ID   DAAF9_HUMAN             Reviewed;        1177 AA.
AC   Q5TEA3; Q66K86; Q6P2R9; Q9UFX9;
DT   16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT   21-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 120.
DE   RecName: Full=Dynein axonemal assembly factor 9 {ECO:0000305};
DE            Short=DNAAF9 {ECO:0000305};
GN   Name=DNAAF9 {ECO:0000312|HGNC:HGNC:17721}; Synonyms=C20orf194;
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 GENOMIC DNA].
RX   PubMed=11780052; DOI=10.1038/414865a;
RA   Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA   Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA   Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA   Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA   Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA   Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA   Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA   Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA   Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA   Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA   Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA   Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA   Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA   Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA   Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA   Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA   Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA   Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA   Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA   Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA   Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 20.";
RL   Nature 414:865-871(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 311-1177, AND VARIANT GLY-577.
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 MRNA] OF 750-1177.
RC   TISSUE=Kidney, and Liver;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [5]
RP   INTERACTION WITH ARL3, AND POSSIBLE FUNCTION.
RX   PubMed=22085962; DOI=10.1101/gad.173443.111;
RA   Wright K.J., Baye L.M., Olivier-Mason A., Mukhopadhyay S., Sang L.,
RA   Kwong M., Wang W., Pretorius P.R., Sheffield V.C., Sengupta P.,
RA   Slusarski D.C., Jackson P.K.;
RT   "An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary
RT   cilium.";
RL   Genes Dev. 25:2347-2360(2011).
RN   [6]
RP   VARIANT LEU-265.
RX   PubMed=21683323; DOI=10.1016/j.ajhg.2011.05.015;
RA   Kobayashi H., Abe K., Matsuura T., Ikeda Y., Hitomi T., Akechi Y., Habu T.,
RA   Liu W., Okuda H., Koizumi A.;
RT   "Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36,
RT   a type of spinocerebellar ataxia accompanied by motor neuron involvement.";
RL   Am. J. Hum. Genet. 89:121-130(2011).
CC   -!- FUNCTION: May act as an effector for ARL3.
CC   -!- SUBUNIT: Interacts with ARL3. {ECO:0000269|PubMed:22085962}.
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DR   EMBL; AL117334; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL109976; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL110249; CAB53697.1; -; mRNA.
DR   EMBL; BC064352; AAH64352.1; -; mRNA.
DR   EMBL; BC080528; AAH80528.1; -; mRNA.
DR   CCDS; CCDS42851.1; -.
DR   PIR; T14777; T14777.
DR   RefSeq; NP_001009984.1; NM_001009984.2.
DR   AlphaFoldDB; Q5TEA3; -.
DR   BioGRID; 117440; 4.
DR   DIP; DIP-61818N; -.
DR   IntAct; Q5TEA3; 2.
DR   STRING; 9606.ENSP00000252032; -.
DR   iPTMnet; Q5TEA3; -.
DR   PhosphoSitePlus; Q5TEA3; -.
DR   BioMuta; C20orf194; -.
DR   DMDM; 74746271; -.
DR   EPD; Q5TEA3; -.
DR   MassIVE; Q5TEA3; -.
DR   MaxQB; Q5TEA3; -.
DR   PaxDb; Q5TEA3; -.
DR   PeptideAtlas; Q5TEA3; -.
DR   PRIDE; Q5TEA3; -.
DR   ProteomicsDB; 65039; -.
DR   Antibodypedia; 23528; 77 antibodies from 16 providers.
DR   DNASU; 25943; -.
DR   Ensembl; ENST00000252032.10; ENSP00000252032.9; ENSG00000088854.13.
DR   GeneID; 25943; -.
DR   KEGG; hsa:25943; -.
DR   MANE-Select; ENST00000252032.10; ENSP00000252032.9; NM_001009984.3; NP_001009984.1.
DR   UCSC; uc002wii.4; human.
DR   CTD; 25943; -.
DR   DisGeNET; 25943; -.
DR   GeneCards; DNAAF9; -.
DR   HGNC; HGNC:17721; DNAAF9.
DR   HPA; ENSG00000088854; Low tissue specificity.
DR   MIM; 614146; gene.
DR   neXtProt; NX_Q5TEA3; -.
DR   OpenTargets; ENSG00000088854; -.
DR   PharmGKB; PA134905007; -.
DR   VEuPathDB; HostDB:ENSG00000088854; -.
DR   eggNOG; ENOG502QUJP; Eukaryota.
DR   GeneTree; ENSGT00390000003692; -.
DR   HOGENOM; CLU_008324_0_0_1; -.
DR   InParanoid; Q5TEA3; -.
DR   OMA; KMTFHIH; -.
DR   OrthoDB; 226711at2759; -.
DR   PhylomeDB; Q5TEA3; -.
DR   TreeFam; TF329802; -.
