MKS1_DROME
ID MKS1_DROME Reviewed; 699 AA.
AC Q9VYM3; Q8T8W8;
DT 05-DEC-2018, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Tectonic-like complex member Mks1 {ECO:0000305};
DE AltName: Full=Meckel syndrome type 1 protein homolog {ECO:0000305};
GN Name=Mks1 {ECO:0000312|FlyBase:FBgn0030395};
GN Synonyms=B9d3 {ECO:0000303|PubMed:27646273};
GN ORFNames=CG15730 {ECO:0000312|FlyBase:FBgn0030395};
OS Drosophila melanogaster (Fruit fly).
OC Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota;
OC Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea;
OC Drosophilidae; Drosophila; Sophophora.
OX NCBI_TaxID=7227 {ECO:0000312|Proteomes:UP000000803};
RN [1] {ECO:0000312|Proteomes:UP000000803}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Berkeley {ECO:0000312|Proteomes:UP000000803};
RX PubMed=10731132; DOI=10.1126/science.287.5461.2185;
RA Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D.,
RA Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F.,
RA George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N.,
RA Sutton G.G., Wortman J.R., Yandell M.D., Zhang Q., Chen L.X., Brandon R.C.,
RA Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C.,
RA Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A.,
RA An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A.,
RA Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V.,
RA Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J.,
RA Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E.,
RA Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B.,
RA Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I.,
RA Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C.,
RA Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S.,
RA Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M.,
RA Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M.,
RA Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D.,
RA Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F.,
RA Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D.,
RA Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A.,
RA Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C.,
RA McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C.,
RA Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L.,
RA Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R.,
RA Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V.,
RA Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F.,
RA Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J.,
RA Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R.,
RA Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y.,
RA Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T.,
RA Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S.,
RA Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W.,
RA Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M.,
RA Venter J.C.;
RT "The genome sequence of Drosophila melanogaster.";
RL Science 287:2185-2195(2000).
RN [2] {ECO:0000312|Proteomes:UP000000803}
RP GENOME REANNOTATION.
RC STRAIN=Berkeley {ECO:0000312|Proteomes:UP000000803};
RX PubMed=12537572; DOI=10.1186/gb-2002-3-12-research0083;
RA Misra S., Crosby M.A., Mungall C.J., Matthews B.B., Campbell K.S.,
RA Hradecky P., Huang Y., Kaminker J.S., Millburn G.H., Prochnik S.E.,
RA Smith C.D., Tupy J.L., Whitfield E.J., Bayraktaroglu L., Berman B.P.,
RA Bettencourt B.R., Celniker S.E., de Grey A.D.N.J., Drysdale R.A.,
RA Harris N.L., Richter J., Russo S., Schroeder A.J., Shu S.Q., Stapleton M.,
RA Yamada C., Ashburner M., Gelbart W.M., Rubin G.M., Lewis S.E.;
RT "Annotation of the Drosophila melanogaster euchromatic genome: a systematic
RT review.";
RL Genome Biol. 3:RESEARCH0083.1-RESEARCH0083.22(2002).
RN [3] {ECO:0000312|EMBL:AAL68109.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Berkeley {ECO:0000312|EMBL:AAL68109.1};
RC TISSUE=Testis {ECO:0000312|EMBL:AAL68109.1};
RX PubMed=12537569; DOI=10.1186/gb-2002-3-12-research0080;
RA Stapleton M., Carlson J.W., Brokstein P., Yu C., Champe M., George R.A.,
RA Guarin H., Kronmiller B., Pacleb J.M., Park S., Wan K.H., Rubin G.M.,
RA Celniker S.E.;
RT "A Drosophila full-length cDNA resource.";
RL Genome Biol. 3:RESEARCH0080.1-RESEARCH0080.8(2002).
RN [4] {ECO:0000312|EMBL:AGW24088.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Berkeley {ECO:0000312|EMBL:AGW24088.1};
RA Carlson J., Booth B., Frise E., Park S., Wan K., Yu C., Celniker S.;
RL Submitted (SEP-2013) to the EMBL/GenBank/DDBJ databases.
RN [5] {ECO:0000305}
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=25447994; DOI=10.1016/j.cub.2014.09.047;
RA Basiri M.L., Ha A., Chadha A., Clark N.M., Polyanovsky A., Cook B.,
RA Avidor-Reiss T.;
RT "A migrating ciliary gate compartmentalizes the site of axoneme assembly in
RT Drosophila spermatids.";
RL Curr. Biol. 24:2622-2631(2014).
