AXDN1_HUMAN
ID AXDN1_HUMAN Reviewed; 1012 AA.
AC Q5T1B0; Q6AWB2; Q96LJ3; Q96M01;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=Axonemal dynein light chain domain-containing protein 1;
GN Name=AXDND1; Synonyms=C1orf125;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5T1B0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T1B0-2; Sequence=VSP_024704, VSP_024705, VSP_024706;
CC Name=3;
CC IsoId=Q5T1B0-3; Sequence=VSP_024703, VSP_024707, VSP_024708;
CC -!- SEQUENCE CAUTION:
CC Sequence=CAH10571.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK057502; BAB71513.1; -; mRNA.
DR EMBL; AK058167; BAB71698.1; -; mRNA.
DR EMBL; BX647935; CAH10571.1; ALT_FRAME; mRNA.
DR EMBL; AL160286; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL451075; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS30948.1; -. [Q5T1B0-1]
DR RefSeq; NP_653297.3; NM_144696.5. [Q5T1B0-1]
DR AlphaFoldDB; Q5T1B0; -.
DR SMR; Q5T1B0; -.
DR BioGRID; 126021; 10.
DR IntAct; Q5T1B0; 4.
DR STRING; 9606.ENSP00000356590; -.
DR iPTMnet; Q5T1B0; -.
DR PhosphoSitePlus; Q5T1B0; -.
DR BioMuta; AXDND1; -.
DR DMDM; 74744440; -.
DR jPOST; Q5T1B0; -.
DR MassIVE; Q5T1B0; -.
DR PaxDb; Q5T1B0; -.
DR PeptideAtlas; Q5T1B0; -.
DR PRIDE; Q5T1B0; -.
DR ProteomicsDB; 64252; -. [Q5T1B0-1]
DR ProteomicsDB; 64253; -. [Q5T1B0-2]
DR Antibodypedia; 50119; 41 antibodies from 10 providers.
DR DNASU; 126859; -.
DR Ensembl; ENST00000367618.8; ENSP00000356590.3; ENSG00000162779.22. [Q5T1B0-1]
DR GeneID; 126859; -.
DR KEGG; hsa:126859; -.
DR MANE-Select; ENST00000367618.8; ENSP00000356590.3; NM_144696.6; NP_653297.3.
DR UCSC; uc001gmo.3; human. [Q5T1B0-1]
DR CTD; 126859; -.
DR DisGeNET; 126859; -.
DR GeneCards; AXDND1; -.
DR HGNC; HGNC:26564; AXDND1.
DR HPA; ENSG00000162779; Tissue enriched (testis).
DR MalaCards; AXDND1; -.
DR neXtProt; NX_Q5T1B0; -.
DR OpenTargets; ENSG00000162779; -.
DR PharmGKB; PA142672443; -.
DR VEuPathDB; HostDB:ENSG00000162779; -.
DR eggNOG; ENOG502QSV4; Eukaryota.
DR GeneTree; ENSGT00390000005554; -.
DR InParanoid; Q5T1B0; -.
DR OMA; LKKECYE; -.
DR OrthoDB; 370082at2759; -.
DR PhylomeDB; Q5T1B0; -.
DR TreeFam; TF314891; -.
DR PathwayCommons; Q5T1B0; -.
DR SignaLink; Q5T1B0; -.
DR BioGRID-ORCS; 126859; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; AXDND1; human.
DR GenomeRNAi; 126859; -.
DR Pharos; Q5T1B0; Tdark.
DR PRO; PR:Q5T1B0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T1B0; protein.
DR Bgee; ENSG00000162779; Expressed in sperm and 106 other tissues.
DR ExpressionAtlas; Q5T1B0; baseline and differential.
DR Genevisible; Q5T1B0; HS.
DR InterPro; IPR019347; Axonemal_dynein_light_chain.
