ID   MKS1_RAT                Reviewed;         561 AA.
AC   Q499Q5;
DT   07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT   07-MAR-2006, sequence version 2.
DT   03-AUG-2022, entry version 84.
DE   RecName: Full=Tectonic-like complex member MKS1 {ECO:0000305};
DE   AltName: Full=Meckel syndrome type 1 protein homolog;
GN   Name=Mks1;
OS   Rattus norvegicus (Rat).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Rattus.
OX   NCBI_TaxID=10116;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Brown Norway;
RX   PubMed=15057822; DOI=10.1038/nature02426;
RA   Gibbs R.A., Weinstock G.M., Metzker M.L., Muzny D.M., Sodergren E.J.,
RA   Scherer S., Scott G., Steffen D., Worley K.C., Burch P.E., Okwuonu G.,
RA   Hines S., Lewis L., Deramo C., Delgado O., Dugan-Rocha S., Miner G.,
RA   Morgan M., Hawes A., Gill R., Holt R.A., Adams M.D., Amanatides P.G.,
RA   Baden-Tillson H., Barnstead M., Chin S., Evans C.A., Ferriera S.,
RA   Fosler C., Glodek A., Gu Z., Jennings D., Kraft C.L., Nguyen T.,
RA   Pfannkoch C.M., Sitter C., Sutton G.G., Venter J.C., Woodage T., Smith D.,
RA   Lee H.-M., Gustafson E., Cahill P., Kana A., Doucette-Stamm L.,
RA   Weinstock K., Fechtel K., Weiss R.B., Dunn D.M., Green E.D.,
RA   Blakesley R.W., Bouffard G.G., De Jong P.J., Osoegawa K., Zhu B., Marra M.,
RA   Schein J., Bosdet I., Fjell C., Jones S., Krzywinski M., Mathewson C.,
RA   Siddiqui A., Wye N., McPherson J., Zhao S., Fraser C.M., Shetty J.,
RA   Shatsman S., Geer K., Chen Y., Abramzon S., Nierman W.C., Havlak P.H.,
RA   Chen R., Durbin K.J., Egan A., Ren Y., Song X.-Z., Li B., Liu Y., Qin X.,
RA   Cawley S., Cooney A.J., D'Souza L.M., Martin K., Wu J.Q.,
RA   Gonzalez-Garay M.L., Jackson A.R., Kalafus K.J., McLeod M.P.,
RA   Milosavljevic A., Virk D., Volkov A., Wheeler D.A., Zhang Z., Bailey J.A.,
RA   Eichler E.E., Tuzun E., Birney E., Mongin E., Ureta-Vidal A., Woodwark C.,
RA   Zdobnov E., Bork P., Suyama M., Torrents D., Alexandersson M., Trask B.J.,
RA   Young J.M., Huang H., Wang H., Xing H., Daniels S., Gietzen D., Schmidt J.,
RA   Stevens K., Vitt U., Wingrove J., Camara F., Mar Alba M., Abril J.F.,
RA   Guigo R., Smit A., Dubchak I., Rubin E.M., Couronne O., Poliakov A.,
RA   Huebner N., Ganten D., Goesele C., Hummel O., Kreitler T., Lee Y.-A.,
RA   Monti J., Schulz H., Zimdahl H., Himmelbauer H., Lehrach H., Jacob H.J.,
RA   Bromberg S., Gullings-Handley J., Jensen-Seaman M.I., Kwitek A.E.,
RA   Lazar J., Pasko D., Tonellato P.J., Twigger S., Ponting C.P., Duarte J.M.,
RA   Rice S., Goodstadt L., Beatson S.A., Emes R.D., Winter E.E., Webber C.,
RA   Brandt P., Nyakatura G., Adetobi M., Chiaromonte F., Elnitski L.,
RA   Eswara P., Hardison R.C., Hou M., Kolbe D., Makova K., Miller W.,
RA   Nekrutenko A., Riemer C., Schwartz S., Taylor J., Yang S., Zhang Y.,
RA   Lindpaintner K., Andrews T.D., Caccamo M., Clamp M., Clarke L., Curwen V.,
RA   Durbin R.M., Eyras E., Searle S.M., Cooper G.M., Batzoglou S., Brudno M.,
RA   Sidow A., Stone E.A., Payseur B.A., Bourque G., Lopez-Otin C., Puente X.S.,
RA   Chakrabarti K., Chatterji S., Dewey C., Pachter L., Bray N., Yap V.B.,
