LOCUS       NP_071853                480 aa            linear   ROD 28-APR-2025
DEFINITION  splicing factor ESS-2 homolog isoform 1 [Mus musculus].
ACCESSION   NP_071853
VERSION     NP_071853.2
DBSOURCE    REFSEQ: accession NM_022408.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 480)
  AUTHORS   Takahashi,S., Takada,I., Hashimoto,K., Yokoyama,A., Nakagawa,T.,
            Makishima,M. and Kume,H.
  TITLE     ESS2 controls prostate cancer progression through recruitment of
            chromodomain helicase DNA binding protein 1
  JOURNAL   Sci Rep 13 (1), 12355 (2023)
   PUBMED   37524814
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 480)
  AUTHORS   Takada,I., Hidano,S., Takahashi,S., Yanaka,K., Ogawa,H.,
            Tsuchiya,M., Yokoyama,A., Sato,S., Ochi,H., Nakagawa,T.,
            Kobayashi,T., Nakagawa,S. and Makishima,M.
  TITLE     Transcriptional coregulator Ess2 controls survival of post-thymic
            CD4+ T cells through the Myc and IL-7 signaling pathways
  JOURNAL   J Biol Chem 298 (9), 102342 (2022)
   PUBMED   35933014
  REMARK    GeneRIF: Transcriptional coregulator Ess2 controls survival of
            post-thymic CD4(+) T cells through the Myc and IL-7 signaling
            pathways.
REFERENCE   3  (residues 1 to 480)
  AUTHORS   Paronett,E.M., Meechan,D.W., Karpinski,B.A., LaMantia,A.S. and
            Maynard,T.M.
  TITLE     Ranbp1, Deleted in DiGeorge/22q11.2 Deletion Syndrome, is a
            Microcephaly Gene That Selectively Disrupts Layer 2/3 Cortical
            Projection Neuron Generation
  JOURNAL   Cereb Cortex 25 (10), 3977-3993 (2015)
   PUBMED   25452572
REFERENCE   4  (residues 1 to 480)
  AUTHORS   Funato,H., Sato,M., Sinton,C.M., Gautron,L., Williams,S.C.,
            Skach,A., Elmquist,J.K., Skoultchi,A.I. and Yanagisawa,M.
  TITLE     Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in
            interpeduncular nucleus results in altered regulation of rapid eye
            movement sleep
  JOURNAL   Proc Natl Acad Sci U S A 107 (42), 18155-18160 (2010)
   PUBMED   20921407
  REMARK    GeneRIF: results indicate that the absence of Gscl and Dgcr14 in
            the IP results in altered regulation of REM sleep
REFERENCE   5  (residues 1 to 480)
  AUTHORS   Paylor,R., Glaser,B., Mupo,A., Ataliotis,P., Spencer,C.,
            Sobotka,A., Sparks,C., Choi,C.H., Oghalai,J., Curran,S.,
            Murphy,K.C., Monks,S., Williams,N., O'Donovan,M.C., Owen,M.J.,
            Scambler,P.J. and Lindsay,E.
  TITLE     Tbx1 haploinsufficiency is linked to behavioral disorders in mice
            and humans: implications for 22q11 deletion syndrome
  JOURNAL   Proc Natl Acad Sci U S A 103 (20), 7729-7734 (2006)
   PUBMED   16684884
REFERENCE   6  (residues 1 to 480)
  AUTHORS   Galili,N., Baldwin,H.S., Lund,J., Reeves,R., Gong,W., Wang,Z.,
            Roe,B.A., Emanuel,B.S., Nayak,S., Mickanin,C., Budarf,M.I. and
            Buck,C.A.
  TITLE     A region of mouse chromosome 16 is syntenic to the DiGeorge,
            velocardiofacial syndrome minimal critical region
  JOURNAL   Genome Res 7 (4), 399 (1997)
   PUBMED   9110179
  REMARK    Correction to:[Genome Res. 1997 Jan;7(1):17-26. doi:
            10.1101/gr.7.1.17. PMID: 9037598]
REFERENCE   7  (residues 1 to 480)
  AUTHORS   Gong,W., Emanuel,B.S., Galili,N., Kim,D.H., Roe,B., Driscoll,D.A.
            and Budarf,M.L.
  TITLE     Structural and mutational analysis of a conserved gene (DGSI) from
            the minimal DiGeorge syndrome critical region
  JOURNAL   Hum Mol Genet 6 (2), 267-276 (1997)
   PUBMED   9063747
REFERENCE   8  (residues 1 to 480)
  AUTHORS   Galili,N., Baldwin,H.S., Lund,J., Reeves,R., Gong,W., Wang,Z.,
            Roe,B.A., Emanuel,B.S., Nayak,S., Mickanin,C., Budarf,M.L. and
            Buck,C.A.
