DNAH1

Protein identityUniProt · HPA

UniProt accession

Q9P2D7

Gene

DNAH1

Ensembl

ENSG00000114841

Chromosome

3

Canonical length

4265 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

4265 residues, UniProt reviewed canonical sequence.

>Q9P2D7|DNAH1
     1  MEQPNSKGYS LGRTPQGPEC SSAPAVQVGT HRGLEYNPGK ILPGSDYGLG NPPALDPKLP
    61  HLPLPPAPPT LSDLGQPRKS PLTGTDKKYP LMKQRGFYSD ILSPGTLDQL GEVCRGPRMS
   121  QNLLRQADLD KFTPRVGSFE VPEDFQERME QQCIGSTTRL LAQTDFPLQA YEPKMQVPFQ
   181  VLPGQHPRKI EIERRKQQYL SLDIEQLLFS QGIDSNKLMP RHLDHQHPQT IEQGHDPIFP
   241  IYLPLKVFDN EDFDCRTPRE WINMGLEPGS LDRKPVPGKA LLPTDDFLGH EDPKSQKLKY
   301  KWCEVGVLDY DEEKKLYLVH KTDEKGLVRD EMGRPILNAG VTTEGRPPLQ VCQYWVPRIQ
   361  LLFCAEDPCM FAQRVVQANA LRKNTEALLL YNLYVDCMPS DGQHVISEQS LSKIKQWALS
   421  TPRMRKGPSV LEHLSSLARE VSLDYERSMN KINFDHVVSS KPETFSYVTL PKKEEEQVPE
   481  RGLVSVPKYH FWEQKEDFTF VSLLTRPEVI TALSKVRAEC NKVTAMSLFH SSLSKYSHLE
   541  EFEQIQSQTF SQVQMFLKDS WISSLKVAMR SSLRDMSKGW YNLYETNWEV YLMSKLRKLM
   601  ELVKYMLQDT LRFLVQDSLA SFSQFISDTC CSVLNCTDDM VWGDDLINSP YRPRKNPLFI
   661  MDLVLDSSGV HYSTPLEQFE ASLLNLFDKG ILATHAVPQL EKLVMEDIFI SGDPLLESVG
   721  LHEPLVEELR ATIASAVSKA MIPLQAYAKE YRKYLELNNN DIASFLKTYQ TQGLLAQEVR
   781  EVVLTHLREK EILDSSLPSS IIIGPFYINT DNVKQSLSKK RKALATSVLD ILAKNLHKEV
   841  DSICEEFRSI SRKIYEKPNS IEELAELREW MKGIPERLVG LEERIVKVMD DYQVMDEFLY
   901  NLSSDDFNDK WIASNWPSKI LGQIELVQQQ HVEDEEKFRK IQIMDQNNFQ EKLEGLQLVV
   961  AGFSIHVEIS RAHEIANEVR RVKKQLKDCQ QLAMLYNNRE RIFSLPITNY DKLSRMVKEF
  1021  QPYLDLWTTA SDWLRWSESW MNDPLSAIDA EQLEKNVVEA FKTMHKCVKQ FKDMPACQEV
  1081  ALDIRARIEE FKPYIPLIQG LRNPGMRIRH WETLSNQINI NVRPKANLTF ARCLEMNLQD
  1141  HIESISKVAE VAGKEYAIEQ ALDKMEKEWS TILFNVLPYK ATDTYILKSP DEASQLLDDH
  1201  IVMTQNMSFS PYKKPFEQRI NSWENKLKLT QEVLEEWLNC QRSWLYLEPI FSSEDINQQL
  1261  PVESKRYQTM ERIWKKIMKN AYENREVINV CSDLRMLDSL RDCNKILDLV QKGLSEYLET
  1321  KRSAFPRFYF LSDDELLEIL SQTKDPTAVQ PHLRKCFENI ARLLFQEDLE ITHMYSAEGE
  1381  EVQLCFSIYP SSNVEDWLRE VERSMKASVH DIIEKAIRAY PTMPRTQWVL NWPGQVTIAG
  1441  CQTYWTMEVA EALEAGNLRS QLFPQLCQQL SDLVALVRGK LSRMQRAVLS ALIVIEVHAK
  1501  DVVSKLIQEN VVSVNDFQWI SQLRYYWTNN DLYIRAVNAE FIYGYEYLGN SGRLVITPLT
  1561  DRCYLTLTGA LHLKFGGAPA GPAGTGKTET TKDLGKALAI QTVVFNCSDQ LDFMAMGKFF
  1621  KGLASAGAWA CFDEFNRIDI EVLSVVAQQI TTIQKAQQQR VERFMFEGVE IPLVPSCAVF
  1681  ITMNPGYAGR TELPDNLKAL FRPVAMMVPD YAMITEISLY SFGFNEASVL AKKITTTFKL
  1741  SSEQLSSQDH YDFGMRAVKT VISAAGNLKR ENPSMNEELI CLRAIRDVNV PKFLQEDLKL
  1801  FSGIVSDLFP TIKEEDTDYG ILDEAIREAC RNSNLKDVEG FLTKCIQLYE TTVVRHGLML
  1861  VGPTGSGKST CYRVLAAAMT SLKGQPSISG GMYEAVNYYV LNPKSITMGQ LYGEFDLLTH
  1921  EWTDGIFSSF IRAGAITSDT NKKWYMFDGP VDAIWIENMN TVLDDNKKLC LSSGEIIKLT
  1981  EAMTMMFEVQ DLAVASPATV SRCGMVYLEP SILGLMPFIE CWLRKLPPLL KPYEEHFKAL
  2041  FVSFLEESIS FVRSSVKEVI ASTNCNLTMS LLKLLDCFFK PFLPREGLKK IPSEKLSRIV
