Seroatlas · Human Serome Atlas

DNAH8

Dynein axonemal heavy chain 8

Also known as: DYH8_HUMAN, hdhc9

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

Protein identityUniProt · HPA

UniProt accession: Q96JB1
Gene: DNAH8
Ensembl: ENSG00000124721
Chromosome: 6
Canonical length: 4490 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Mid piece,Principal piece

OverviewNCBI Gene

The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

Canonical amino-acid sequenceUniProt

4490 residues, UniProt reviewed canonical sequence.

>Q96JB1|DNAH8
     1  MMKLYIDNAA PDKLKGLCIF FVRCRNDVAI NVKTIQEEAL FTVLDASKGL LNGIRDMLAN
    61  IFLPAVLATN NWGALNQSKQ GESEKHIFTE TINRYLSFLD GARISIEGTV KLKTIDNVNF
   121  SKLHTFEEVT AAASNSETVH QLEEVLMVWY KQIEQVLIES EQMRKEAGDS GPLTELEHWK
   181  RMSAKFNYII EQIKGPSCKA VINVLNVAHS KLLKNWRDLD ARITDTANES KDNVRYLYTL
   241  EKVCQPLYNH DLVSMAHGIQ NLINAIRMIH GVSRYYNTSE RMTSLFIKVT NQMVTACKAY
   301  ITDGGLNHVW DQETPVVLKK IQDCIFLFKE YQASFHKTRK LISESSGEKS FEVSEMYIFG
   361  KFEAFCKRLE KITEMITVVQ TYSTLSNSTI EGIDIMAIKF RNIYQGVKKK QYDILDPRRT
   421  EFDTDFLDFM TKINGLEVQI QAFMNSSFGK ILSSQQALQL LQRFQKLNIP CLGLEINHTI
   481  ERILQYYVAE LDATKKLYHS QKDDPPLARN MPPIAGKILW VRQLYRRISE PINYFFKNSD
   541  ILSSPDGKAV IRQYNKISYV LVEFEVVYHT AWIREISQLH YALQATLFVR HPETGKLLVN
   601  FDPKILEVVR ETKCMIKMKL DVPEQAKRLL KLESKLKADK LYLQGLLQYY DELCQEVPSV
   661  FVNLMTPKMK KVESVLRQGL TVLTWSSLTL ESFFQEVELV LDMFNQLLKK ISDLCEMHID
   721  TVLKEIAKTV LISLPESGAT KVEDMLTLNE TYTKEWADIL NHKSKHVEEA VRELISIFEQ
   781  IYEVKYTGKV GKQSEQRKHV VFGSETGEGE NNDYEANIVN EFDTHDKEDE FKKECKEVFA
   841  FFSHQLLDSL QKATRLSLDT MKRRIFVASL YGRKQSEDII SFIKSEVHLA IPNVVMIPSL
   901  DDIQQAINRM IQLTLEVSRG VAHWGQQQIR PIKSVIPSPT TTDVTHQNTG KLLKKEERSF
   961  EEAIPARKLK NFYPGVAEHK DISKLVLLLS SSVNSLRKAA HEALQDFQKY KTLWTEDRDV
  1021  KVKEFLANNP SLTEIRSEIL HYATFEQEID ELKPIIVVGA LELHTEPMKL ALSIEAKAWK
  1081  MLLCRYLNEE YKKKMSYMIA FINEYLKKLS RPIRDLDDVR FAMEALSCIR DNEIQMDMTL
  1141  GPIEEAYAIL NRFEVEVTKE ESEAVDTLRY SFNKLQSKAV SVQEDLVQVQ PKFKSNLLES
  1201  VEVFREDVIN FAEAYELEGP MVPNIPPQEA SNRLQIFQAS FDDLWRKFVT YSSGEQLFGL
  1261  PVTDYEVLHK TRKELNLLQK LYGLYDTVMS SISGYYEILW GDVDIEKINA ELLEFQNRCR
  1321  KLPKGLKDWQ AFLDLKKRID DFSESCPLLE MMTNKAMKQR HWDRISELTG TPFDVESDSF
  1381  CLRNIMEAPL LKHKDDIEDI CISAIKEKDI EAKLTQVIEN WTNQNLSFAA FKGKGELLLK
  1441  GTESGEIITL MEDSLMVLGS LLSNRYNAPF KKNIQNWVYK LSTSSDIIEE WLVVQNLWVY
  1501  LEAVFVGGDI AKQLPQEAKR FQNIDKSWIK IMQRAHENPN VINCCVGDET MGQLLPHLHE
  1561  QLEVCQKSLT GYLEKKRLLF PRFFFVSDPV LLEILGQASD SHTIQPHLPA VSDNINEVTF
  1621  HAKDYDRIMA VISREGEKIV LDNSVMAKGP VEIWLLDLLK MQMSSLHNII RSAFYQISDS
  1681  GFQLLPFLSH FPAQVGLLGI QMLWTHDSEE ALRNAKDDRK IMQVTNQKFL DILNTLISQT
  1741  THDLSKFDRV KFETLITIHV HQRDIFDDLV KMHIKSPTDF EWLKQSRFYF KEDLDQTVVS
  1801  ITDVDFIYQN EFLGCTDRLV ITPLTDRCYI TLAQALGMNM GGAPAGPAGT GKTETTKDMG
  1861  RCLGKYVVVF NCSDQMDFRG LGRIFKGLAQ SGSWGCFDEF NRIELPVLSV AAQQIYIVLT
  1921  ARKERKKQFI FSDGDCVDLN PEFGIFLTMN PGYAGRQELP ENLKIQFRTV AMMVPDRQII
  1981  MRVKLASCGF LENVILAQKF YVLYKLCEEQ LTKQVHYDFG LRNILSVLRT LGSQKRARPE
  2041  DSELSIVMRG LRDMNLSKLV DEDEPLFLSL INDLFPGLQL DSNTYAELQN AVAHQVQIEG
