LOCUS       NP_001362309             629 aa            linear   PRI 29-APR-2025
DEFINITION  transcription factor COE3 isoform 1 [Homo sapiens].
ACCESSION   NP_001362309 XP_006717802
VERSION     NP_001362309.1
DBSOURCE    REFSEQ: accession NM_001375380.1
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 629)
  AUTHORS   Hu,W., Wang,M., Sun,G., Zhang,L. and Lu,H.
  TITLE     Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through
            directly regulating contactin-associated protein-like 4 (CNTNAP4)
            transcription: An experimental study
  JOURNAL   Cell Signal 118, 111139 (2024)
   PUBMED   38479556
  REMARK    GeneRIF: Early B Cell Factor 3 (EBF3) attenuates Parkinson's
            disease through directly regulating contactin-associated
            protein-like 4 (CNTNAP4) transcription: An experimental study.
REFERENCE   2  (residues 1 to 629)
  AUTHORS   Deisseroth,C.A., Lerma,V.C., Magyar,C.L., Pfliger,J.M., Nayak,A.,
            Bliss,N.D., LeMaire,A.W., Narayanan,V., Balak,C., Zanni,G.,
            Valente,E.M., Bertini,E., Benke,P.J., Wangler,M.F. and Chao,H.T.
  TITLE     An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk
            Subtype Association for EBF3 Missense Variants Affecting the Zinc
            Finger Domain
  JOURNAL   Ann Neurol 92 (1), 138-153 (2022)
   PUBMED   35340043
  REMARK    GeneRIF: An Integrated Phenotypic and Genotypic Approach Reveals a
            High-Risk Subtype Association for EBF3 Missense Variants Affecting
            the Zinc Finger Domain.
REFERENCE   3  (residues 1 to 629)
  AUTHORS   Ignatius,E., Puosi,R., Palomaki,M., Forsbom,N., Pohjanpelto,M.,
            Alitalo,T., Anttonen,A.K., Avela,K., Haataja,L., Carroll,C.J.,
            Lonnqvist,T. and Isohanni,P.
  TITLE     Duplication/triplication mosaicism of EBF3 and expansion of the
            EBF3 neurodevelopmental disorder phenotype
  JOURNAL   Eur J Paediatr Neurol 37, 1-7 (2022)
   PUBMED   34999443
  REMARK    GeneRIF: Duplication/triplication mosaicism of EBF3 and expansion
            of the EBF3 neurodevelopmental disorder phenotype.
REFERENCE   4  (residues 1 to 629)
  AUTHORS   Kim,J., Min,S.Y., Lee,H.E. and Kim,W.H.
  TITLE     Aberrant DNA methylation and tumor suppressive activity of the EBF3
            gene in gastric carcinoma
  JOURNAL   Int J Cancer 130 (4), 817-826 (2012)
   PUBMED   21387304
  REMARK    GeneRIF: EBF3 tumor suppressor is epigenetically silenced and that
            it serves as an independent prognostic marker in gastric carcinoma.
REFERENCE   5  (residues 1 to 629)
  AUTHORS   Liao,D.
  TITLE     Emerging roles of the EBF family of transcription factors in tumor
            suppression
  JOURNAL   Mol Cancer Res 7 (12), 1893-1901 (2009)
   PUBMED   19996307
  REMARK    Review article
REFERENCE   6  (residues 1 to 629)
  AUTHORS   Mao,L.P., Wang,H.M., Wang,Y.G. and Wang,X.Y.
  TITLE     [Construction of eukaryotic expression vector for EBF3 and EGFP
            fusion protein and its expression in HepG2 cells]
  JOURNAL   Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 24 (10), 954-957 (2008)
   PUBMED   18845077
  REMARK    GeneRIF: Findings suggested that the transfection of EBF3 gene into
            HepG2 induced the cell proliferation from G1 phase to G2 phase by
            increasing the number of cells.
REFERENCE   7  (residues 1 to 629)
  AUTHORS   Bennett,K.L., Karpenko,M., Lin,M.T., Claus,R., Arab,K.,
            Dyckhoff,G., Plinkert,P., Herpel,E., Smiraglia,D. and Plass,C.
  TITLE     Frequently methylated tumor suppressor genes in head and neck
            squamous cell carcinoma
  JOURNAL   Cancer Res 68 (12), 4494-4499 (2008)
   PUBMED   18559491
  REMARK    GeneRIF: Frequent methylation of EBF3 gene is associated with head
            and neck squamous cell carcinoma
REFERENCE   8  (residues 1 to 629)
  AUTHORS   Zhao,L.Y., Niu,Y., Santiago,A., Liu,J., Albert,S.H., Robertson,K.D.
            and Liao,D.
  TITLE     An EBF3-mediated transcriptional program that induces cell cycle
            arrest and apoptosis
  JOURNAL   Cancer Res 66 (19), 9445-9452 (2006)
   PUBMED   17018599
  REMARK    GeneRIF: Expression of EBF3 resulted in cell cycle arrest and
            apoptosis. EBF3 regulates a transcriptional program underlying a
            putative tumor suppression pathway.
