDFTF
510 520 530 540 550
VSLLTRPEVI TALSKVRAEC NKVTAMSLFH SSLSKYSHLE EFEQIQSQTF
560 570 580 590 600
SQVQMFLKDS WISSLKVAMR SSLRDMSKGW YNLYETNWEV YLMSKLRKLM
610 620 630 640 650
ELVKYMLQDT LRFLVQDSLA SFSQFISDTC CSVLNCTDDM VWGDDLINSP
660 670 680 690 700
YRPRKNPLFI MDLVLDSSGV HYSTPLEQFE ASLLNLFDKG ILATHAVPQL
710 720 730 740 750
EKLVMEDIFI SGDPLLESVG LHEPLVEELR ATIASAVSKA MIPLQAYAKE
760 770 780 790 800
YRKYLELNNN DIASFLKTYQ TQGLLAQEVR EVVLTHLREK EILDSSLPSS
810 820 830 840 850
IIIGPFYINT DNVKQSLSKK RKALATSVLD ILAKNLHKEV DSICEEFRSI
860 870 880 890 900
SRKIYEKPNS IEELAELREW MKGIPERLVG LEERIVKVMD DYQVMDEFLY
910 920 930 940 950
NLSSDDFNDK WIASNWPSKI LGQIELVQQQ HVEDEEKFRK IQIMDQNNFQ
960 970 980 990 1000
EKLEGLQLVV AGFSIHVEIS RAHEIANEVR RVKKQLKDCQ QLAMLYNNRE
1010 1020 1030 1040 1050
RIFSLPITNY DKLSRMVKEF QPYLDLWTTA SDWLRWSESW MNDPLSAIDA
1060 1070 1080 1090 1100
EQLEKNVVEA FKTMHKCVKQ FKDMPACQEV ALDIRARIEE FKPYIPLIQG
1110 1120 1130 1140 1150
LRNPGMRIRH WETLSNQINI NVRPKANLTF ARCLEMNLQD HIESISKVAE
1160 1170 1180 1190 1200
VAGKEYAIEQ ALDKMEKEWS TILFNVLPYK ATDTYILKSP DEASQLLDDH
1210 1220 1230 1240 1250
IVMTQNMSFS PYKKPFEQRI NSWENKLKLT QEVLEEWLNC QRSWLYLEPI
1260 1270 1280 1290 1300
FSSEDINQQL PVESKRYQTM ERIWKKIMKN AYENREVINV CSDLRMLDSL
1310 1320 1330 1340 1350
RDCNKILDLV QKGLSEYLET KRSAFPRFYF LSDDELLEIL SQTKDPTAVQ
1360 1370 1380 1390 1400
PHLRKCFENI ARLLFQEDLE ITHMYSAEGE EVQLCFSIYP SSNVEDWLRE
1410 1420 1430 1440 1450
VERSMKASVH DIIEKAIRAY PTMPRTQWVL NWPGQVTIAG CQTYWTMEVA
1460 1470 1480 1490 1500
EALEAGNLRS QLFPQLCQQL SDLVALVRGK LSRMQRAVLS ALIVIEVHAK
1510 1520 1530 1540 1550
DVVSKLIQEN VVSVNDFQWI SQLRYYWTNN DLYIRAVNAE FIYGYEYLGN
1560 1570 1580 1590 1600
SGRLVITPLT DRCYLTLTGA LHLKFGGAPA GPAGTGKTET TKDLGKALAI
1610 1620 1630 1640 1650
QTVVFNCSDQ LDFMAMGKFF KGLASAGAWA CFDEFNRIDI EVLSVVAQQI
1660 1670 1680 1690 1700
TTIQKAQQQR VERFMFEGVE IPLVPSCAVF ITMNPGYAGR TELPDNLKAL
1710 1720 1730 1740 1750
FRPVAMMVPD YAMITEISLY SFGFNEASVL AKKITTTFKL SSEQLSSQDH
1760 1770 1780 1790 1800
YDFGMRAVKT VISAAGNLKR ENPSMNEELI CLRAIRDVNV PKFLQEDLKL
1810 1820 1830 1840 1850
FSGIVSDLFP TIKEEDTDYG ILDEAIREAC RNSNLKDVEG FLTKCIQLYE
