Seroatlas · Human Serome Atlas

DNAH6

Dynein axonemal heavy chain 6

Also known as: Dnahc6, DNHL1, DYH6_HUMAN, FLJ37357, HL-2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9C0G6
Gene: DNAH6
Ensembl: ENSG00000115423
Chromosome: 2
Canonical length: 4158 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Plasma membrane,Primary cilium tip,Centriolar satellite,Basal body,Calyx,Connecting piece,Mid piece

OverviewNCBI Gene

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

4158 residues, UniProt reviewed canonical sequence.

>Q9C0G6|DNAH6
     1  MTFRATDSEF DLTNIEEYAE NSALSRLNNI KAKQRVSYVT STENESDTQI LTFRHITKAQ
    61  EKTRKRQQPI KLEPLPVLKV YQDHKQPEYI HEQNRFQLMT AGIIKRPVSI AKKSFATSST
   121  QFLEHQDAVK KMQIHRPYVE VFSPSPPKLP HTGIGKRGLF GTRSSAYPKY TFHDREEVVK
   181  ANIRDPLQII KIIRENEHLG FLYMIPAVPR SSIEYDTYNL KVVSYENINK NDYYTISQRA
   241  VTHIYNEDIE FIEIDRWEQE YLYHRELTKI PIFSLFRKWK AFSVWRKNVR SKKITGCQKS
   301  LQKNLFIVNP HLRPALLKIN ELCYHLSFMG LCYIEKCHTY TLQEFKAAQV IRLAEVTERL
   361  GEFRNEAKYV VRRACRFALR AAGFVPDDCA FGPFEDYHKV QSSGSFINTP HELPTYGDSE
   421  KMTYTEQASK RHYCMRLTCF IRLNDYLIEN TMHILTVNAV NSLLNHLTDK LKRTPSADVI
   481  QKWITEEKPE VPDKKGTLMV EKQEEDESLI PMFLTELMLT VQSLLFEPSL EDFLDGILGA
   541  VNHCQNTVLS VPNLVPDSYF DAFTSPYINN KLEGKTCGTG PSLAAVFEDD KNFHTIISQI
   601  KETIQAAFES ARIYAATFEK FQIFFKENES LDLQALKLQE PDINFFSEQL EKYHKQHKDA
   661  VALRPTRNVG LLLIDTRLLR EKLIPSPLRC LEVLNFMLPR QSKKKVDAII FEAQDAEYKL
   721  EFVPTTTTEY VHSLLFLDEI QERIESLEDE GNIVTQMYKL MEQYQVPTPP EDFAVFATMK
   781  PSIVAVRNAI DKSVGDRESS IKQFCVHLGS DLEELNNEVN EVKLQAQDPQ ILDISADQDK
   841  IRLILNNLQS VLADLQKRAF QYKSYQKNFK VEVSKFEALE EVSAELKLKQ LLWDSFSEWD
   901  KLQQEWLKSK FDCLDPEVLN GQVSKYAKFV TQLEKGLPPN SVVPQLKYKV EKMKEKLPVI
   961  IDLRNPTLKA RHWAAIEQTV DATLVDAEIP LTLERLSQLH VFDFGQEIQD ISGQASGEAA
  1021  LEAILKKVED SWKTTEFVIL PHRDSKDVFI LGGTDDIQVL LDDSTINVAT LASSRYLGPL
  1081  KTRVDEWQKQ LALFNQTLEE WLTCQRNWLY LESIFNAPDI QRQLPAEAKM FLQVDKSWKE
  1141  IMRKVNRLPN ALRAATQPGL LETFQNNNAL LDQIQKCLEA YLESKRVIFP RFYFLSNDEL
  1201  LEILAQTRNP QAVQPHLRKC FDSISKLEFA LMPPAEGKIP GIDGEPEKVY TNDILAMLSP
  1261  EGERVSLGKG LKARGNVEEW LGKVEEAMFT SLRRLCKAAI ADYQGKLRTD WVVAGHPSQV
  1321  ILTVSQIMWC RDLTECLETE HSNHIQALKN FEKVNFERLN ALAAIVQGSL PKLHRNILTA
  1381  LITIDVHARD IVTELVQSKV ETVESFDWQR QLRYYWDIDL DNCVARMALS QYTYGYEYLG
  1441  ACPRLVITPL TDRCYLCLMG ALQLDLGGAP AGPAGTGKTE TTKDLAKALA IQCVVFNCSD
  1501  GLDYKMMGRF FSGLAQSGAW CCFDEFNRID IEVLSVIAQQ LITIRNAKAA KLSRFMFEGR
