VAX1_MOUSE
ID VAX1_MOUSE Reviewed; 338 AA.
AC Q2NKI2; O88880;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Ventral anterior homeobox 1;
GN Name=Vax1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND DEVELOPMENTAL STAGE.
RC TISSUE=Brain;
RX PubMed=9636075; DOI=10.1242/dev.125.14.2599;
RA Hallonet M., Hollemann T., Wehr R., Jenkins N.A., Copeland N.G., Pieler T.,
RA Gruss P.;
RT "Vax1 is a novel homeobox-containing gene expressed in the developing
RT anterior ventral forebrain.";
RL Development 125:2599-2610(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), FUNCTION, AND DEVELOPMENTAL
RP STAGE.
RC STRAIN=BALB/cJ;
RX PubMed=10421837; DOI=10.1046/j.1365-2443.1999.00257.x;
RA Ohsaki K., Morimitsu T., Ishida Y., Kominami R., Takahashi N.;
RT "Expression of the Vax family homeobox genes suggests multiple roles in eye
RT development.";
RL Genes Cells 4:267-276(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-338 (ISOFORM 2).
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.
RX PubMed=10601035; DOI=10.1101/gad.13.23.3092;
RA Bertuzzi S., Hindges R., Mui S.H., O'Leary D.D., Lemke G.;
RT "The homeodomain protein vax1 is required for axon guidance and major tract
RT formation in the developing forebrain.";
RL Genes Dev. 13:3092-3105(1999).
RN [5]
RP FUNCTION.
RX PubMed=21856776; DOI=10.1101/gad.17227011;
RA Vacik T., Stubbs J.L., Lemke G.;
RT "A novel mechanism for the transcriptional regulation of Wnt signaling in
RT development.";
RL Genes Dev. 25:1783-1795(2011).
CC -!- FUNCTION: Transcription factor that may function in dorsoventral
CC specification of the forebrain. Required for axon guidance and major
CC tract formation in the developing forebrain. May contribute to the
CC differentiation of the neuroretina, pigmented epithelium and optic
CC stalk. {ECO:0000269|PubMed:10421837, ECO:0000269|PubMed:10601035,
CC ECO:0000269|PubMed:21856776, ECO:0000269|PubMed:9636075}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q2NKI2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2NKI2-2; Sequence=VSP_019397;
CC -!- DEVELOPMENTAL STAGE: At 9.5 dpc, expressed in the forebrain, through
CC the optic stalk and ending in the proximal portion of the optic
CC vesicle. At 10.5 dpc, expressed in the optic stalk, outer layer of the
CC optic cup, and the primordium of the pigment epithelium. In the pigment
CC epithelium, down-regulated after 11.5 dpc, and expression restricted to
CC the optic stalk and the ventral forebrain.
CC {ECO:0000269|PubMed:10421837, ECO:0000269|PubMed:9636075}.
CC -!- SIMILARITY: Belongs to the EMX homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI11819.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF064554; AAC36319.1; -; mRNA.
DR EMBL; AB020495; BAA76866.1; -; Genomic_DNA.
DR EMBL; BC111818; AAI11819.1; ALT_INIT; mRNA.
DR CCDS; CCDS29933.1; -. [Q2NKI2-1]
DR RefSeq; NP_033527.1; NM_009501.2. [Q2NKI2-1]
DR AlphaFoldDB; Q2NKI2; -.
DR SMR; Q2NKI2; -.
DR STRING; 10090.ENSMUSP00000134642; -.
DR iPTMnet; Q2NKI2; -.
DR PhosphoSitePlus; Q2NKI2; -.
DR MaxQB; Q2NKI2; -.
DR PaxDb; Q2NKI2; -.
DR PRIDE; Q2NKI2; -.
DR ProteomicsDB; 300114; -. [Q2NKI2-1]
DR ProteomicsDB; 300115; -. [Q2NKI2-2]
DR Antibodypedia; 32036; 188 antibodies from 27 providers.