1860 1870 1880 1890 1900
TTVVRHGLML VGPTGSGKST CYRVLAAAMT SLKGQPSISG GMYEAVNYYV
1910 1920 1930 1940 1950
LNPKSITMGQ LYGEFDLLTH EWTDGIFSSF IRAGAITSDT NKKWYMFDGP
1960 1970 1980 1990 2000
VDAIWIENMN TVLDDNKKLC LSSGEIIKLT EAMTMMFEVQ DLAVASPATV
2010 2020 2030 2040 2050
SRCGMVYLEP SILGLMPFIE CWLRKLPPLL KPYEEHFKAL FVSFLEESIS
2060 2070 2080 2090 2100
FVRSSVKEVI ASTNCNLTMS LLKLLDCFFK PFLPREGLKK IPSEKLSRIV
2110 2120 2130 2140 2150
ELIEPWFIFS LIWSVGATGD SSGRTSFSHW LRLKMENEQL TLLFPEEGLV
2160 2170 2180 2190 2200
FDYRLEDAGI SGTNDSEDEE EEYKQVAWVK WMDSSAPFTM VPDTNYCNII
2210 2220 2230 2240 2250
VPTMDTVQMS HLLDMLLTNK KPVLCIGPTG TGKTLTISDK LLKNLALDYI
2260 2270 2280 2290 2300
SHFLTFSART SANQTQDFID SKLDKRRKGV FGPPLGRNFI FFIDDLNMPA
2310 2320 2330 2340 2350
LETYGAQPPI ELLRQWMDHG GWYDRKIIGA FKNLVDINFV CAMGPPGGGR
2360 2370 2380 2390 2400
NTVTPRLMRH FNYLSFAEMD EVSKKRIFST ILGNWLDGLL GEKSYRERVP
2410 2420 2430 2440 2450
GAPHIAHFTE PLVEATIMVY ATITSQLLPT PAKSHYTFNL RDLSKVFQGM
2460 2470 2480 2490 2500
LMADPAKVED QVQLLRLWYH ENCRVFRDRL VNEEDRSWFD QLLKRCMEQW
2510 2520 2530 2540 2550
EVTFNKVCPF QPILYGDFMS PGSDVKSYEL ITSESKMMQV IEEYIEDYNQ
2560 2570 2580 2590 2600
INTAKLKLVL FMDAMSHICR ISRTLRQALG NALLLGVGGS GRSSLTRLAS
2610 2620 2630 2640 2650
HMAEYECFQI ELSKNYGMSE WRDDVKKVLL KAGLQNLPIT FLFSDTQIKN
2660 2670 2680 2690 2700
ESFLEDINNV LNSGDIPNLY TADEQDQIVS TMRPYIQEQG LQPTKANLMA
2710 2720 2730 2740 2750
AYTGRVRSNI HMVLCMSPIG EVFRARLRQF PSLVNCCTID WFNEWPAEAL
2760 2770 2780 2790 2800
KSVATVFLNE IPELESSQEE IQGLIQVCVY IHQSVSKKCI EYLAELTRHN
2810 2820 2830 2840 2850
YVTPKSYLEL LHIFSILIGQ KKLELKTAKN RMKSGLDKLL RTSEDVAKMQ
2860 2870 2880 2890 2900
EDLESMHPLL EEAAKDTMLT MEQIKVDTAI AEETRNSVQT EEIKANEKAK
2910 2920 2930 2940 2950
KAQAIADDAQ KDLDEALPAL DAALASLRNL NKNDVTEVRA MQRPPPGVKL
2960 2970 2980 2990 3000
VIEAVCIMKG IKPKKVPGEK PGTKVDDYWE PGKGLLQDPG HFLESLFKFD
3010 3020 3030 3040 3050
KDNIGDVVIK AIQPYIDNEE FQPATIAKVS KACTSICQWV RAMHKYHFVA
3060 3070 3080 3090 3100
KAVEPKRQAL LEAQDDLGVT QRILDEAKQR LREVEDGIAT MQAKYRECIT
3110 3120 3130 3140 3150
KKEELELKCE QCEQRLGRAG KVRTLLLQGL QAGPAQTGAR KDQGAGGSWG
3160 3170 3180 3190 3200