  2101  LINHPPWNLK LVQLYETSLV RHGLMTLGPS GSGKTTVITI LMKAQTECGR PHREMRMNPK
  2161  AITAPQMFGR LDTATNDWTD GIFSTLWRKT LKAKKGENIF LILDGPVDAI WIENLNSVLD
  2221  DNKTLTLANG DRIPMAPSCK LLFEVHNIEN ASPATVSRMG MVYISSSALS WRPILQAWLK
  2281  KRTAQEAAVF LTLYEKVFED TYTYMKLNLN PKMQLLECNY IVQSLNLLEG LIPSKEEGGV
  2341  SCVEHLHKLF VFGLMWSLGA LLELESREKL EAFLRQHESK LDLPEIPKGS NQTMYEFYVT
  2401  DYGDWEHWNK KLQPYYYPTD SIPEYSSILV PNVDNIRTNF LIDTIAKQHK AVLLTGEQGT
  2461  AKTVMVKAYL KKYDPEVQLS KSLNFSSATE PMMFQRTIES YVDKRIGSTY GPPGGRKMTV
  2521  FIDDINMPVI NEWGDQITNE IVRQMMEMEG MYSLDKPGDF TTIVDVQLIA AMIHPGGGRN
  2581  DIPQRLKRQF TVFNCTLPSN ASIDKIFGII GCGYFDPCRS FKPQICEMIV NLVSVGRVLW
  2641  QWTKVKMLPT PSKFHYIFNL RDLSRIWQGM LTIKAEECAS IPTLLSLFKH ECSRVIADRF
  2701  ITPEDEQWFN AHLTRAVEEN IGSDAASCIL PEPYFVDFLR EMPEPTGDEP EDSVFEVPKI
  2761  YELMPSFDFL AEKLQFYQRQ FNEIIRGTSL DLVFFKDAMT HLIKISRIIR TSCGNALLVG
  2821  VGGSGKQSLS RLASFIAGYQ IFQITLTRSY NVTNLTDDLK ALYKVAGADG KGITFIFTDS
  2881  EIKDEAFLEY LNNLLSSGEI SNLFARDEMD EITQGLISVM KRELPRHPPT FDNLYEYFIS
  2941  RSRKNLHVVL CFSPVGEKFR ARSLKFPGLI SGCTMDWFSR WPREALIAVA SYFLSDYNIV
  3001  CSSEIKRQVV ETMGLFHDMV SESCESYFQR YRRRAHVTPK SYLSFINGYK NIYAEKVKFI
  3061  NEQAERMNIG LDKLMEASES VAKLSQDLAV KEKELAVASI KADEVLAEVT VSAQASAKIK
  3121  NEVQEVKDKA QKIVDEIDSE KVKAESKLEA AKPALEEAEA ALNTIKPNDI ATVRKLAKPP
  3181  HLIMRIMDCV LLLFQKKIDP VTMDPEKSCC KPSWGESLKL MSATGFLWSL QQFPKDTINE
  3241  ETVELLQPYF NMDDYTFESA KKVCGNVAGL LSWTLAMAIF YGINREVLPL KANLAKQEGR
  3301  LAVANAELGK AQALLDEKQA ELDKVQAKFD AAMNEKMDLL NDADTCRKKM QAASTLIDGL
  3361  SGEKIRWTQQ SKEFKAQINR LVGDILLCTG FLSYLGPFNQ IFRNYLLKDQ WEMELRARKI
  3421  PFTENLNLIS MLVDPPTIGE WGLQGLPGDD LSIQNGIIVT KATRYPLLID PQTQGKTWIK
  3481  SKEKENDLQV TSLNHKYFRT HLEDSLSLGR PLLIEDIHEE LDPALDNVLE KNFIKSGTTF
  3541  KVKVGDKECD IMDTFKLYIT TKLPNPAFTP EINAKTSVID FTVTMKGLEN QLLRRVILTE
  3601  KQELEAERVK LLEDVTFNKR KMKELEDNLL YKLSATKGSL VDDESLIGVL RTTKQTAAEV
  3661  SEKLHVAAET EIKINAAQEE FRPAATRGSI LYFLITEMSM VNIMYQTSLA QFLKLFDQSM
  3721  ARSEKSPLPQ KRITNIIEYL TYEVFTYSVR GLYENHKFLF VLLMTLKIDL QRGTVKHREF
  3781  QALIKGGAAL DLKACPPKPY RWILDMTWLN LVELSKLPQF AEIMNQISRN EKGWKSWFDK
  3841  DAPEEEIIPD GYNDSLDTCH KLLLIRSWCP DRTVFQARKY IADSLEEKYT EPVILNLEKT
  3901  WEESDTRTPL ICFLSMGSDP TNQIDALAKK LKLECRTISM GQGQEVHARK LIQMSMQQGG
  3961  WVLLQNCHLG LEFMEELLET LITTEASDDS FRVWITTEPH DRFPITLLQT SLKFTNEPPQ
  4021  GVRAGLKRTF AGINQDLLDI SNLPMWKPML YTVAFLHSTV QERRKFGPLG WNIPYEFNSA
  4081  DFSASVQFIQ NHLDECDIKK GVSWNTVRYM IGEVQYGGRV TDDFDKRLLN CFARVWFSEK
  4141  MFEPSFCFYT GYKIPLCKTL DQYFEYIQSL PSLDNPEVFG LHPNADITYQ SNTASAVLET
  4201  ITNIQPKESG GGVGETREAI VYRLSEDMLS KLPPDYIPHE VKSRLIKMGH LNSMNIFLRQ
  4261  EIDRMQRVIS ILRSSLSDLK LAIEGTIIMS ENLRDALDNM YDARIPQLWK RVSWDSSTLG
  4321  FWFTELLERN AQFSTWIFEG RPNVFWMTGF FNPQGFLTAM RQEVTRAHKG WALDTVTIHN
  4381  EVLRQTKEEI TSPPGEGVYI YGLYMDGAAW DRRNGKLMES TPKVLFTQLP VLHIFAINST
  4441  APKDPKLYVC PIYKKPRRTD LTFITVVYLR TVLSPDHWIL RGVALLCDIK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAH8 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: 7.3 nTPM

