BTG4_HUMAN
ID BTG4_HUMAN Reviewed; 223 AA.
AC Q9NY30; Q8NEH7;
DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=Protein BTG4;
DE AltName: Full=BTG family member 4;
DE AltName: Full=Protein PC3b;
GN Name=BTG4; Synonyms=PC3B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=10995567; DOI=10.1006/geno.2000.6288;
RA Buanne P., Corrente G., Micheli L., Palena A., Lavia P., Spadafora C.,
RA Lakshmana M.K., Rinaldi A., Banfi S., Quarto M., Bulfone A., Tirone F.;
RT "Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth
RT inhibitory genes, highly expressed in the olfactory epithelium.";
RL Genomics 68:253-263(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [4]
RP FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH CNOT7, INVOLVEMENT IN OOMD8,
RP VARIANTS OOMD8 25-GLN--LEU-223 DEL AND THR-56, AND CHARACTERIZATION OF
RP VARIANT OOMD8 THR-56.
RX PubMed=32502391; DOI=10.1016/j.ajhg.2020.05.010;
RA Zheng W., Zhou Z., Sha Q., Niu X., Sun X., Shi J., Zhao L., Zhang S.,
RA Dai J., Cai S., Meng F., Hu L., Gong F., Li X., Fu J., Shi R., Lu G.,
RA Chen B., Fan H., Wang L., Lin G., Sang Q.;
RT "Homozygous mutations in BTG4 cause zygotic cleavage failure and female
RT infertility.";
RL Am. J. Hum. Genet. 107:24-33(2020).
CC -!- FUNCTION: Adapter protein that bridges CNOT7, a catalytic subunit of
CC the CCR4-NOT complex, to EIF4E (By similarity). Facilitates maternal
CC mRNAs decay during the maturation of oocytes and in the fertilized egg,
CC and is required for the maternal-zygotic transition (MZT), zygotic
CC cleavage and initiation of embryonic development (PubMed:32502391).
CC {ECO:0000250|UniProtKB:O70552, ECO:0000269|PubMed:32502391}.
CC -!- SUBUNIT: Interacts with CNOT7 (PubMed:32502391). Interacts with EIF4E
CC (By similarity). Interacts with CNOT8 (By similarity).
CC {ECO:0000250|UniProtKB:O70552, ECO:0000269|PubMed:32502391}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9NY30-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NY30-2; Sequence=VSP_053851;
CC -!- TISSUE SPECIFICITY: Expressed in oocytes after germinal vesicle
CC breakdown (PubMed:32502391). Expressed in testis and in olfactory
CC epithelium. {ECO:0000269|PubMed:32502391}.
CC -!- DISEASE: Oocyte maturation defect 8 (OOMD8) [MIM:619009]: An autosomal
CC recessive infertility disorder due to failure of the fertilized ovum to
CC undergo zygotic cleavage. {ECO:0000269|PubMed:32502391}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SIMILARITY: Belongs to the BTG family. {ECO:0000305}.
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DR EMBL; AJ271351; CAB69821.1; -; mRNA.
DR EMBL; AP002008; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031045; AAH31045.1; -; mRNA.
DR CCDS; CCDS8346.1; -. [Q9NY30-1]
DR RefSeq; NP_060059.1; NM_017589.3. [Q9NY30-1]
DR AlphaFoldDB; Q9NY30; -.
DR SMR; Q9NY30; -.
DR BioGRID; 120141; 1.
DR STRING; 9606.ENSP00000348300; -.
DR iPTMnet; Q9NY30; -.
DR PhosphoSitePlus; Q9NY30; -.
DR BioMuta; BTG4; -.
DR DMDM; 13626142; -.
DR MassIVE; Q9NY30; -.
DR PaxDb; Q9NY30; -.
DR PeptideAtlas; Q9NY30; -.
DR PRIDE; Q9NY30; -.
DR Antibodypedia; 32035; 155 antibodies from 23 providers.
DR DNASU; 54766; -.
DR Ensembl; ENST00000356018.6; ENSP00000348300.2; ENSG00000137707.14. [Q9NY30-1]
DR Ensembl; ENST00000525791.5; ENSP00000432018.1; ENSG00000137707.14. [Q9NY30-2]
DR GeneID; 54766; -.
