LOCUS       NP_061720               4024 aa            linear   PRI 06-AUG-2024
DEFINITION  dynein axonemal heavy chain 7 [Homo sapiens].
ACCESSION   NP_061720
VERSION     NP_061720.2
DBSOURCE    REFSEQ: accession NM_018897.3
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 4024)
  AUTHORS   Wilken,A., Hoben,I.M., Wolter,A., Loges,N.T., Olbrich,H., Aprea,I.,
            Dworniczak,B., Raidt,J. and Omran,H.
  TITLE     Primary Ciliary Dyskinesia Associated Disease-Causing Variants in
            CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy
            Chains DNAH1, DNAH6, and DNAH7
  JOURNAL   Cells 13 (14), 1200 (2024)
   PUBMED   39056782
  REMARK    GeneRIF: Primary Ciliary Dyskinesia Associated Disease-Causing
            Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner
            Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 4024)
  AUTHORS   Gao,Y., Liu,L., Shen,Q., Fu,F., Xu,C., Geng,H., Lv,M., Li,K.,
            Tang,D., Song,B., Wu,H., Xu,Y., Zhang,Y., Tao,F., Zhou,P., Wei,Z.,
            He,X. and Cao,Y.
  TITLE     Loss of function mutation in DNAH7 induces male infertility
            associated with abnormalities of the sperm flagella and
            mitochondria in human
  JOURNAL   Clin Genet 102 (2), 130-135 (2022)
   PUBMED   35543642
  REMARK    GeneRIF: Loss of function mutation in DNAH7 induces male
            infertility associated with abnormalities of the sperm flagella and
            mitochondria in human.
REFERENCE   3  (residues 1 to 4024)
  AUTHORS   Wei,X., Sha,Y., Wei,Z., Zhu,X., He,F., Zhang,X., Liu,W., Wang,Y.
            and Lu,Z.
  TITLE     Bi-allelic mutations in DNAH7 cause asthenozoospermia by impairing
            the integrality of axoneme structure
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 53 (10), 1300-1309 (2021)
   PUBMED   34476482
  REMARK    GeneRIF: Bi-allelic mutations in DNAH7 cause asthenozoospermia by
            impairing the integrality of axoneme structure.
REFERENCE   4  (residues 1 to 4024)
  AUTHORS   Zhang,Y.J., O'Neal,W.K., Randell,S.H., Blackburn,K., Moyer,M.B.,
            Boucher,R.C. and Ostrowski,L.E.
  TITLE     Identification of dynein heavy chain 7 as an inner arm component of
            human cilia that is synthesized but not assembled in a case of
            primary ciliary dyskinesia
  JOURNAL   J Biol Chem 277 (20), 17906-17915 (2002)
   PUBMED   11877439
  REMARK    GeneRIF: These studies identify DNAH7 as an inner arm component of
            human cilia that is synthesized but not assembled in a case of
            primary ciliary dyskinesia.
REFERENCE   5  (residues 1 to 4024)
  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
            AC114760.3, BP199399.1, AF327442.1, AC068919.4 and BX117789.1.
            
            On Jul 6, 2007 this sequence version replaced NP_061720.1.
            
            Summary: DNAH7 is a component of the inner dynein arm of ciliary
            axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM,
            Mar 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB023161.2, AF327442.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000312428.11/ ENSP00000311273.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4024
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q32.3"
     Protein         1..4024
                     /product="dynein axonemal heavy chain 7"
                     /note="dynein, axonemal, heavy polypeptide 7; axonemal
                     dynein heavy chain 7; dynein heavy chain 7, axonemal;
                     hDHC2; ciliary dynein heavy chain 7; dynein heavy
                     chain-like protein 2; axonemal beta dynein heavy chain 7"
                     /calculated_mol_wt=461030