Expression across tissuesHPA

Tissue

testis: 7.3 nTPM
epididymis: 2.4 nTPM
prostate: 2 nTPM
skin: 1.5 nTPM
spleen: 0.8 nTPM
lymph node: 0.4 nTPM

Single-cell type

late primary spermatocytes: 85 nCPM
early primary spermatocytes: 66 nCPM
undifferentiated spermatogonia: 42 nCPM
differentiating spermatogonia: 36 nCPM
early spermatids: 30 nCPM
foveolar cells: 30 nCPM

Immune cell

basophil: 2.5 nTPM
T-reg: 0.3 nTPM
memory B-cell: 0.2 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

basal ganglia: 0.4 nTPM
cerebral cortex: 0.3 nTPM
hippocampal formation: 0.3 nTPM
hypothalamus: 0.3 nTPM
medulla oblongata: 0.2 nTPM
pons: 0.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAH8.

Disease | AllUniProt

Conditions DNAH8 is implicated in, by any mechanism.

Spermatogenic failure 46 (SPGF46) MIM:619095

Disease | GeneticClinVar

160 pathogenic / likely-pathogenic of 2,775 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary ciliary dyskinesia
Spermatogenic failure 46
DNAH8-related disorder
Inherited obesity

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): 0.68
gnomAD pLI: 0
gnomAD missense Z: 1.21

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DNAH8 as an antibody target. Whether an autoantibody or antibody against DNAH8 could matter depends on whether native DNAH8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DNAH8 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 DNAH8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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