ARMC9_DANRE
ID ARMC9_DANRE Reviewed; 817 AA.
AC E7F187;
DT 18-JUL-2018, integrated into UniProtKB/Swiss-Prot.
DT 18-JUL-2018, sequence version 3.
DT 03-AUG-2022, entry version 74.
DE RecName: Full=LisH domain-containing protein ARMC9;
DE AltName: Full=Armadillo repeat-containing protein 9;
GN Name=armc9 {ECO:0000312|ZFIN:ZDB-GENE-100922-67};
GN Synonyms=si:ch1073-404h7.1;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP TISSUE SPECIFICITY, FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=28625504; DOI=10.1016/j.ajhg.2017.05.010;
RA Van De Weghe J.C., Rusterholz T.D.S., Latour B., Grout M.E., Aldinger K.A.,
RA Shaheen R., Dempsey J.C., Maddirevula S., Cheng Y.H., Phelps I.G.,
RA Gesemann M., Goel H., Birk O.S., Alanzi T., Rawashdeh R., Khan A.O.,
RA Bamshad M.J., Nickerson D.A., Neuhauss S.C.F., Dobyns W.B., Alkuraya F.S.,
RA Roepman R., Bachmann-Gagescu R., Doherty D.;
RT "Mutations in ARMC9, which encodes a basal body protein, cause Joubert
RT syndrome in humans and ciliopathy phenotypes in zebrafish.";
RL Am. J. Hum. Genet. 101:23-36(2017).
CC -!- FUNCTION: Involved in ciliogenesis (PubMed:28625504). It is required
CC for appropriate acetylation and polyglutamylation of ciliary
CC microtubules, and regulation of cilium length (By similarity). Acts as
CC a positive regulator of hedgehog (Hh) signaling (By similarity).
CC {ECO:0000250|UniProtKB:Q9D2I5, ECO:0000269|PubMed:28625504}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000250|UniProtKB:Q7Z3E5}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q9D2I5}. Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome, centriole
CC {ECO:0000250|UniProtKB:Q7Z3E5}. Note=Localized to the proximal region
CC in cilia. Stimulation of Hh signaling leads to redistribution of ARMC9
CC toward the ciliary tip within 6 hours, follow by a gradual return to
CC its original proximal location (By similarity). Localizes to the
CC daughter centriole of the primary cilium in RPE1 cells (By similarity).
CC {ECO:0000250|UniProtKB:Q7Z3E5, ECO:0000250|UniProtKB:Q9D2I5}.
CC -!- TISSUE SPECIFICITY: Expressed in multiple CNS regions, including the
CC cerebellum, all periventricular regions, and all layers of the retina.
CC {ECO:0000269|PubMed:28625504}.
CC -!- DISRUPTION PHENOTYPE: Embryos with CRISPR-induced armc9 null mutations
CC show curved body shape, retinal dystrophy, coloboma, reduced cilia
CC number in ventricles, and shortened cilia in photoreceptor outer
CC segments. {ECO:0000269|PubMed:28625504}.
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DR EMBL; CABZ01045213; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABZ01045214; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABZ01045215; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABZ01045216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABZ01045217; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CABZ01045218; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU570975; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU634013; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_017208939.1; XM_017353450.1.
DR AlphaFoldDB; E7F187; -.
DR SMR; E7F187; -.
DR STRING; 7955.ENSDARP00000107015; -.
DR PeptideAtlas; E7F187; -.
DR ZFIN; ZDB-GENE-100922-67; armc9.
DR eggNOG; ENOG502QQ9W; Eukaryota.
DR HOGENOM; CLU_007962_1_0_1; -.
DR InParanoid; E7F187; -.
DR OrthoDB; 1327587at2759; -.
DR TreeFam; TF317676; -.
DR PRO; PR:E7F187; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0005814; C:centriole; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0097542; C:ciliary tip; ISS:UniProtKB.
DR GO; GO:0005929; C:cilium; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0045880; P:positive regulation of smoothened signaling pathway; ISS:UniProtKB.
DR Gene3D; 1.25.10.10; -; 1.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR040369; ARMC9.
DR InterPro; IPR006594; LisH.
DR PANTHER; PTHR14881; PTHR14881; 1.
DR SMART; SM00667; LisH; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
DR PROSITE; PS50896; LISH; 1.
PE 2: Evidence at transcript level;
KW Cell projection; Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..817
FT /note="LisH domain-containing protein ARMC9"
FT /id="PRO_0000444717"
FT DOMAIN 15..47
FT /note="LisH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00126"
FT REGION 580..605
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 610..629
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 642..817
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 586..605
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 644..671
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 693..724
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 737..752
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 781..817
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 817 AA; 92179 MW; E3496E1B785F7507 CRC64;
MSFKKSLKMG ENLASESDLL SMISEYLKFG EFEETARTFE KEVKRKGKPA LKSAGASRRD
SKIISIYEDF LSSFNDGDYK VFSELWAKNI PPEIRDFDPV AQKLEFYLQI HFTIYPLKSP
LGSHDKAEFD SRITHFRHYL ETRGAALSQT TEFLPFYALP FVPNPMVHPS FQELFQDSWM
PDLRDRMEKF LTVTLKASNT PRLLALYNDA GKGNKEAIQQ MQLQLTEAER KSAVHIRRFA
KLQADHHNLI GVTAELVDSL EATVRGKMIS PEYLQGVCVR LFSGNMRQSA AQSLDFTRPG
TASSMLRASV APQRPKDVPL LPSLDYEKLK KDLLTGSDRL KALLLQALRW RLTRSLHGEQ
RDTVLQAFIS NDLLERYSNK QKTVLHLIKC KNEIVRQYTA RLINAFASLC DGRLYLSQIP
ALLPFLLDCL KTEEKESVTR ENVLAALQKL SLRRAQQSAM IRDGLIGWLV KELNDSDCLS
DYTLEYAISL LMNLCLRTQG KKRCAEEAKY VLKVLTELLG HENHEIRYYV NGALYSILSV
PEIREEAKQM SMEEILRCYN KEENPELNRQ IEFIIKQLNS ATIPEQEPES DDEEDEDDDD
DEEDVMEADL DKEEVLQPQP KELSGESLLT TEYLGIMTNM MKTKRRSCPP SSRSIDEPLQ
RPVTPSSHKN TIAGGEGVYP VTRQRSEDSR FSSRPATRTG SRPSTAESIH QTLATDSDCW
RSSVESGLMG SPERHVPAPG QTTNSVQSYS GHMVGFASRP KIPRTPDSDA GSAGRSRLPP
LAPQFSNSEP QQSGSRPGSA GGSSGRPSQQ SSQSNRK