GCPHPLPGNP GATVGRASPR PLAQPPRAHP TGLPLQLING LSDEKVRWQE
3210 3220 3230 3240 3250
TVENLQYMLN NISGDVLVAA GFVAYLGPFT GQYRTVLYDS WVKQLRSHNV
3260 3270 3280 3290 3300
PHTSEPTLIG TLGNPVKIRS WQIAGLPNDT LSVENGVINQ FSQRWTHFID
3310 3320 3330 3340 3350
PQSQANKWIK NMEKDNGLDV FKLSDRDFLR SMENAIRFGK PCLLENVGEE
3360 3370 3380 3390 3400
LDPALEPVLL KQTYKQQGNT VLKLGDTVIP YHEDFRMYIT TKLPNPHYTP
3410 3420 3430 3440 3450
EISTKLTLIN FTLSPSGLED QLLGQVVAEE RPDLEEAKNQ LIISNAKMRQ
3460 3470 3480 3490 3500
ELKDIEDQIL YRLSSSEGNP VDDMELIKVL EASKMKAAEI QAKVRIAEQT
3510 3520 3530 3540 3550
EKDIDLTRME YIPVAIRTQI LFFCVSDLAN VDPMYQYSLE WFLNIFLSGI
3560 3570 3580 3590 3600
ANSERADNLK KRISNINRYL TYSLYSNVCR SLFEKHKLMF AFLLCVRIMM
3610 3620 3630 3640 3650
NEGKINQSEW RYLLSGGSIS IMTENPAPDW LSDRAWRDIL ALSNLPTFSS
3660 3670 3680 3690 3700
FSSDFVKHLS EFRVIFDSLE PHREPLPGIW DQYLDQFQKL LVLRCLRGDK
3710 3720 3730 3740 3750
VTNAMQDFVA TNLEPRFIEP QTANLSVVFK DSNSTTPLIF VLSPGTDPAA
3760 3770 3780 3790 3800
DLYKFAEEMK FSKKLSAISL GQGQGPRAEA MMRSSIERGK WVFFQNCHLA
3810 3820 3830 3840 3850
PSWMPALERL IEHINPDKVH RDFRLWLTSL PSNKFPVSIL QNGSKMTIEP
3860 3870 3880 3890 3900
PRGVRANLLK SYSSLGEDFL NSCHKVMEFK SLLLSLCLFH GNALERHKFG
3910 3920 3930 3940 3950
PLGFNIPYEF TDGDLRICIS QLKMFLDEYD DIPYKVLKYT AGEINYGGRV
3960 3970 3980 3990 4000
TDDWDRRCIM NILEDFYNPD VLSPEHSYSA SGIYHQIPPT YDLHGYLSYI
4010 4020 4030 4040 4050
KSLPLNDMPE IFGLHDNANI TFAQNETFAL LGTIIQLQPK SSSAGSQGRE
4060 4070 4080 4090 4100
EIVEDVTQNI LLKVPEPINL QWVMAKYPVL YEESMNTVLV QEVIRYNRLL
4110 4120 4130 4140 4150
QVITQTLQDL LKALKGLVVM SSQLELMAAS LYNNTVPELW SAKAYPSLKP
4160 4170 4180 4190 4200
LSSWVMDLLQ RLDFLQAWIQ DGIPAVFWIS GFFFPQAFLT GTLQNFARKF
4210 4220 4230 4240 4250
VISIDTISFD FKVMFEAPSE LTQRPQVGCY IHGLFLEGAR WDPEAFQLAE
4260 4270 4280 4290 4300
SQPKELYTEM AVIWLLPTPN RKAQDQDFYL CPIYKTLTRA GTLSTTGHST
4310 4320 4330
NYVIAVEIPT HQPQRHWIKR GVALICALDY
Length:4,330
Mass (Da):493,953
Last modified:April 5, 2011 - v4
Checksum:iD533F392534D2BE5
GO
Isoform 2 (identifier: Q9P2D7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4214-4261: MFEAPSELTQ...QPKELYTEMA → PAGIQRPSSW...TFTCAPSTRH
     4262-4330: Missing.

