DNAH17 (dynein axonemal heavy chain 17)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8632
Gene name Dynein axonemal heavy chain 17
Gene symbol DNAH17
Synonyms (NCBI Gene)
DNAHL1DNEL2SPGF39
Chromosome 17
Chromosome location 17q25.3
Summary 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]
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs767723684 TA>- Pathogenic Stop gained, non coding transcript variant, inframe indel, coding sequence variant, genic upstream transcript variant
rs768564744 C>G,T Likely-pathogenic Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1418782829 A>G Pathogenic Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1598474055 G>A Pathogenic Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1598525781 GCTGTGGAAAATAAGAGTC>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
200
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (200)
miRTarBase ID miRNA Experiments Reference
MIRT613407 hsa-miR-1911-3p HITS-CLIP 23824327
MIRT613406 hsa-miR-1910-3p HITS-CLIP 23824327
MIRT613405 hsa-miR-6511a-5p HITS-CLIP 23824327
MIRT613404 hsa-miR-4733-3p HITS-CLIP 23824327
MIRT613403 hsa-miR-4514 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003777 Function Microtubule motor activity NAS 9373155
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610063 2946 ENSG00000187775
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UFH2
Protein name Dynein axonemal heavy chain 17 (Axonemal beta dynein heavy chain 17) (Axonemal dynein heavy chain-like protein 1) (Ciliary dynein heavy chain 17) (Ciliary dynein heavy chain-like protein 1) (Dynein axonemal light chain 2)
Protein function Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08385 DHC_N1 190 → 767 Dynein heavy chain, N-terminal region 1 Family
PF08393 DHC_N2 1269 → 1675 Dynein heavy chain, N-terminal region 2 Family
PF12774 AAA_6 1809 → 2135 Hydrolytic ATP binding site of dynein motor region Domain
PF17852 Dynein_AAA_lid 2291 → 2411 Dynein heavy chain AAA lid domain Domain
PF12775 AAA_7 2416 → 2595 Domain
PF17857 AAA_lid_1 2628 → 2727 AAA+ lid domain Domain
PF12780 AAA_8 2771 → 3030 P-loop containing dynein motor region D4 Domain
PF12777 MT 3043 → 3386 Microtubule-binding stalk of dynein motor Domain
PF12781 AAA_9 3412 → 3630 ATP-binding dynein motor region Domain
PF03028 Dynein_heavy 3870 → 3991 Dynein heavy chain region D6 P-loop domain Domain
PF18198 AAA_lid_11 4005 → 4159 Dynein heavy chain AAA lid domain Domain
PF18199 Dynein_C 4165 → 4460 Dynein heavy chain C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in testis (PubMed:9545504). Expressed in spermatozoa (at protein level). Not detected in airway epithelial cells (at protein level) (PubMed:31178125). {ECO:0000269|PubMed:31178125, ECO:0000269|PubMed:9545504}.
Sequence 
MTMAPDVRLEYLEEVASIVLKFKPDKWSKLIGAEENVALFTEFFEKPDVQVLVLTLNAAG
MIIPCLGFPQSLKSKGVYFIKTKSENINKDNYRARLLYGDISPTPVDQLIAVVEEVLSSL
LNQSENMAGWPQVVSEDIVKQVHRLKNEMFVMSGKIKGKTLLPIPEHLGSLDGTLESMER
IPSSLDNLLLHAIETTIIDWSHQIRDVLSKDSAQALLDGLHPLPQVEFEFWDTRLLNLKC