DR KEGG; hsa:54766; -.
DR UCSC; uc001plj.4; human. [Q9NY30-1]
DR CTD; 54766; -.
DR DisGeNET; 54766; -.
DR GeneCards; BTG4; -.
DR HGNC; HGNC:13862; BTG4.
DR HPA; ENSG00000137707; Tissue enriched (testis).
DR MalaCards; BTG4; -.
DR MIM; 605673; gene.
DR MIM; 619009; phenotype.
DR neXtProt; NX_Q9NY30; -.
DR OpenTargets; ENSG00000137707; -.
DR PharmGKB; PA25453; -.
DR VEuPathDB; HostDB:ENSG00000137707; -.
DR eggNOG; KOG4006; Eukaryota.
DR GeneTree; ENSGT00950000182952; -.
DR HOGENOM; CLU_079660_3_0_1; -.
DR InParanoid; Q9NY30; -.
DR OMA; VDRYHWI; -.
DR OrthoDB; 1455216at2759; -.
DR PhylomeDB; Q9NY30; -.
DR TreeFam; TF105272; -.
DR PathwayCommons; Q9NY30; -.
DR BioGRID-ORCS; 54766; 8 hits in 1075 CRISPR screens.
DR ChiTaRS; BTG4; human.
DR GeneWiki; BTG4; -.
DR GenomeRNAi; 54766; -.
DR Pharos; Q9NY30; Tbio.
DR PRO; PR:Q9NY30; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9NY30; protein.
DR Bgee; ENSG00000137707; Expressed in oocyte and 45 other tissues.
DR ExpressionAtlas; Q9NY30; baseline and differential.
DR Genevisible; Q9NY30; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IBA:GO_Central.
DR GO; GO:0045930; P:negative regulation of mitotic cell cycle; IBA:GO_Central.
DR GO; GO:0030182; P:neuron differentiation; TAS:UniProtKB.
DR GO; GO:0051726; P:regulation of cell cycle; TAS:UniProtKB.
DR Gene3D; 3.90.640.90; -; 1.
DR InterPro; IPR002087; Anti_prolifrtn.
DR InterPro; IPR033332; BTG.
DR InterPro; IPR036054; BTG-like_sf.
DR PANTHER; PTHR22978; PTHR22978; 1.
DR Pfam; PF07742; BTG; 1.
DR PRINTS; PR00310; ANTIPRLFBTG1.
DR SMART; SM00099; btg1; 1.
DR SUPFAM; SSF160696; SSF160696; 1.
DR PROSITE; PS00960; BTG_1; 1.
DR PROSITE; PS01203; BTG_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Reference proteome.
FT CHAIN 1..223
FT /note="Protein BTG4"
FT /id="PRO_0000143810"
FT VAR_SEQ 172..223
FT /note="ENLKQPFQSWLQIPRKKNVVDGRVGLLGNTYHGSQKHPKCYRPAMHRLDRIL
FT -> KSVPVLFYTFFLSNSKKNALIMKTKKQKNMERTKL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_053851"
FT VARIANT 25..223
FT /note="Missing (in OOMD8)"
FT /evidence="ECO:0000269|PubMed:32502391"
FT /id="VAR_084759"
FT VARIANT 56
FT /note="A -> T (in OOMD8; loss-of-function variant resulting
FT in impaired maternal mRNA decay in fertilized oocytes from
FT the affected individual; abolishes the interaction with
FT CNOT7)"
FT /evidence="ECO:0000269|PubMed:32502391"
FT /id="VAR_084760"
SQ SEQUENCE 223 AA; 25970 MW; 7F78E134114D3E6E CRC64;
MRDEIATTVF FVTRLVKKHD KLSKQQIEDF AEKLMTILFE TYRSHWHSDC PSKGQAFRCI
RINNNQNKDP ILERACVESN VDFSHLGLPK EMTIWVDPFE VCCRYGEKNH PFTVASFKGR
WEEWELYQQI SYAVSRASSD VSSGTSCDEE SCSKEPRVIP KVSNPKSIYQ VENLKQPFQS
WLQIPRKKNV VDGRVGLLGN TYHGSQKHPK CYRPAMHRLD RIL
