PAX5H_CAEEL
ID PAX5H_CAEEL Reviewed; 289 AA.
AC G5ED14;
DT 03-AUG-2022, integrated into UniProtKB/Swiss-Prot.
DT 14-DEC-2011, sequence version 1.
DT 03-AUG-2022, entry version 93.
DE RecName: Full=Paired box protein 5 homolog {ECO:0000305};
DE AltName: Full=Egg laying defective egl-38 {ECO:0000312|WormBase:C04G2.7};
GN Name=egl-38 {ECO:0000312|WormBase:C04G2.7};
GN ORFNames=C04G2.7 {ECO:0000312|WormBase:C04G2.7};
OS Caenorhabditis elegans.
OC Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
OC Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae;
OC Caenorhabditis.
OX NCBI_TaxID=6239 {ECO:0000312|Proteomes:UP000001940};
RN [1] {ECO:0000312|EMBL:AAC27976.1}
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND MUTAGENESIS OF GLY-61 AND GLY-97.
RX PubMed=9374390; DOI=10.1242/dev.124.20.3919;
RA Chamberlin H.M., Palmer R.E., Newman A.P., Sternberg P.W., Baillie D.L.,
RA Thomas J.H.;
RT "The PAX gene egl-38 mediates developmental patterning in Caenorhabditis
RT elegans.";
RL Development 124:3919-3928(1997).
RN [2] {ECO:0000312|Proteomes:UP000001940}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Bristol N2 {ECO:0000312|Proteomes:UP000001940};
RX PubMed=9851916; DOI=10.1126/science.282.5396.2012;
RG The C. elegans sequencing consortium;
RT "Genome sequence of the nematode C. elegans: a platform for investigating
RT biology.";
RL Science 282:2012-2018(1998).
RN [3] {ECO:0000305}
RP FUNCTION, AND MUTAGENESIS OF GLY-37.
RX PubMed=10511553; DOI=10.1093/genetics/153.2.731;
RA Chamberlin H.M., Brown K.B., Sternberg P.W., Thomas J.H.;
RT "Characterization of seven genes affecting Caenorhabditis elegans hindgut
RT development.";
RL Genetics 153:731-742(1999).
RN [4] {ECO:0000305}
RP FUNCTION, SUBCELLULAR LOCATION, AND MUTAGENESIS OF GLY-37; GLY-61 AND
RP GLY-97.
RX PubMed=11532910; DOI=10.1242/dev.128.15.2857;
RA Johnson A.D., Fitzsimmons D., Hagman J., Chamberlin H.M.;
RT "EGL-38 Pax regulates the ovo-related gene lin-48 during Caenorhabditis
RT elegans organ development.";
RL Development 128:2857-2865(2001).
RN [5] {ECO:0000305}
RP FUNCTION, AND MUTAGENESIS OF GLY-37; MET-57; GLY-61 AND GLY-97.
RX PubMed=15923112; DOI=10.1016/j.mod.2005.04.005;
RA Zhang G., Sleiman S.F., Tseng R.J., Rajakumar V., Wang X., Chamberlin H.M.;
RT "Alteration of the DNA binding domain disrupts distinct functions of the C.
RT elegans Pax protein EGL-38.";
RL Mech. Dev. 122:887-899(2005).
RN [6] {ECO:0000305}
RP FUNCTION, SUBCELLULAR LOCATION, AND MUTAGENESIS OF GLY-97.
RX PubMed=17021039; DOI=10.1242/dev.02614;
RA Park D., Jia H., Rajakumar V., Chamberlin H.M.;
RT "Pax2/5/8 proteins promote cell survival in C. elegans.";
RL Development 133:4193-4202(2006).
RN [7] {ECO:0000305}
RP FUNCTION, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF GLY-97.
RX PubMed=17020758; DOI=10.1016/j.ydbio.2006.08.068;
RA Rajakumar V., Chamberlin H.M.;
RT "The Pax2/5/8 gene egl-38 coordinates organogenesis of the C. elegans egg-
RT laying system.";
RL Dev. Biol. 301:240-253(2007).
RN [8] {ECO:0000305}
RP FUNCTION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF
RP GLY-61 AND GLY-97.
RX PubMed=31398431; DOI=10.1016/j.mod.2019.103566;
RA Webb Chasser A.M., Johnson R.W., Chamberlin H.M.;
RT "EGL-38/Pax coordinates development in the Caenhorhabditis elegans egg-
RT laying system through EGF pathway dependent and independent functions.";
RL Mech. Dev. 159:103566-103566(2019).