  2101  ELIEPWFIFS LIWSVGATGD SSGRTSFSHW LRLKMENEQL TLLFPEEGLV FDYRLEDAGI
  2161  SGTNDSEDEE EEYKQVAWVK WMDSSAPFTM VPDTNYCNII VPTMDTVQMS HLLDMLLTNK
  2221  KPVLCIGPTG TGKTLTISDK LLKNLALDYI SHFLTFSART SANQTQDFID SKLDKRRKGV
  2281  FGPPLGRNFI FFIDDLNMPA LETYGAQPPI ELLRQWMDHG GWYDRKIIGA FKNLVDINFV
  2341  CAMGPPGGGR NTVTPRLMRH FNYLSFAEMD EVSKKRIFST ILGNWLDGLL GEKSYRERVP
  2401  GAPHIAHFTE PLVEATIMVY ATITSQLLPT PAKSHYTFNL RDLSKVFQGM LMADPAKVED
  2461  QVQLLRLWYH ENCRVFRDRL VNEEDRSWFD QLLKRCMEQW EVTFNKVCPF QPILYGDFMS
  2521  PGSDVKSYEL ITSESKMMQV IEEYIEDYNQ INTAKLKLVL FMDAMSHICR ISRTLRQALG
  2581  NALLLGVGGS GRSSLTRLAS HMAEYECFQI ELSKNYGMSE WRDDVKKVLL KAGLQNLPIT
  2641  FLFSDTQIKN ESFLEDINNV LNSGDIPNLY TADEQDQIVS TMRPYIQEQG LQPTKANLMA
  2701  AYTGRVRSNI HMVLCMSPIG EVFRARLRQF PSLVNCCTID WFNEWPAEAL KSVATVFLNE
  2761  IPELESSQEE IQGLIQVCVY IHQSVSKKCI EYLAELTRHN YVTPKSYLEL LHIFSILIGQ
  2821  KKLELKTAKN RMKSGLDKLL RTSEDVAKMQ EDLESMHPLL EEAAKDTMLT MEQIKVDTAI
  2881  AEETRNSVQT EEIKANEKAK KAQAIADDAQ KDLDEALPAL DAALASLRNL NKNDVTEVRA
  2941  MQRPPPGVKL VIEAVCIMKG IKPKKVPGEK PGTKVDDYWE PGKGLLQDPG HFLESLFKFD
  3001  KDNIGDVVIK AIQPYIDNEE FQPATIAKVS KACTSICQWV RAMHKYHFVA KAVEPKRQAL
  3061  LEAQDDLGVT QRILDEAKQR LREVEDGIAT MQAKYRECIT KKEELELKCE QCEQRLGRAG
  3121  KLINGLSDEK VRWQETVENL QYMLNNISGD VLVAAGFVAY LGPFTGQYRT VLYDSWVKQL
  3181  RSHNVPHTSE PTLIGTLGNP VKIRSWQIAG LPNDTLSVEN GVINQFSQRW THFIDPQSQA
  3241  NKWIKNMEKD NGLDVFKLSD RDFLRSMENA IRFGKPCLLE NVGEELDPAL EPVLLKQTYK
  3301  QQGNTVLKLG DTVIPYHEDF RMYITTKLPN PHYTPEISTK LTLINFTLSP SGLEDQLLGQ
  3361  VVAEERPDLE EAKNQLIISN AKMRQELKDI EDQILYRLSS SEGNPVDDME LIKVLEASKM
  3421  KAAEIQAKVR IAEQTEKDID LTRMEYIPVA IRTQILFFCV SDLANVDPMY QYSLEWFLNI
  3481  FLSGIANSER ADNLKKRISN INRYLTYSLY SNVCRSLFEK HKLMFAFLLC VRIMMNEGKI
  3541  NQSEWRYLLS GGSISIMTEN PAPDWLSDRA WRDILALSNL PTFSSFSSDF VKHLSEFRVI
  3601  FDSLEPHREP LPGIWDQYLD QFQKLLVLRC LRGDKVTNAM QDFVATNLEP RFIEPQTANL
  3661  SVVFKDSNST TPLIFVLSPG TDPAADLYKF AEEMKFSKKL SAISLGQGQG PRAEAMMRSS
  3721  IERGKWVFFQ NCHLAPSWMP ALERLIEHIN PDKVHRDFRL WLTSLPSNKF PVSILQNGSK
  3781  MTIEPPRGVR ANLLKSYSSL GEDFLNSCHK VMEFKSLLLS LCLFHGNALE RRKFGPLGFN
  3841  IPYEFTDGDL RICISQLKMF LDEYDDIPYK VLKYTAGEIN YGGRVTDDWD RRCIMNILED
  3901  FYNPDVLSPE HSYSASGIYH QIPPTYDLHG YLSYIKSLPL NDMPEIFGLH DNANITFAQN
  3961  ETFALLGTII QLQPKSSSAG SQGREEIVED VTQNILLKVP EPINLQWVMA KYPVLYEESM
  4021  NTVLVQEVIR YNRLLQVITQ TLQDLLKALK GLVVMSSQLE LMAASLYNNT VPELWSAKAY
  4081  PSLKPLSSWV MDLLQRLDFL QAWIQDGIPA VFWISGFFFP QAFLTGTLQN FARKFVISID
  4141  TISFDFKVMF EAPSELTQRP QVGCYIHGLF LEGARWDPEA FQLAESQPKE LYTEMAVIWL
  4201  LPTPNRKAQD QDFYLCPIYK TLTRAGTLST TGHSTNYVIA VEIPTHQPQR HWIKRGVALI
  4261  CALDY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAH1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0