RA   Caspi A., Tesler G., Pevzner P.A., Haussler D., Roskin K.M., Baertsch R.,
RA   Clawson H., Furey T.S., Hinrichs A.S., Karolchik D., Kent W.J.,
RA   Rosenbloom K.R., Trumbower H., Weirauch M., Cooper D.N., Stenson P.D.,
RA   Ma B., Brent M., Arumugam M., Shteynberg D., Copley R.R., Taylor M.S.,
RA   Riethman H., Mudunuri U., Peterson J., Guyer M., Felsenfeld A., Old S.,
RA   Mockrin S., Collins F.S.;
RT   "Genome sequence of the Brown Norway rat yields insights into mammalian
RT   evolution.";
RL   Nature 428:493-521(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-561.
RC   TISSUE=Prostate;
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   [3]
RP   FUNCTION.
RX   PubMed=19515853; DOI=10.1093/hmg/ddp272;
RA   Tammachote R., Hommerding C.J., Sinders R.M., Miller C.A., Czarnecki P.G.,
RA   Leightner A.C., Salisbury J.L., Ward C.J., Torres V.E., Gattone V.H. II,
RA   Harris P.C.;
RT   "Ciliary and centrosomal defects associated with mutation and depletion of
RT   the Meckel syndrome genes MKS1 and MKS3.";
RL   Hum. Mol. Genet. 18:3311-3323(2009).
CC   -!- FUNCTION: Component of the tectonic-like complex, a complex localized
CC       at the transition zone of primary cilia and acting as a barrier that
CC       prevents diffusion of transmembrane proteins between the cilia and
CC       plasma membranes (By similarity). Involved in centrosome migration to
CC       the apical cell surface during early ciliogenesis. Required for ciliary
CC       structure and function, including a role in regulating length and
CC       appropriate number through modulating centrosome duplication. Required
CC       for cell branching morphology. {ECO:0000250,
CC       ECO:0000269|PubMed:19515853}.
CC   -!- SUBUNIT: Part of the tectonic-like complex (also named B9 complex) (By
CC       similarity). Interacts with TMEM107 (By similarity). Interacts with
CC       TCTN3, AHI1, TCTN1, TCTN2, CC2D2A (By similarity). Interacts with FLNA.
CC       Interacts with TMEM67 (By similarity). Interacts with B9D1 and B9D2 (By
CC       similarity). {ECO:0000250|UniProtKB:Q5SW45,
CC       ECO:0000250|UniProtKB:Q9NXB0}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC       {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center,
CC       centrosome {ECO:0000250}. Note=Localizes at the transition zone, a
CC       region between the basal body and the ciliary axoneme. {ECO:0000250}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH99806.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AABR03074131; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC099806; AAH99806.1; ALT_INIT; mRNA.
DR   RefSeq; NP_001030089.2; NM_001034917.2.
DR   AlphaFoldDB; Q499Q5; -.
DR   STRING; 10116.ENSRNOP00000011500; -.
DR   PaxDb; Q499Q5; -.
DR   GeneID; 287612; -.
DR   KEGG; rno:287612; -.
DR   CTD; 54903; -.
DR   RGD; 1565186; Mks1.
DR   eggNOG; KOG4446; Eukaryota.
DR   InParanoid; Q499Q5; -.
DR   OrthoDB; 1091079at2759; -.
DR   PhylomeDB; Q499Q5; -.
DR   Reactome; R-RNO-5610787; Hedgehog 'off' state.
DR   Reactome; R-RNO-5620912; Anchoring of the basal body to the plasma membrane.
