F161A_HUMAN
ID F161A_HUMAN Reviewed; 660 AA.
AC Q3B820; B4DJV7; Q9H8R2;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Protein FAM161A;
GN Name=FAM161A;
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 1 AND 3), AND VARIANT
RP MET-107.
RC TISSUE=Colon endothelium, and Retina;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-545 (ISOFORM 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 123-660 (ISOFORMS 1/2).
RC TISSUE=Ovary, and Thalamus;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 43-660 (ISOFORM 1).
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY.
RC TISSUE=Lymphoblast;
RX PubMed=14654843; DOI=10.1038/nature02166;
RA Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT "Proteomic characterization of the human centrosome by protein correlation
RT profiling.";
RL Nature 426:570-574(2003).
RN [6]
RP INVOLVEMENT IN RP28, AND TISSUE SPECIFICITY.
RX PubMed=20705278; DOI=10.1016/j.ajhg.2010.07.018;
RA Langmann T., Di Gioia S.A., Rau I., Stohr H., Maksimovic N.S., Corbo J.C.,
RA Renner A.B., Zrenner E., Kumaramanickavel G., Karlstetter M.,
RA Arsenijevic Y., Weber B.H., Gal A., Rivolta C.;
RT "Nonsense mutations in FAM161A cause RP28-associated recessive retinitis
RT pigmentosa.";
RL Am. J. Hum. Genet. 87:376-381(2010).
RN [7]
RP INVOLVEMENT IN RP28, AND TISSUE SPECIFICITY.
RX PubMed=20705279; DOI=10.1016/j.ajhg.2010.07.022;
RA Bandah-Rozenfeld D., Mizrahi-Meissonnier L., Farhy C., Obolensky A.,
RA Chowers I., Pe'er J., Merin S., Ben-Yosef T., Ashery-Padan R., Banin E.,
RA Sharon D.;
RT "Homozygosity mapping reveals null mutations in FAM161A as a cause of
RT autosomal-recessive retinitis pigmentosa.";
RL Am. J. Hum. Genet. 87:382-391(2010).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH LCA5; CEP290 AND
RP SDCCAG8.
RX PubMed=22940612; DOI=10.1093/hmg/dds368;
RA Di Gioia S.A., Letteboer S.J., Kostic C., Bandah-Rozenfeld D.,
RA Hetterschijt L., Sharon D., Arsenijevic Y., Roepman R., Rivolta C.;
RT "FAM161A, associated with retinitis pigmentosa, is a component of the
RT cilia-basal body complex and interacts with proteins involved in
RT ciliopathies.";
RL Hum. Mol. Genet. 21:5174-5184(2012).
RN [9]
RP INTERACTION WITH MICROTUBULES AND FAM161B.
RX PubMed=22791751; DOI=10.1093/hmg/dds268;
RA Zach F., Grassmann F., Langmann T., Sorusch N., Wolfrum U., Stohr H.;
RT "The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein
RT involved in intermolecular protein interaction and microtubule
RT association.";
RL Hum. Mol. Genet. 21:4573-4586(2012).
RN [10]
RP INTERACTION WITH POC1B.
RX PubMed=25018096; DOI=10.1016/j.ajhg.2014.06.012;
RA Roosing S., Lamers I.J., de Vrieze E., van den Born L.I., Lambertus S.,
RA Arts H.H., Peters T.A., Hoyng C.B., Kremer H., Hetterschijt L.,
RA Letteboer S.J., van Wijk E., Roepman R., den Hollander A.I., Cremers F.P.,
RA Boldt K., de Baere E., Klaver C.C., Coppieters F., Koolen D.A.,
RA Lugtenberg D., Neveling K., van Reeuwijk J., Ueffing M., van Beersum S.E.,
RA Zonneveld-Vrieling M.N.;
RT "Disruption of the basal body protein POC1B results in autosomal-recessive
RT cone-rod dystrophy.";
RL Am. J. Hum. Genet. 95:131-142(2014).
RN [11]
RP INTERACTION WITH CEP78.
