LOCUS       NP_653267               4753 aa            linear   PRI 30-APR-2025
DEFINITION  dynein heavy chain domain-containing protein 1 isoform 1 [Homo
            sapiens].
ACCESSION   NP_653267
VERSION     NP_653267.2
DBSOURCE    REFSEQ: accession NM_144666.3
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 4753)
  AUTHORS   Martinez,G., Barbotin,A.L., Cazin,C., Wehbe,Z., Boursier,A.,
            Amiri-Yekta,A., Daneshipour,A., Hosseini,S.H., Rives,N.,
            Feraille,A., Thierry-Mieg,N., Bidart,M., Satre,V., Arnoult,C.,
            Ray,P.F., Kherraf,Z.E. and Coutton,C.
  TITLE     New Mutations in DNHD1 Cause Multiple Morphological Abnormalities
            of the Sperm Flagella
  JOURNAL   Int J Mol Sci 24 (3), 2559 (2023)
   PUBMED   36768883
  REMARK    GeneRIF: New Mutations in DNHD1 Cause Multiple Morphological
            Abnormalities of the Sperm Flagella.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 4753)
  AUTHORS   Tan,C., Meng,L., Lv,M., He,X., Sha,Y., Tang,D., Tan,Y., Hu,T.,
            He,W., Tu,C., Nie,H., Zhang,H., Du,J., Lu,G., Fan,L.Q., Cao,Y.,
            Lin,G. and Tan,Y.Q.
  TITLE     Bi-allelic variants in DNHD1 cause flagellar axoneme defects and
            asthenoteratozoospermia in humans and mice
  JOURNAL   Am J Hum Genet 109 (1), 157-171 (2022)
   PUBMED   34932939
  REMARK    GeneRIF: Bi-allelic variants in DNHD1 cause flagellar axoneme
            defects and asthenoteratozoospermia in humans and mice.
REFERENCE   3  (residues 1 to 4753)
  AUTHORS   Renteria,M.E., Coolen,M.W., Statham,A.L., Choi,R.S., Qu,W.,
            Campbell,M.J., Smith,S., Henders,A.K., Montgomery,G.W., Clark,S.J.,
            Martin,N.G. and Medland,S.E.
  TITLE     GWAS of DNA methylation variation within imprinting control regions
            suggests parent-of-origin association
  JOURNAL   Twin Res Hum Genet 16 (4), 767-781 (2013)
   PUBMED   23725790
REFERENCE   4  (residues 1 to 4753)
  AUTHORS   Matsuoka,S., Ballif,B.A., Smogorzewska,A., McDonald,E.R. 3rd,
            Hurov,K.E., Luo,J., Bakalarski,C.E., Zhao,Z., Solimini,N.,
            Lerenthal,Y., Shiloh,Y., Gygi,S.P. and Elledge,S.J.
  TITLE     ATM and ATR substrate analysis reveals extensive protein networks
            responsive to DNA damage
  JOURNAL   Science 316 (5828), 1160-1166 (2007)
   PUBMED   17525332
REFERENCE   5  (residues 1 to 4753)
  AUTHORS   Jikuya,H., Takano,J., Kikuno,R., Hirosawa,M., Nagase,T., Nomura,N.
            and Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen. II.
            The complete sequences of 81 cDNA clones
  JOURNAL   DNA Res 10 (1), 49-57 (2003)
   PUBMED   12693554
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC084337.7 and AC009796.6.
