FAX1_CAEEL
ID FAX1_CAEEL Reviewed; 419 AA.
AC G5EDJ0; J7S155;
DT 02-JUN-2021, integrated into UniProtKB/Swiss-Prot.
DT 14-DEC-2011, sequence version 1.
DT 03-AUG-2022, entry version 99.
DE RecName: Full=Nuclear hormone receptor family member fax-1 {ECO:0000305};
GN Name=fax-1 {ECO:0000312|WormBase:F56E3.4a};
GN ORFNames=F56E3.4 {ECO:0000312|WormBase:F56E3.4a};
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:AAD55066.1}
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, DEVELOPMENTAL
RP STAGE, AND MUTAGENESIS OF 128-ARG--ILE-419.
RC STRAIN=Bristol N2 {ECO:0000312|EMBL:AAD55066.1};
RX PubMed=10648229; DOI=10.1242/dev.127.4.703;
RA Much J.W., Slade D.J., Klampert K., Garriga G., Wightman B.;
RT "The fax-1 nuclear hormone receptor regulates axon pathfinding and
RT neurotransmitter expression.";
RL Development 127:703-712(2000).
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 128-ARG--ILE-419.
RX PubMed=9216999; DOI=10.1242/dev.124.13.2571;
RA Wightman B., Baran R., Garriga G.;
RT "Genes that guide growth cones along the C. elegans ventral nerve cord.";
RL Development 124:2571-2580(1997).
RN [4] {ECO:0000305}
RP FUNCTION, SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE, AND MUTAGENESIS OF
RP 128-ARG--ILE-419.
RX PubMed=16183052; DOI=10.1016/j.ydbio.2005.08.032;
RA Wightman B., Ebert B., Carmean N., Weber K., Clever S.;
RT "The C. elegans nuclear receptor gene fax-1 and homeobox gene unc-42
RT coordinate interneuron identity by regulating the expression of glutamate
RT receptor subunits and other neuron-specific genes.";
RL Dev. Biol. 287:74-85(2005).
RN [5] {ECO:0000305}
RP FUNCTION.
RX PubMed=18179707; DOI=10.1186/1471-2199-9-2;
RA DeMeo S.D., Lombel R.M., Cronin M., Smith E.L., Snowflack D.R., Reinert K.,
RA Clever S., Wightman B.;
RT "Specificity of DNA-binding by the FAX-1 and NHR-67 nuclear receptors of
RT Caenorhabditis elegans is partially mediated via a subclass-specific P-box
RT residue.";
RL BMC Mol. Biol. 9:2-2(2008).
RN [6] {ECO:0000305}
RP FUNCTION, DOMAIN, AND MUTAGENESIS OF 128-ARG--ILE-419.
RX PubMed=22690911; DOI=10.1186/1471-2148-12-81;
RA Weber K.P., Alvaro C.G., Baer G.M., Reinert K., Cheng G., Clever S.,
RA Wightman B.;
RT "Analysis of C. elegans NR2E nuclear receptors defines three conserved
RT clades and ligand-independent functions.";
RL BMC Evol. Biol. 12:81-81(2012).
CC -!- FUNCTION: Orphan nuclear receptor that binds DNA containing an extended
CC core motif half-site sequence 5'-ANGTCA-3' (PubMed:10648229,
CC PubMed:18179707). Required for locomotion, neuron axon pathfinding, and
CC regulation of expression of some peptide neurotransmitter precursors
CC and of NMDA glutamate receptor genes (PubMed:10648229, PubMed:16183052,
CC PubMed:9216999, PubMed:22690911). Involved in specifying interneuron
CC identity, in concert with paired-like homeodomain unc-42
CC (PubMed:16183052). Plays a role in recognition of the PVPR and PVQL
CC axons by the AVKR and HSNL growth cones (PubMed:9216999).
