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Protein

Dynein heavy chain 1, axonemal

Gene

DNAH1

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

Functioni

Force generating protein of cilia required for sperm flagellum motility. 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. Required in spermatozoa for the formation of the inner dynein arms and biogenesis of the axoneme (PubMed:24360805).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi1581 – 1588ATPSequence analysis8
Nucleotide bindingi1862 – 1869ATPSequence analysis8
Nucleotide bindingi2227 – 2234ATPSequence analysis8
Nucleotide bindingi2586 – 2593ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

  • cilium-dependent cell motility Source: UniProtKB
  • cilium movement Source: GO_Central
  • flagellated sperm motility Source: UniProtKB
  • inner dynein arm assembly Source: SYSCILIA_CCNET
  • sperm axoneme assembly Source: UniProtKB

Keywordsi

Molecular functionMotor protein
LigandATP-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

EuPathDBiHostDB:ENSG00000114841.17
HGNCiHGNC:2940 DNAH1
MIMi603332 gene
neXtProtiNX_Q9P2D7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Spermatogenic failure 18 (SPGF18)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. SPGF18 patients present with primary infertility and multiple morphological abnormalities of sperm flagella that result in impaired sperm mobility. Abnormalities include absent, short, coiled, bent, and irregular flagella. SPGF18 inheritance is autosomal recessive.
See also OMIM:617576
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080888870 – 4265Missing in SPGF18. 1 PublicationAdd BLAST3396
Natural variantiVAR_0808891036 – 4265Missing in SPGF18. 1 PublicationAdd BLAST3230
Natural variantiVAR_0795111287V → G in SPGF18. 1 Publication1
Natural variantiVAR_0795121293D → N in SPGF18. 1 Publication1
Natural variantiVAR_0808901372T → M in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0808911582 – 1584Missing in SPGF18; unknown pathological significance. 1 Publication3
Natural variantiVAR_0808921702 – 4265Missing in SPGF18. 1 PublicationAdd BLAST2564
Natural variantiVAR_0808931955 – 4265Missing in SPGF18. 1 PublicationAdd BLAST2311
Natural variantiVAR_0808942071L → R in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0808952150V → M in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0808962466 – 4265Missing in SPGF18. 1 PublicationAdd BLAST1800
Natural variantiVAR_0808972622 – 4265Missing in SPGF18. 1 PublicationAdd BLAST1644
Natural variantiVAR_0808983229R → C in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0808993738 – 4065Missing in SPGF18. 1 PublicationAdd BLAST328
Natural variantiVAR_0809004096R → L in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0809014133R → C in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0809024174A → T in SPGF18; unknown pathological significance. 1 Publication1
Ciliary dyskinesia, primary, 37 (CILD37)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive.
See also OMIM:617577
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0795101154K → Q in CILD37. 1 Publication1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi25981
MalaCardsiDNAH1
MIMi617576 phenotype
617577 phenotype
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA27394

Polymorphism and mutation databases

BioMutaiDNAH1
DMDMi327478598

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003189361 – 4265Dynein heavy chain 1, axonemalAdd BLAST4265

Proteomic databases

EPDiQ9P2D7
PaxDbiQ9P2D7
PeptideAtlasiQ9P2D7
PRIDEiQ9P2D7
ProteomicsDBi83782
83783
83784 [Q9P2D7-3]
83785 [Q9P2D7-4]
83786

PTM databases

iPTMnetiQ9P2D7
PhosphoSitePlusiQ9P2D7
SwissPalmiQ9P2D7

Expressioni

Tissue specificityi

Expressed primarily in trachea and testis, 2 tissues containing axonemal structures. Also expressed in brain (PubMed:11175280).3 Publications

Gene expression databases

BgeeiENSG00000114841 Expressed in 128 organ(s), highest expression level in right uterine tube
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.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117465, 1 interactor
IntActiQ9P2D7, 2 interactors
MINTiQ9P2D7
STRINGi9606.ENSP00000401514