  1561  EIKLVMTCAA FITMNPGYAG RTELPDNLKA LFRPFAMMVP NYALIAEVIL YSEGFESSKI
  1621  LARKMTQMYK LCSEQLSQQD HYDFGMRAVK SVLVMAGSLK RENPDLNEDV VLIRALQDSN
  1681  LPKFLTDDAL LFSGIISDLF PGVQIPEHDY GILQSTIVDV MNRQNLQPEM CMVRKVIQFY
  1741  ETMLVRHGVM LVGPTGGGKT TVYRILAETL GNLQKLGIEN SFYQAVKTYV LNPKSITMGE
  1801  LYGEVNNLTL EWKDGLMALS VRAAVNDTSE DHKWIISDGP VDALWIENMN TVLDDNKMLC
  1861  LANSERIKLT PQIHMLFEVQ DLRVASPATV SRCGMVFVDP EELKWMPYVK TWMKGISKKL
  1921  TEETQEYILN LFQRYVDEGL HFINKKCSQA IPQVDISKVT TLCCLLESLI LGKDGVNLAM
  1981  EQTKLNTILC QTFVFCYLWS LGGNLTENYY DSFDTFIRTQ FDDNPDARLP NSGDLWSIHM
  2041  DFDTKRLDPW ERIIPTFKYN RDVPFFEMLV PTTDTVRYGY LMEKLLAVKH SVLFTGITGV
  2101  GKSVIAKGLL NKIQESAGYV PVYLNFSAQT SSARTQEIIE SKLERKRKNI LGAPGNKRIV
  2161  IFVDDLNMPR LDRYGSQPPI ELLRQYQDFG GFYDRNKLFW KEIQDVTIIS ACAPPGGGRN
  2221  PVTPRFIRHF SMLCLPMPSE HSLKQIFQAI LNGFLSDFPP AVKQTASSIV EASVEIYNKM
  2281  SVDLLPTPAK SHYVFNLRDL SKCVQGILQC DPGTIREEIQ IFRLFCHECQ RVFHDRLINN
  2341  EDKHYFHVIL TEMANKHFGI AIDLEYFLNK PIIFGDFIKF GADKADRIYD DMPDIEKTAN
  2401  VLQDYLDDYN LTNPKEVKLV FFQDAIEHVS RIARMIRQER GNALLVGVGG TGKQSLTRLA
  2461  AHICGYKCLQ IELSRGYNYD SFHEDLRKLY KMAGVEDKNM VFLFTDTQIV VEEFLEDINN
  2521  ILNSGEVPNL FEKDELEQVL AATRPRAKEV GISEGNRDEV FQYFISKVRQ KLHIVLCMSP
  2581  VGEAFRSRCR MFPSLVNCCT IDWFVQWPRE ALLSVSKTFF SQVDAGNEEL KEKLPLMCVN
  2641  VHLSVSSMAE RYYNELRRRY YTTPTSYLEL INLYLSMLSE KRKQIISARD RVKNGLTKLL
  2701  ETNILVDKMK LDLSALEPVL LAKSEDVEAL MEKLAVDQES ADQVRNTVQE DEATAKVKAE
  2761  ETQAIADDAQ RDLDEALPAL DAANKALDSL DKADISEIRV FTKPPDLVMT VMEAISILLN
  2821  AKPDWPSAKQ LLGDSNFLKR LLEYDKENIK PQILAKLQKY INNPDFVPEK VEKVSKACKS
  2881  MCMWVRAMDL YSRVVKVVEP KRQKLRAAQA ELDITMATLR EKQALLRQVE DQIQALQDEY
  2941  DKGVNEKESL AKTMALTKAR LVRAGKLTAA LEDEQVRWEE SIQKFEEEIS NITGNVFIAA
  3001  ACVAYYGAFT AQYRQSLIEC WIQDCQSLEI PIDPSFSLIN ILGDPYEIRQ WNTDGLPRDL
  3061  ISTENGILVT QGRRWPLMID PQDQANRWIR NKESKSGLKI IKLTDSNFLR ILENSIRLGL
  3121  PVLLEELKET LDPALEPILL KQIFISGGRL LIRLGDSDID YDKNFRFYMT TKMPNPHYLP
  3181  EVCIKVTIIN FTVTKSGLED QLLSDVVRLE KPRLEEQRIK LIVRINTDKN QLKTIEEKIL
  3241  RMLFTSEGNI LDNEELIDTL QDSKITSGAI KTRLEEAEST EQMINVAREK YRPVATQGSV
  3301  MYFVIASLSE IDPMYQYSLK YFKQLFNTTI ETSVKTENLQ QRLDVLLEQT LLTAYVNVSR
  3361  GLFEQHKLIY SFMLCVEMMR QQGTLSDAEW NFFLRGSAGL EKERPPKPEA PWLPTATWFA
  3421  CCDLEESFPV FHGLTQNILS HPISIRLGSF ETYINPQKWE GYSKMKHEDK HMRQEKEAAH
  3481  QDPWSAGLSS FHKLILIKCC KEEKVVFALT DFVIENLGKQ FIETPPVDLP TLYQDMSCNT
