RBL2A_MOUSE
ID RBL2A_MOUSE Reviewed; 223 AA.
AC E9Q9D5; Q3TDG7; Q8K2P9; Q9D133;
DT 11-DEC-2013, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 1.
DT 03-AUG-2022, entry version 77.
DE RecName: Full=Rab-like protein 2A;
GN Name=Rabl2; Synonyms=Rabl2a;
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] (ISOFORMS 1 AND 3).
RC STRAIN=C57BL/6J, and NOD;
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 GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=FVB/N-3; TISSUE=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 [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH IFT27; IFT81; IFT172;
RP ATP6V1E1; HK1; LDHC; MAPRE1 AND HSPA2, AND MUTAGENESIS OF ASP-73.
RX PubMed=23055941; DOI=10.1371/journal.pgen.1002969;
RA Lo J.C., Jamsai D., O'Connor A.E., Borg C., Clark B.J., Whisstock J.C.,
RA Field M.C., Adams V., Ishikawa T., Aitken R.J., Whittle B., Goodnow C.C.,
RA Ormandy C.J., O'Bryan M.K.;
RT "RAB-like 2 has an essential role in male fertility, sperm intra-flagellar
RT transport, and tail assembly.";
RL PLoS Genet. 8:E1002969-E1002969(2012).
RN [6]
RP DISRUPTION PHENOTYPE.
RX PubMed=28625565; DOI=10.1016/j.devcel.2017.05.016;
RA Kanie T., Abbott K.L., Mooney N.A., Plowey E.D., Demeter J., Jackson P.K.;
RT "The CEP19-RABL2 GTPase complex binds IFT-B to initiate intraflagellar
RT transport at the ciliary base.";
RL Dev. Cell 42:1-15(2017).
CC -!- FUNCTION: Plays an essential role in male fertility, sperm intra-
CC flagellar transport, and tail assembly. Binds, in a GTP-regulated
CC manner, to a specific set of effector proteins including key proteins
CC involved in cilia development and function and delivers them into the
CC growing sperm tail. {ECO:0000269|PubMed:23055941}.
CC -!- SUBUNIT: Interacts with IFT27, IFT81, IFT172, ATP6V1E1, HK1, LDHC,
CC MAPRE1 and HSPA2. {ECO:0000269|PubMed:23055941}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2;
CC IsoId=E9Q9D5-2; Sequence=Displayed;
CC Name=1;
CC IsoId=E9Q9D5-1; Sequence=VSP_053488, VSP_053489;
CC Name=3;
CC IsoId=E9Q9D5-3; Sequence=VSP_053487;
CC -!- TISSUE SPECIFICITY: Isoform 2 is expressed in the testis and localizes
CC to the mid-piece of the sperm tail (at protein level). Isoform 2 is
CC expressed at higher levels in testis than isoform 1. Isoform 1 and
CC isoform 2 are widely expressed and notably within other tissues
CC containing motile cilia including the lung, trachea, brain, ovary and
CC kidney. {ECO:0000269|PubMed:23055941}.
CC -!- DISRUPTION PHENOTYPE: Exhibits phenotypes characteristic of
CC ciliopathies. Pre-axial polydactyly. Retinal degeneration,
CC characterized by loss of the outer nuclear layer that contains the cell
CC body of photoreceptor cells. {ECO:0000269|PubMed:28625565}.
CC -!- SIMILARITY: Belongs to the small GTPase superfamily. Rab family.
CC {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK004012; BAB23123.1; -; mRNA.
DR EMBL; AK170205; BAE41635.1; -; mRNA.
DR EMBL; AC122401; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC030376; AAH30376.1; -; mRNA.
DR CCDS; CCDS49704.1; -. [E9Q9D5-2]
DR RefSeq; NP_081093.2; NM_026817.3. [E9Q9D5-2]
DR AlphaFoldDB; E9Q9D5; -.
DR SMR; E9Q9D5; -.
DR BioGRID; 213005; 1.
DR STRING; 10090.ENSMUSP00000023294; -.
DR PhosphoSitePlus; E9Q9D5; -.
DR EPD; E9Q9D5; -.
DR MaxQB; E9Q9D5; -.
DR PaxDb; E9Q9D5; -.
DR PRIDE; E9Q9D5; -.
DR ProteomicsDB; 300253; -. [E9Q9D5-2]
DR ProteomicsDB; 300254; -. [E9Q9D5-1]
DR ProteomicsDB; 300255; -. [E9Q9D5-3]
DR DNASU; 68708; -.
DR Ensembl; ENSMUST00000023294; ENSMUSP00000023294; ENSMUSG00000022621. [E9Q9D5-2]
DR Ensembl; ENSMUST00000094056; ENSMUSP00000091598; ENSMUSG00000022621. [E9Q9D5-3]
DR GeneID; 68708; -.
DR KEGG; mmu:68708; -.