IHEQLNRPKVNKIVEILEKAKSCYWPALQNVYTNVTEGLKEANDIVLYLKPLRILLEEME
QADFTMLPTFIAKVLDTICFIWATSEYYNTPARIIVILQEFCNQIIEMTRTFLSPEEVLK
GLQGEIEEVLSGISLAVNVLKELYQTYDFCCVNMKLFFKDKEPVPWEFPSSLAFSRINSF
FQRIQTIEELYKTAIEFLKLEKIELGGVRGNLLGSLVTRIYDEVFELVKVFADCKYDPLD
PGDSNFDRDYADFEIKIQDLDRRLATIFCQGFDDCSCIKSSAKLLYMCGGLMERPLILAE
VAPRYSVMLELFDAELDNAKILYDAQMAASEEGNIPLIHKNMPPVAGQLKWSLELQERLE
VSMKHLKHVEHPVMSGAEAKLTYQKYDEMMELLRCHREKIYQQWVAGVDQDCHFNLGQPL
ILRDAASNLIHVNFSKALVAVLREVKYLNFQQQKEIPDSAESLFSENETFRKFVGNLELI
VGWYNEIKTIVKAVEFLLIKSELEAIDVKLLSAETTLFWNGEGVFQYIQEVREILHNLQN
RMQKAKQNIEGISQAMKDWSANPLFERKDNKKEALLDLDGRIANLNKRYAAVRDAGVKIQ
AMVAENAELFRADTLSLPWKDYVIYIDDMVLDEFDQFIRKSLSFLMDNMVIDESIAPLFE
IRMELDEDGLTFNPTLEVGSDRGFLALIEGLVNDIYNVARLIPRLAKDRMNYKMDLEDNT
DLIEMREEVSSLVINAMKEAEEYQDSFERYSYLWTDNLQEFMKNFLIYGCAVTAEDLDTW
TDDTIPKTPPTLAQFQEQIDSYEKLYEEVSKCENTKVFHGWLQCDCRPFKQALLSTIRRW
GFMFKRHLSNHVTNSLADLEAFMKVARMGLTKPLKEGDYDGLVEVMGHLMKVKERQAATD
NMFEPLKQTIELLKTYGEEMPEEIHLKLQELPEHWANTKKLAIQVKLTVAPLQANEVSIL
RRKCQQFELKQHEFRERFRREAPFSFSDPNPYKSLNKQQKSISAMEGIMEALSKSGGLFE
VPVPDYKQLKACHREVRLLKELWDMVVVVNTSIEDWKTTKWKDINVEQMDIDCKKFAKDM
RSLDKEMKTWDAFVGLDNTVKNVITSLRAVSELQNPAIRERHWQQLMQATQVKFKMSEET
TLADLLQLNLHSYEDEVRNIVDKAVKESGMEKVLKALDSTWSMMEFQHEPHPRTGTMMLK
SSEVLVETLEDNQVQLQNLMMSKYLAHFLKEVTSWQQKLSTADSVISIWFEVQRTWSHLE
SIFIGSEDIRTQLPGDSQRFDDINQEFKALMEDAVKTPNVVEATSKPGLYNKLEALKKSL
AICEKALAEYLETKRLAFPRFYFVSSADLLDILSNGNDPVEVSRHLSKLFDSLCKLKFRL
DASDKPLKVGLGMYSKEDEYMVFDQECDLSGQVEVWLNRVLDRMCSTLRHEIPEAVVTYE
EKPREQWILDYPAQVALTCTQIWWTTEVGLAFARLEEGYENAIRDYNKKQISQLNVLITL
LMGNLNAGDRMKIMTICTIDVHARDVVAKMIVAKVESSQAFTWQAQLRHRWDEEKRHCFA
NICDAQIQYSYEYLGNTPRLVITPLTDRCYITLTQSLHLIMGGAPAGPAGTGKTETTKDL
GRALGTMVYVFNCSEQMDYKSCGNIYKGLAQTGAWGCFDEFNRISVEVLSVIAVQVKCVQ
DAIRAKKKAFNFLGEIIGLIPTVGIFITMNPGYAGRAELPENLKALFRPCAMVVPDFELI
CEIMLMAEGFLEARLLARKFITLYTLCKELLSKQDHYDWGLRAIKSVLVVAGSLKRGDPS
RAEDQVLMRALRDFNIPKIVTDDLPVFMGLIGDLFPALDVPRKRDLNFEKIIKQSIVELK
LQAEDSFVLKVVQLEELLQVRHSVFIVGNAGSGKSQVLKSLNKTYQNLKRKPVAVDLDPK
AVTCDELFGIINPVTREWKDGLFSTIMRDLANITHDGPKWIILDGDIDPMWIESLNTVMD
DNKVLTLASNERIPLNRTMRLVFEISHLRTATPATVSRAGILYINPADLGWNPVVSSWIE
RRKVQSEKANLMILFDKYLPTCLDKLRFGFKKITPVPEITVIQTILYLLECLLTEKTVPP
DSPRELYELYFVFTCFWAFGGAMFQDQLVDYRVEFSKWWINEFKTIKFPSQGTIFDYYID
PDTKKFLPWTDKVPSFELDPDVPLQASLVHTTETIRIRYFMDLLMEKSWPVMLVGNAGTG
KSVLMGDKLESLNTDNYLVQAVPFNFYTTSAMLQGVLEKPLEKKSGRNYGPPGTKKLVYF
IDDMNMPEVDKYGTVAPHTLIRQHMDHRHWYDRHKLTLKDIHNCQYVACMNPTSGSFTID
SRLQRHFCVFAVSFPGQEALTTIYNTILTQHLAFRSVSMAIQRISSQLVAAALALHQKIT
ATFLPTAIKFHYVFNLRDLSNIFQGLLFSTAEVLKTPLDLVRLWLHETERVYGDKMVDEK
DQETLHRVTMASTKKFFDDLGDELLFAKPNIFCHFAQGIGDPKYVPVTDMAPLNKLLVDV
LDSYNEVNAVMNLVLFEDAVAHICRINRILESPRGNALLVGVGGSGKQSLSRLAAYISGL
DVFQITLKKGYGIPDLKIDLAAQYIKAAVKNVPSVFLMTDSQVAEEQFLVLINDLLASGE
IPGLFMEDEVENIISSMRPQVKSLGMNDTRETCWKFFIEKVRRQLKVILCFSPVGSVLRV
RARKFPAVVNCTAIDWFHEWPEDALVSVSARFLEETEGIPWEVKASISFFMSYVHTTVNE
MSRVYLATERRYNYTTPKTFLEQIKLYQNLLAKKRTELVAKIERLENGLMKLQSTASQVD
DLKAKLAIQEAELKQKNESADQLIQVVGIEAEKVSKEKAIADQEEVKVEVINKNVTEKQK
ACETDLAKAEPALLAAQEALDTLNKNNLTELKSFGSPPDAVVNVTAAVMILTAPGGKIPK