            
            On Jan 30, 2009 this sequence version replaced NP_653267.1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2148093 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000254579.11/ ENSP00000254579.6
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..4753
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     Protein         1..4753
                     /product="dynein heavy chain domain-containing protein 1
                     isoform 1"
                     /note="coiled-coil domain containing 35; dynein heavy
                     chain domain-containing protein 1; DNHD1 variant protein;
                     dynein heavy chain domain 1-like protein; coiled-coil
                     domain-containing protein 35"
                     /calculated_mol_wt=533516
     Region          1019..1466
                     /region_name="DHC_N2"
                     /note="Dynein heavy chain, N-terminal region 2; pfam08393"
                     /db_xref="CDD:462462"
     Region          1649..1999
                     /region_name="AAA_6"
                     /note="Hydrolytic ATP binding site of dynein motor region;
                     pfam12774"
                     /db_xref="CDD:463697"
     Region          1976..>2030
                     /region_name="P-loop containing Nucleoside Triphosphate
                     Hydrolases"
                     /note="Members of the P-loop NTPase domain superfamily are
                     characterized by a conserved nucleotide phosphate-binding
                     motif, also referred to as the Walker A motif
                     (GxxxxGK[S/T], where x is any residue), and the Walker B
                     motif (hhhh[D/E], where h is a...; cl38936"
                     /db_xref="CDD:476819"
     Region          <2274..2346
                     /region_name="Dynein_AAA_lid"
                     /note="Dynein heavy chain AAA lid domain; pfam17852"
                     /db_xref="CDD:465532"
     Region          2363..2527
                     /region_name="AAA_7"
                     /note="P-loop containing dynein motor region; pfam12775"
                     /db_xref="CDD:463698"
     Region          2688..2766
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96M86.2)"
     Region          2868..3125
                     /region_name="AAA_8"
                     /note="P-loop containing dynein motor region D4;
                     pfam12780"
                     /db_xref="CDD:463701"
     Region          3179..3467
                     /region_name="MT"
                     /note="Microtubule-binding stalk of dynein motor;
                     pfam12777"
                     /db_xref="CDD:463699"
     Region          3580..3657
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96M86.2)"
     Region          4104..4227
                     /region_name="Dynein_heavy"
                     /note="Dynein heavy chain region D6 P-loop domain;
                     pfam03028"
                     /db_xref="CDD:460782"
     Region          4407..4745
                     /region_name="Dynein_C"
                     /note="Dynein heavy chain C-terminal domain; pfam18199"
                     /db_xref="CDD:465677"
     Region          4669..4697