RX PubMed=27588451; DOI=10.1016/j.ajhg.2016.07.009;
RA Nikopoulos K., Farinelli P., Giangreco B., Tsika C., Royer-Bertrand B.,
RA Mbefo M.K., Bedoni N., Kjellstroem U., El Zaoui I., Di Gioia S.A.,
RA Balzano S., Cisarova K., Messina A., Decembrini S., Plainis S.,
RA Blazaki S.V., Khan M.I., Micheal S., Boldt K., Ueffing M., Moulin A.P.,
RA Cremers F.P., Roepman R., Arsenijevic Y., Tsilimbaris M.K., Andreasson S.,
RA Rivolta C.;
RT "Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated
RT with primary-cilia defects.";
RL Am. J. Hum. Genet. 99:770-776(2016).
RN [12]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-468 AND LYS-484, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
RN [13]
RP VARIANT RP28 315-LYS--HIS-660 DEL.
RX PubMed=31236346; DOI=10.18240/ijo.2019.06.06;
RA Hu Y.S., Song H., Li Y., Xiao Z.Y., Li T.;
RT "Whole-exome sequencing identifies novel mutations in genes responsible for
RT retinitis pigmentosa in 2 nonconsanguineous Chinese families.";
RL Int. J. Ophthalmol. 12:915-923(2019).
CC -!- FUNCTION: Involved in ciliogenesis. {ECO:0000269|PubMed:22940612}.
CC -!- SUBUNIT: Interacts (via C-terminus) with microtubules. Interacts with
CC LCA5, CEP290 and SDCCAG8. Interacts with FAM161B. Interacts with POC1B.
CC Interacts with CEP78 (PubMed:27588451). {ECO:0000269|PubMed:22791751,
CC ECO:0000269|PubMed:22940612, ECO:0000269|PubMed:25018096,
CC ECO:0000269|PubMed:27588451}.
CC -!- INTERACTION:
CC Q3B820; P29972: AQP1; NbExp=3; IntAct=EBI-719941, EBI-745213;
CC Q3B820; Q9Y2T1: AXIN2; NbExp=3; IntAct=EBI-719941, EBI-4400025;
CC Q3B820; Q9BYV9: BACH2; NbExp=3; IntAct=EBI-719941, EBI-1642333;
CC Q3B820; Q9BUH8: BEGAIN; NbExp=3; IntAct=EBI-719941, EBI-742722;
CC Q3B820; Q5T5X7: BEND3; NbExp=3; IntAct=EBI-719941, EBI-1211496;
CC Q3B820; Q7L4P6: BEND5; NbExp=3; IntAct=EBI-719941, EBI-724373;
CC Q3B820; Q6PI77: BHLHB9; NbExp=3; IntAct=EBI-719941, EBI-11519926;
CC Q3B820; Q8TD16-2: BICD2; NbExp=3; IntAct=EBI-719941, EBI-11975051;
CC Q3B820; A2RRN7: CADPS; NbExp=6; IntAct=EBI-719941, EBI-10179719;
CC Q3B820; Q9P1Z2: CALCOCO1; NbExp=3; IntAct=EBI-719941, EBI-749920;
CC Q3B820; Q13137: CALCOCO2; NbExp=6; IntAct=EBI-719941, EBI-739580;
CC Q3B820; Q9H257: CARD9; NbExp=4; IntAct=EBI-719941, EBI-751319;
CC Q3B820; Q9H257-2: CARD9; NbExp=6; IntAct=EBI-719941, EBI-11530605;
CC Q3B820; Q8NA61: CBY2; NbExp=3; IntAct=EBI-719941, EBI-741724;
CC Q3B820; Q8NA61-2: CBY2; NbExp=5; IntAct=EBI-719941, EBI-11524851;
CC Q3B820; Q68D86: CCDC102B; NbExp=6; IntAct=EBI-719941, EBI-10171570;
CC Q3B820; Q86Z20: CCDC125; NbExp=3; IntAct=EBI-719941, EBI-11977221;
CC Q3B820; Q8IYE1: CCDC13; NbExp=3; IntAct=EBI-719941, EBI-10961312;
CC Q3B820; Q96JN2-2: CCDC136; NbExp=3; IntAct=EBI-719941, EBI-10171416;
CC Q3B820; Q8N715: CCDC185; NbExp=3; IntAct=EBI-719941, EBI-740814;
CC Q3B820; Q2TAC2: CCDC57; NbExp=3; IntAct=EBI-719941, EBI-2808286;
CC Q3B820; Q2TAC2-2: CCDC57; NbExp=6; IntAct=EBI-719941, EBI-10961624;
CC Q3B820; A6NC98: CCDC88B; NbExp=3; IntAct=EBI-719941, EBI-347573;
CC Q3B820; P24863: CCNC; NbExp=3; IntAct=EBI-719941, EBI-395261;
CC Q3B820; O95273: CCNDBP1; NbExp=5; IntAct=EBI-719941, EBI-748961;
CC Q3B820; Q01850: CDR2; NbExp=6; IntAct=EBI-719941, EBI-1181367;
CC Q3B820; Q86X02: CDR2L; NbExp=3; IntAct=EBI-719941, EBI-11063830;
CC Q3B820; Q9C0F1: CEP44; NbExp=3; IntAct=EBI-719941, EBI-744115;
CC Q3B820; Q8IYX8-2: CEP57L1; NbExp=3; IntAct=EBI-719941, EBI-10181988;
CC Q3B820; Q96MT8: CEP63; NbExp=3; IntAct=EBI-719941, EBI-741977;
CC Q3B820; Q96MT8-3: CEP63; NbExp=3; IntAct=EBI-719941, EBI-11522539;
CC Q3B820; Q8NHQ1: CEP70; NbExp=6; IntAct=EBI-719941, EBI-739624;
CC Q3B820; Q9P209: CEP72; NbExp=3; IntAct=EBI-719941, EBI-739498;
CC Q3B820; Q9UI47-2: CTNNA3; NbExp=3; IntAct=EBI-719941, EBI-11962928;
CC Q3B820; Q7L7V1: DHX32; NbExp=9; IntAct=EBI-719941, EBI-2807297;
CC Q3B820; Q8NF50-2: DOCK8; NbExp=3; IntAct=EBI-719941, EBI-10174653;
CC Q3B820; A2ABF9: EHMT2; NbExp=3; IntAct=EBI-719941, EBI-10174566;
CC Q3B820; O60447: EVI5; NbExp=3; IntAct=EBI-719941, EBI-852291;
CC Q3B820; Q3B820: FAM161A; NbExp=4; IntAct=EBI-719941, EBI-719941;
CC Q3B820; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-719941, EBI-10175124;
CC Q3B820; A1L4K1: FSD2; NbExp=3; IntAct=EBI-719941, EBI-5661036;
CC Q3B820; P51114-2: FXR1; NbExp=3; IntAct=EBI-719941, EBI-11022345;
CC Q3B820; O95995: GAS8; NbExp=3; IntAct=EBI-719941, EBI-1052570;
CC Q3B820; Q08379: GOLGA2; NbExp=5; IntAct=EBI-719941, EBI-618309;
CC Q3B820; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-719941, EBI-5916454;
CC Q3B820; Q86WP2: GPBP1; NbExp=3; IntAct=EBI-719941, EBI-2349758;
CC Q3B820; Q4V328: GRIPAP1; NbExp=3; IntAct=EBI-719941, EBI-717919;
CC Q3B820; Q96MH2: HEXIM2; NbExp=3; IntAct=EBI-719941, EBI-5460660;
CC Q3B820; Q6NT76: HMBOX1; NbExp=6; IntAct=EBI-719941, EBI-2549423;
CC Q3B820; Q9UJC3: HOOK1; NbExp=5; IntAct=EBI-719941, EBI-746704;
CC Q3B820; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-719941, EBI-10961706;
CC Q3B820; Q13422: IKZF1; NbExp=3; IntAct=EBI-719941, EBI-745305;
CC Q3B820; Q8NBZ0: INO80E; NbExp=3; IntAct=EBI-719941, EBI-769401;
CC Q3B820; O75564-2: JRK; NbExp=3; IntAct=EBI-719941, EBI-17181882;
CC Q3B820; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-719941, EBI-2556193;
CC Q3B820; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-719941, EBI-749265;
CC Q3B820; Q92993: KAT5; NbExp=3; IntAct=EBI-719941, EBI-399080;
CC Q3B820; O60341: KDM1A; NbExp=3; IntAct=EBI-719941, EBI-710124;
CC Q3B820; Q2KHM9: KIAA0753; NbExp=3; IntAct=EBI-719941, EBI-2805604;
CC Q3B820; Q86T90: KIAA1328; NbExp=3; IntAct=EBI-719941, EBI-3437878;
CC Q3B820; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-719941, EBI-14069005;
CC Q3B820; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-719941, EBI-10172290;
CC Q3B820; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-719941, EBI-10171774;
CC Q3B820; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-719941, EBI-10172052;
CC Q3B820; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-719941, EBI-14065470;
CC Q3B820; Q6L8G8: KRTAP5-7; NbExp=3; IntAct=EBI-719941, EBI-11987425;
CC Q3B820; P26371: KRTAP5-9; NbExp=6; IntAct=EBI-719941, EBI-3958099;
CC Q3B820; O95751: LDOC1; NbExp=3; IntAct=EBI-719941, EBI-740738;
CC Q3B820; P02545: LMNA; NbExp=3; IntAct=EBI-719941, EBI-351935;
CC Q3B820; Q8IV03: LURAP1L; NbExp=3; IntAct=EBI-719941, EBI-12898559;
CC Q3B820; Q9Y250: LZTS1; NbExp=5; IntAct=EBI-719941, EBI-1216080;
CC Q3B820; Q9BRK4: LZTS2; NbExp=6; IntAct=EBI-719941, EBI-741037;
CC Q3B820; P43364: MAGEA11; NbExp=3; IntAct=EBI-719941, EBI-739552;
CC Q3B820; P23508: MCC; NbExp=3; IntAct=EBI-719941, EBI-307531;
CC Q3B820; Q14566: MCM6; NbExp=3; IntAct=EBI-719941, EBI-374900;
CC Q3B820; Q99750: MDFI; NbExp=6; IntAct=EBI-719941, EBI-724076;
CC Q3B820; Q9UJV3-2: MID2; NbExp=6; IntAct=EBI-719941, EBI-10172526;
CC Q3B820; Q8TD10: MIPOL1; NbExp=6; IntAct=EBI-719941, EBI-2548751;
CC Q3B820; Q9UHC7: MKRN1; NbExp=3; IntAct=EBI-719941, EBI-373524;
CC Q3B820; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-719941, EBI-742948;
CC Q3B820; Q5JR59-3: MTUS2; NbExp=5; IntAct=EBI-719941, EBI-11522433;
CC Q3B820; Q7Z6G3-2: NECAB2; NbExp=3; IntAct=EBI-719941, EBI-10172876;
CC Q3B820; Q9Y2I6: NINL; NbExp=3; IntAct=EBI-719941, EBI-719716;
CC Q3B820; Q86Y26: NUTM1; NbExp=3; IntAct=EBI-719941, EBI-10178410;
CC Q3B820; Q9H4L5: OSBPL3; NbExp=3; IntAct=EBI-719941, EBI-1051317;
CC Q3B820; Q5VU43: PDE4DIP; NbExp=3; IntAct=EBI-719941, EBI-1105124;
CC Q3B820; Q8TBR0: PDE4DIP; NbExp=3; IntAct=EBI-719941, EBI-10240575;
CC Q3B820; Q8IXK0: PHC2; NbExp=3; IntAct=EBI-719941, EBI-713786;
CC Q3B820; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-719941, EBI-14066006;
CC Q3B820; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-719941, EBI-79165;
CC Q3B820; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-719941, EBI-949255;
CC Q3B820; Q8ND90: PNMA1; NbExp=3; IntAct=EBI-719941, EBI-302345;
CC Q3B820; Q9UL42: PNMA2; NbExp=3; IntAct=EBI-719941, EBI-302355;
CC Q3B820; Q8NA72: POC5; NbExp=6; IntAct=EBI-719941, EBI-2561090;
CC Q3B820; Q8NA72-3: POC5; NbExp=3; IntAct=EBI-719941, EBI-11751537;
CC Q3B820; Q13136: PPFIA1; NbExp=5; IntAct=EBI-719941, EBI-745426;
CC Q3B820; Q969Q6: PPP2R3C; NbExp=3; IntAct=EBI-719941, EBI-2561661;
CC Q3B820; P31321: PRKAR1B; NbExp=3; IntAct=EBI-719941, EBI-2805516;
CC Q3B820; P47897: QARS1; NbExp=3; IntAct=EBI-719941, EBI-347462;
CC Q3B820; Q6NUQ1: RINT1; NbExp=3; IntAct=EBI-719941, EBI-726876;
CC Q3B820; Q9HAT0: ROPN1; NbExp=3; IntAct=EBI-719941, EBI-1378139;
CC Q3B820; Q92622: RUBCN; NbExp=3; IntAct=EBI-719941, EBI-2952709;
CC Q3B820; Q59EK9: RUNDC3A; NbExp=3; IntAct=EBI-719941, EBI-747225;
CC Q3B820; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-719941, EBI-748391;
CC Q3B820; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-719941, EBI-358489;
CC Q3B820; O94964-4: SOGA1; NbExp=3; IntAct=EBI-719941, EBI-14083835;
CC Q3B820; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-719941, EBI-5235340;
CC Q3B820; Q9Y2D8: SSX2IP; NbExp=3; IntAct=EBI-719941, EBI-2212028;
CC Q3B820; O75558: STX11; NbExp=3; IntAct=EBI-719941, EBI-714135;
CC Q3B820; Q8N0S2: SYCE1; NbExp=3; IntAct=EBI-719941, EBI-6872807;
CC Q3B820; Q86VP1: TAX1BP1; NbExp=3; IntAct=EBI-719941, EBI-529518;
CC Q3B820; Q86TI0: TBC1D1; NbExp=3; IntAct=EBI-719941, EBI-1644036;
CC Q3B820; Q9UBB9: TFIP11; NbExp=9; IntAct=EBI-719941, EBI-1105213;
CC Q3B820; Q15025: TNIP1; NbExp=6; IntAct=EBI-719941, EBI-357849;
CC Q3B820; Q96KP6: TNIP3; NbExp=3; IntAct=EBI-719941, EBI-2509913;
CC Q3B820; Q13077: TRAF1; NbExp=5; IntAct=EBI-719941, EBI-359224;
CC Q3B820; Q12933: TRAF2; NbExp=3; IntAct=EBI-719941, EBI-355744;
CC Q3B820; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-719941, EBI-492476;
CC Q3B820; Q9C019: TRIM15; NbExp=3; IntAct=EBI-719941, EBI-2342111;
CC Q3B820; P14373: TRIM27; NbExp=3; IntAct=EBI-719941, EBI-719493;
CC Q3B820; O94972: TRIM37; NbExp=3; IntAct=EBI-719941, EBI-741602;
CC Q3B820; Q8WV44: TRIM41; NbExp=3; IntAct=EBI-719941, EBI-725997;
CC Q3B820; Q9BYV2: TRIM54; NbExp=6; IntAct=EBI-719941, EBI-2130429;
CC Q3B820; Q86WT6-2: TRIM69; NbExp=3; IntAct=EBI-719941, EBI-11525489;
CC Q3B820; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-719941, EBI-6116822;
CC Q3B820; P08670: VIM; NbExp=3; IntAct=EBI-719941, EBI-353844;
CC Q3B820; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-719941, EBI-2799833;
CC Q3B820; Q9Y2K1: ZBTB1; NbExp=6; IntAct=EBI-719941, EBI-2682961;
CC Q3B820; O43829: ZBTB14; NbExp=3; IntAct=EBI-719941, EBI-10176632;
CC Q3B820; O43298: ZBTB43; NbExp=3; IntAct=EBI-719941, EBI-740718;
CC Q3B820; Q96BR9: ZBTB8A; NbExp=6; IntAct=EBI-719941, EBI-742740;
CC Q3B820; Q9NZV7: ZIM2; NbExp=3; IntAct=EBI-719941, EBI-11962760;
CC Q3B820; P17028: ZNF24; NbExp=3; IntAct=EBI-719941, EBI-707773;
CC Q3B820; P15622-3: ZNF250; NbExp=3; IntAct=EBI-719941, EBI-10177272;
CC Q3B820; Q8N554: ZNF276; NbExp=3; IntAct=EBI-719941, EBI-750821;
CC Q3B820; Q9BUY5: ZNF426; NbExp=3; IntAct=EBI-719941, EBI-743265;
CC Q3B820; Q8TF50: ZNF526; NbExp=3; IntAct=EBI-719941, EBI-11035148;
CC Q3B820; Q3KQV3: ZNF792; NbExp=3; IntAct=EBI-719941, EBI-10240849;
CC Q3B820; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-719941, EBI-527853;
CC Q3B820; O43309: ZSCAN12; NbExp=3; IntAct=EBI-719941, EBI-1210440;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body
CC {ECO:0000269|PubMed:22940612}. Cell projection, cilium
CC {ECO:0000269|PubMed:22940612}. Note=Localized to the region between the
CC outer and inner photoreceptor segments, corresponding to the
CC photoreceptor connecting cilium.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q3B820-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3B820-2; Sequence=VSP_032935;
CC Name=3;
CC IsoId=Q3B820-3; Sequence=VSP_039126;
CC -!- TISSUE SPECIFICITY: Isoform 1 and isoform 3 are widely expressed with
CC highest levels in retina and testis, with isoform 1 being the most
CC abundant in all tissues tested. {ECO:0000269|PubMed:20705278,
CC ECO:0000269|PubMed:20705279}.