     Region          1..1289
                     /region_name="Stem. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          1..25
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          49..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          757..1162
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:462462"
     Region          959..3663
                     /region_name="DYN1"
                     /note="Dynein, heavy chain [Cytoskeleton]; COG5245"
                     /db_xref="CDD:227570"
     Region          1290..1616
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region;
                     pfam12774"
                     /db_xref="CDD:463697"
     Region          1290..1511
                     /region_name="AAA 1. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          1571..1802
                     /region_name="AAA 2. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          1938..2189
                     /region_name="AAA 3. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          2302..2555
                     /region_name="AAA 4. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          2311..2573
                     /region_name="AAA_8"
                     /note="P-loop containing dynein motor region D4;
                     pfam12780"
                     /db_xref="CDD:463701"
     Region          2572..2873
                     /region_name="Stalk. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          2954..3184
                     /region_name="AAA 5. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          2961..3182
                     /region_name="AAA_9"
                     /note="ATP-binding dynein motor region; pfam12781"
                     /db_xref="CDD:463702"
     Region          3397..3620
                     /region_name="AAA 6. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q8WXX0.2)"
     Region          3720..4020
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:465677"
     CDS             1..4024
                     /gene="DNAH7"
                     /gene_synonym="CILD50"
                     /coded_by="NM_018897.3:127..12201"
                     /db_xref="CCDS:CCDS42794.1"
                     /db_xref="GeneID:56171"
                     /db_xref="HGNC:HGNC:18661"
                     /db_xref="MIM:610061"
ORIGIN      
        1 msseqdksas kekskkpvrf lpqlsmekla skekfkapar alpqlsmvst kphwqqaaps
       61 fhlsvkqdde spepfsvkne qshaeymerf gkkgklphqv ddsyvgpsts kskgksphke
      121 renfrstlvn vimqqdadld savpdgstip kptasaiekd ilryyyyihh gidtdhvapm
      181 edswlehvld lvpqhlkvft dsivtlsdem redyllsvrk sivdfvlkdp rekgddkktd
      241 elpahraeme ilpkpwrksf laassyirdh lnamnptmla vldlwhtnfk klrlvdikef
      301 hncqdalels sfqniimrhm dsaketllkm wfpevqniyy qgnkkkqlpt gdssaklesf
      361 fncaaalmtl qlqdltlvsm qdftdliaqp pdsvrafehp gfimrlildn dtikfepels
      421 dyidiflnvy dvmikavsfv prvetklysk weskskpttl kpiilneivd ahkekikevi
      481 mkesvapteh lrlydkydfl itrkaerdvd nflaenhsye kiideickyq klieeiqyts
      541 iktirlgmfe mhceeliral vkradiicgk llakmfrdhq evntrlcdef eriaekalst
      601 ppntaelmem kayiqkvevt dmieleqrlv dsknclafli eyvnfspadm rlnnsvfqwy
      661 grmgeifeeh rkiikekieq yqeglklrce rfveelesya kqseefysfg dlqdvqrylk
      721 kaqilngkld laadkieqfn aeeeafgwlp svypqrkkiq dglnpylrly etavefssny
      781 rawtegpyhk vnpdqveadi gnywrglykl ektfhdspya lamtkkvrsk vedfkqhipl
      841 iqvicnpglr prhweamsai vgyplqpsdd stvssfldmn lepyidrfeg iseaaskeys
      901 lekamekmit ewdavefvih syretgtfil asvdeiqmll ddhiiktqtm rgspfikpye
      961 kqmrewegkl lllqeildew lkvqatwlyl epifsspdim sqmpeegrrf tavdktwrdi
     1021 mrsvmqdkhv ltvvtidrml erlkksnell elilkglney lekkrlffpr ffflsndell
