ESRP1_MOUSE
ID ESRP1_MOUSE Reviewed; 680 AA.
AC Q3US41; A2AJQ4; A2AJQ5; A2AJQ6; A2AJQ7; A2AJQ8; Q3TLQ3; Q6PCL4; Q8C9F5;
AC Q8K0G2;
DT 23-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 2.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Epithelial splicing regulatory protein 1;
DE AltName: Full=RNA-binding motif protein 35A;
DE AltName: Full=RNA-binding protein 35A;
GN Name=Esrp1; Synonyms=Rbm35a;
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 1), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 14-680 (ISOFORM 4).
RC STRAIN=C57BL/6J; TISSUE=Head, Mammary gland, and Thymus;
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 GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 118-607 (ISOFORM 3).
RC STRAIN=Czech II, and FVB/N; 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 [5]
RP TISSUE SPECIFICITY.
RX PubMed=19285943; DOI=10.1016/j.molcel.2009.01.025;
RA Warzecha C.C., Sato T.K., Nabet B., Hogenesch J.B., Carstens R.P.;
RT "ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2
RT splicing.";
RL Mol. Cell 33:591-601(2009).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Pancreas;
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 [7]
RP FUNCTION, DEVELOPMENTAL STAGE, AND DISRUPTION PHENOTYPE.
RX PubMed=29107558; DOI=10.1016/j.devcel.2017.09.026;
RA Rohacek A.M., Bebee T.W., Tilton R.K., Radens C.M., McDermott-Roe C.,
RA Peart N., Kaur M., Zaykaner M., Cieply B., Musunuru K., Barash Y.,
RA Germiller J.A., Krantz I.D., Carstens R.P., Epstein D.J.;
RT "ESRP1 mutations cause hearing loss due to defects in alternative splicing
RT that disrupt cochlear development.";
RL Dev. Cell 43:318-331(2017).
CC -!- FUNCTION: mRNA splicing factor that regulates the formation of
CC epithelial cell-specific isoforms. Specifically regulates the
CC expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2.
CC Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that
CC undergo changes in splicing during the epithelial-to-mesenchymal
CC transition (EMT). Acts by directly binding specific sequences in mRNAs.
CC Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element
CC regulatory region present in the mRNA of FGFR2 (By similarity).
CC Regulates splicing and expression of genes involved in inner ear
CC development, auditory hair cell differentiation, and cell fate
CC specification in the cochlear epithelium (PubMed:29107558).
CC {ECO:0000250|UniProtKB:Q6NXG1, ECO:0000269|PubMed:29107558}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q3US41-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q3US41-2; Sequence=VSP_022468, VSP_022472, VSP_022473;
CC Name=3;
CC IsoId=Q3US41-3; Sequence=VSP_022468, VSP_022471, VSP_022472,
CC VSP_022473;
CC Name=4;
CC IsoId=Q3US41-4; Sequence=VSP_022468, VSP_022469, VSP_022470;
CC Name=5;
CC IsoId=Q3US41-5; Sequence=VSP_022468, VSP_022471;
CC -!- TISSUE SPECIFICITY: Epithelial cell-specific. Epithelial-specific
CC expression in diverse tissues and organs with particularly notable
CC levels of expression in skin and gastrointestinal epithelia.
CC {ECO:0000269|PubMed:19285943}.
CC -!- DEVELOPMENTAL STAGE: It is broadly expressed throughout the epithelium
CC of the otic vesicle at embryonic day 10.5 dpc, but it is absent from
CC the surrounding mesenchyme. High expression is detected in sensory and
CC non-sensory epithelial progenitors during cochlear and vestibular
CC morphogenesis, although the level is weaker at later stages of inner
CC ear development. {ECO:0000269|PubMed:29107558}.
CC -!- DISRUPTION PHENOTYPE: Homozygous knockout mice die soon after birth due
CC to complications from cleft-lip and palate defects. Knockout embryos
CC show alterations in inner ear morphogenesis and auditory hair cell
CC differentiation. {ECO:0000269|PubMed:29107558}.
CC -!- SIMILARITY: Belongs to the ESRP family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAM20812.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAM20813.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAM20814.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAM20816.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=EDL05650.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK042164; BAC31189.1; -; mRNA.