CC -!- DISEASE: Retinitis pigmentosa 28 (RP28) [MIM:606068]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:20705278,
CC ECO:0000269|PubMed:20705279, ECO:0000269|PubMed:31236346}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the FAM161 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG58969.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; BX648834; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX649029; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC107081; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK023367; BAB14544.1; -; mRNA.
DR EMBL; AK296255; BAG58969.1; ALT_INIT; mRNA.
DR EMBL; BC107162; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC107163; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS42687.2; -. [Q3B820-1]
DR CCDS; CCDS56120.1; -. [Q3B820-3]
DR RefSeq; NP_001188472.1; NM_001201543.1. [Q3B820-3]
DR RefSeq; NP_115556.2; NM_032180.2. [Q3B820-1]
DR RefSeq; XP_016860561.1; XM_017005072.1. [Q3B820-2]
DR AlphaFoldDB; Q3B820; -.
DR SMR; Q3B820; -.
DR BioGRID; 123909; 156.
DR IntAct; Q3B820; 148.
DR MINT; Q3B820; -.
DR STRING; 9606.ENSP00000385158; -.
DR iPTMnet; Q3B820; -.
DR PhosphoSitePlus; Q3B820; -.
DR BioMuta; FAM161A; -.
DR DMDM; 182705173; -.
DR EPD; Q3B820; -.
DR jPOST; Q3B820; -.
DR MassIVE; Q3B820; -.
DR MaxQB; Q3B820; -.
DR PeptideAtlas; Q3B820; -.
DR PRIDE; Q3B820; -.
DR ProteomicsDB; 61665; -. [Q3B820-1]
DR ProteomicsDB; 61666; -. [Q3B820-2]
DR ProteomicsDB; 61667; -. [Q3B820-3]
DR Antibodypedia; 30688; 80 antibodies from 11 providers.
DR DNASU; 84140; -.
DR Ensembl; ENST00000404929.6; ENSP00000385158.1; ENSG00000170264.13. [Q3B820-3]
DR Ensembl; ENST00000405894.3; ENSP00000385893.3; ENSG00000170264.13. [Q3B820-1]
DR GeneID; 84140; -.
DR KEGG; hsa:84140; -.
DR MANE-Select; ENST00000404929.6; ENSP00000385158.1; NM_001201543.2; NP_001188472.1. [Q3B820-3]
DR UCSC; uc002sbm.5; human. [Q3B820-1]
DR CTD; 84140; -.
DR DisGeNET; 84140; -.
DR GeneCards; FAM161A; -.
DR GeneReviews; FAM161A; -.
DR HGNC; HGNC:25808; FAM161A.
DR HPA; ENSG00000170264; Tissue enriched (retina).
DR MalaCards; FAM161A; -.
DR MIM; 606068; phenotype.
DR MIM; 613596; gene.
DR neXtProt; NX_Q3B820; -.
DR OpenTargets; ENSG00000170264; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA162386876; -.
DR VEuPathDB; HostDB:ENSG00000170264; -.
DR eggNOG; ENOG502QRC3; Eukaryota.
DR GeneTree; ENSGT00940000157824; -.
DR HOGENOM; CLU_010955_0_1_1; -.
DR InParanoid; Q3B820; -.
DR OMA; MWDDFSV; -.
DR OrthoDB; 1085171at2759; -.
DR PhylomeDB; Q3B820; -.
DR TreeFam; TF321199; -.
DR PathwayCommons; Q3B820; -.
DR SignaLink; Q3B820; -.
DR BioGRID-ORCS; 84140; 14 hits in 1073 CRISPR screens.
DR ChiTaRS; FAM161A; human.
DR GenomeRNAi; 84140; -.
DR Pharos; Q3B820; Tbio.
DR PRO; PR:Q3B820; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q3B820; protein.
DR Bgee; ENSG00000170264; Expressed in pigmented layer of retina and 144 other tissues.
DR ExpressionAtlas; Q3B820; baseline and differential.
DR Genevisible; Q3B820; HS.