Note: No experimental confirmation available.
Show »
Length:4,261
Mass (Da):485,922
Checksum:i35A80A1D30710D69
GO
Isoform 3 (identifier: Q9P2D7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1161-1205: ALDKMEKEWS...LLDDHIVMTQ → VGSHQRAQPL...PIPGVMRPRG
     1206-4330: Missing.

Note: No experimental confirmation available.
Show »
Length:1,205
Mass (Da):138,339
Checksum:i77CF435CC0474BD3
GO
Isoform 4 (identifier: Q9P2D7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3122-3186: Missing.

Note: No experimental confirmation available.
Show »
Length:4,265
Mass (Da):487,478
Checksum:i9E329DE11464F3C9
GO
Isoform 5 (identifier: Q9P2D7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3161-3164: GATV → RCHS
     3165-4330: Missing.

Note: No experimental confirmation available.
Show »
Length:3,164
Mass (Da):360,959
Checksum:iC618E9F6B77DBCAA
GO

Sequence cautioni

The sequence BAA92648.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB14671.1 differs from that shown. Reason: Frameshift at position 4190. Curated
The sequence BAB84956.2 differs from that shown.Wrong choice of CDS.Curated
The sequence CAB06058.1 differs from that shown. Reason: Frameshift at position 1595. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1545 – 15451Y → F in CAA10556 (PubMed:11175280).Curated
Sequence conflicti1610 – 16101Q → L in CAB06058 (PubMed:9373155).Curated
Sequence conflicti1630 – 16301A → G in AAC50702 (PubMed:8812413).Curated
Sequence conflicti1647 – 16471A → S in CAB46445 (PubMed:11175280).Curated
Sequence conflicti1647 – 16471A → S in AAB82761 (PubMed:9256245).Curated
Sequence conflicti1677 – 16771C → Y in CAB06058 (PubMed:9373155).Curated
Sequence conflicti1681 – 16811I → T in AAB82761 (PubMed:9256245).Curated
Sequence conflicti3324 – 33241S → G in BAB14671 (PubMed:14702039).Curated
Sequence conflicti3369 – 33691N → S in BAB14671 (PubMed:14702039).Curated
Sequence conflicti3551 – 35511A → V in BAB14671 (PubMed:14702039).Curated
Sequence conflicti3554 – 35541E → V in BAB14671 (PubMed:14702039).Curated
Sequence conflicti3675 – 36751P → L in BAB14671 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti205 – 2051E → D.
Corresponds to variant rs10460963 [ dbSNP | Ensembl ].
VAR_038912
Natural varianti441 – 4411V → L.
Corresponds to variant rs13060192 [ dbSNP | Ensembl ].
VAR_038913
Natural varianti1502 – 15021V → M.
Corresponds to variant rs17052095 [ dbSNP | Ensembl ].
VAR_038914
Natural varianti1663 – 16631R → C.
Corresponds to variant rs17052097 [ dbSNP | Ensembl ].
VAR_038915
Natural varianti2384 – 23841N → S.
Corresponds to variant rs56002041 [ dbSNP | Ensembl ].
VAR_062176
Natural varianti3897 – 38971H → R.6 Publications
Corresponds to variant rs365048 [ dbSNP | Ensembl ].
VAR_064924