DR DNASU; 22326; -.
DR Ensembl; ENSMUST00000172821; ENSMUSP00000134642; ENSMUSG00000006270. [Q2NKI2-1]
DR GeneID; 22326; -.
DR KEGG; mmu:22326; -.
DR UCSC; uc008ibg.1; mouse. [Q2NKI2-1]
DR CTD; 11023; -.
DR MGI; MGI:1277163; Vax1.
DR VEuPathDB; HostDB:ENSMUSG00000006270; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000161152; -.
DR HOGENOM; CLU_071850_0_0_1; -.
DR InParanoid; Q2NKI2; -.
DR OMA; SNPLTMA; -.
DR OrthoDB; 1094882at2759; -.
DR PhylomeDB; Q2NKI2; -.
DR TreeFam; TF319504; -.
DR BioGRID-ORCS; 22326; 3 hits in 74 CRISPR screens.
DR PRO; PR:Q2NKI2; -.
DR Proteomes; UP000000589; Chromosome 19.
DR RNAct; Q2NKI2; protein.
DR Bgee; ENSMUSG00000006270; Expressed in rostral migratory stream and 68 other tissues.
DR Genevisible; Q2NKI2; MM.
DR GO; GO:0005634; C:nucleus; IDA:MGI.
DR GO; GO:0031490; F:chromatin DNA binding; IDA:MGI.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IMP:MGI.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0001162; F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0048708; P:astrocyte differentiation; IMP:MGI.
DR GO; GO:0007411; P:axon guidance; IMP:MGI.
DR GO; GO:0007420; P:brain development; IMP:MGI.
DR GO; GO:0043010; P:camera-type eye development; IGI:MGI.
DR GO; GO:0007417; P:central nervous system development; IMP:MGI.
DR GO; GO:0007406; P:negative regulation of neuroblast proliferation; IMP:MGI.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0007399; P:nervous system development; IMP:MGI.
DR GO; GO:0007405; P:neuroblast proliferation; IMP:MGI.
DR GO; GO:0060563; P:neuroepithelial cell differentiation; IMP:MGI.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0001764; P:neuron migration; IMP:MGI.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060021; P:roof of mouth development; IMP:MGI.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IMP:MGI.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR000047; HTH_motif.
DR InterPro; IPR033020; Vax1.
DR PANTHER; PTHR24339:SF32; PTHR24339:SF32; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00031; HTHREPRESSR.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..338
FT /note="Ventral anterior homeobox 1"
FT /id="PRO_0000240523"
FT DNA_BIND 100..159
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..69
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 239..269
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 318..338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..34
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 54..69
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 212..338
FT /note="PSLPALGAGAAAGSAAAAAAAAAATAPGPAGAASQHQPAVGGAPGPGPAGPG
FT GLHAGAPTASHGLFSLPVPSLLGSVASRLSSAPLTMAGSLAGNLQELSARYLSSSAFEP
FT YSRTNNKEGAEKKALD -> RTARGSTDCQPRSLQPAGAVAARLCRQPPVLRPVDDGWF
FT ASREFARTLSPLPELLGLRALLPDQQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_019397"
SQ SEQUENCE 338 AA; 35167 MW; 072986819244BB81 CRC64;
MFGKPDKMDV RCHSDTEAAR VSKNAHKESR EIKGAEGSLP AAFLKEPQGA FSGSGASEDC
NKSKSNSSAD PDYCRRILVR DAKGSIREII LPKGLDLDRP KRTRTSFTAE QLYRLEMEFQ
RCQYVVGRER TELARQLNLS ETQVKVWFQN RRTKQKKDQG KDSELRSVVS ETAATCSVLR
LLEQGRLLSP PGLPALLPPC ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAAATAPGP
AGAASQHQPA VGGAPGPGPA GPGGLHAGAP TASHGLFSLP VPSLLGSVAS RLSSAPLTMA
GSLAGNLQEL SARYLSSSAF EPYSRTNNKE GAEKKALD
