Details for: DNAH1
Associated with
Other Information
Genular Protein ID: 2983350293
Symbol: DYH1_HUMAN
Name: Axonemal beta dynein heavy chain 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 10718198
Title: 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.
PubMed ID: 10718198
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16641997
Title: The DNA sequence, annotation and analysis of human chromosome 3.
PubMed ID: 16641997
DOI: 10.1038/nature04728
PubMed ID: 11175280
Title: Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes.
PubMed ID: 11175280
PubMed ID: 8812413
Title: Multiple mouse chromosomal loci for dynein-based motility.
PubMed ID: 8812413
PubMed ID: 9373155
Title: Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene.
PubMed ID: 9373155
PubMed ID: 9256245
Title: Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.
PubMed ID: 9256245
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 24360805
Title: Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
PubMed ID: 24360805
PubMed ID: 25927852
Title: Variation in DNAH1 may contribute to primary ciliary dyskinesia.
PubMed ID: 25927852
PubMed ID: 27798045
Title: Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
PubMed ID: 27798045
PubMed ID: 28552195
Title: Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella.
PubMed ID: 28552195
PubMed ID: 29449551
Title: Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
PubMed ID: 29449551
Sequence Information:
- Length: 4265
- Mass: 487498
- Checksum: 43D6B138A5DAA487
- Sequence:
MEQPNSKGYS LGRTPQGPEC SSAPAVQVGT HRGLEYNPGK ILPGSDYGLG NPPALDPKLP HLPLPPAPPT LSDLGQPRKS PLTGTDKKYP LMKQRGFYSD ILSPGTLDQL GEVCRGPRMS QNLLRQADLD KFTPRVGSFE VPEDFQERME QQCIGSTTRL LAQTDFPLQA YEPKMQVPFQ VLPGQHPRKI EIERRKQQYL SLDIEQLLFS QGIDSNKLMP RHLDHQHPQT IEQGHDPIFP IYLPLKVFDN EDFDCRTPRE WINMGLEPGS LDRKPVPGKA LLPTDDFLGH EDPKSQKLKY KWCEVGVLDY DEEKKLYLVH KTDEKGLVRD EMGRPILNAG VTTEGRPPLQ VCQYWVPRIQ LLFCAEDPCM FAQRVVQANA LRKNTEALLL YNLYVDCMPS DGQHVISEQS LSKIKQWALS TPRMRKGPSV LEHLSSLARE VSLDYERSMN KINFDHVVSS KPETFSYVTL PKKEEEQVPE RGLVSVPKYH FWEQKEDFTF VSLLTRPEVI TALSKVRAEC NKVTAMSLFH SSLSKYSHLE EFEQIQSQTF SQVQMFLKDS WISSLKVAMR SSLRDMSKGW YNLYETNWEV YLMSKLRKLM ELVKYMLQDT LRFLVQDSLA SFSQFISDTC CSVLNCTDDM VWGDDLINSP YRPRKNPLFI MDLVLDSSGV HYSTPLEQFE ASLLNLFDKG ILATHAVPQL EKLVMEDIFI SGDPLLESVG LHEPLVEELR ATIASAVSKA MIPLQAYAKE YRKYLELNNN DIASFLKTYQ TQGLLAQEVR EVVLTHLREK EILDSSLPSS IIIGPFYINT DNVKQSLSKK RKALATSVLD ILAKNLHKEV DSICEEFRSI SRKIYEKPNS IEELAELREW MKGIPERLVG LEERIVKVMD DYQVMDEFLY NLSSDDFNDK WIASNWPSKI LGQIELVQQQ HVEDEEKFRK IQIMDQNNFQ EKLEGLQLVV AGFSIHVEIS RAHEIANEVR RVKKQLKDCQ QLAMLYNNRE RIFSLPITNY DKLSRMVKEF QPYLDLWTTA SDWLRWSESW MNDPLSAIDA EQLEKNVVEA FKTMHKCVKQ FKDMPACQEV ALDIRARIEE FKPYIPLIQG LRNPGMRIRH WETLSNQINI NVRPKANLTF ARCLEMNLQD HIESISKVAE VAGKEYAIEQ ALDKMEKEWS TILFNVLPYK ATDTYILKSP DEASQLLDDH IVMTQNMSFS PYKKPFEQRI NSWENKLKLT QEVLEEWLNC QRSWLYLEPI FSSEDINQQL PVESKRYQTM ERIWKKIMKN AYENREVINV CSDLRMLDSL RDCNKILDLV QKGLSEYLET KRSAFPRFYF LSDDELLEIL SQTKDPTAVQ PHLRKCFENI ARLLFQEDLE ITHMYSAEGE EVQLCFSIYP SSNVEDWLRE VERSMKASVH DIIEKAIRAY PTMPRTQWVL NWPGQVTIAG CQTYWTMEVA EALEAGNLRS