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1161 – 120545ALDKM…IVMTQ → VGSHQRAQPLQPGPAGQPDL LLWQPQPLGRMTVISPIPGV MRPRG in isoform 3. 1 PublicationVSP_031305Add
BLAST
Alternative sequencei1206 – 43303125Missing in isoform 3. 1 PublicationVSP_031306Add
BLAST
Alternative sequencei3122 – 318665Missing in isoform 4. 1 PublicationVSP_036162Add
BLAST
Alternative sequencei3161 – 31644GATV → RCHS in isoform 5. 1 PublicationVSP_036163
Alternative sequencei3165 – 43301166Missing in isoform 5. 1 PublicationVSP_036164Add
BLAST
Alternative sequencei4214 – 426148MFEAP…YTEMA → PAGIQRPSSWLSLSPRSCTQ RWPLSGSCQHPTARPRTRTF TCAPSTRH in isoform 2. 2 PublicationsVSP_031307Add
BLAST
Alternative sequencei4262 – 433069Missing in isoform 2. 2 PublicationsVSP_031308Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037831 mRNA. Translation: BAA92648.3. Different initiation.
AK023766 mRNA. Translation: BAB14671.1. Sequence problems.
AK125990 mRNA. Translation: BAC86379.1.
AB290163 mRNA. Translation: BAG06717.1.
AJ132083 mRNA. Translation: CAA10556.1.
AJ132094 Genomic DNA. Translation: CAB46445.1.
U61738 mRNA. Translation: AAC50702.1.
U83571 Genomic DNA. Translation: AAB82761.1.
Z83804 mRNA. Translation: CAB06058.1. Frameshift.
AY221994 mRNA. Translation: AAO43053.1.
AK074130 mRNA. Translation: BAB84956.2. Sequence problems.
AL117428 mRNA. Translation: CAB55917.1.
CCDSiCCDS46842.1. [Q9P2D7-4]
PIRiT17227.
RefSeqiNP_056327.4. NM_015512.4.
UniGeneiHs.655469.

Genome annotation databases

EnsembliENST00000420323; ENSP00000401514; ENSG00000114841.
GeneIDi25981.
KEGGihsa:25981.
UCSCiuc011bef.3. human. [Q9P2D7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB037831 mRNA. Translation: BAA92648.3. Different initiation.
AK023766 mRNA. Translation: BAB14671.1. Sequence problems.
AK125990 mRNA. Translation: BAC86379.1.
AB290163 mRNA. Translation: BAG06717.1.
AJ132083 mRNA. Translation: CAA10556.1.
AJ132094 Genomic DNA. Translation: CAB46445.1.
U61738 mRNA. Translation: AAC50702.1.
U83571 Genomic DNA. Translation: AAB82761.1.
Z83804 mRNA. Translation: CAB06058.1. Frameshift.
AY221994 mRNA. Translation: AAO43053.1.
AK074130 mRNA. Translation: BAB84956.2. Sequence problems.
AL117428 mRNA. Translation: CAB55917.1.
CCDSiCCDS46842.1. [Q9P2D7-4]
PIRiT17227.
RefSeqiNP_056327.4. NM_015512.4.
UniGeneiHs.655469.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9P2D7. 1 interaction.
STRINGi9606.ENSP00000401514.

PTM databases

iPTMnetiQ9P2D7.
PhosphoSiteiQ9P2D7.
SwissPalmiQ9P2D7.

Polymorphism and mutation databases

BioMutaiDNAH1.
DMDMi327478598.

