DNAH17
Dynein axonemal heavy chain 17
Also known as: DNAHL1, DNEL2, DYH17_HUMAN, FLJ40457
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UFH2
- Gene
- DNAH17
- Ensembl
- ENSG00000187775
- Chromosome
- 17
- Canonical length
- 4462 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Mid piece,Principal piece,End piece
OverviewNCBI Gene
Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
Canonical amino-acid sequenceUniProt
4462 residues, UniProt reviewed canonical sequence.
>Q9UFH2|DNAH17
1 MTMAPDVRLE YLEEVASIVL KFKPDKWSKL IGAEENVALF TEFFEKPDVQ VLVLTLNAAG
61 MIIPCLGFPQ SLKSKGVYFI KTKSENINKD NYRARLLYGD ISPTPVDQLI AVVEEVLSSL
121 LNQSENMAGW PQVVSEDIVK QVHRLKNEMF VMSGKIKGKT LLPIPEHLGS LDGTLESMER
181 IPSSLDNLLL HAIETTIIDW SHQIRDVLSK DSAQALLDGL HPLPQVEFEF WDTRLLNLKC
241 IHEQLNRPKV NKIVEILEKA KSCYWPALQN VYTNVTEGLK EANDIVLYLK PLRILLEEME
301 QADFTMLPTF IAKVLDTICF IWATSEYYNT PARIIVILQE FCNQIIEMTR TFLSPEEVLK
361 GLQGEIEEVL SGISLAVNVL KELYQTYDFC CVNMKLFFKD KEPVPWEFPS SLAFSRINSF
421 FQRIQTIEEL YKTAIEFLKL EKIELGGVRG NLLGSLVTRI YDEVFELVKV FADCKYDPLD
481 PGDSNFDRDY ADFEIKIQDL DRRLATIFCQ GFDDCSCIKS SAKLLYMCGG LMERPLILAE
541 VAPRYSVMLE LFDAELDNAK ILYDAQMAAS EEGNIPLIHK NMPPVAGQLK WSLELQERLE
601 VSMKHLKHVE HPVMSGAEAK LTYQKYDEMM ELLRCHREKI YQQWVAGVDQ DCHFNLGQPL
661 ILRDAASNLI HVNFSKALVA VLREVKYLNF QQQKEIPDSA ESLFSENETF RKFVGNLELI
721 VGWYNEIKTI VKAVEFLLIK SELEAIDVKL LSAETTLFWN GEGVFQYIQE VREILHNLQN
781 RMQKAKQNIE GISQAMKDWS ANPLFERKDN KKEALLDLDG RIANLNKRYA AVRDAGVKIQ
841 AMVAENAELF RADTLSLPWK DYVIYIDDMV LDEFDQFIRK SLSFLMDNMV IDESIAPLFE
901 IRMELDEDGL TFNPTLEVGS DRGFLALIEG LVNDIYNVAR LIPRLAKDRM NYKMDLEDNT
961 DLIEMREEVS SLVINAMKEA EEYQDSFERY SYLWTDNLQE FMKNFLIYGC AVTAEDLDTW
1021 TDDTIPKTPP TLAQFQEQID SYEKLYEEVS KCENTKVFHG WLQCDCRPFK QALLSTIRRW
1081 GFMFKRHLSN HVTNSLADLE AFMKVARMGL TKPLKEGDYD GLVEVMGHLM KVKERQAATD
1141 NMFEPLKQTI ELLKTYGEEM PEEIHLKLQE LPEHWANTKK LAIQVKLTVA PLQANEVSIL
1201 RRKCQQFELK QHEFRERFRR EAPFSFSDPN PYKSLNKQQK SISAMEGIME ALSKSGGLFE
1261 VPVPDYKQLK ACHREVRLLK ELWDMVVVVN TSIEDWKTTK WKDINVEQMD IDCKKFAKDM
1321 RSLDKEMKTW DAFVGLDNTV KNVITSLRAV SELQNPAIRE RHWQQLMQAT QVKFKMSEET
1381 TLADLLQLNL HSYEDEVRNI VDKAVKESGM EKVLKALDST WSMMEFQHEP HPRTGTMMLK
1441 SSEVLVETLE DNQVQLQNLM MSKYLAHFLK EVTSWQQKLS TADSVISIWF EVQRTWSHLE
1501 SIFIGSEDIR TQLPGDSQRF DDINQEFKAL MEDAVKTPNV VEATSKPGLY NKLEALKKSL
1561 AICEKALAEY LETKRLAFPR FYFVSSADLL DILSNGNDPV EVSRHLSKLF DSLCKLKFRL
1621 DASDKPLKVG LGMYSKEDEY MVFDQECDLS GQVEVWLNRV LDRMCSTLRH EIPEAVVTYE
1681 EKPREQWILD YPAQVALTCT QIWWTTEVGL AFARLEEGYE NAIRDYNKKQ ISQLNVLITL
1741 LMGNLNAGDR MKIMTICTID VHARDVVAKM IVAKVESSQA FTWQAQLRHR WDEEKRHCFA