QLFPQLCQQL SDLVALVRGK LSRMQRAVLS ALIVIEVHAK DVVSKLIQEN VVSVNDFQWI SQLRYYWTNN DLYIRAVNAE FIYGYEYLGN SGRLVITPLT DRCYLTLTGA LHLKFGGAPA GPAGTGKTET TKDLGKALAI QTVVFNCSDQ LDFMAMGKFF KGLASAGAWA CFDEFNRIDI EVLSVVAQQI TTIQKAQQQR VERFMFEGVE IPLVPSCAVF ITMNPGYAGR TELPDNLKAL FRPVAMMVPD YAMITEISLY SFGFNEASVL AKKITTTFKL SSEQLSSQDH YDFGMRAVKT VISAAGNLKR ENPSMNEELI CLRAIRDVNV PKFLQEDLKL FSGIVSDLFP TIKEEDTDYG ILDEAIREAC RNSNLKDVEG FLTKCIQLYE TTVVRHGLML VGPTGSGKST CYRVLAAAMT SLKGQPSISG GMYEAVNYYV LNPKSITMGQ LYGEFDLLTH EWTDGIFSSF IRAGAITSDT NKKWYMFDGP VDAIWIENMN TVLDDNKKLC LSSGEIIKLT EAMTMMFEVQ DLAVASPATV SRCGMVYLEP SILGLMPFIE CWLRKLPPLL KPYEEHFKAL FVSFLEESIS FVRSSVKEVI ASTNCNLTMS LLKLLDCFFK PFLPREGLKK IPSEKLSRIV ELIEPWFIFS LIWSVGATGD SSGRTSFSHW LRLKMENEQL TLLFPEEGLV FDYRLEDAGI SGTNDSEDEE EEYKQVAWVK WMDSSAPFTM VPDTNYCNII VPTMDTVQMS HLLDMLLTNK KPVLCIGPTG TGKTLTISDK LLKNLALDYI SHFLTFSART SANQTQDFID SKLDKRRKGV FGPPLGRNFI FFIDDLNMPA LETYGAQPPI ELLRQWMDHG GWYDRKIIGA FKNLVDINFV CAMGPPGGGR NTVTPRLMRH FNYLSFAEMD EVSKKRIFST ILGNWLDGLL GEKSYRERVP GAPHIAHFTE PLVEATIMVY ATITSQLLPT PAKSHYTFNL RDLSKVFQGM LMADPAKVED QVQLLRLWYH ENCRVFRDRL VNEEDRSWFD QLLKRCMEQW EVTFNKVCPF QPILYGDFMS PGSDVKSYEL ITSESKMMQV IEEYIEDYNQ INTAKLKLVL FMDAMSHICR ISRTLRQALG NALLLGVGGS GRSSLTRLAS HMAEYECFQI ELSKNYGMSE WRDDVKKVLL KAGLQNLPIT FLFSDTQIKN ESFLEDINNV LNSGDIPNLY TADEQDQIVS TMRPYIQEQG LQPTKANLMA AYTGRVRSNI HMVLCMSPIG EVFRARLRQF PSLVNCCTID WFNEWPAEAL KSVATVFLNE IPELESSQEE IQGLIQVCVY IHQSVSKKCI EYLAELTRHN YVTPKSYLEL LHIFSILIGQ KKLELKTAKN RMKSGLDKLL RTSEDVAKMQ EDLESMHPLL EEAAKDTMLT MEQIKVDTAI AEETRNSVQT EEIKANEKAK KAQAIADDAQ KDLDEALPAL DAALASLRNL NKNDVTEVRA MQRPPPGVKL VIEAVCIMKG IKPKKVPGEK PGTKVDDYWE PGKGLLQDPG HFLESLFKFD KDNIGDVVIK AIQPYIDNEE FQPATIAKVS KACTSICQWV RAMHKYHFVA KAVEPKRQAL LEAQDDLGVT QRILDEAKQR LREVEDGIAT MQAKYRECIT KKEELELKCE QCEQRLGRAG KLINGLSDEK VRWQETVENL QYMLNNISGD VLVAAGFVAY LGPFTGQYRT VLYDSWVKQL RSHNVPHTSE PTLIGTLGNP VKIRSWQIAG LPNDTLSVEN GVINQFSQRW THFIDPQSQA NKWIKNMEKD NGLDVFKLSD RDFLRSMENA IRFGKPCLLE NVGEELDPAL EPVLLKQTYK QQGNTVLKLG DTVIPYHEDF RMYITTKLPN PHYTPEISTK LTLINFTLSP SGLEDQLLGQ VVAEERPDLE EAKNQLIISN AKMRQELKDI EDQILYRLSS SEGNPVDDME LIKVLEASKM KAAEIQAKVR IAEQTEKDID LTRMEYIPVA IRTQILFFCV SDLANVDPMY QYSLEWFLNI FLSGIANSER ADNLKKRISN INRYLTYSLY SNVCRSLFEK HKLMFAFLLC VRIMMNEGKI NQSEWRYLLS GGSISIMTEN PAPDWLSDRA WRDILALSNL PTFSSFSSDF VKHLSEFRVI FDSLEPHREP LPGIWDQYLD QFQKLLVLRC LRGDKVTNAM QDFVATNLEP RFIEPQTANL SVVFKDSNST TPLIFVLSPG TDPAADLYKF AEEMKFSKKL SAISLGQGQG PRAEAMMRSS IERGKWVFFQ NCHLAPSWMP ALERLIEHIN PDKVHRDFRL WLTSLPSNKF PVSILQNGSK MTIEPPRGVR ANLLKSYSSL GEDFLNSCHK VMEFKSLLLS LCLFHGNALE RRKFGPLGFN IPYEFTDGDL RICISQLKMF LDEYDDIPYK VLKYTAGEIN YGGRVTDDWD RRCIMNILED FYNPDVLSPE HSYSASGIYH QIPPTYDLHG YLSYIKSLPL NDMPEIFGLH DNANITFAQN ETFALLGTII QLQPKSSSAG SQGREEIVED VTQNILLKVP EPINLQWVMA KYPVLYEESM NTVLVQEVIR YNRLLQVITQ TLQDLLKALK GLVVMSSQLE LMAASLYNNT VPELWSAKAY PSLKPLSSWV MDLLQRLDFL QAWIQDGIPA VFWISGFFFP QAFLTGTLQN FARKFVISID TISFDFKVMF EAPSELTQRP QVGCYIHGLF LEGARWDPEA FQLAESQPKE LYTEMAVIWL LPTPNRKAQD QDFYLCPIYK TLTRAGTLST TGHSTNYVIA VEIPTHQPQR HWIKRGVALI CALDY
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.