LOCUS       NP_775899               4462 aa            linear   PRI 29-APR-2025
DEFINITION  dynein axonemal heavy chain 17 [Homo sapiens].
ACCESSION   NP_775899 XP_002343587 XP_002345123 XP_002347854
VERSION     NP_775899.3
DBSOURCE    REFSEQ: accession NM_173628.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 4462)
  AUTHORS   Song,B., Yang,T., Shen,Q., Liu,Y., Wang,C., Li,G., Gao,Y., Cao,Y.
            and He,X.
  TITLE     Novel mutations in DNAH17 cause sperm flagellum defects and their
            influence on ICSI outcome
  JOURNAL   J Assist Reprod Genet 40 (10), 2485-2492 (2023)
   PUBMED   37574497
  REMARK    GeneRIF: Novel mutations in DNAH17 cause sperm flagellum defects
            and their influence on ICSI outcome.
            Review article
REFERENCE   2  (residues 1 to 4462)
  AUTHORS   Liu,Z., Wang,C., Ni,F., Yang,F., Wei,H., Li,T., Wang,J. and Wang,B.
  TITLE     Novel compound heterozygous variants of DNAH17 in a Chinese
            infertile man with multiple morphological abnormalities of sperm
            flagella
  JOURNAL   Andrologia 54 (10), e14553 (2022)
   PUBMED   35932098
  REMARK    GeneRIF: Novel compound heterozygous variants of DNAH17 in a
            Chinese infertile man with multiple morphological abnormalities of
            sperm flagella.
REFERENCE   3  (residues 1 to 4462)
  AUTHORS   Zhang,B., Khan,I., Liu,C., Ma,A., Khan,A., Zhang,Y., Zhang,H.,
            Kakakhel,M.B.S., Zhou,J., Zhang,W., Li,Y., Ali,A., Jiang,X.,
            Murtaza,G., Khan,R., Zubair,M., Yuan,L., Khan,M., Wang,L.,
            Zhang,F., Wang,X., Ma,H. and Shi,Q.
  TITLE     Novel loss-of-function variants in DNAH17 cause multiple
            morphological abnormalities of the sperm flagella in humans and
            mice
  JOURNAL   Clin Genet 99 (1), 176-186 (2021)
   PUBMED   33070343
  REMARK    GeneRIF: Novel loss-of-function variants in DNAH17 cause multiple
            morphological abnormalities of the sperm flagella in humans and
            mice.
REFERENCE   4  (residues 1 to 4462)
  AUTHORS   Song,B., Liu,C., Gao,Y., Marley,J.L., Li,W., Ni,X., Liu,W.,
            Chen,Y., Wang,J., Wang,C., Zhou,P., Wei,Z., He,X., Zhang,F. and
            Cao,Y.
  TITLE     Novel compound heterozygous variants in dynein axonemal heavy chain
            17 cause asthenoteratospermia with sperm flagellar defects
  JOURNAL   J Genet Genomics 47 (11), 713-717 (2020)
   PUBMED   33423959
  REMARK    GeneRIF: Novel compound heterozygous variants in dynein axonemal
            heavy chain 17 cause asthenoteratospermia with sperm flagellar
            defects.
REFERENCE   5  (residues 1 to 4462)
  AUTHORS   Sha,Y., Wei,X., Ding,L., Mei,L., Huang,X., Lin,S., Su,Z., Kong,L.,
            Zhang,Y. and Ji,Z.
  TITLE     DNAH17 is associated with asthenozoospermia and multiple
            morphological abnormalities of sperm flagella
  JOURNAL   Ann Hum Genet 84 (3), 271-279 (2020)
   PUBMED   31841227
  REMARK    GeneRIF: DNAH17 is associated with asthenozoospermia and multiple
            morphological abnormalities of sperm flagella.
REFERENCE   6  (residues 1 to 4462)
  AUTHORS   Zhang,B., Ma,H., Khan,T., Ma,A., Li,T., Zhang,H., Gao,J., Zhou,J.,
            Li,Y., Yu,C., Bao,J., Ali,A., Murtaza,G., Yin,H., Gao,Q., Jiang,X.,
            Zhang,F., Liu,C., Khan,I., Zubair,M., Hussain,H.M.J., Khan,R.,
            Yousaf,A., Yuan,L., Lu,Y., Xu,X., Wang,Y., Tao,Q., Hao,Q., Fang,H.,
            Cheng,H., Zhang,Y. and Shi,Q.
  TITLE     A DNAH17 missense variant causes flagella destabilization and
            asthenozoospermia
  JOURNAL   J Exp Med 217 (2) (2020)
   PUBMED   31658987
  REMARK    GeneRIF: A DNAH17 missense variant causes flagella destabilization
            and asthenozoospermia.