  3541  PLVFILSTGS DPMGAFQRFA RESGYSERVQ SISLGQGQGP IAEKMVKDAM KSGNWVFLQN
  3601  CHLAVSWMLA MEELIKTFTD PDSAIKDTFR LFLSSMPSNT FPVTVLQNSV KVTNEPPKGL
  3661  RANIRRAFTE MTPSFFEENI LGKKWRQIIF GICFFHAIIQ ERKKFGPLGW NICYEFNDSD
  3721  RECALLNLKL YCKEGKIPWD ALIYITGEIT YGGRVTDSWD QRCLRTILKR FFSPETLEED
  3781  YKYSESGIYF APMADSLQEF KDYIENLPLI DDPEIFGMHE NANLVFQYKE TSTLINTILE
  3841  VQPRSSTGGE GKSNDEIVQE LVASVQTRVP EKLEMEGASE SLFVKDLQGR LNSLTTVLGQ
  3901  EVDRFNNLLK LIHTSLETLN KAIAGFVVMS EEMEKVYNSF LNNQVPALWS NTAYPSLKPL
  3961  GSWVKDLILR TSFVDLWLKR GQPKSYWISG FFFPQGFLTG TLQNHARKYN LPIDELSFKY
  4021  SVIPTYRDQA AVIEAAKTVQ FGQELPMDME LPSPEDGVLV HGMFMDASRW DDKEMVIEDA
  4081  LPGQMNPVLP VVHFEPQQNY KPSPTLYHCP LYKTGARAGT LSTTGHSTNF VVTVLLPSKR
  4141  SKDYWIAKGS ALLCQLSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAH6 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: 5.1 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 5.1 nTPM
choroid plexus: 5 nTPM
testis: 2.5 nTPM
basal ganglia: 1.5 nTPM
parathyroid gland: 1.5 nTPM
pituitary gland: 1.5 nTPM

Single-cell type

ependymal cells: 1,672 nCPM
respiratory ciliated cells: 1,138 nCPM
choroid plexus epithelial cells: 1,074 nCPM
fallopian tube ciliated cells: 649 nCPM
endometrial ciliated cells: 538 nCPM
epididymal efferent duct ciliated cells: 371 nCPM

Immune cell

naive CD4 T-cell: 0.9 nTPM
naive CD8 T-cell: 0.3 nTPM
total PBMC: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM

Brain region

choroid plexus: 29 nTPM
midbrain: 14 nTPM
medulla oblongata: 13 nTPM
spinal cord: 9.2 nTPM
basal ganglia: 8.7 nTPM
cerebral cortex: 7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAH6.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 769 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ciliary dyskinesia, primary, 45

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): 0.57
gnomAD pLI: 0
gnomAD missense Z: 3.55
DepMap mean gene effect: 0.11
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 movement involved in cell motility

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNAH6 as an antibody target. Whether an autoantibody or antibody against DNAH6 could matter depends on whether native DNAH6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAH6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DNAH6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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