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q96M86.2)"
     CDS             1..4753
                     /gene="DNHD1"
                     /gene_synonym="C11orf47; CCDC35; DHCD1; DNHD1L; SPGF65"
                     /coded_by="NM_144666.3:581..14842"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS44532.1"
                     /db_xref="GeneID:144132"
                     /db_xref="HGNC:HGNC:26532"
                     /db_xref="MIM:617277"
ORIGIN      
        1 mvpeerrvgl ssdetssdsl kswhsicvld skeqplacqq kqrqfvkpvt eseqptvlel
       61 llaelrtlfs avlqdsspaa wrylhavlgl lppyrellvg hldllpfleq lycwapwvqt
      121 hlhldllgai vqafppdssl ldsashadcc pqkrrlhhrp pcpacpfvqa qwsrqqvkee
      181 latwlrpltl pelqrclgiv gaqvaleeav wldglsllpl alaadipvry essdtdnaev
      241 epvgrketrs qldyevprek afqksstgfs petsfldsqv mtalkmeryl kkihflylnv
      301 apsryfrpys lmvvppdkvn pehyifspfg ilhvhpvegs etmtlgtwhh hcvlwqqlqf
      361 ipffkycllr ksftcwkknv rlqglhrlqk flenhlllav phfgagllhi srllqelhsv
      421 swlpqeldrc yelldlqtal aeekhkalrl lhrclnlcts ilrlvhedty hmqqclqerv
      481 qncdrirtgq gsiylqrvqh kqleqklkqa eawwlqlgkf arlvdymicq slisvleeqi
      541 tsfvanilqa prqkpflssq lvfddhgqls hvpcvenmiq tltgglqsvk tsalqvvqsa
      601 dlktssdsly seeedeeeds kdeflmpkfq gqpsdavsif cgpnvglvwp wkshpiagil
      661 evrgcrlrgq yfphnykqle edldnnpkiq qalniqqvll egvlckvqef crehhwitgi
      721 yeflqswgpq kledmrggpi knyvtlvsrl nvwqarvssm pielltkggl lllschdvqa
      781 emesklnsir kdilahvqne cwnlsqqlmt eltdfmhifr tinsdihaia qctqklnean
      841 eqyveleerm eyvralheli rnhfslfsae nealdisvrr qfgespippc ppppqphllh
      901 cpllapqlld mweafqfeks qasefllskr haimpklqql maaalaeleg llakalsgpf
      961 mdptqdqrst ehqlvslerq fqntvsdlse lhhayaifte detpvplpic gtrpivqqqr
     1021 iwhlyrvise nisewkcmaf akfspamaqe ktegwlteaa rmsttlelhs pvlqhcmril
     1081 gefrsylpll tklgslhpqs lncqcllral glgslqtiel ltlgqlltyp llefadrinq
     1141 vwqnenerih aqetirrlqr ywearqlrll nfilhvpyep paserskrqv lrspqwevvd
     1201 kdsgtfilsd ysnlqdsiqe slqvlskila ieksgdlnki alewvaimhg lgallevwlt
     1261 fqqkwiflnk vlhemkiqfp nadlnsrfkv mddqyrtlmr isvadpmvls lvvpsaersp
     1321 yfqgqqlqql lqagsveleg iimslesvly gvcahfprlf flsdselval laarlescea
     1381 qlwvrrcfph vhavsfrscp tgekntddwe sspntqtqve alavlgagge evklqgplpl
     1441 hpdlpkwlas lekclrlalv hmlqgcvaar largpslgea lkqlpkqnkl ylqlyvqhwi
     1501 dlvqafpwqc vlvaeevvwr aemeeallew gtlamvsmhm rklevlvnfm raqrasqggq
     1561 slpsvrqtsl lsallvmavt hrdiaqlleq hqvsdltdfh wvrqlkyhlg sphiipkspl
     1621 qslktiasse pslspaacwi dvlgrsflyn yeylgprlgp lpsllperpa lvlllaleev
     1681 acgtvlgpng vgkraivnsl aqalgrqlvm lpcspqieaq clsnylngal qggawlllek
     1741 vhqlppglls algqrlgelh hlyaplyqea srntstidpt qpqllgssff ekhhvsvrlg
     1801 ygcllvlral ssavpanlhl llrpvalalp dlrqvaeltl lgagmrdafq matrlskffs
     1861 lerelvsgpl pcrlpllkqi ledtirtlnv tkeepkcqkp rslaaieeaa llrsplfsil
     1921 nglhlhnlrg llcalfpsas qvlaepmtyk lmkplvveel qqvgldpspd ilgsleqlsq
     1981 alsrasgill lgpagsgktt cwhslfkiqn rlaamedtst qgcqpveith lypsglspqe
     2041 flgwlegscw hhgifpkvlr aagqcnnmgq krqteesigi qhwiicdgas ngawldsitc
     2101 llselpqlsl psgqqiarpp gtfllmevad ttgisptvvg ccalvwcgge qtwqcilsal