DR   PRO; PR:Q499Q5; -.
DR   Proteomes; UP000002494; Unplaced.
DR   GO; GO:0005814; C:centriole; ISO:RGD.
DR   GO; GO:0005813; C:centrosome; ISS:UniProtKB.
DR   GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR   GO; GO:0035869; C:ciliary transition zone; ISO:RGD.
DR   GO; GO:0005737; C:cytoplasm; ISO:RGD.
DR   GO; GO:0016020; C:membrane; ISO:RGD.
DR   GO; GO:0036038; C:MKS complex; ISS:UniProtKB.
DR   GO; GO:0048754; P:branching morphogenesis of an epithelial tube; ISO:RGD.
DR   GO; GO:0060411; P:cardiac septum morphogenesis; ISO:RGD.
DR   GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR   GO; GO:0061009; P:common bile duct development; ISO:RGD.
DR   GO; GO:0007368; P:determination of left/right symmetry; ISO:RGD.
DR   GO; GO:1990403; P:embryonic brain development; ISO:RGD.
DR   GO; GO:0042733; P:embryonic digit morphogenesis; ISO:RGD.
DR   GO; GO:0048706; P:embryonic skeletal system development; ISO:RGD.
DR   GO; GO:0010669; P:epithelial structure maintenance; ISO:RGD.
DR   GO; GO:0060322; P:head development; ISO:RGD.
DR   GO; GO:0060122; P:inner ear receptor cell stereocilium organization; ISO:RGD.
DR   GO; GO:0044458; P:motile cilium assembly; ISO:RGD.
DR   GO; GO:0001843; P:neural tube closure; ISO:RGD.
DR   GO; GO:1905515; P:non-motile cilium assembly; ISO:RGD.
DR   GO; GO:0060828; P:regulation of canonical Wnt signaling pathway; ISO:RGD.
DR   GO; GO:0008589; P:regulation of smoothened signaling pathway; ISO:RGD.
DR   GO; GO:1901620; P:regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; ISO:RGD.
DR   GO; GO:2000095; P:regulation of Wnt signaling pathway, planar cell polarity pathway; ISO:RGD.
DR   GO; GO:0003271; P:smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation; ISO:RGD.
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   2: Evidence at transcript level;
KW   Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW   Cytoskeleton; Reference proteome.
FT   CHAIN           1..561
FT                   /note="Tectonic-like complex member MKS1"
FT                   /id="PRO_0000225688"
FT   DOMAIN          314..442
FT                   /note="C2 B9-type"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00713"
SQ   SEQUENCE   561 AA;  64523 MW;  DCD1723749230E12 CRC64;
     MAEAVWSTDT GEAVYRSRDP VRNLRLRVHL QRITSSNFLH YQPAAQMGKD LIDLATFKPP
     QAASGHRPDE EEEEEVIIGW QEKLFSQFEV DLYQNESACQ SPLDHQYRQE VLKLENSGGR
     KNRRIFTYTD SDRYTDLEEY CQKITTSAGE APSFLVERMA NVRRRRQDRR GVEGSKLKSR
     IITWEPSEDF IRNSHAINTP LQTMYIMADL GPYGKLGYKI HEHVLCVLKV DSNGVITVKP
     DFTGIKGPYR IETEGEKQEH TSAWKYTIDN VSSLAQPEEE EREQRVFKDL YGRHKEYLSS
     LVGTDFEMIA PGALRLFVNG EVVSARGYEH DNLYVHFFVE LPATNWSSPS FQQLSGVTQT
     CVTRSLGMDK VAYFSFPFTF EAFFLHEDES DESLPEWPVL YCKVLSLDFW QRYRVEGYGA
     VVLPVTPGSH TLTASTWRPM ELGLVAELRR FFIGGSLELE DPSYVRIPGT FKGERLSRFG
     FRTETTGTVT FRLHCLQQSR AFMESNSLRK QMRSVLDRLE GFSQQSSTHN VLEAFRRARR
     RMQEARESLP QDLVSPTGTL A