DR   PathwayCommons; Q5TEA3; -.
DR   SignaLink; Q5TEA3; -.
DR   BioGRID-ORCS; 25943; 12 hits in 1070 CRISPR screens.
DR   ChiTaRS; C20orf194; human.
DR   GenomeRNAi; 25943; -.
DR   Pharos; Q5TEA3; Tdark.
DR   PRO; PR:Q5TEA3; -.
DR   Proteomes; UP000005640; Chromosome 20.
DR   RNAct; Q5TEA3; protein.
DR   Bgee; ENSG00000088854; Expressed in secondary oocyte and 189 other tissues.
DR   Genevisible; Q5TEA3; HS.
DR   InterPro; IPR040342; C20orf194-like.
DR   PANTHER; PTHR33664; PTHR33664; 1.
PE   1: Evidence at protein level;
KW   Reference proteome.
FT   CHAIN           1..1177
FT                   /note="Dynein axonemal assembly factor 9"
FT                   /id="PRO_0000236042"
FT   REGION          1..27
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         86
FT                   /note="T -> M (in dbSNP:rs8124486)"
FT                   /id="VAR_059637"
FT   VARIANT         265
FT                   /note="F -> L (in dbSNP:rs149767043)"
FT                   /evidence="ECO:0000269|PubMed:21683323"
FT                   /id="VAR_065913"
FT   VARIANT         481
FT                   /note="T -> P (in dbSNP:rs16988463)"
FT                   /id="VAR_050923"
FT   VARIANT         577
FT                   /note="R -> G (in dbSNP:rs2422864)"
FT                   /evidence="ECO:0000269|PubMed:17974005"
FT                   /id="VAR_050924"
FT   CONFLICT        345
FT                   /note="F -> L (in Ref. 2; CAB53697)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1177 AA;  132287 MW;  9CDC79CC97B6DB1D CRC64;
     MDVYPPRRQG LPRARSPGGS SRGSPSVSCS RLRQVQSILT QSSKSRPDGI LCILGIDSRY
     NEGCRELANY LLFGLYNQNT SDFEKTGFSE EVLDDVIILI KSDSVHLYCN PVNFRYLLPY
     VAHWRNLHFH CMTENEYEDE EAAEEFKITS FVDMVRDCSR IGIPYSSQGH LQIFDMFVVE
     KWPIVQAFAL EGIGGDGFFT MKYELQDVSL NLWNVYSKMD PMSLESLLSD DLVAFEHQWT
     SFFANFDTEI PFLLELSESQ AGEPFRSYFS HGMISSHITE NSPNRQPFVL FGNHSTRENL
     NAGNFNFPSE GHLVRSTGPG GSFAKHMVAQ CVSPKGPLAC SRTYFFGATH VPYLGGDSKL
     PKKTEQIRLL SQIYAAVIEA VLAGIACYAK TSSLTKAKEV AEQTLGSGLD SFELIPFKAA
     LRSKMTFHIH AVNNQGRIVP LDSEDSLSFV KTACMAVYDI PDLLGGNGCL GSVVFSESFL
     TSQILVKEKD GTVTTETSSV VLTAAVPRFC SWLVEDNEVK LSEKTQQAVR GDESFLGTYL
     TGGEGAYLYS SNLQSWPEEG NVHFFSSGLL FSHCRHRSII ISKDHMNSIS FYDGDSTSTV
     AALLIDFKSS LLPHLPVHFH GSSNFLMIAL FPKSKIYQAF YSEVFSLWKQ QDNSGISLKV
     IQEDGLSVEQ KRLHSSAQKL FSALSQPAGE KRSSLKLLSA KLPELDWFLQ HFAISSISQE
     PVMRTHLPVL LQQAEINTTH RIESDKVIIS IVTGLPGCHA SELCAFLVTL HKECGRWMVY
     RQIMDSSECF HAAHFQRYLS SALEAQQNRS ARQSAYIRKK TRLLVVLQGY TDVIDVVQAL
     QTHPDSNVKA SFTIGAITAC VEPMSCYMEH RFLFPKCLDQ CSQGLVSNVV FTSHTTEQRH
     PLLVQLQSLI RAANPAAAFI LAENGIVTRN EDIELILSEN SFSSPEMLRS RYLMYPGWYE
     GKLNAGSVYP LMVQICVWFG RPLEKTRFVA KCKAIQSSIK PSPFSGNIYH ILGKVKFSDS
     ERTMEVCYNT LANSLSIMPV LEGPTPPPDS KSVSQDSSGQ QECYLVFIGC SLKEDSIKDW
     LRQSAKQKPQ RKALKTRGML TQQEIRSIHV KRHLEPLPAG YFYNGTQFVN FFGDKTDFHP
     LMDQFMNDYV EEANREIEKY NQELEQQEYH DLFELKP