DR EMBL; AK140848; BAE24496.1; -; mRNA.
DR EMBL; AK166376; BAE38739.1; -; mRNA.
DR EMBL; AL772170; CAM20812.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL772170; CAM20813.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL772170; CAM20814.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL772170; CAM20815.1; -; Genomic_DNA.
DR EMBL; AL772170; CAM20816.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH466538; EDL05650.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC031468; AAH31468.1; -; mRNA.
DR EMBL; BC059280; AAH59280.1; -; mRNA.
DR CCDS; CCDS84703.1; -. [Q3US41-3]
DR RefSeq; NP_001277312.1; NM_001290383.1. [Q3US41-1]
DR RefSeq; NP_001333981.1; NM_001347052.1. [Q3US41-3]
DR RefSeq; NP_918944.2; NM_194055.3.
DR RefSeq; XP_006537778.1; XM_006537715.1. [Q3US41-5]
DR RefSeq; XP_006537781.1; XM_006537718.1. [Q3US41-2]
DR AlphaFoldDB; Q3US41; -.
DR SMR; Q3US41; -.
DR BioGRID; 228933; 1.
DR STRING; 10090.ENSMUSP00000103947; -.
DR iPTMnet; Q3US41; -.
DR PhosphoSitePlus; Q3US41; -.
DR MaxQB; Q3US41; -.
DR PaxDb; Q3US41; -.
DR PeptideAtlas; Q3US41; -.
DR PRIDE; Q3US41; -.
DR ProteomicsDB; 275684; -. [Q3US41-1]
DR ProteomicsDB; 275685; -. [Q3US41-2]
DR ProteomicsDB; 275686; -. [Q3US41-3]
DR ProteomicsDB; 275687; -. [Q3US41-4]
DR ProteomicsDB; 275688; -. [Q3US41-5]
DR Antibodypedia; 6696; 158 antibodies from 29 providers.
DR DNASU; 207920; -.
DR Ensembl; ENSMUST00000108310; ENSMUSP00000103946; ENSMUSG00000040728. [Q3US41-5]
DR Ensembl; ENSMUST00000108313; ENSMUSP00000103949; ENSMUSG00000040728. [Q3US41-3]
DR GeneID; 207920; -.
DR KEGG; mmu:207920; -.
DR UCSC; uc008rzk.3; mouse. [Q3US41-3]
DR UCSC; uc008rzl.3; mouse. [Q3US41-2]
DR UCSC; uc008rzm.3; mouse. [Q3US41-1]
DR UCSC; uc008rzn.1; mouse. [Q3US41-4]
DR CTD; 54845; -.
DR MGI; MGI:1917326; Esrp1.
DR VEuPathDB; HostDB:ENSMUSG00000040728; -.
DR eggNOG; KOG1365; Eukaryota.
DR GeneTree; ENSGT00940000159511; -.
DR HOGENOM; CLU_008009_2_1_1; -.
DR InParanoid; Q3US41; -.
DR OrthoDB; 376996at2759; -.
DR PhylomeDB; Q3US41; -.
DR Reactome; R-MMU-6803529; FGFR2 alternative splicing.
DR BioGRID-ORCS; 207920; 3 hits in 73 CRISPR screens.
DR ChiTaRS; Esrp1; mouse.
DR PRO; PR:Q3US41; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q3US41; protein.
DR Bgee; ENSMUSG00000040728; Expressed in tail skin and 153 other tissues.
DR ExpressionAtlas; Q3US41; baseline and differential.
DR Genevisible; Q3US41; MM.
DR GO; GO:0016604; C:nuclear body; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:1990904; C:ribonucleoprotein complex; IBA:GO_Central.
DR GO; GO:0003729; F:mRNA binding; ISS:UniProtKB.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0000380; P:alternative mRNA splicing, via spliceosome; IGI:MGI.
DR GO; GO:0060445; P:branching involved in salivary gland morphogenesis; IGI:MGI.
DR GO; GO:0050673; P:epithelial cell proliferation; IGI:MGI.