Structurei

3D structure databases

SMRiQ9P2D7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 1542StemBy similarityAdd BLAST1542
Regioni1543 – 1764AAA 1By similarityAdd BLAST222
Regioni1824 – 2057AAA 2By similarityAdd BLAST234
Regioni2189 – 2449AAA 3By similarityAdd BLAST261
Regioni2547 – 2799AAA 4By similarityAdd BLAST253
Regioni2814 – 3112StalkBy similarityAdd BLAST299
Regioni3197 – 3427AAA 5By similarityAdd BLAST231
Regioni3640 – 3859AAA 6By similarityAdd BLAST220

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili3074 – 3122Sequence analysisAdd BLAST49

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1581 – 1588GPAGTGKT motif8
Motifi1631 – 1637CFDEFNR motif7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2167 – 2172Poly-Glu6

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
OrthoDBiEOG091G00FO
PhylomeDBiQ9P2D7
TreeFamiTF316836

Family and domain databases

InterProiView protein in InterPro
IPR035699 AAA_6
IPR011704 ATPase_dyneun-rel_AAA
IPR035706 DHC_D5
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
PANTHERiPTHR10676 PTHR10676, 1 hit
PTHR10676:SF358 PTHR10676:SF358, 1 hit
PfamiView protein in Pfam
PF07728 AAA_5, 1 hit
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF08393 DHC_N2, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit
SUPFAMiSSF52540 SSF52540, 5 hits

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: Q9P2D7-4) [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 KLINGLSDEK VRWQETVENL QYMLNNISGD
3160 3170 3180 3190 3200
VLVAAGFVAY LGPFTGQYRT VLYDSWVKQL RSHNVPHTSE PTLIGTLGNP
3210 3220 3230 3240 3250
VKIRSWQIAG LPNDTLSVEN GVINQFSQRW THFIDPQSQA NKWIKNMEKD
3260 3270 3280 3290 3300
NGLDVFKLSD RDFLRSMENA IRFGKPCLLE NVGEELDPAL EPVLLKQTYK
3310 3320 3330 3340 3350
QQGNTVLKLG DTVIPYHEDF RMYITTKLPN PHYTPEISTK LTLINFTLSP
3360 3370 3380 3390 3400
SGLEDQLLGQ VVAEERPDLE EAKNQLIISN AKMRQELKDI EDQILYRLSS
3410 3420 3430 3440 3450
SEGNPVDDME LIKVLEASKM KAAEIQAKVR IAEQTEKDID LTRMEYIPVA
3460 3470 3480 3490 3500
IRTQILFFCV SDLANVDPMY QYSLEWFLNI FLSGIANSER ADNLKKRISN
3510 3520 3530 3540 3550
INRYLTYSLY SNVCRSLFEK HKLMFAFLLC VRIMMNEGKI NQSEWRYLLS
3560 3570 3580 3590 3600
GGSISIMTEN PAPDWLSDRA WRDILALSNL PTFSSFSSDF VKHLSEFRVI
3610 3620 3630 3640 3650
FDSLEPHREP LPGIWDQYLD QFQKLLVLRC LRGDKVTNAM QDFVATNLEP
3660 3670 3680 3690 3700
RFIEPQTANL SVVFKDSNST TPLIFVLSPG TDPAADLYKF AEEMKFSKKL
3710 3720 3730 3740 3750
SAISLGQGQG PRAEAMMRSS IERGKWVFFQ NCHLAPSWMP ALERLIEHIN
3760 3770 3780 3790 3800
PDKVHRDFRL WLTSLPSNKF PVSILQNGSK MTIEPPRGVR ANLLKSYSSL
3810 3820 3830 3840 3850
GEDFLNSCHK VMEFKSLLLS LCLFHGNALE RHKFGPLGFN IPYEFTDGDL
3860 3870 3880 3890 3900
RICISQLKMF LDEYDDIPYK VLKYTAGEIN YGGRVTDDWD RRCIMNILED
3910 3920 3930 3940 3950
FYNPDVLSPE HSYSASGIYH QIPPTYDLHG YLSYIKSLPL NDMPEIFGLH
3960 3970 3980 3990 4000
DNANITFAQN ETFALLGTII QLQPKSSSAG SQGREEIVED VTQNILLKVP
4010 4020 4030 4040 4050
EPINLQWVMA KYPVLYEESM NTVLVQEVIR YNRLLQVITQ TLQDLLKALK
4060 4070 4080 4090 4100
GLVVMSSQLE LMAASLYNNT VPELWSAKAY PSLKPLSSWV MDLLQRLDFL
4110 4120 4130 4140 4150
QAWIQDGIPA VFWISGFFFP QAFLTGTLQN FARKFVISID TISFDFKVMF
4160 4170 4180 4190 4200
EAPSELTQRP QVGCYIHGLF LEGARWDPEA FQLAESQPKE LYTEMAVIWL
4210 4220 4230 4240 4250
LPTPNRKAQD QDFYLCPIYK TLTRAGTLST TGHSTNYVIA VEIPTHQPQR
4260
HWIKRGVALI CALDY
Note: No experimental confirmation available.
Length:4,265
Mass (Da):487,478
Last modified:September 12, 2018 - v5
Checksum:i9E329DE11464F3C9
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
     1206-4265: Missing.