RN [6] {ECO:0000305}
RP FUNCTION, IDENTIFICATION IN THE MKS COMPLEX, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RX PubMed=27646273; DOI=10.1083/jcb.201603086;
RA Vieillard J., Paschaki M., Duteyrat J.L., Augiere C., Cortier E.,
RA Lapart J.A., Thomas J., Durand B.;
RT "Transition zone assembly and its contribution to axoneme formation in
RT Drosophila male germ cells.";
RL J. Cell Biol. 214:875-889(2016).
RN [7] {ECO:0000305}
RP FUNCTION, IDENTIFICATION IN THE MKS COMPLEX, SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND DISRUPTION PHENOTYPE.
RX PubMed=27577095; DOI=10.1242/jcs.194621;
RA Pratt M.B., Titlow J.S., Davis I., Barker A.R., Dawe H.R., Raff J.W.,
RA Roque H.;
RT "Drosophila sensory cilia lacking MKS proteins exhibit striking defects in
RT development but only subtle defects in adults.";
RL J. Cell Sci. 129:3732-3743(2016).
RN [8] {ECO:0000305}
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=30013109; DOI=10.1038/s41556-018-0132-1;
RA Jana S.C., Mendonca S., Machado P., Werner S., Rocha J., Pereira A.,
RA Maiato H., Bettencourt-Dias M.;
RT "Differential regulation of transition zone and centriole proteins
RT contributes to ciliary base diversity.";
RL Nat. Cell Biol. 20:928-941(2018).
CC -!- FUNCTION: Probable component of the tectonic-like complex (also named
CC MKS complex), a complex localized at the transition zone of primary
CC cilia (PubMed:27577095, PubMed:27646273). Required for ciliary
CC structure and function (PubMed:27577095). {ECO:0000269|PubMed:27577095,
CC ECO:0000269|PubMed:27646273}.
CC -!- SUBUNIT: Probable component of the tectonic-like complex (also named
CC MKS complex), composed of B9d1, B9d2, Cc2d2a, Mks1 and tctn.
CC {ECO:0000305|PubMed:27577095, ECO:0000305|PubMed:27646273}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:25447994, ECO:0000269|PubMed:27577095,
CC ECO:0000269|PubMed:27646273, ECO:0000269|PubMed:30013109}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome, centriole
CC {ECO:0000269|PubMed:27646273}. Note=Localizes at the transition zone
CC (TZ), a region between the basal body and the ciliary axoneme in the
CC olfactory, auditory and speromatocyte system (PubMed:27646273,
CC PubMed:30013109). In spermatocytes, localizes in the transition zone
CC and the migrating base of the spermatid ciliary cap (PubMed:25447994,
CC PubMed:27646273, PubMed:27577095). Co-localizes with the tectonic-like
CC complex (PubMed:27646273). {ECO:0000269|PubMed:25447994,
CC ECO:0000269|PubMed:27577095, ECO:0000269|PubMed:27646273,
CC ECO:0000269|PubMed:30013109}.
CC -!- TISSUE SPECIFICITY: Expressed in chordotonal neurons in the antennae
CC (at protein level) (PubMed:27646273). Expressed in spermatids (at
CC protein level) (PubMed:27646273, PubMed:25447994, PubMed:27577095).
CC {ECO:0000269|PubMed:25447994, ECO:0000269|PubMed:27577095,
CC ECO:0000269|PubMed:27646273}.
CC -!- DISRUPTION PHENOTYPE: Viable and fertile. Minor defects in sensory
CC cilia function probably due to lack of localization of the tectonic-
CC like module proteins, namely tcnt, B9d1, B9d2 and TMEM216, to the
CC transition zone. Does not affect the recruitment of Cep290
CC (PubMed:27577095). In sensory cells associated with the notum hair
CC socket, results in structural defects including axonemes with abnormal
CC microtubule connections to the basal body (BB); results in subtle
CC defects in the localization of intraflagellar transport (IFT) proteins
CC and an increase in the ratio of cilium volume to inner membrane volume
CC (PubMed:27577095). {ECO:0000269|PubMed:27577095}.
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DR EMBL; AE014298; AAF48169.1; -; Genomic_DNA.
DR EMBL; AY075242; AAL68109.1; -; mRNA.
DR EMBL; BT150306; AGW24088.1; -; mRNA.
DR RefSeq; NP_572804.1; NM_132576.2.