REFERENCE   7  (residues 1 to 4462)
  AUTHORS   Whitfield,M., Thomas,L., Bequignon,E., Schmitt,A., Stouvenel,L.,
            Montantin,G., Tissier,S., Duquesnoy,P., Copin,B., Chantot,S.,
            Dastot,F., Faucon,C., Barbotin,A.L., Loyens,A., Siffroi,J.P.,
            Papon,J.F., Escudier,E., Amselem,S., Mitchell,V., Toure,A. and
            Legendre,M.
  TITLE     Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer
            Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to
            Asthenozoospermia
  JOURNAL   Am J Hum Genet 105 (1), 198-212 (2019)
   PUBMED   31178125
  REMARK    GeneRIF: Mutations in DNAH17 Cause Isolated Male Infertility Due to
            Asthenozoospermia.
REFERENCE   8  (residues 1 to 4462)
  AUTHORS   Fan,X., Guo,H., Dai,B., He,L., Zhou,D. and Lin,H.
  TITLE     The association between methylation patterns of DNAH17 and
            clinicopathological factors in hepatocellular carcinoma
  JOURNAL   Cancer Med 8 (1), 337-350 (2019)
   PUBMED   30575322
  REMARK    GeneRIF: We found that overexpression of DNAH17 by down-regulation
            of methylation levels might contribute to hepatocellular carcinoma
            (HCC) initiation and progression. In addition, the hypomethylation
            status of the DNAH17 gene, both in tumor tissue and adjacent
            non-cancerous tissue, could be a promising biomarker for tumor
            thrombosis in HCC.
REFERENCE   9  (residues 1 to 4462)
  AUTHORS   Milisav,I. and Affara,N.A.
  TITLE     A potential human axonemal dynein heavy-chain gene maps to 17q25
  JOURNAL   Mamm Genome 9 (5), 404-407 (1998)
   PUBMED   9545504
REFERENCE   10 (residues 1 to 4462)
  AUTHORS   Neesen,J., Koehler,M.R., Kirschner,R., Steinlein,C.,
            Kreutzberger,J., Engel,W. and Schmid,M.
  TITLE     Identification of dynein heavy chain genes expressed in human and
            mouse testis: chromosomal localization of an axonemal dynein gene
  JOURNAL   Gene 200 (1-2), 193-202 (1997)
   PUBMED   9373155
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC016182.24 and AC061992.11.
            
            On or before Aug 26, 2009 this sequence version replaced
            XP_002347854.1, XP_002345123.1, XP_002343587.1, NP_775899.2.
            
            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].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389840.7/ ENSP00000374490.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4462
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     Protein         1..4462
                     /product="dynein axonemal heavy chain 17"
                     /note="dynein, axonemal, heavy polypeptide 17; dynein
                     heavy chain 17, axonemal; ciliary dynein heavy chain 17;
                     dynein light chain 2, axonemal; axonemal beta dynein heavy
                     chain 17; dynein axonemal light chain 2; ciliary dynein
                     heavy chain-like protein 1; axonemal dynein heavy
                     chain-like protein 1"
                     /calculated_mol_wt=509185
     Region          1..1808
                     /region_name="Stem. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          190..767
                     /region_name="DHC_N1"
                     /note="Dynein heavy chain, N-terminal region 1; pfam08385"
                     /db_xref="CDD:462457"
     Region          1269..1675
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:462462"
     Region          1496..4127
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1809..2135
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region;
                     pfam12774"
                     /db_xref="CDD:463697"
     Region          1809..2030
                     /region_name="AAA 1. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          2090..2311
                     /region_name="AAA 2. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          2417..2665
                     /region_name="AAA 3. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          2763..3012
                     /region_name="AAA 4. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          3027..3313
                     /region_name="Stalk. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          3043..3386
                     /region_name="MT"
                     /note="Microtubule-binding stalk of dynein motor;
                     pfam12777"
                     /db_xref="CDD:463699"
     Region          3405..3632
                     /region_name="AAA 5. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          3842..4068
                     /region_name="AAA 6. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          4147..4182
                     /region_name="TPR 3"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFH2.3)"
     Region          4165..4460
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:465677"
     CDS             1..4462
                     /gene="DNAH17"
                     /gene_synonym="DNAHL1; DNEL2; SPGF39"
                     /coded_by="NM_173628.4:128..13516"
                     /db_xref="CCDS:CCDS11757.2"
                     /db_xref="GeneID:8632"
                     /db_xref="HGNC:HGNC:2946"
                     /db_xref="MIM:610063"
ORIGIN      
        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 qv
//
