| Tag | Content |
|---|---|
| Uniprot ID | Q3US41; A2AJQ4; A2AJQ5; A2AJQ6; A2AJQ7; A2AJQ8; Q3TLQ3; Q6PCL4; Q8C9F5; Q8K0G2; |
| Entrez ID | 207920 |
| Genbank protein ID | CAM20812.1; CAM20816.1; BAE38739.1; AAH31468.1; EDL05650.1; AAH59280.1; CAM20815.1; BAC31189.1; CAM20814.1; CAM20813.1; BAE24496.1; |
| Genbank nucleotide ID | NM_194055.3; XM_006537718.1; NM_001290383.1; XM_006537715.1; NM_001347052.1; |
| Ensembl protein ID | ENSMUSP00000103946; ENSMUSP00000103949; |
| Ensembl nucleotide ID | ENSMUSG00000040728 |
| Gene name | Epithelial splicing regulatory protein 1 |
| Gene symbol | Esrp1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CLP |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 2637150; 26371508; ; |
| Functional description | mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a cis-element regulatory region present in the mRNA of FGFR2 (By similarity). Regulates splicing and expression of genes involved in inner ear development, auditory hair cell differentiation, and cell fate specification in the cochlear epithelium (PubMed:29107558). |
| Sequence | MTASPDYLVV LFGITAGATG AKLGSDEKEL ILLLWKVVDL ANKKVGQLHE VLVRPDQLEL 60 TEDCKEETKI DAENLSSAPQ LDQALRQFNQ SVSNELNIGV GTSFCLCTDG QLHIRQILHP 120 EASKKNVLLP ECFYSFFDLR KEFKKCCPGS PDIDKLDVAA MTESLNFEKS DSVSRYGASQ 180 VEDMGNIILA MISEPYNHRF SDPERVNYKF ESGTCKMELI DDSTVVRARG LPWQSSDQDI 240 ARFFKGLNIA KGGAALCLNA QGRRNGEALV RFVSEEHRDL ALQRHKHHMG TRYIEVYKAT 300 GEDFLKIAGG TSNEVAQFLS KENQVIVRMR GLPFTATAEE VVAFFGQHCP ITGGKEGILF 360 VTYPDGRPTG DAFVLFACEE YAQNALRKHK ELLGKRYIEL FRSTAAEVQQ VLNRFSSAPL 420 IPLPTPPIIP VLPQQFVPPT NVRDCIRLRG LPYAATIEDI LDFLGEFSTD IRTHGVHMVL 480 NHQGRPSGDA FIQMKSTDRA FMAAQKYHKK TMKDRYVEVF QCSAEEMNFV LMGGTLNRNG 540 LSPPPCKLPC LSPPSYTFPA PTAVIPTEAA IYQPSLLLNP RALQPSTAYY PAGTQLFMNY 600 TAYYPSPPGS PNSLGYFPTA ANLSSVPPQP GTVVRMQGLA YNTGVKEILN FFQGYQYATE 660 DGLVHTNDQA RTLPKEWVCI |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003729 | mRNA binding | ISS |
| GO:0003729 | mRNA binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000380 | alternative mRNA splicing, via spliceosome | IGI |
| GO:0042669 | regulation of inner ear auditory receptor cell fate specification | IMP |
| GO:0043484 | regulation of RNA splicing | ISS |
| GO:0043484 | regulation of RNA splicing | ISO |
| GO:0043484 | regulation of RNA splicing | IMP |
| GO:0050679 | positive regulation of epithelial cell proliferation | IGI |
| GO:0060441 | epithelial tube branching involved in lung morphogenesis | IGI |
| GO:0060445 | branching involved in salivary gland morphogenesis | IGI |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005654 | nucleoplasm | ISO |
| GO:0016604 | nuclear body | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-162582 | Signal Transduction | IEA |
| R-MMU-190236 | Signaling by FGFR | IEA |
| R-MMU-5654738 | Signaling by FGFR2 | IEA |
| R-MMU-6803529 | FGFR2 alternative splicing | IEA |
| R-MMU-9006934 | Signaling by Receptor Tyrosine Kinases | IEA |
| PROSITE ID | PROSITE Term |
|---|---|
| PS50102 | RRM |