CC -!- FUNCTION: Transcription factor (PubMed:17021039). Binds to specific DNA
CC sequence motifs in regulatory elements, for example in the genes
CC encoding transcription factor lin-48, apoptosis regulator ced-9 and
CC neuropeptide-like protein nlp-2 (PubMed:17021039, PubMed:15923112,
CC PubMed:11532910, PubMed:31398431). Specifies cell fate, playing an
CC essential role in embryonic and larval development (PubMed:9374390,
CC PubMed:10511553, PubMed:31398431, PubMed:17020758). Involved in
CC morphogenesis of the vulva and uterus in hermaphrodites and of the
CC rectal epithelium of the tail in males (PubMed:9374390,
CC PubMed:15923112, PubMed:31398431, PubMed:17020758). Plays multiple
CC roles in the development of the egg-laying system, acting in both lin-
CC 3/EGF-pathway-dependent and -independent processes (PubMed:31398431,
CC PubMed:17020758). Positively regulates expression of neuropeptide-like
CC proteins nlp-2 and nlp-7 in uvl cells in an EGF-pathway-dependent
CC manner (PubMed:31398431). Involved in negatively modulating apoptosis
CC in germline and somatic cells, acting in partial redundancy with
CC transcription factor pax-2, probably by directly regulating
CC transcription of ced-9 (PubMed:17021039). Positively regulates
CC transcription of lin-48 in hindgut cells and functions in the
CC development of the hindgut (PubMed:11532910, PubMed:15923112,
CC PubMed:10511553). {ECO:0000269|PubMed:10511553,
CC ECO:0000269|PubMed:11532910, ECO:0000269|PubMed:15923112,
CC ECO:0000269|PubMed:17020758, ECO:0000269|PubMed:17021039,
CC ECO:0000269|PubMed:31398431, ECO:0000269|PubMed:9374390}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00381,
CC ECO:0000305|PubMed:11532910, ECO:0000305|PubMed:17021039,
CC ECO:0000305|PubMed:31398431}. Chromosome {ECO:0000269|PubMed:17021039}.
CC -!- DEVELOPMENTAL STAGE: Expressed early in the larval L3 stage, in both
CC P6.px daughters and all four P6.pxx granddaughters following the first
CC and second divisions of the vulval precursor cells (VPCs)
CC (PubMed:31398431). After final VPC divisions, expressed in vulF and
CC vulE cells (derived from P6.p) and persists into mid-L4 larval stage
CC (PubMed:31398431, PubMed:17020758). Expression in vulF and vulE
CC diminishes during mid-L4 so that by the transition to late L4, only
CC uterine ventral (uv1) cell expression remains (PubMed:31398431,
CC PubMed:17020758). Expression in uvl continues through the adult molt
CC into adulthood (PubMed:31398431). {ECO:0000269|PubMed:17020758,
CC ECO:0000269|PubMed:31398431}.
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DR EMBL; AF002702; AAC27976.1; -; mRNA.
DR EMBL; BX284604; CAA94671.1; -; Genomic_DNA.
DR PIR; T18919; T18919.
DR RefSeq; NP_501836.1; NM_069435.4.
DR SMR; G5ED14; -.
DR IntAct; G5ED14; 3.
DR STRING; 6239.C04G2.7; -.
DR EnsemblMetazoa; C04G2.7.1; C04G2.7.1; WBGene00001204.
DR GeneID; 177876; -.
DR KEGG; cel:CELE_C04G2.7; -.
DR CTD; 177876; -.
DR WormBase; C04G2.7; CE05215; WBGene00001204; egl-38.
DR eggNOG; KOG3862; Eukaryota.
DR GeneTree; ENSGT00940000165812; -.
DR HOGENOM; CLU_915967_0_0_1; -.
DR OMA; HADMSLV; -.
DR OrthoDB; 592933at2759; -.
DR Reactome; R-CEL-8939245; RUNX1 regulates transcription of genes involved in BCR signaling.
DR Proteomes; UP000001940; Chromosome IV.
DR Bgee; WBGene00001204; Expressed in pharyngeal muscle cell (C elegans) and 3 other tissues.
DR GO; GO:0005634; C:nucleus; IDA:WormBase.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISS:WormBase.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:WormBase.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:WormBase.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0001708; P:cell fate specification; IMP:WormBase.
DR GO; GO:0009792; P:embryo development ending in birth or egg hatching; IMP:WormBase.
DR GO; GO:0002119; P:nematode larval development; IMP:WormBase.
DR GO; GO:0045138; P:nematode male tail tip morphogenesis; IMP:WormBase.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IMP:WormBase.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060065; P:uterus development; IMP:WormBase.