DR Pfam; PF10211; Ax_dynein_light; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..1012
FT /note="Axonemal dynein light chain domain-containing
FT protein 1"
FT /id="PRO_0000284868"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 841..879
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 963..1012
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 317..402
FT /evidence="ECO:0000255"
FT COILED 447..486
FT /evidence="ECO:0000255"
FT COILED 572..597
FT /evidence="ECO:0000255"
FT COMPBIAS 1..21
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 852..879
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 963..982
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 983..997
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 998..1012
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..768
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024703"
FT VAR_SEQ 1..212
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024704"
FT VAR_SEQ 600..655
FT /note="GYSKILPSLISSLDFCSFKLENLEFPDTPLEEWQEIDEKINEMKSHLDILLN
FT LTGI -> ETGSHRVAQAGLKLLGSSDHPTSAPQSAGIRGIIHRTWPWVNFYIVCEVTP
FT KFFQV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024705"
FT VAR_SEQ 656..1012
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024706"
FT VAR_SEQ 906..908
FT /note="RES -> KKV (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024707"
FT VAR_SEQ 909..1012
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024708"
FT VARIANT 522
FT /note="I -> L (in dbSNP:rs11577579)"
FT /id="VAR_050705"
FT VARIANT 742
FT /note="A -> V (in dbSNP:rs17369441)"
FT /id="VAR_031841"
FT VARIANT 991
FT /note="E -> Q (in dbSNP:rs6425573)"
FT /id="VAR_031842"
FT VARIANT 993
FT /note="Q -> E (in dbSNP:rs6658180)"
FT /id="VAR_050706"
SQ SEQUENCE 1012 AA; 118027 MW; 68FAFA863A251F87 CRC64;
MSLPKTPSTP LNSTSTSESK KLKVSVAKEG TRGLPELKEK KNMVDRSKLL PTSLQNEFIP
KEVLLSLTYA ANAGPCPENL LPPKKIKTPK GTLPRLVDHV WHHPVRRNKF KYLIDHPVSL
TGAGRDISFL YDVTYAKGQT REKAVCPPHL ARSLQSHDGV IVPHKPKTLT DTLIPEEFHI
VSSTGVSGLE CYDDKYTTLL TDSENRLLLF PSMKPNKRVE VAQLNDVMDT MLERAGVENQ
EYTGPTKMHK LLHILKKEQT IYNMIFHELI RQVSVDCADR GELLSKVRER YVQMLDQIAR
QMIDFYKDLV TQRVMDQRIL EELYNFKHVI EELTRELCLV RAHDVKLTKE TEKAHKDLAQ
ALLNAEKNAK IVEEYHDLYT LQRERMENDM KKLVAERDIW SSATYELALK VIERNRVILA
RRLYLNEKGW NKYTKHFIIL LSNKDTEDLA LLQKLTQKWR NLVNKLKQEV EQMEESTSET
LKIVKDGLIK WQEFFNEKDI LSPNKGNIFN SVLLDFKQWQ KILNEKKEEF TGDVLLSKYD
TLKIIKHLQE NWADIGLGIF NRHKSLEGEM PSERQYMEEI IKNIQKLYKE YEIRINGDNG
YSKILPSLIS SLDFCSFKLE NLEFPDTPLE EWQEIDEKIN EMKSHLDILL NLTGIVPQHI
DVDSVSVLQA YIFNMIQQWL LKIGNEINNG NIELQHHMDE LHISMIQWMV NLLILMIPNF
TDQDCLLKLE EESAEKHDIG VARLELDAIE LTRKLYQYSS YLSSCCKGMV TAMALSKSTN
SHKNATEDLY EVDKLKKECY EWINTCSCLL SNIKGRKITL LTYEEIERLL EEEAVKEFIE
PEIDESFKED EEESKEDRKL QEENKERAEE QPSTSTEKEK LIRFIGEDEN VHSKPLFETD
VLSSWRESAK QGTLAQKYLE AMAVIEHMQE KLLEVENRAR QAEEKFEDAY EKLHHTLIKN
KDLEELVMTS RKESKEEKEN QDEREVKEEE EQQEEEEVRS AENSSKSPKK GH