DR GO; GO:0060441; P:epithelial tube branching involved in lung morphogenesis; IGI:MGI.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IGI:MGI.
DR GO; GO:0042669; P:regulation of inner ear auditory receptor cell fate specification; IMP:UniProtKB.
DR GO; GO:0043484; P:regulation of RNA splicing; IMP:UniProtKB.
DR CDD; cd12736; RRM1_ESRP1; 1.
DR Gene3D; 3.30.420.10; -; 1.
DR Gene3D; 3.30.70.330; -; 3.
DR InterPro; IPR034427; ESRP1_RRM1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR012337; RNaseH-like_sf.
DR InterPro; IPR036397; RNaseH_sf.
DR InterPro; IPR000504; RRM_dom.
DR SMART; SM00360; RRM; 3.
DR SUPFAM; SSF53098; SSF53098; 1.
DR SUPFAM; SSF54928; SSF54928; 3.
DR PROSITE; PS50102; RRM; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Methylation; mRNA processing; mRNA splicing; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat; RNA-binding.
FT CHAIN 1..680
FT /note="Epithelial splicing regulatory protein 1"
FT /id="PRO_0000273047"
FT DOMAIN 224..301
FT /note="RRM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 325..405
FT /note="RRM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 444..524
FT /note="RRM 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT MOD_RES 542
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9H6T0"
FT MOD_RES 581
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q6NXG1"
FT VAR_SEQ 215
FT /note="C -> CS (in isoform 2, isoform 3, isoform 4 and
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:16141072"
FT /id="VSP_022468"
FT VAR_SEQ 484..513
FT /note="GRPSGDAFIQMKSTDRAFMAAQKYHKKTMK -> VRGVIGKCVCSFLRPSAP
FT SSITAQRFTLPL (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_022469"
FT VAR_SEQ 514..680
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_022470"
FT VAR_SEQ 545..548
FT /note="Missing (in isoform 3 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022471"
FT VAR_SEQ 607
FT /note="P -> V (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022472"
FT VAR_SEQ 608..680
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_022473"
FT CONFLICT 113
FT /note="H -> N (in Ref. 1; BAE24496)"
FT /evidence="ECO:0000305"
FT CONFLICT 127
FT /note="V -> L (in Ref. 4; AAH31468)"
FT /evidence="ECO:0000305"
FT CONFLICT 206
FT /note="V -> L (in Ref. 4; AAH31468)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 680 AA; 75549 MW; 972BF5D6AFB5FFD4 CRC64;
MTASPDYLVV LFGITAGATG AKLGSDEKEL ILLLWKVVDL ANKKVGQLHE VLVRPDQLEL
TEDCKEETKI DAENLSSAPQ LDQALRQFNQ SVSNELNIGV GTSFCLCTDG QLHIRQILHP
EASKKNVLLP ECFYSFFDLR KEFKKCCPGS PDIDKLDVAA MTESLNFEKS DSVSRYGASQ
VEDMGNIILA MISEPYNHRF SDPERVNYKF ESGTCKMELI DDSTVVRARG LPWQSSDQDI
ARFFKGLNIA KGGAALCLNA QGRRNGEALV RFVSEEHRDL ALQRHKHHMG TRYIEVYKAT
GEDFLKIAGG TSNEVAQFLS KENQVIVRMR GLPFTATAEE VVAFFGQHCP ITGGKEGILF
VTYPDGRPTG DAFVLFACEE YAQNALRKHK ELLGKRYIEL FRSTAAEVQQ VLNRFSSAPL
IPLPTPPIIP VLPQQFVPPT NVRDCIRLRG LPYAATIEDI LDFLGEFSTD IRTHGVHMVL
NHQGRPSGDA FIQMKSTDRA FMAAQKYHKK TMKDRYVEVF QCSAEEMNFV LMGGTLNRNG
LSPPPCKLPC LSPPSYTFPA PTAVIPTEAA IYQPSLLLNP RALQPSTAYY PAGTQLFMNY
TAYYPSPPGS PNSLGYFPTA ANLSSVPPQP GTVVRMQGLA YNTGVKEILN FFQGYQYATE
DGLVHTNDQA RTLPKEWVCI