Note: No experimental confirmation available.
Show »
Length:1,205
Mass (Da):138,339
Checksum:i77CF435CC0474BD3
GO
Isoform 6 (identifier: Q9P2D7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3122-3165: LINGLSDEKV...GFVAYLGPFT → VRTLLLQGLQ...LPGNPRCHSG
     3166-4265: Missing.

Note: No experimental confirmation available.
Show »
Length:3,165
Mass (Da):361,016
Checksum:i883618E9F6B77DBC
GO
Isoform 7 (identifier: Q9P2D7-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4149-4196: MFEAPSELTQ...QPKELYTEMA → PAGIQRPSSW...TFTCAPSTRH
     4197-4265: Missing.

Note: No experimental confirmation available.
Show »
Length:4,196
Mass (Da):479,447
Checksum:i7D2F615510E2158E
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C563H7C563_HUMAN
Dynein heavy chain 1, axonemal
DNAH1
928Annotation score:
H7C506H7C506_HUMAN
Dynein heavy chain 1, axonemal
DNAH1
193Annotation score:

Sequence cautioni

The sequence AAO43053 differs from that shown. Reason: Frameshift at position 3122.Curated
The sequence BAA92648 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB14671 differs from that shown. Reason: Frameshift at position 4124.Curated
The sequence BAB14671 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB84956 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAG06717 differs from that shown. Reason: Frameshift at position 3161.Curated
Isoform 6 : The sequence BAG06717 differs from that shown. Reason: Frameshift at position 3161.
The sequence CAB06058 differs from that shown. Reason: Frameshift at position 1595.Curated
The sequence CAB06058 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1545Y → F in CAA10556 (PubMed:11175280).Curated1
Sequence conflicti1610Q → L in CAB06058 (PubMed:9373155).Curated1
Sequence conflicti1630A → G in AAC50702 (PubMed:8812413).Curated1
Sequence conflicti1647A → S in AAB82761 (PubMed:9256245).Curated1
Sequence conflicti1677C → Y in CAB06058 (PubMed:9373155).Curated1
Sequence conflicti1681I → T in AAB82761 (PubMed:9256245).Curated1
Sequence conflicti3259S → G in BAB14671 (PubMed:14702039).Curated1
Sequence conflicti3304N → S in BAB14671 (PubMed:14702039).Curated1
Sequence conflicti3486A → V in BAB14671 (PubMed:14702039).Curated1
Sequence conflicti3489E → V in BAB14671 (PubMed:14702039).Curated1
Sequence conflicti3610P → L in BAB14671 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038912205E → D. Corresponds to variant dbSNP:rs10460963Ensembl.1
Natural variantiVAR_038913441V → L. Corresponds to variant dbSNP:rs13060192EnsemblClinVar.1
Natural variantiVAR_080888870 – 4265Missing in SPGF18. 1 PublicationAdd BLAST3396
Natural variantiVAR_0808891036 – 4265Missing in SPGF18. 1 PublicationAdd BLAST3230
Natural variantiVAR_0795101154K → Q in CILD37. 1 Publication1
Natural variantiVAR_0795111287V → G in SPGF18. 1 Publication1