Highest tissue expression

6.1 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAH1.

Disease | AllUniProt

Conditions DNAH1 is implicated in, by any mechanism.

• Spermatogenic failure 18 (SPGF18) MIM:617576
• Ciliary dyskinesia, primary, 37 (CILD37) MIM:617577

Disease | GeneticClinVar

138 pathogenic / likely-pathogenic of 2,965 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ciliary dyskinesia, primary, 37
• Spermatogenic failure 18
• DNAH1-related disorder
• Primary ciliary dyskinesia
• Ovarian serous cystadenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.48

gnomAD pLI

0

gnomAD missense Z

1.21

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cilium-dependent cell motility
• epithelial cilium movement involved in extracellular fluid movement
• flagellated sperm motility
• inner dynein arm assembly
• sperm axoneme assembly

Molecular functions

• ATP binding
• dynein intermediate chain binding
• dynein light intermediate chain binding
• microtubule motor activity
• minus-end-directed microtubule motor activity

Cellular components

• axonemal dynein complex
• axoneme
• dynein complex
• extracellular region
• inner dynein arm
• microtubule
• sperm flagellum

Protein domainsUniProt · Pfam · InterPro

• Dynein heavy chain, D6 P-loop domain
• Dynein heavy chain, linker
• Dynein heavy chain, AAA module D4
• Dynein heavy chain, coiled coil stalk
• Dynein heavy chain
• P-loop containing nucleoside triphosphate hydrolase
• Dynein heavy chain, hydrolytic ATP-binding dynein motor region
• Dynein heavy chain, ATP-binding dynein motor region
• Dynein heavy chain, C-terminal domain
• Dynein heavy chain, AAA 5 extension domain
• Dynein heavy chain 3, AAA+ lid domain
• Dynein heavy chain, AAA lid domain
• Dynein heavy chain, AAA lid domain superfamily
• Dynein heavy chain, domain 2, N-terminal
• Dynein heavy chain, linker, subdomain 3
• Dynein heavy chain, AAA1 domain, small subdomain
• Dynein heavy chain, C-terminal domain, barrel region
• Dynein heavy chain region D6 P-loop domain
• Dynein heavy chain, N-terminal region 2
• Hydrolytic ATP binding site of dynein motor region
• P-loop containing dynein motor region
• Microtubule-binding stalk of dynein motor
• P-loop containing dynein motor region D4
• ATP-binding dynein motor region
• Dynein heavy chain AAA lid domain
• AAA+ lid domain
• Dynein heavy chain AAA lid domain
• Dynein heavy chain C-terminal domain

KeywordsUniProt

• ATP-binding
• Cell projection
• Ciliopathy
• Cilium
• Coiled coil
• Cytoplasm
• Cytoskeleton
• Dynein
• Flagellum
• Kartagener syndrome
• Microtubule
• Motor protein
• Nucleotide-binding
• Primary ciliary dyskinesia

InteractionsUniProt · HPA

Protein binding partners of DNAH1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAH12