F149B_MOUSE
ID F149B_MOUSE Reviewed; 578 AA.
AC Q6NSV7; A0JLS8; Q6PES0; Q6ZQ13; Q8CCW6; Q8R3J2;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Primary cilium assembly protein FAM149B1 {ECO:0000305};
GN Name=Fam149b1 {ECO:0000312|MGI:MGI:2145567}; Synonyms=Fam149b, Kiaa0974;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
RC STRAIN=C57BL/6J; TISSUE=Medulla oblongata;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 251-572 (ISOFORM 3).
RC STRAIN=C57BL/6J, FVB/N, and FVB/N-3;
RC TISSUE=Brain, Kidney, Liver, and Mammary tumor;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-578 (ISOFORM 4).
RX PubMed=14621295; DOI=10.1093/dnares/10.4.167;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: III.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 10:167-180(2003).
RN [4]
RP DEVELOPMENTAL STAGE.
RX PubMed=30905400; DOI=10.1016/j.ajhg.2019.02.018;
RA Shaheen R., Jiang N., Alzahrani F., Ewida N., Al-Sheddi T., Alobeid E.,
RA Musaev D., Stanley V., Hashem M., Ibrahim N., Abdulwahab F., Alshenqiti A.,
RA Sonmez F.M., Saqati N., Alzaidan H., Al-Qattan M.M., Al-Mohanna F.,
RA Gleeson J.G., Alkuraya F.S.;
RT "Bi-allelic mutations in FAM149B1 cause abnormal primary cilium and a range
RT of ciliopathy phenotypes in humans.";
RL Am. J. Hum. Genet. 104:731-737(2019).
CC -!- FUNCTION: Involved in the localization of proteins to the cilium and
CC cilium assembly. Indirectly regulates the signaling functions of the
CC cilium, being required for normal SHH/smoothened signaling and proper
CC development. {ECO:0000250|UniProtKB:Q96BN6}.
CC -!- SUBUNIT: Interacts with TBC1D32; may play a role in cilium assembly.
CC {ECO:0000250|UniProtKB:Q96BN6}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q96BN6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q6NSV7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6NSV7-2; Sequence=VSP_031535;
CC Name=3;
CC IsoId=Q6NSV7-3; Sequence=VSP_031542;
CC Name=4;
CC IsoId=Q6NSV7-4; Sequence=VSP_031536, VSP_031541;
CC Name=5;
CC IsoId=Q6NSV7-5; Sequence=VSP_031538, VSP_031539;
CC Name=6;
CC IsoId=Q6NSV7-6; Sequence=VSP_031536, VSP_031537, VSP_031540;
CC -!- DEVELOPMENTAL STAGE: Strong expression in the early embryonic stages 8
CC dpc, 9 dpc and 10 dpc in the neuroepithelium and by the maxillary
CC arches. {ECO:0000269|PubMed:30905400}.
CC -!- SIMILARITY: Belongs to the FAM149 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC98062.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK031973; BAC27633.1; -; mRNA.
DR EMBL; BC008267; AAH08267.1; -; mRNA.
DR EMBL; BC025183; AAH25183.1; -; mRNA.
DR EMBL; BC057907; AAH57907.1; -; mRNA.
DR EMBL; BC069846; AAH69846.1; -; mRNA.
DR EMBL; BC080849; AAH80849.1; -; mRNA.
DR EMBL; AK129252; BAC98062.1; ALT_INIT; mRNA.
DR CCDS; CCDS49408.1; -. [Q6NSV7-5]
DR CCDS; CCDS49409.1; -. [Q6NSV7-1]
DR CCDS; CCDS49410.1; -. [Q6NSV7-2]
DR RefSeq; NP_001019683.1; NM_001024512.2. [Q6NSV7-1]
DR RefSeq; NP_001171104.1; NM_001177633.1. [Q6NSV7-5]
DR RefSeq; NP_759011.2; NM_172379.3. [Q6NSV7-2]
DR AlphaFoldDB; Q6NSV7; -.
DR STRING; 10090.ENSMUSP00000087985; -.
DR iPTMnet; Q6NSV7; -.
DR PhosphoSitePlus; Q6NSV7; -.
DR PaxDb; Q6NSV7; -.
DR PRIDE; Q6NSV7; -.
DR ProteomicsDB; 275964; -. [Q6NSV7-1]
DR ProteomicsDB; 275965; -. [Q6NSV7-2]
DR ProteomicsDB; 275966; -. [Q6NSV7-3]
DR ProteomicsDB; 275967; -. [Q6NSV7-4]
DR ProteomicsDB; 275968; -. [Q6NSV7-5]
DR ProteomicsDB; 275969; -. [Q6NSV7-6]
DR Antibodypedia; 49231; 76 antibodies from 12 providers.
DR DNASU; 105428; -.
DR Ensembl; ENSMUST00000051915; ENSMUSP00000056907; ENSMUSG00000039599. [Q6NSV7-4]
DR Ensembl; ENSMUST00000090499; ENSMUSP00000087985; ENSMUSG00000039599. [Q6NSV7-1]
DR Ensembl; ENSMUST00000090503; ENSMUSP00000087989; ENSMUSG00000039599. [Q6NSV7-2]
DR Ensembl; ENSMUST00000224721; ENSMUSP00000153509; ENSMUSG00000039599. [Q6NSV7-5]
DR Ensembl; ENSMUST00000224930; ENSMUSP00000153235; ENSMUSG00000039599. [Q6NSV7-6]
DR Ensembl; ENSMUST00000225942; ENSMUSP00000153645; ENSMUSG00000039599. [Q6NSV7-3]
DR GeneID; 105428; -.
DR KEGG; mmu:105428; -.
DR UCSC; uc007sjh.1; mouse. [Q6NSV7-6]
DR UCSC; uc007sji.2; mouse. [Q6NSV7-5]
DR UCSC; uc007sjj.1; mouse. [Q6NSV7-1]
DR UCSC; uc007sjk.1; mouse. [Q6NSV7-2]
DR UCSC; uc007sjl.1; mouse. [Q6NSV7-4]
DR UCSC; uc011zgp.1; mouse. [Q6NSV7-3]
DR CTD; 105428; -.
DR MGI; MGI:2145567; Fam149b.
DR VEuPathDB; HostDB:ENSMUSG00000039599; -.
DR eggNOG; ENOG502QVD4; Eukaryota.
DR GeneTree; ENSGT00530000063727; -.
DR HOGENOM; CLU_075706_0_0_1; -.
DR InParanoid; Q6NSV7; -.
DR OMA; CSMEREE; -.
DR OrthoDB; 538466at2759; -.
DR PhylomeDB; Q6NSV7; -.
DR TreeFam; TF330725; -.
DR BioGRID-ORCS; 105428; 1 hit in 71 CRISPR screens.
DR ChiTaRS; Fam149b; mouse.
DR PRO; PR:Q6NSV7; -.
DR Proteomes; UP000000589; Chromosome 14.
DR RNAct; Q6NSV7; protein.
DR Bgee; ENSMUSG00000039599; Expressed in embryonic brain and 244 other tissues.
DR ExpressionAtlas; Q6NSV7; baseline and differential.
DR Genevisible; Q6NSV7; MM.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0061512; P:protein localization to cilium; ISS:UniProtKB.
DR InterPro; IPR022194; DUF3719.
DR InterPro; IPR039630; FAM149.
DR PANTHER; PTHR31997; PTHR31997; 1.
DR Pfam; PF12516; DUF3719; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Reference proteome.
FT CHAIN 1..578
FT /note="Primary cilium assembly protein FAM149B1"
FT /id="PRO_0000319934"
FT REGION 22..81
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 410..439
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 486..578
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 53..81
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 410..437
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 521..543
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 557..578
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 145..237
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031535"
FT VAR_SEQ 183..236
FT /note="Missing (in isoform 4 and isoform 6)"
FT /evidence="ECO:0000303|PubMed:14621295,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_031536"
FT VAR_SEQ 300..359
FT /note="DDESNVEITRLDSGSPYVLNEQHPLVLPRVPQSKVPSITSSPMSFCQASGHQ
FT PNVSGLLI -> GKDPHDTSVKITIDDLQTPVSHLYVCAAAQTQHPVCTRQTLPPSYNT
FT TPLLLFNFETRFL (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031537"
FT VAR_SEQ 300..338
FT /note="DDESNVEITRLDSGSPYVLNEQHPLVLPRVPQSKVPSIT -> EKRPNENTA
FT SRWPSASQKEAIREPSPDGSLILDPRTVRK (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_031538"
FT VAR_SEQ 339..578
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_031539"
FT VAR_SEQ 360..578
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_031540"
FT VAR_SEQ 377..451
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14621295"
FT /id="VSP_031541"
FT VAR_SEQ 533..578
FT /note="PDTQYRSSCASEYPHQARPGRGSAGPQSHGSTKPQSRGGPISRTRQ -> TH
FT STEVHVHLSILIRPDLAGALQVLSHMGLQNLRAEVDPSLEPGNDHRASENLQGCSRLGS
FT TWRLFMPQHSGTG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031542"
SQ SEQUENCE 578 AA; 63213 MW; F10DE04C6292A5F2 CRC64;
MISRYTRKAV PQSVELKGLT KHALNHHPLP ERLDDISSTN NSHGKDTSSH SESDITQESP
ITSTDTGNSN SRSAFPSYAG TGVSTEGSSD FSWGYGELDQ NATEKVQAMF TAIDELLYEQ
QLSAHTQGLQ KECQQWAASF PHLRILGRQI ITPSEGYGLY PRSPSAVSAS HEATLSQERE
STIFGIRGKK LHFSSSYKPS PTIKASGLCA VGGEEADCII FSEGVIEEYL AFDHTDMEEG
FHGNKSEAAT EKQKLGYPPI APFHCMKEDV LAHVFDNVWS KAVGCMEQLT RSHWEGCASD
DESNVEITRL DSGSPYVLNE QHPLVLPRVP QSKVPSITSS PMSFCQASGH QPNVSGLLIH
GMPLQPRNLS LMDKLLDLDD KLLTRPGSSS VLSNRNWPNR AMELSTSSLS YTTQSARRRN
PPPRTLHPIS TSHSRAGTPW PVEEILRGPR VPVTADTLSS PSPMTLGRNN LLPPIGTVEV
EHLSAMGPQR PTKSHGDSSR ARSAVVDEPN QQPQERLLLP VFSRPNTTQS FLPDTQYRSS
CASEYPHQAR PGRGSAGPQS HGSTKPQSRG GPISRTRQ