  TITLE     A region of mouse chromosome 16 is syntenic to the DiGeorge,
            velocardiofacial syndrome minimal critical region
  JOURNAL   Genome Res 7 (1), 17-26 (1997)
   PUBMED   9037598
  REMARK    Erratum:[Genome Res. 1997 Apr;7(4):399. PMID: 9110179]
REFERENCE   9  (residues 1 to 480)
  AUTHORS   Rizzu,P., Lindsay,E.A., Taylor,C., O'Donnell,H., Levy,A.,
            Scambler,P. and Baldini,A.
  TITLE     Cloning and comparative mapping of a gene from the commonly deleted
            region of DiGeorge and Velocardiofacial syndromes conserved in C.
            elegans
  JOURNAL   Mamm Genome 7 (9), 639-643 (1996)
   PUBMED   8703114
REFERENCE   10 (residues 1 to 480)
  AUTHORS   Halford,S., Wilson,D.I., Daw,S.C., Roberts,C., Wadey,R., Kamath,S.,
            Wickremasinghe,A., Burn,J., Goodship,J., Mattei,M.G. et al.
  TITLE     Isolation of a gene expressed during early embryogenesis from the
            region of 22q11 commonly deleted in DiGeorge syndrome
  JOURNAL   Hum Mol Genet 2 (10), 1577-1582 (1993)
   PUBMED   8268909
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY069641.1, AK148404.1,
            AC078895.34 and AI853516.1.
            
            On Feb 28, 2007 this sequence version replaced NP_071853.1.
            
            Summary: The human ortholog of this gene is located within the
            minimal DGS critical region (MDGCR) thought to contain the gene(s)
            responsible for a group of developmental disorders. These disorders
            include DiGeorge syndrome, velocardiofacial syndrome, conotruncal
            anomaly face syndrome, and some familial or sporadic conotruncal
            cardiac defects which have been associated with microdeletion of
            human chromosome band 22q11.2. The encoded protein localizes to the
            nucleus, and the orthologous protein in humans co-purifies with C
            complex spliceosomes. Multiple transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK148404.1, SRR7345562.3099608.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..480
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 11.09 cM"
     Protein         1..480
                     /product="splicing factor ESS-2 homolog isoform 1"
                     /note="DiGeorge syndrome critical region protein 14;
                     protein DGCR14; diGeorge syndrome critical region 14
                     homolog; splicing factor ESS-2 homolog; DiGeorge syndrome
                     critical region gene 14"
                     /calculated_mol_wt=52544
     Region          1..38
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O70279.2)"
     Site            1
                     /site_type="acetylation"
                     /note="N-acetylmethionine.
                     /evidence=ECO:0000250|UniProtKB:Q96DF8; propagated from
                     UniProtKB/Swiss-Prot (O70279.2)"
     Site            3
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q96DF8; propagated from
                     UniProtKB/Swiss-Prot (O70279.2)"
     Region          37..405
                     /region_name="Es2"
                     /note="Nuclear protein Es2; pfam09751"
                     /db_xref="CDD:430802"
     Site            296
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q96DF8; propagated from
                     UniProtKB/Swiss-Prot (O70279.2)"
     Site            390
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000250|UniProtKB:Q96DF8; propagated from
                     UniProtKB/Swiss-Prot (O70279.2)"
     Site            395
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21183079; propagated from
                     UniProtKB/Swiss-Prot (O70279.2)"
     Site            399
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q96DF8; propagated from
                     UniProtKB/Swiss-Prot (O70279.2)"
     Region          416..480
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O70279.2)"
     CDS             1..480
                     /gene="Ess2"
                     /gene_synonym="D16H22S1269E; Dgcr1; Dgcr14; Dgsi; ES2;
                     Es2el"
                     /coded_by="NM_022408.2:44..1486"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS28013.1"
                     /db_xref="GeneID:27886"
                     /db_xref="MGI:MGI:107854"
ORIGIN      
        1 mgtpgtsaga lflssasaps rkraageage agvarsrqrv ldeeeyiegl qtviqrdffp
       61 dveklqaqke yleaeengdl ermrqiaikf gsalgkisre ppppyvtpat fetpevhpgs
      121 avlgnkprpq grdlddagea geeeekeplp sldvflsqyt sednasfqei mevakeksha
      181 rhawlyqaee efekrqkdnl elpsaehqai essqagvetw kykaknslmy ypegvpdeeq
      241 lfkkprqivh kntrflrdpf sqalsrsqlq qaaalnaqhk qgkvgpdgke lipqesprvg
      301 gfgfvatpsp apgvnesplm twgeventpl rvegsespyv drtpgptfki lepgrrerlg
      361 lkmaneaaak nrakkqealr rvtenlaslt pkglspamsp alqrlvsrta skytdralra
      421 sytpsparss hlktpaggpq tptstpapgs atrtpltqdp asitdnllql parrkasdff
//