DR AlphaFoldDB; Q9VYM3; -.
DR STRING; 7227.FBpp0073500; -.
DR PaxDb; Q9VYM3; -.
DR EnsemblMetazoa; FBtr0073667; FBpp0073500; FBgn0030395.
DR GeneID; 32200; -.
DR KEGG; dme:Dmel_CG15730; -.
DR UCSC; CG15730-RA; d. melanogaster.
DR CTD; 54903; -.
DR FlyBase; FBgn0030395; Mks1.
DR VEuPathDB; VectorBase:FBgn0030395; -.
DR eggNOG; KOG4446; Eukaryota.
DR GeneTree; ENSGT00510000047471; -.
DR HOGENOM; CLU_393936_0_0_1; -.
DR InParanoid; Q9VYM3; -.
DR OMA; CEGYAHY; -.
DR OrthoDB; 1091079at2759; -.
DR PhylomeDB; Q9VYM3; -.
DR Reactome; R-DME-5610787; Hedgehog 'off' state.
DR BioGRID-ORCS; 32200; 0 hits in 1 CRISPR screen.
DR GenomeRNAi; 32200; -.
DR PRO; PR:Q9VYM3; -.
DR Proteomes; UP000000803; Chromosome X.
DR Bgee; FBgn0030395; Expressed in testis and 2 other tissues.
DR GO; GO:0005814; C:centriole; IEA:UniProtKB-SubCell.
DR GO; GO:0061822; C:ciliary cap; IDA:FlyBase.
DR GO; GO:0035869; C:ciliary transition zone; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0036038; C:MKS complex; ISS:FlyBase.
DR GO; GO:0035082; P:axoneme assembly; IMP:FlyBase.
DR GO; GO:1905349; P:ciliary transition zone assembly; IMP:FlyBase.
DR GO; GO:0060271; P:cilium assembly; IBA:GO_Central.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:FlyBase.
DR InterPro; IPR010796; C2_B9-type_dom.
DR PANTHER; PTHR12968; PTHR12968; 1.
DR Pfam; PF07162; B9-C2; 1.
DR PROSITE; PS51381; C2_B9; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW Reference proteome.
FT CHAIN 1..699
FT /note="Tectonic-like complex member Mks1"
FT /evidence="ECO:0000305"
FT /id="PRO_0000445802"
FT DOMAIN 434..560
FT /note="C2 B9-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00713"
FT REGION 100..121
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 373..396
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 632..661
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 102..121
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 369
FT /note="A -> V (in Ref. 3; AAL68109)"
FT /evidence="ECO:0000305"
FT CONFLICT 538
FT /note="A -> T (in Ref. 3; AAL68109)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 699 AA; 80084 MW; F8E25CCC0BD5996F CRC64;
MQKSRDIKRT GVYRVSGNIG DLQLELKLRH ISEWLPVPKF EYAGAQSTNA YGDHYPGSEE
DIWQDCYIHV PQGDDSCGGK TGLGYNCSYY NVGIGYTGRR RRSPISQHEG EMEKDKNEGE
ITDLESQSNR SWSILSDNSR PPAGDLFYKR NKELCNGAIA TIRISWQQKH FSQAELEQYI
NNPGSCASKL QRRYHRWALE TLKLQQRYLR KLENLEDAET VEDPEPITIR RRIRKPKAKQ
RGCSAAAHPT ITSLSSANMS EVSILDDPNF AARTCLIHTL LDNDSESLMP AEASEFHKKG
YQLMYIYADL QQDTLLVSIR YDPEQGLLYV YPDFSSSAQD LDYVIQIERN NDCRQLYAFG
FENVTPLEAY DDDGFSEEAD GEDEQELGDG LPIEEDLPEE ASAEEILEFY RRRREAASER
RSLLQFEMPP KRMKRVSLLL ELQEGQNFEN PNIHVRYYLK APANTFYEGT PGVDTMQGAT
ATCRNAGDWR SAHLGHCWQV TLLLEEQHHP ADLLHLYFEV ISIDSWQRER CEGYAHYAIP
LTSALPTDSI RLQCIRPLGN WLDALNRYFI GGRQLFDFES FFDVHRQSEM HSRLNFNSDR
PMTTTGTLSL RLQKLQQRQI DTSDQFHHHF HLELGNDSSD DGDSNDDDVR SSSNPDTSRA
TTLDEVMAAF VEARKRIELL LGNSSETASP SSAYYQAEF