DKSWKAAKIMMGKVDTFLDSLKKFDKEHIPEACLKAFKPYQGNPTFDPEFIRSKSTAAAG
LCSWCINIVRFYEVYCDVAPKRQALEEANAELAEAQEKLSRIKNKIAELNANLSNLTSAF
EKATAEKIKCQQEADATNRVILLANRLVGGLASENIRWAESVENFRSQGVTLCGDVLLIS
AFVSYVGYFTKKYRNELMEKFWIPYIHNLKVPIPITNGLDPLSLLTDDADVATWNNQGLP
SDRMSTENATILGNTERWPLIVDAQLQGIKWIKNKYRSELKAIRLGQKSYLDVIEQAISE
GDTLLIENIGETVDPVLDPLLGRNTIKKGKYIKIGDKEVEYHPKFRLILHTKYFNPHYKP
EMQAQCTLINFLVTRDGLEDQLLAAVVAKERPDLEQLKANLTKSQNEFKIVLKELEDSLL
ARLSAASGNFLGDTALVENLETTKHTASEIEEKVVEAKITEVKINEARENYRPAAERASL
LYFILNDLNKINPVYQFSLKAFNVVFEKAIQRTTPANEVKQRVINLTDEITYSVYMYTAR
GLFERDKLIFLAQVTFQVLSMKKELNPVELDFLLRFPFKAGVVSPVDFLQHQGWGGIKAL
SEMDEFKNLDSDIEGSAKRWKKLVESEAPEKEIFPKEWKNKTALQKLCMVRCLRPDRMTY
AIKNFVEEKMGSKFVEGRSVEFSKSYEESSPSTSIFFILSPGVDPLKDVEALGKKLGFTI
DNGKLHNVSLGQGQEVVAENALDVAAEKGHWVILQNIHLVARWLGTLDKKLEHYSTGSHE
DYRVFISAEPAPSPETHIIPQGILENAIKITNEPPTGMHANLHKALDLFTQDTLEMCTKE
MEFKCMLFALCYFHAVVAERRKFGAQGWNRSYPFNNGDLTISINVLYNYLEANPKVPWDD
LRYLFGEIMYGGHITDDWDRRLCRTYLAEYIRTEMLEGDVLLAPGFQIPPNLDYKGYHEY
IDENLPPESPYLYGLHPNAEIGFLTVTSEKLFRTVLEMQPKETDSGAGTGVSREEKVKAV
LDDILEKIPETFNMAEIMAKAAEKTPYVVVAFQECERMNILTNEMRRSLKELNLGLKGEL
TITTDVEDLSTALFYDTVPDTWVARAYPSMMGLAAWYADLLLRIRELEAWTTDFALPTTV
WLAGFFNPQSFLTAIMQSMARKNEWPLDKMCLSVEVTKKNREDMTAPPREGSYVYGLFME
GARWDTQTGVIAEARLKELTPAMPVIFIKAIPVDRMETKNIYECPVYKTRIRGPTYVWTF
NLKTKEKAAKWILAAVALLLQV
Sequence length 4462
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Motor proteins
Amyotrophic lateral sclerosis
Huntington disease
Pathways of neurodegeneration - multiple diseases 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
291
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNAH17-related disorder Likely pathogenic rs2086970259, rs2511477180, rs757601640, rs748912987, rs745525261 RCV003412444
RCV003402398
RCV003402705
RCV003894560
RCV003914069
Male infertility with spermatogenesis disorder Likely pathogenic rs769976401 RCV004018300
Short stature Likely pathogenic rs763505389, rs768564744 RCV000736146
RCV000736144
Spermatogenic failure 39 Pathogenic; Likely pathogenic rs2146716548, rs775503600, rs2511560242, rs201018927, rs1598595659, rs767723684, rs1598525781 RCV002267212
RCV002271347
RCV003147887
RCV003333882
RCV000853614
RCV000853615
RCV000853616
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs746046192, rs1287598494, rs1598474055, rs1418782829 -
Acute myeloid leukemia Benign rs56246296, rs72927807, rs12948761 RCV005915893
RCV005923513
RCV005924881
Cervical cancer Uncertain significance; Benign rs771803250, rs61743408 RCV005928999
RCV005938746
Familial cancer of breast Likely benign rs183791613 RCV005936799
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Asthenozoospermia Associate 31178125
Autism Spectrum Disorder Associate 32807774
Carcinoma Hepatocellular Associate 30575322
Cardiovascular Abnormalities Associate 35474353
Ciliary Motility Disorders Associate 31178125
COVID 19 Associate 39521879
Infertility Associate 31178125
Infertility Male Associate 31178125, 34126833
Laterality Defects Autosomal Dominant Associate 35474353
Neoplasms Associate 30575322, 32351291