1801 NICDAQIQYS YEYLGNTPRL VITPLTDRCY ITLTQSLHLI MGGAPAGPAG TGKTETTKDL
1861 GRALGTMVYV FNCSEQMDYK SCGNIYKGLA QTGAWGCFDE FNRISVEVLS VIAVQVKCVQ
1921 DAIRAKKKAF NFLGEIIGLI PTVGIFITMN PGYAGRAELP ENLKALFRPC AMVVPDFELI
1981 CEIMLMAEGF LEARLLARKF ITLYTLCKEL LSKQDHYDWG LRAIKSVLVV AGSLKRGDPS
2041 RAEDQVLMRA LRDFNIPKIV TDDLPVFMGL IGDLFPALDV PRKRDLNFEK IIKQSIVELK
2101 LQAEDSFVLK VVQLEELLQV RHSVFIVGNA GSGKSQVLKS LNKTYQNLKR KPVAVDLDPK
2161 AVTCDELFGI INPVTREWKD GLFSTIMRDL ANITHDGPKW IILDGDIDPM WIESLNTVMD
2221 DNKVLTLASN ERIPLNRTMR LVFEISHLRT ATPATVSRAG ILYINPADLG WNPVVSSWIE
2281 RRKVQSEKAN LMILFDKYLP TCLDKLRFGF KKITPVPEIT VIQTILYLLE CLLTEKTVPP
2341 DSPRELYELY FVFTCFWAFG GAMFQDQLVD YRVEFSKWWI NEFKTIKFPS QGTIFDYYID
2401 PDTKKFLPWT DKVPSFELDP DVPLQASLVH TTETIRIRYF MDLLMEKSWP VMLVGNAGTG
2461 KSVLMGDKLE SLNTDNYLVQ AVPFNFYTTS AMLQGVLEKP LEKKSGRNYG PPGTKKLVYF
2521 IDDMNMPEVD KYGTVAPHTL IRQHMDHRHW YDRHKLTLKD IHNCQYVACM NPTSGSFTID
2581 SRLQRHFCVF AVSFPGQEAL TTIYNTILTQ HLAFRSVSMA IQRISSQLVA AALALHQKIT
2641 ATFLPTAIKF HYVFNLRDLS NIFQGLLFST AEVLKTPLDL VRLWLHETER VYGDKMVDEK
2701 DQETLHRVTM ASTKKFFDDL GDELLFAKPN IFCHFAQGIG DPKYVPVTDM APLNKLLVDV
2761 LDSYNEVNAV MNLVLFEDAV AHICRINRIL ESPRGNALLV GVGGSGKQSL SRLAAYISGL
2821 DVFQITLKKG YGIPDLKIDL AAQYIKAAVK NVPSVFLMTD SQVAEEQFLV LINDLLASGE
2881 IPGLFMEDEV ENIISSMRPQ VKSLGMNDTR ETCWKFFIEK VRRQLKVILC FSPVGSVLRV
2941 RARKFPAVVN CTAIDWFHEW PEDALVSVSA RFLEETEGIP WEVKASISFF MSYVHTTVNE
3001 MSRVYLATER RYNYTTPKTF LEQIKLYQNL LAKKRTELVA KIERLENGLM KLQSTASQVD
3061 DLKAKLAIQE AELKQKNESA DQLIQVVGIE AEKVSKEKAI ADQEEVKVEV INKNVTEKQK
3121 ACETDLAKAE PALLAAQEAL DTLNKNNLTE LKSFGSPPDA VVNVTAAVMI LTAPGGKIPK
3181 DKSWKAAKIM MGKVDTFLDS LKKFDKEHIP EACLKAFKPY QGNPTFDPEF IRSKSTAAAG
3241 LCSWCINIVR FYEVYCDVAP KRQALEEANA ELAEAQEKLS RIKNKIAELN ANLSNLTSAF
3301 EKATAEKIKC QQEADATNRV ILLANRLVGG LASENIRWAE SVENFRSQGV TLCGDVLLIS
3361 AFVSYVGYFT KKYRNELMEK FWIPYIHNLK VPIPITNGLD PLSLLTDDAD VATWNNQGLP
3421 SDRMSTENAT ILGNTERWPL IVDAQLQGIK WIKNKYRSEL KAIRLGQKSY LDVIEQAISE
3481 GDTLLIENIG ETVDPVLDPL LGRNTIKKGK YIKIGDKEVE YHPKFRLILH TKYFNPHYKP
3541 EMQAQCTLIN FLVTRDGLED QLLAAVVAKE RPDLEQLKAN LTKSQNEFKI VLKELEDSLL
3601 ARLSAASGNF LGDTALVENL ETTKHTASEI EEKVVEAKIT EVKINEAREN YRPAAERASL
3661 LYFILNDLNK INPVYQFSLK AFNVVFEKAI QRTTPANEVK QRVINLTDEI TYSVYMYTAR
3721 GLFERDKLIF LAQVTFQVLS MKKELNPVEL DFLLRFPFKA GVVSPVDFLQ HQGWGGIKAL
3781 SEMDEFKNLD SDIEGSAKRW KKLVESEAPE KEIFPKEWKN KTALQKLCMV RCLRPDRMTY
3841 AIKNFVEEKM GSKFVEGRSV EFSKSYEESS PSTSIFFILS PGVDPLKDVE ALGKKLGFTI
3901 DNGKLHNVSL GQGQEVVAEN ALDVAAEKGH WVILQNIHLV ARWLGTLDKK LEHYSTGSHE
3961 DYRVFISAEP APSPETHIIP QGILENAIKI TNEPPTGMHA NLHKALDLFT QDTLEMCTKE
