PERC1_MOUSE
ID PERC1_MOUSE Reviewed; 273 AA.
AC A0A286YDK6;
DT 18-SEP-2019, integrated into UniProtKB/Swiss-Prot.
DT 22-NOV-2017, sequence version 1.
DT 03-AUG-2022, entry version 25.
DE RecName: Full=Protein PERCC1 {ECO:0000305};
DE AltName: Full=Proline and glutamage-rich protein with a coiled coil domain {ECO:0000303|PubMed:31217582};
GN Name=Percc1 {ECO:0000303|PubMed:31217582};
GN Synonyms=Gm38655 {ECO:0000312|MGI:MGI:5621540};
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 [MRNA], FUNCTION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RC TISSUE=Stomach {ECO:0000312|EMBL:AWQ13284.1};
RX PubMed=31217582; DOI=10.1038/s41586-019-1312-2;
RA Oz-Levi D., Olender T., Bar-Joseph I., Zhu Y., Marek-Yagel D., Barozzi I.,
RA Osterwalder M., Alkelai A., Ruzzo E.K., Han Y., Vos E.S.M., Reznik-Wolf H.,
RA Hartman C., Shamir R., Weiss B., Shapiro R., Pode-Shakked B., Tatarskyy P.,
RA Milgrom R., Schvimer M., Barshack I., Imai D.M., Coleman-Derr D.,
RA Dickel D.E., Nord A.S., Afzal V., van Bueren K.L., Barnes R.M., Black B.L.,
RA Mayhew C.N., Kuhar M.F., Pitstick A., Tekman M., Stanescu H.C., Wells J.M.,
RA Kleta R., de Laat W., Goldstein D.B., Pras E., Visel A., Lancet D.,
RA Anikster Y., Pennacchio L.A.;
RT "Noncoding deletions reveal a gene that is critical for intestinal
RT function.";
RL Nature 571:107-111(2019).
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).
CC -!- FUNCTION: Plays a critical role in intestinal function by promoting the
CC development of enteroendocrine cells (EECs) of the gastrointestinal
CC tract and pancreas (PubMed:31217582). It is thereby required for normal
CC enteroendocrine peptide hormone secretion (PubMed:31217582).
CC {ECO:0000269|PubMed:31217582}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in the stomach, pancreas and
CC intestine (PubMed:31217582). In gastrointestinal tissue, expression is
CC primarily restricted to gastric G cells and duodenal enteroendocrine
CC cells (EECs) (PubMed:31217582). {ECO:0000269|PubMed:31217582}.
CC -!- DISRUPTION PHENOTYPE: Mice were born at the expected Mendelian
CC frequency and do not show gross phenotypes at birth (PubMed:31217582).
CC within the first days of life, mice however display reduced size, low
CC body weight and substantially decreased survival (PubMed:31217582).
CC Examination of fecal pellets and internal organs reveal abnormal
CC digestive-tract function, as well as changes in the composition of the
CC intestinal microbiome (PubMed:31217582). Defects are caused by impaired
CC expression of gastrointestinal peptide hormones and development of
CC enteroendocrine cells (EECs) (PubMed:31217582).
CC {ECO:0000269|PubMed:31217582}.
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DR EMBL; KY964488; AWQ13284.1; -; mRNA.
DR EMBL; AC130711; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS89018.1; -.
DR RefSeq; XP_011245063.1; XM_011246761.2.
DR AlphaFoldDB; A0A286YDK6; -.
DR Ensembl; ENSMUST00000224277; ENSMUSP00000153456; ENSMUSG00000114245.
DR MGI; MGI:5621540; Percc1.
DR VEuPathDB; HostDB:ENSMUSG00000114245; -.
DR GeneTree; ENSGT00390000002827; -.
DR OMA; YEDDRMS; -.
DR OrthoDB; 1457597at2759; -.
DR PRO; PR:A0A286YDK6; -.
DR Proteomes; UP000000589; Chromosome 17.
DR RNAct; A0A286YDK6; protein.
DR Bgee; ENSMUSG00000114245; Expressed in stomach and 20 other tissues.
DR GO; GO:0048546; P:digestive tract morphogenesis; IMP:UniProtKB.
DR GO; GO:0035883; P:enteroendocrine cell differentiation; IDA:UniProtKB.
PE 2: Evidence at transcript level;
KW Developmental protein; Reference proteome.
FT CHAIN 1..273
FT /note="Protein PERCC1"
FT /id="PRO_0000447992"
FT REGION 18..84
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 253..273
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..56
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 57..84
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 273 AA; 30189 MW; 7ADE67DB1A18081B CRC64;
MAAGVIRSVC DFRLPLPSHE SFLPIDLEAP EISEEEEEEE EEEEEEEEEE EVDQDQQGEG
SQGCGPDSQS SGVVPQDPSS PETPMQLLRF SELISGDIQR YFGRKDTGQD PDAQDIYADS
QPASCSARDL YYADLVCLAQ DGPPEDEEAA EFRMHLPGGP EGQVHRLGHR GDRVPPLGPL
AELFDYGLRQ FSRPRISACR RLRLERKYSH ITPMTQRKLP PSFWKEPVPN PLGLLHVGTP
DFSDLLASWS AEGGSELQSG GTQGLEGTQL AEV