     1081 eilsetkdpt rvqphlkkcf egiakvefte tldithmkss egevveliei istakargqv
     1141 ekwlvelerv minsihkvtg datfaytkye rinwvrdwpg qtvlcvsqif wtkevqtaip
     1201 mgikaleqyl ktcnrqiddi vtlvrgklsm qnrvtlgalv vldvhardvl sslvkknisd
     1261 dsdfewlsql ryywqenhle tkminaglry gyeylgnspr lvitpltdrc yrtlfgalhl
     1321 hlggapegpa gtgktettkd lakavakqcv vfncsdgldy lalgkffkgl lscgawacfd
     1381 efnridlevl svvaqqilti qrginagadi lmfegtelkl dptcavfitm npgyagrsel
     1441 pdnlkalfrt vammvpdyam iaeivlyscg fvtarplsvk ivatyrlcse qlssqhhydy
     1501 gmravksvlt aagnlklkyp neneeilllr siidvnlpkf lshdlplfeg itsdlfpgvk
     1561 lpkpdyndll aaikdncasm nlqmtaffse kilqvyemmi vrhgfmivge pfggktsayr
     1621 vlagalndic ekglmeenkv qitvlnpksv tmgqlygqfd svshewsdgv lavsfrafas
     1681 svtpdrkwli fdgpvdavwi enmntvlddn kklclmsgei iqmspqmnli fepmdlevas
     1741 patvsrcgmi ymephmlgwr plmlswvnll pasvsviqke fimglfdrmv pvsvefirkh
     1801 tkelsptsdt nlvrslmnli dcfmddfade vklkerndre tysllegifl fsliwsvgas
     1861 ctdddrlkfn kilrelmesp isdrtrntfk lqsgteqtss kaltvpfpek gtiydyqfvt
     1921 egigkwepwi kklkeappip kdvmfneiiv ptldtirysa lmelltthqk psifvgptgt
     1981 gksvyitnfl lnqlnkeiyk pllinfsaqt taaqtqnivm skldkrrkgv fgpplgkrmv
     2041 vfvddvnmpa revygaqppi ellrqwldhw nwydlkdcsm iklvdiqimc amgppgggrn
     2101 pvtprymrhf niitinefsd ksmytifsri ltwhleicyk fpdefldltt qivngtmtly
     2161 keamknllpt pakshylfnl rdfsrviqgv clsrpettet tevikrlwvh evlrvyydrl
     2221 ldntdrswli nyiqeilrny myedfhelfq rldfdndgmv eaddlrslmf cdfhdpkred
     2281 tnyreiadvd nlrmiveihl eeynniskkp mnlvlfrfai ehisrisril kqprshallv
     2341 gvggsgrqsv trlaahmady svfqveiskg ydttewhedl kvilrkcaeg emqgvflftd
     2401 tqikeesfle dvsnllnage ipnlfaldek qeicdkmrql drqrdktkqt dgspialfnm
     2461 fidhcrsqlh vvlamspigd afrnrlrkfp alvncctidw fqswpedalq avasrfleei
     2521 emseeirdgc idmcksfhts tidlsksffv elqrynyvtp tsylelistf klllekkrse
     2581 vmkmkkryev glekldsass qvatmqmele alhpqlkvas kevdemmimi ekesvevakt
     2641 ekivkadeti aneqamaska ikdecdadla galpilesal aaldtltaqd itvvksmksp
     2701 pagvklvmea icilkgikad kipdptgsgk kiedfwgpak rllgdmrflq slheydkdni
     2761 ppaymniirk nyipnpdfvp ekirnastaa eglckwviam dsydkvakiv apkkiklaaa
     2821 egelkiamdg lrkkqaalke vqdklarlqd tlelnkqkka dlenqvdlcs kkleraeqli
     2881 gglggektrw shtalelgql yinltgdili ssgvvaylga ftstyrqnqt kewttlckgr
     2941 dipcsddcsl mgtlgeavti rtwniaglps dsfsidngii imnarrwplm idpqsqankw
     3001 iknmekansl yviklsepdy vrtlenciqf gtpvllenvg eeldpilepl llkqtfkqgg
     3061 stcirlgdst ieyapdfrfy ittklrnphy lpetsvkvtl lnfmitpegm qdqllgivva
     3121 qerpdleeek qalilqgaen krqlkeiedk ilevlssseg niledetaik ilssskalan
     3181 eisqkqevae etekkidttr mgyrpiaihs silffsladl aniepmyqys ltwfinlfil
     3241 sienseksei lakrlqilkd hftyslyvnv crslfekdkl lfsfcltinl llherainka
     3301 ewrflltggi gldnpyanlc twlpqkswde icrlddlpaf ktirrefmrl kdgwkkvyds
     3361 lephhevfpe ewedkanefq rmliirclrp dkvipmlqef iinrlgrafi epppfdlaka
     3421 fgdsnccapl ifvlspgadp maallkfadd qgyggsklss lslgqgqgpi amkmlekavk
     3481 egtwvvlqnc hlatswmptl ekvceelspe sthpdfrmwl tsypspnfpv svlqngvkmt
     3541 neapkglran iirsylmdpi sdpeffgsck kpeefkklly glcffhalvq errkfgplgw
     3601 nipyefnetd lrisvqqlhm flnqyeelpy ealrymtgec nyggrvtddw drrtlrsiln
     3661 kffnpelven sdykfdssgi yfvppsgdhk syieytktlp ltpapeifgm nanaditkdq
     3721 setqllfdni lltqsrsaga gakssdevvn evasdilgkl pnnfdieaam rrypttytqs
     3781 mntvlvqemg rfnkllktir dscvniqkai kglavmstdl eevvssilnv kipemwmgks
     3841 ypslkplgsy vndflarlkf lqqwyevgpp pvfwlsgfff tqafltgaqq nyarkytipi
     3901 dllgfdyevm edkeykhppe dgvfihglfl dgaswnrkik klaeshpkil ydtvpvmwlk
     3961 pckradipkr psyvaplykt serrgvlstt ghstnfviam tlpsdqpkeh wigrgvallc
     4021 qlns
//