CC {ECO:0000269|PubMed:10648229, ECO:0000269|PubMed:16183052,
CC ECO:0000269|PubMed:18179707, ECO:0000269|PubMed:22690911,
CC ECO:0000269|PubMed:9216999}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10648229,
CC ECO:0000269|PubMed:16183052}. Cell projection, axon
CC {ECO:0000269|PubMed:10648229}. Cytoplasm {ECO:0000269|PubMed:10648229}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=a {ECO:0000312|WormBase:F56E3.4a};
CC IsoId=G5EDJ0-1; Sequence=Displayed;
CC Name=b {ECO:0000312|WormBase:F56E3.4b};
CC IsoId=G5EDJ0-2; Sequence=VSP_061076, VSP_061077;
CC -!- DEVELOPMENTAL STAGE: Expressed in embryonic and postembryonic neurons,
CC including AVKR and AVKL interneurons (at protein level)
CC (PubMed:10648229, PubMed:16183052). Expressed in the AVA, AVB, and AVE
CC bilateral interneuron pairs, the RIC bilaterally-paired interneurons,
CC SIBD and either SIBV or SMBV neuron pairs, M4 motorneuron, and the
CC unpaired DVA interneuron (at protein level) (PubMed:16183052).
CC Expressed dynamically in two non-neuronal cell types during larval
CC development, paired distal tip cells (DTCs) of the hermaphrodite
CC somatic gonad of L2 through L4 stage larvae and two pairs of vulval
CC cells in L4 hermaphrodite larvae (at protein level) (PubMed:16183052).
CC Expressed in the pairs of CEPD and URX sensory neurons, three
CC pharyngeal neurons (M1, MI and probably M5), two pairs of ring
CC interneurons (including the RIC pair), five neurons in the
CC retrovesicular ganglion (including SABD and the pair of SABV neurons),
CC a single neuron in the preanal ganglion and a single neuron in the
CC dorsorectal ganglion of the tail (PubMed:10648229). Not expressed in
CC either of the HSN or PVQ neurons, or in the PVPR neuron at any stage of
CC development (PubMed:10648229). {ECO:0000269|PubMed:10648229,
CC ECO:0000269|PubMed:16183052}.
CC -!- DOMAIN: Putative ligand binding domain (NR LBD) may be dispensable for
CC import into nuclei and in the development of neurons that control
CC movement. {ECO:0000269|PubMed:22690911}.
CC -!- SIMILARITY: Belongs to the nuclear hormone receptor family.
CC {ECO:0000305}.
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DR EMBL; AF176087; AAD55066.1; -; mRNA.
DR EMBL; BX284606; CCD64596.1; -; Genomic_DNA.
DR EMBL; BX284606; CCM09421.1; -; Genomic_DNA.
DR RefSeq; NP_001263953.1; NM_001277024.1. [G5EDJ0-2]
DR RefSeq; NP_508547.1; NM_076146.3. [G5EDJ0-1]
DR AlphaFoldDB; G5EDJ0; -.
DR SMR; G5EDJ0; -.
DR IntAct; G5EDJ0; 1.
DR STRING; 6239.F56E3.4a; -.
DR PaxDb; G5EDJ0; -.
DR EnsemblMetazoa; F56E3.4a.1; F56E3.4a.1; WBGene00001400. [G5EDJ0-1]
DR EnsemblMetazoa; F56E3.4b.1; F56E3.4b.1; WBGene00001400. [G5EDJ0-2]
DR GeneID; 180609; -.
DR KEGG; cel:CELE_F56E3.4; -.
DR CTD; 180609; -.
DR WormBase; F56E3.4a; CE28464; WBGene00001400; fax-1.
DR WormBase; F56E3.4b; CE04670; WBGene00001400; fax-1.
DR eggNOG; KOG3575; Eukaryota.
DR GeneTree; ENSGT00940000156926; -.
DR HOGENOM; CLU_007368_9_0_1; -.
DR InParanoid; G5EDJ0; -.
DR OMA; CICLLQQ; -.
DR OrthoDB; 950771at2759; -.
DR PhylomeDB; G5EDJ0; -.
DR Proteomes; UP000001940; Chromosome X.
DR Bgee; WBGene00001400; Expressed in pharyngeal muscle cell (C elegans) and 3 other tissues.