REFERENCE   9  (residues 1 to 629)
  AUTHORS   Zardo,G., Tiirikainen,M.I., Hong,C., Misra,A., Feuerstein,B.G.,
            Volik,S., Collins,C.C., Lamborn,K.R., Bollen,A., Pinkel,D.,
            Albertson,D.G. and Costello,J.F.
  TITLE     Integrated genomic and epigenomic analyses pinpoint biallelic gene
            inactivation in tumors
  JOURNAL   Nat Genet 32 (3), 453-458 (2002)
   PUBMED   12355068
REFERENCE   10 (residues 1 to 629)
  AUTHORS   Narayanan,D.L., Kutsche,K. and Girisha,K.M.
  TITLE     EBF3 Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   33956416
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL354950.8.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 25, 2019 this sequence version replaced XP_006717802.1.
            
            Summary: This gene encodes a member of the early B-cell factor
            (EBF) family of DNA binding transcription factors. EBF proteins are
            involved in B-cell differentiation, bone development and
            neurogenesis, and may also function as tumor suppressors. The
            encoded protein inhibits cell survival through the regulation of
            genes involved in cell cycle arrest and apoptosis, and aberrant
            methylation or deletion of this gene may play a role in multiple
            malignancies including glioblastoma multiforme and gastric
            carcinoma. [provided by RefSeq, Sep 2011].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000440978.2/ ENSP00000387543.2
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, expression, longest
                                         protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..629
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     Protein         1..629
                     /product="transcription factor COE3 isoform 1"
                     /note="transcription factor COE3; olf-1/EBF-like 2; early
                     B cell factor 3"
                     /calculated_mol_wt=68401
     Region          1..22
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     Region          21..247
                     /region_name="COE1_DBD"
                     /note="Transcription factor COE1 DNA-binding domain;
                     pfam16422"
                     /db_xref="CDD:435333"
     Site            order(63..67,157,160..163,169..172,174,197,199,201..205,
                     233,235..240)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212156"
     Region          63..66
                     /region_name="Interaction with DNA. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     Site            163
                     /site_type="other"
                     /note="Interaction with DNA. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     Site            172
                     /site_type="other"
                     /note="Interaction with DNA. /evidence=ECO:0000250;
                     propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     Region          197..204
                     /region_name="Interaction with DNA. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     Region          236..239
                     /region_name="Interaction with DNA. /evidence=ECO:0000250"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     Region          263..347
                     /region_name="IPT_COE"
                     /note="IPT domain of the COE family (Col/Olf-1/EBF) of
                     non-basic, helix-loop-helix (HLH)-containing transcription
                     factors. COE family proteins are all transcription factors
                     and play an important role in variety of developmental
                     processes. Mouse EBF is involved...; cd01175"
                     /db_xref="CDD:238580"
     Region          348..391
                     /region_name="COE1_HLH"
                     /note="Transcription factor COE1 helix-loop-helix domain;
                     pfam16423"
                     /db_xref="CDD:406751"
     Region          451..483
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9H4W6.2)"
     CDS             1..629
                     /gene="EBF3"
                     /gene_synonym="COE3; EBF-3; HADDS; O/E-2; OE-2"
                     /coded_by="NM_001375380.1:507..2396"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS91377.1"
                     /db_xref="GeneID:253738"
                     /db_xref="HGNC:HGNC:19087"
                     /db_xref="MIM:607407"
ORIGIN      
        1 mfgiqenipr ggttmkeepl gsgmnpvrsw mhtagvvdan taaqsgvgla rahfekqpps
       61 nlrksnffhf vlalydrqgq pveiertafv dfvekekepn nektnngihy klqllysngv
      121 rteqdlyvrl idsmtkqaiv yegqdknpem crvlltheim csrccdkksc gnrnetpsdp
      181 viidrfflkf flkcnqnclk nagnprdmrr fqvvvsttvn vdghvlavsd nmfvhnnskh
      241 grrarrldps egtapsylen atpcikaisp segwttggat viiigdnffd glqvvfgtml
      301 vwselitpha irvqtpprhi pgvvevtlsy kskqfckgap grfvytalne ptidygfqrl
      361 qkviprhpgd perlpkevll kraadlveal ygmphnnqei ilkraadiae alysvprnhn
      421 qiptlgnnpa htgmmgvnsf ssqlavnvse tsqandqvgy srntssvspr gyvpsstpqq
      481 snyntvstsm ngygsgamas lgvpgspgfl ngssanspyg ivpssptmaa ssvtlpsncs
      541 sthgifsfsp anvisavkqk safapvvrpq aspppsctsa ngnglqgsll gaedvaaekt
      601 nwpfcevggi fhfdelmlkk gtgklclgw
//