DR GO; GO:0000235; C:astral microtubule; IDA:UniProtKB.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0072686; C:mitotic spindle; IDA:UniProtKB.
DR GO; GO:0097431; C:mitotic spindle pole; IDA:UniProtKB.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR GO; GO:0001917; C:photoreceptor inner segment; IDA:UniProtKB.
DR GO; GO:0005876; C:spindle microtubule; IDA:UniProtKB.
DR GO; GO:0042802; F:identical protein binding; IDA:UniProtKB.
DR GO; GO:0008017; F:microtubule binding; IMP:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0044782; P:cilium organization; IBA:GO_Central.
DR GO; GO:1901985; P:positive regulation of protein acetylation; IDA:UniProtKB.
DR GO; GO:0050896; P:response to stimulus; IEA:UniProtKB-KW.
DR GO; GO:0007601; P:visual perception; IEA:UniProtKB-KW.
DR InterPro; IPR019579; FAM161A/B.
DR Pfam; PF10595; UPF0564; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW Cilium biogenesis/degradation; Coiled coil; Cytoplasm; Cytoskeleton;
KW Disease variant; Isopeptide bond; Reference proteome; Retinitis pigmentosa;
KW Sensory transduction; Ubl conjugation; Vision.
FT CHAIN 1..660
FT /note="Protein FAM161A"
FT /id="PRO_0000329052"
FT REGION 605..660
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 93..120
FT /evidence="ECO:0000255"
FT COILED 296..320
FT /evidence="ECO:0000255"
FT COILED 522..552
FT /evidence="ECO:0000255"
FT COMPBIAS 605..629
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 637..660
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CROSSLNK 468
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 484
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VAR_SEQ 1..109
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032935"
FT VAR_SEQ 527
FT /note="V -> VRRSLEEKKMLEEERNRILTKQKQRMKELQKLLTTRAKAYDSHQSLA
FT QISKSRVKCL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_039126"
FT VARIANT 107
FT /note="I -> M (in dbSNP:rs11125895)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_060180"
FT VARIANT 236
FT /note="I -> V (in dbSNP:rs17513722)"
FT /id="VAR_042630"
FT VARIANT 273
FT /note="E -> K (in dbSNP:rs6733774)"
FT /id="VAR_042631"
FT VARIANT 315..660
FT /note="Missing (in RP28)"
FT /evidence="ECO:0000269|PubMed:31236346"
FT /id="VAR_083934"
FT CONFLICT 145
FT /note="E -> G (in Ref. 1; BX648834)"
FT /evidence="ECO:0000305"
FT CONFLICT 167
FT /note="S -> F (in Ref. 3; BAB14544)"
FT /evidence="ECO:0000305"
FT CONFLICT 534
FT /note="R -> M (in Ref. 3; BAG58969)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 660 AA; 76752 MW; E2C0D443C1A0DAA5 CRC64;
MATSHRVAKL VASSLQTPVN PITGARVAQY EREDPLKALA AAEAILEDEE EEKVAQPAGA
SADLNTSFSG VDEHAPISYE DFVNFPDIHH SNEEYFKKVE ELKAAHIETM AKLEKMYQDK
LHLKEVQPVV IREDSLSDSS RSVSEKNSYH PVSLMTSFSE PDLGQSSSLY VSSSEEELPN
LEKEYPRKNR MMTYAKELIN NMWTDFCVED YIRCKDTGFH AAEKRRKKRK EWVPTITVPE
PFQMMIREQK KKEESMKSKS DIEMVHKALK KQEEDPEYKK KFRANPVPAS VFLPLYHDLV
KQKEERRRSL KEKSKEALLA SQKPFKFIAR EEQKRAAREK QLRDFLKYKK KTNRFKARPI
PRSTYGSTTN DKLKEEELYR NLRTQLRAQE HLQNSSPLPC RSACGCRNPR CPEQAVKLKC
KHKVRCPTPD FEDLPERYQK HLSEHKSPKL LTVCKPFDLH ASPHASIKRE KILADIEADE
ENLKETRWPY LSPRRKSPVR CAGVNPVPCN CNPPVPTVSS RGREQAVRKS EKERMREYQR
ELEEREEKLK KRPLLFERVA QKNARMAAEK HYSNTLKALG ISDEFVSKKG QSGKVLEYFN
NQETKSVTED KESFNEEEKI EERENGEENY FIDTNSQDSY KEKDEANEES EEEKSVEESH