DR GO; GO:0040025; P:vulval development; IMP:WormBase.
DR Gene3D; 1.10.10.10; -; 2.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR043182; PAIRED_DNA-bd_dom.
DR InterPro; IPR001523; Paired_dom.
DR InterPro; IPR043565; PAX_fam.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR PANTHER; PTHR45636; PTHR45636; 1.
DR Pfam; PF00292; PAX; 1.
DR PRINTS; PR00027; PAIREDBOX.
DR SMART; SM00351; PAX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00034; PAIRED_1; 1.
DR PROSITE; PS51057; PAIRED_2; 1.
PE 1: Evidence at protein level;
KW Chromosome; Developmental protein; DNA-binding; Nucleus; Paired box;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..289
FT /note="Paired box protein 5 homolog"
FT /id="PRO_0000456085"
FT DNA_BIND 29..155
FT /note="Paired"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 32..88
FT /note="PAI subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT REGION 107..155
FT /note="RED subdomain"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00381"
FT MUTAGEN 37
FT /note="G->S: In sy287; abnormal tail in males. Normal egg-
FT laying by hermaphrodites when grown at 15 degrees Celsius,
FT but defective at 25 degrees. Mostly normal morphology in
FT vulval cell vulF. Reduced expression of lin-48 in hindgut
FT cells. Reduces DNA binding ability in vitro."
FT /evidence="ECO:0000269|PubMed:10511553,
FT ECO:0000269|PubMed:11532910, ECO:0000269|PubMed:15923112"
FT MUTAGEN 57
FT /note="M->I: In gu22; abnormal tail in males. Almost normal
FT egg-laying by hermaphrodites. Mostly normal morphology in
FT vulval cell vulF. Reduced expression of lin-48 in hindgut
FT cells. Reduces DNA binding ability in vitro."
FT /evidence="ECO:0000269|PubMed:15923112"
FT MUTAGEN 61
FT /note="G->V: In sy294; abnormal tail in males, due to
FT variable cell lineage defects affecting the cells U, B and
FT F, which would normally develop into the posterior rectal
FT epithelium. Abnormal egg-laying by hermaphrodites. Mostly
FT normal morphology in vulval cell vulF. Abolishes expression
FT of lin-48 in hindgut cells, although expression in other
FT cell types is maintained. Reduces DNA binding ability in
FT vitro. Defects in excretory duct. Abolishes expression of
FT nlp-7. Significantly reduces expression of nlp-2."
FT /evidence="ECO:0000269|PubMed:11532910,
FT ECO:0000269|PubMed:15923112, ECO:0000269|PubMed:31398431,
FT ECO:0000269|PubMed:9374390"
FT MUTAGEN 97
FT /note="G->E: In n578; almost normal male tail. Abnormal
FT egg-laying by hermaphrodites, as a result of defects in the
FT vulva and the uterus, and their subsequent connection
FT during the larval L4 stage. Abnormal morphology in vulval
FT cell vulF. Fail to express lin-3 in the vulF cells in the
FT vulva and lacks uv1 cells in the uterus; absence of uvl
FT cells is suppressed in a let-23 mutant background.
FT Increased germline cell apoptosis. Almost normal expression
FT of lin-48 in hindgut cells. Reduces DNA binding ability in
FT vitro. Abolishes expression of nlp-7. Significantly reduces
FT expression of nlp-2."
FT /evidence="ECO:0000269|PubMed:11532910,
FT ECO:0000269|PubMed:15923112, ECO:0000269|PubMed:17020758,
FT ECO:0000269|PubMed:17021039, ECO:0000269|PubMed:31398431,
FT ECO:0000269|PubMed:9374390"
SQ SEQUENCE 289 AA; 31564 MW; 494D37C7AC16C234 CRC64;
MEPIWRNYPY PTYPGHHNFQ FDPLLSDGSH TGVNQLGGVF VNGRPLADTV RAQIVEMSQH
GTRPCDISRQ LKVSHGCVSK ILGRYYSTGS VRPGVIGGSK PKVATPRVVE CIAGYKRANP
TMFAWEIRQK LIEDQICGEE NVPSVSSINR IVRNKSFMAQ LAAPTSVTSS AARPSSATSH
HQRSPPRGVQ QHMQQSTSVQ QLQQLQLTSA ATVNSLMTPP AFAMPGTAYS INGLLGTLPQ
PSLLDDKFTN LSTQSADMSL VYSTGLVGEH DWTMRTPMVI LPQNYCGQL