Natural variantiVAR_0795121293D → N in SPGF18. 1 Publication1
Natural variantiVAR_0808901372T → M in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0389141502V → M. Corresponds to variant dbSNP:rs17052095EnsemblClinVar.1
Natural variantiVAR_0808911582 – 1584Missing in SPGF18; unknown pathological significance. 1 Publication3
Natural variantiVAR_0389151663R → C. Corresponds to variant dbSNP:rs17052097EnsemblClinVar.1
Natural variantiVAR_0808921702 – 4265Missing in SPGF18. 1 PublicationAdd BLAST2564
Natural variantiVAR_0808931955 – 4265Missing in SPGF18. 1 PublicationAdd BLAST2311
Natural variantiVAR_0808942071L → R in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0808952150V → M in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0621762384N → S. Corresponds to variant dbSNP:rs56002041EnsemblClinVar.1
Natural variantiVAR_0808962466 – 4265Missing in SPGF18. 1 PublicationAdd BLAST1800
Natural variantiVAR_0808972622 – 4265Missing in SPGF18. 1 PublicationAdd BLAST1644
Natural variantiVAR_0808983229R → C in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0808993738 – 4065Missing in SPGF18. 1 PublicationAdd BLAST328
Natural variantiVAR_0649243832H → R3 PublicationsCorresponds to variant dbSNP:rs365048Ensembl.1
Natural variantiVAR_0809004096R → L in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0809014133R → C in SPGF18; unknown pathological significance. 1 Publication1
Natural variantiVAR_0809024174A → T in SPGF18; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0313051161 – 1205ALDKM…IVMTQ → VGSHQRAQPLQPGPAGQPDL LLWQPQPLGRMTVISPIPGV MRPRG in isoform 3. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_0313061206 – 4265Missing in isoform 3. 1 PublicationAdd BLAST3060
Alternative sequenceiVSP_0597973122 – 3165LINGL…LGPFT → VRTLLLQGLQAGPAQTGARK DQGAGGSWGGCPHPLPGNPR CHSG in isoform 6. Add BLAST44
Alternative sequenceiVSP_0597983166 – 4265Missing in isoform 6. Add BLAST1100
Alternative sequenceiVSP_0597994149 – 4196MFEAP…YTEMA → PAGIQRPSSWLSLSPRSCTQ RWPLSGSCQHPTARPRTRTF TCAPSTRH in isoform 7. Add BLAST48
Alternative sequenceiVSP_0598004197 – 4265Missing in isoform 7. Add BLAST69

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.
AK074130 mRNA Translation: BAB84956.2 Different initiation.
AK125990 mRNA Translation: BAC86379.1
AB290163 mRNA Translation: BAG06717.1 Frameshift.
AC092045 Genomic DNA No translation available.
KF459588 Genomic DNA No translation available.
AJ132083 mRNA Translation: CAA10556.1
AJ132094 Genomic DNA Translation: CAB46445.1
U61738 mRNA Translation: AAC50702.1
Z83804 mRNA Translation: CAB06058.1 Sequence problems.
U83571 Genomic DNA Translation: AAB82761.1
AY221994 mRNA Translation: AAO43053.1 Frameshift.
AL117428 mRNA Translation: CAB55917.1
CCDSiCCDS46842.1 [Q9P2D7-4]
PIRiT17227
RefSeqiNP_056327.4, NM_015512.4
XP_016861619.1, XM_017006130.1
UniGeneiHs.655469