DR ExpressionAtlas; G5EDJ0; baseline and differential.
DR GO; GO:0030424; C:axon; IEA:UniProtKB-SubCell.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IDA:WormBase.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:WormBase.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IMP:UniProtKB.
DR GO; GO:0004879; F:nuclear receptor activity; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:WormBase.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR GO; GO:0007411; P:axon guidance; IMP:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0007626; P:locomotory behavior; IMP:WormBase.
DR GO; GO:0048665; P:neuron fate specification; IMP:WormBase.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:WormBase.
DR GO; GO:0043058; P:regulation of backward locomotion; IMP:WormBase.
DR GO; GO:0043059; P:regulation of forward locomotion; IMP:WormBase.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IMP:UniProtKB.
DR Gene3D; 1.10.565.10; -; 1.
DR Gene3D; 3.30.50.10; -; 1.
DR InterPro; IPR035500; NHR-like_dom_sf.
DR InterPro; IPR001628; Znf_hrmn_rcpt.
DR InterPro; IPR013088; Znf_NHR/GATA.
DR Pfam; PF00105; zf-C4; 1.
DR PRINTS; PR00047; STROIDFINGER.
DR SMART; SM00399; ZnF_C4; 1.
DR SUPFAM; SSF48508; SSF48508; 1.
DR PROSITE; PS00031; NUCLEAR_REC_DBD_1; 1.
DR PROSITE; PS51030; NUCLEAR_REC_DBD_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cytoplasm; DNA-binding;
KW Metal-binding; Nucleus; Receptor; Reference proteome; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..419
FT /note="Nuclear hormone receptor family member fax-1"
FT /id="PRO_0000452986"
FT DOMAIN 205..419
FT /note="NR LBD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01189"
FT DNA_BIND 99..175
FT /note="Nuclear receptor"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT ZN_FING 102..122
FT /note="NR C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT ZN_FING 138..158
FT /note="NR C4-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00407"
FT REGION 211..238
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 220..238
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 323..390
FT /note="RELSLWRAGWDNRASIITVYPAGERGARLVAAALLLAEHSVMGFGNCVIPLA
FT LVFSTKSRYVIQRHAI -> PTEDSQYQFEEQLDQCICLLQQCCLKLDSSPSRFGKLLL
FT LLAEIQFYPTSYLESLLDTKISQLVSRFL (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_061076"
FT VAR_SEQ 391..419
FT /note="Missing (in isoform b)"
FT /evidence="ECO:0000305"
FT /id="VSP_061077"
FT MUTAGEN 128..419
FT /note="Missing: In gm83; defect in the coordination of
FT locomotion. Defects in pathfinding by AVKR and AVKL
FT interneuron axons, and PVQL and HSNL axons, and reduced
FT FMRFamide immunoreactivity."
FT /evidence="ECO:0000269|PubMed:10648229,
FT ECO:0000269|PubMed:16183052, ECO:0000269|PubMed:22690911,
FT ECO:0000269|PubMed:9216999"
SQ SEQUENCE 419 AA; 46176 MW; 63EC323EDE02BABA CRC64;
MSDEDEPLNF STSKATEESK EGILGVRSIF NTPLLFPPPM FNAGVISPHI AAALAMSFNQ
QRMNASVSPP LDHTTISVNS FPSMGSVKTD SPPTASSPTL CCAVCGDVSS GKHYGILACN
GCSGFFKRSV RRRLIYRCQA GTGNCVVDKA HRNQCQACRL KKCLNKGMNK DAVQNERQPR
NTATIRPALD MDPQNFFREY AGAVSAIMGH SNMMKREDSP SSASDGKTED EKKDSLQETT
MSQLESVLQW AQQFRLFTVL TNSEKRQIIL TQWPRLLCIS LCEQAEDVSF DDHLTSLMLK
FRRLDVSPAE FNCLKAITIF MKRELSLWRA GWDNRASIIT VYPAGERGAR LVAAALLLAE
HSVMGFGNCV IPLALVFSTK SRYVIQRHAI NSLPACVPGG TSAHPVLRCS MGSRREKVI