     2161 maslpyeyrl qhrtvaelnh maevlvpatl rfltcqgvss llqvhgqqav cagvaevtsm
     2221 arilhslldl hlrlkeekap gpedlsysdp vaqsfrssks sflnrsqvds ddvpdkcreh
     2281 llavssflfa liwgfgahlp srfwpifdtf irdsisrlsn ypepppsalv fdlhvspedg
     2341 tlvpftgqyl sshikgtlgt fhpsiqterl lyvvdlllsg gqpvllagea atgksafvev
     2401 lvephhpyiy spihpafsss hlrlllsrgi qgqtqaspqp ghhqdskpsl lflledlhla
     2461 tsdpekscqp vletlrqamd gtvyahstle lqtlqptvnf latvtvpgyc erplcprlfr
     2521 lftvlalesm tqatllerhv piiqawlerf psvererala rglvrasvea weavcncfmp
     2581 splhphyhfs lhsvshllss lqllpnrtgs rgfvdypnhq ehlrrvsglr gtcltvmmat
     2641 rnvvrlwlhe aqrtfcdrld sprersycak lllvvaqsvf ccgpgpqhlg kdhqeseeee
     2701 eeervpeves egelaqwedf snsnseteee eepyglqvar vsnsrdpslt psigpvsrgm
     2761 kesishkirq ekgtrasnyr lqvrrsfktw wqkkpqmdli splllpvlll hpqekpsdlv
     2821 fsqelilgpn setpnlyler qwekleeqla tsaaqlklsp hlarchsmaq hvarlvrvla
     2881 rprqhgllls galgtgrhta itlassicqa hffhlpsgse eailqclrda swhagmlsqp
     2941 vallvpsgvd lttlhrllal atsgsfpgqy teadldrige hlprenlgvk qnikkemvlq
     3001 rfhqqvcshl hlffligdkq ahkqlpstlf lrllqlatas idryepwdqa alakvaqhhl
     3061 egaqsvpldd gswkypdlqa sipsvakama lihlsathyh ehlcpalplv tpktfldfld
     3121 tflmlqqqti lkiknkaqrv qnalenlrml ikehgthanl ifdleqqlkd sgkslsmfqq
     3181 qleqskllyk qqleecrhqe nlienlarqr dalqaqreaf leqmskafle plsqlqvadf
     3241 eeirsyrapp esvvrvtdam cdlfhhetgw asakqllcte dfyqelvffp kekitdseli
     3301 klhlilkapg mddaalravs rpaaslaawl wavlhyglah crglptdlll qqveatltre
     3361 qarlgyyqfq aqetlehnla lakmvedaqa shncvaktls qaqcgqyhkw pmkaalltpm
     3421 rawttqlqkl kgrcmtvfgd tllcsaaiiy lgpfpplrrq elldewlalc rgfqealgpd
     3481 dvaqalkrkq ksvsippknp llathspfsi lsllsseseq yqwdgnlkpq aksahlagll
     3541 lrspthyssc rwpllldpsn ealiwldplp leenrsfapa ltegrgkglm rnqkresktd
     3601 mkeeddesee sneaedqtke qkaeerkneq ekeqeeneek eeektesqgs kpayetqlps
     3661 lpylsvlsga dpelgsqlqe aaacglpvll tnvelglgce elqwllqreq lsppqvqpgf
     3721 clylsttlsl camekvlgce llkglnvldl glnmeileeq mlheilcrey peletrwqdl
     3781 kiraldtcka veaaeerllt mllfqnpkrq kpakflrniv raqgklcqlr ahceelegqk
     3841 lqemvlwapy rpvvwhgmam vkalsqlqnl lplfcmspen wlavtkqald smkpreinhg
     3901 edlashllql rahltrqllg stvtalgltq vplvgalgal allqatgkas elerlalwpg
     3961 laaspstvhs kpvsdvarpa wlgpkawhec emlellppfv glcaslaghs sawqaylsls
     4021 stvlgpapgp gpeplsllqk lilwrvlrpe clagaladft tsllgrplde ntyaptmpfk
     4081 hsqatqpmli llpppghpsa tlhpltviqk laakyqqgqk qlqvialgse awdpvsvvvs
     4141 tlsqamyegh wlvldnchlm phwpkellql llellgrakv vadleseqll dqpesrnvst
     4201 vhrdfrlwli vpaessaslp avltqhsmpv fwnqslelgh vlidsvelaq qvlymqpptq
     4261 alpllllhgl llhrqlygtr lqahrgrwsq vtltqvlqtq dqlwaslsnp raamqelaas
     4321 vfyggplgdt edrealislt qaclspssgs wvqphtpqsl latlmplpel reldamaeck
     4381 aqmhllpspp eprlcglseg pqawllrrqs rallsalqrs spvwvpesrr gaqlaerrlr
     4441 qrlvqvnrrl eslqdllthv irqdesdapw svlgpnarrp legvleteal elsqlvgtlq
     4501 rdldcllqql kgappcpsrr caavahalwt grlplpwrph apagpqppwh wlrqlsrrgq
     4561 llvrylgvga dassdvperv fhlsafrhpr rlllalrgea aldqnvpssn fpgsrgsvss
     4621 qlqykrlemn snplhfrven gpnptvperg llliglqvlh aewdpiagal qdspssqpsp
     4681 lppvsistqa pgtsdlpapa dltvyscpvy mggplgtakl qsrnivmhlp lptkltpntc
     4741 vqrrvhvcsp pls
//