Genome annotation databases

EnsembliENST00000420323; ENSP00000401514; ENSG00000114841
GeneIDi25981
KEGGihsa:25981
UCSCiuc011bef.3 human [Q9P2D7-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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.
AK074130 mRNA Translation: BAB84956.2 Different initiation.
AK125990 mRNA Translation: BAC86379.1
AB290163 mRNA Translation: BAG06717.1 Frameshift.
AC092045 Genomic DNA No translation available.
KF459588 Genomic DNA No translation available.
AJ132083 mRNA Translation: CAA10556.1
AJ132094 Genomic DNA Translation: CAB46445.1
U61738 mRNA Translation: AAC50702.1
Z83804 mRNA Translation: CAB06058.1 Sequence problems.
U83571 Genomic DNA Translation: AAB82761.1
AY221994 mRNA Translation: AAO43053.1 Frameshift.
AL117428 mRNA Translation: CAB55917.1
CCDSiCCDS46842.1 [Q9P2D7-4]
PIRiT17227
RefSeqiNP_056327.4, NM_015512.4
XP_016861619.1, XM_017006130.1
UniGeneiHs.655469

3D structure databases

SMRiQ9P2D7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117465, 1 interactor
IntActiQ9P2D7, 2 interactors
MINTiQ9P2D7
STRINGi9606.ENSP00000401514

PTM databases

iPTMnetiQ9P2D7
PhosphoSitePlusiQ9P2D7
SwissPalmiQ9P2D7

Polymorphism and mutation databases

BioMutaiDNAH1
DMDMi327478598

Proteomic databases

EPDiQ9P2D7
PaxDbiQ9P2D7
PeptideAtlasiQ9P2D7
PRIDEiQ9P2D7
ProteomicsDBi83782
83783
83784 [Q9P2D7-3]
83785 [Q9P2D7-4]
83786

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000420323; ENSP00000401514; ENSG00000114841
GeneIDi25981
KEGGihsa:25981
UCSCiuc011bef.3 human [Q9P2D7-4]

Organism-specific databases

CTDi25981
DisGeNETi25981
EuPathDBiHostDB:ENSG00000114841.17
GeneCardsiDNAH1
HGNCiHGNC:2940 DNAH1
HPAiHPA036805
HPA036806
MalaCardsiDNAH1
MIMi603332 gene
617576 phenotype
617577 phenotype
neXtProtiNX_Q9P2D7
Orphaneti276234 Non-syndromic male infertility due to sperm motility disorder
PharmGKBiPA27394
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3595 Eukaryota
COG5245 LUCA
HOVERGENiHBG107830
InParanoidiQ9P2D7
KOiK10408
OrthoDBiEOG091G00FO
PhylomeDBiQ9P2D7
TreeFamiTF316836

Miscellaneous databases

ChiTaRSiDNAH1 human
GenomeRNAii25981
PROiPR:Q9P2D7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114841 Expressed in 128 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9P2D7 baseline and differential
GenevisibleiQ9P2D7 HS

Family and domain databases

InterProiView protein in InterPro
IPR035699 AAA_6
IPR011704 ATPase_dyneun-rel_AAA
IPR035706 DHC_D5
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
PANTHERiPTHR10676 PTHR10676, 1 hit
PTHR10676:SF358 PTHR10676:SF358, 1 hit
PfamiView protein in Pfam
PF07728 AAA_5, 1 hit
PF12774 AAA_6, 1 hit
PF12780 AAA_8, 1 hit
PF12781 AAA_9, 1 hit
PF08393 DHC_N2, 1 hit
PF03028 Dynein_heavy, 1 hit
PF12777 MT, 1 hit
SUPFAMiSSF52540 SSF52540, 5 hits
ProtoNetiSearch...

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 historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: September 12, 2018
Last modified: October 10, 2018
This is version 132 of the entry and version 5 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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Main funding by: National Institutes of Health

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