Proteomic databases

EPDiQ9P2D7.
PaxDbiQ9P2D7.
PRIDEiQ9P2D7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420323; ENSP00000401514; ENSG00000114841.
GeneIDi25981.
KEGGihsa:25981.
UCSCiuc011bef.3. human. [Q9P2D7-1]

Organism-specific databases

CTDi25981.
GeneCardsiDNAH1.
HGNCiHGNC:2940. DNAH1.
HPAiHPA036805.
HPA036806.
MalaCardsiDNAH1.
MIMi603332. gene.
neXtProtiNX_Q9P2D7.
Orphaneti276234. Non-syndromic male infertility due to sperm motility disorder.
PharmGKBiPA27394.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595. Eukaryota.
COG5245. LUCA.
HOVERGENiHBG107830.
InParanoidiQ9P2D7.
KOiK10408.
OrthoDBiEOG7BW0HH.
PhylomeDBiQ9P2D7.
TreeFamiTF316836.

Miscellaneous databases

ChiTaRSiDNAH1. human.
GenomeRNAii25981.
PROiQ9P2D7.
SOURCEiSearch...

Gene expression databases

BgeeiQ9P2D7.
ExpressionAtlasiQ9P2D7. baseline and differential.
GenevisibleiQ9P2D7. HS.

Family and domain databases

Gene3Di3.40.50.300. 4 hits.
InterProiIPR011704. ATPase_dyneun-rel_AAA.
IPR026983. DHC_fam.
IPR026975. DNAH1.
IPR024743. Dynein_HC_stalk.
IPR024317. Dynein_heavy_chain_D4_dom.
IPR004273. Dynein_heavy_dom.
IPR013602. Dynein_heavy_dom-2.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR10676. PTHR10676. 3 hits.
PTHR10676:SF137. PTHR10676:SF137. 3 hits.
PfamiPF07728. AAA_5. 1 hit.
PF12780. AAA_8. 1 hit.
PF08393. DHC_N2. 1 hit.
PF03028. Dynein_heavy. 1 hit.
PF12777. MT. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 5 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT ARG-3897.
    Tissue: Brain.
  2. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2805-4330 (ISOFORM 5), VARIANT ARG-3897.
    Tissue: Placenta and Testis.
  3. "Multiplex amplification and cloning of 5'-ends of cDNA by ligase-free recombination: preparation of full-length cDNA clones encoding motor proteins."
    Yamakawa H., Kikuno R.F., Nagase T., Ohara O.
    Submitted (JAN-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-3897.
    Tissue: Brain.
  4. "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 1543-1685, TISSUE SPECIFICITY.
    Tissue: Nasal polyp.
  5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1582-1636.
    Tissue: Lung.
  6. "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment."
    Chapelin C., Duriez B., Magnino F., Goossens M., Escudier E., Amselem S.
    FEBS Lett. 412:325-330(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1594-1682, TISSUE SPECIFICITY.
  7. "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 1586-1686.
    Tissue: Testis.
  8. "Molecular cloning of heat shock regulated-1 (XLHSRF-1)."
    Liu Y., Xiao X., Zhang H., Yuan C.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2298-4311 (ISOFORM 2), VARIANT ARG-3897.
  9. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
    Jikuya H., Takano J., Nomura N., Kikuno R., Nagase T., Ohara O.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2805-4311 (ISOFORM 2), VARIANT ARG-3897.
    Tissue: Spleen.
  10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3740-4330, VARIANT ARG-3897.
    Tissue: Testis.

Entry informationi

Entry nameiDYH1_HUMAN
AccessioniPrimary (citable) accession number: Q9P2D7
Secondary accession number(s): B0I1R6
, O00436, O15435, O95491, Q6ZU48, Q86YK7, Q8TEJ4, Q92863, Q9H8E6, Q9UFW6, Q9Y4Z7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: April 5, 2011
Last modified: June 8, 2016
This is version 113 of the entry and version 4 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 3
    Human chromosome 3: 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.