DR UCSC; uc007xhf.1; mouse. [E9Q9D5-2]
DR UCSC; uc007xhg.1; mouse. [E9Q9D5-3]
DR CTD; 68708; -.
DR MGI; MGI:1915958; Rabl2.
DR VEuPathDB; HostDB:ENSMUSG00000022621; -.
DR eggNOG; KOG0087; Eukaryota.
DR GeneTree; ENSGT00940000156551; -.
DR HOGENOM; CLU_041217_13_1_1; -.
DR InParanoid; E9Q9D5; -.
DR OMA; DGYKPQQ; -.
DR OrthoDB; 1340129at2759; -.
DR PhylomeDB; E9Q9D5; -.
DR TreeFam; TF329398; -.
DR BioGRID-ORCS; 68708; 3 hits in 72 CRISPR screens.
DR PRO; PR:E9Q9D5; -.
DR Proteomes; UP000000589; Chromosome 15.
DR RNAct; E9Q9D5; protein.
DR Bgee; ENSMUSG00000022621; Expressed in manus and 221 other tissues.
DR ExpressionAtlas; E9Q9D5; baseline and differential.
DR Genevisible; E9Q9D5; MM.
DR GO; GO:0005814; C:centriole; ISO:MGI.
DR GO; GO:0036064; C:ciliary basal body; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; ISO:MGI.
DR GO; GO:0030992; C:intraciliary transport particle B; IDA:MGI.
DR GO; GO:0000242; C:pericentriolar material; ISO:MGI.
DR GO; GO:0097225; C:sperm midpiece; IDA:MGI.
DR GO; GO:0005525; F:GTP binding; IDA:MGI.
DR GO; GO:0003924; F:GTPase activity; IBA:GO_Central.
DR GO; GO:0060271; P:cilium assembly; IMP:MGI.
DR GO; GO:0030317; P:flagellated sperm motility; IMP:MGI.
DR GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR GO; GO:0008594; P:photoreceptor cell morphogenesis; IMP:UniProtKB.
DR GO; GO:0007338; P:single fertilization; IMP:MGI.
DR CDD; cd04124; RabL2; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR041835; RabL2.
DR InterPro; IPR005225; Small_GTP-bd_dom.
DR InterPro; IPR001806; Small_GTPase.
DR Pfam; PF00071; Ras; 1.
DR SMART; SM00174; RHO; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR TIGRFAMs; TIGR00231; small_GTP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Ciliopathy; GTP-binding; Nucleotide-binding;
KW Reference proteome.
FT CHAIN 1..223
FT /note="Rab-like protein 2A"
FT /id="PRO_0000424709"
FT REGION 200..223
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 28..35
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 76..80
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT BINDING 133..136
FT /ligand="GTP"
FT /ligand_id="ChEBI:CHEBI:37565"
FT /evidence="ECO:0000250"
FT VAR_SEQ 37..136
FT /note="LMERFLMDGFQPQQLSTYALTLYKHTATVDGKTILVDFWDTAGQERFQSMHA
FT SYYHKAHACIMVFDVQRKITYKNLGTWYAELREFRPEIPCILVANKID -> YLMSRGK
FT SPIRTWVP (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_053487"
FT VAR_SEQ 136
FT /note="D -> DGGASLHLGDSNSWGPSTTHFLLSKNGPPLFPFPRCSLSSREASSET
FT LSSQDTDPYYPCQGQSLTVPSPLTLPPNSSHCLGGQANAPLLSA (in isoform
FT 1)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_053488"
FT VAR_SEQ 170..200
FT /note="LFNDAIRLAVAYKESSQDFMDEVLQELENFK -> NFE (in isoform
FT 1)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_053489"
FT MUTAGEN 73
FT /note="D->G: In Mot; male sterility characterized by
FT reduced sperm output, and sperm with aberrant motility and
FT short tails."
FT /evidence="ECO:0000269|PubMed:23055941"
FT CONFLICT 6
FT /note="N -> S (in Ref. 3; AAH30376)"
FT /evidence="ECO:0000305"
FT CONFLICT 214
FT /note="S -> G (in Ref. 3; AAH30376)"
FT /evidence="ECO:0000305"
FT CONFLICT 215
FT /note="D -> G (in Ref. 1; BAE41635)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 223 AA; 25610 MW; F1B91EA169572807 CRC64;
MAGDRNRHCE LEQEKYDTHE NVKIICLGDS AVGKSKLMER FLMDGFQPQQ LSTYALTLYK
HTATVDGKTI LVDFWDTAGQ ERFQSMHASY YHKAHACIMV FDVQRKITYK NLGTWYAELR
EFRPEIPCIL VANKIDADIQ MTQKNFSFAK KFSLPLYFVS AADGTNVVKL FNDAIRLAVA
YKESSQDFMD EVLQELENFK LEQKEEDTSG QEQSDTTKSP SPS