4021 MEFKCMLFAL CYFHAVVAER RKFGAQGWNR SYPFNNGDLT ISINVLYNYL EANPKVPWDD
4081 LRYLFGEIMY GGHITDDWDR RLCRTYLAEY IRTEMLEGDV LLAPGFQIPP NLDYKGYHEY
4141 IDENLPPESP YLYGLHPNAE IGFLTVTSEK LFRTVLEMQP KETDSGAGTG VSREEKVKAV
4201 LDDILEKIPE TFNMAEIMAK AAEKTPYVVV AFQECERMNI LTNEMRRSLK ELNLGLKGEL
4261 TITTDVEDLS TALFYDTVPD TWVARAYPSM MGLAAWYADL LLRIRELEAW TTDFALPTTV
4321 WLAGFFNPQS FLTAIMQSMA RKNEWPLDKM CLSVEVTKKN REDMTAPPRE GSYVYGLFME
4381 GARWDTQTGV IAEARLKELT PAMPVIFIKA IPVDRMETKN IYECPVYKTR IRGPTYVWTF
4441 NLKTKEKAAK WILAAVALLL QVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNAH17 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
- 5.2 nTPM
Expression across tissuesHPA
Tissue
- testis: 5.2 nTPM
- retina: 2.3 nTPM
- skin: 0.3 nTPM
- cerebral cortex: 0.2 nTPM
- lung: 0.1 nTPM
- ovary: 0.1 nTPM
Single-cell type
- retinal bipolar cells: 312 nCPM
- cone photoreceptor cells: 224 nCPM
- neutrophils: 95 nCPM
- early spermatids: 70 nCPM
- late spermatids: 59 nCPM
- late primary spermatocytes: 59 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- white matter: 4.6 nTPM
- medulla oblongata: 3.9 nTPM
- pons: 3 nTPM
- spinal cord: 2.3 nTPM
- midbrain: 2.1 nTPM
- cerebellum: 1.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNAH17.
Disease | AllUniProt
Conditions DNAH17 is implicated in, by any mechanism.
- Spermatogenic failure 39 (SPGF39) MIM:618643
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 1,569 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spermatogenic failure 39
- DNAH17-related disorder
- Short stature
- Male infertility
- Male infertility with spermatogenesis disorder
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)
- 0.75
- gnomAD pLI
- 0
- gnomAD missense Z
- -3.13
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
Molecular functions
- ATP binding
- dynein intermediate chain binding
- dynein light intermediate chain binding
- microtubule motor activity
- minus-end-directed microtubule motor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Dynein heavy chain, D6 P-loop domain
- Dynein heavy chain, tail
- 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 1
- 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
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNAH17 as an antibody target. Whether an autoantibody or antibody against DNAH17 could matter depends on whether native DNAH17 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNAH17 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 DNAH17 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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