VAX1_HUMAN
ID VAX1_HUMAN Reviewed; 334 AA.
AC Q5SQQ9; B1AVW5; Q6ZSX0;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Ventral anterior homeobox 1;
GN Name=VAX1;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 1).
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
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 [5]
RP VARIANT MCOPS11 SER-152, AND CHARACTERIZATION OF VARIANT MCOPS11 SER-152.
RX PubMed=22095910; DOI=10.1002/humu.21658;
RA Slavotinek A.M., Chao R., Vacik T., Yahyavi M., Abouzeid H., Bardakjian T.,
RA Schneider A., Shaw G., Sherr E.H., Lemke G., Youssef M., Schorderet D.F.;
RT "VAX1 mutation associated with microphthalmia, corpus callosum agenesis,
RT and orofacial clefting: The first description of a VAX1 phenotype in
RT humans.";
RL Hum. Mutat. 33:364-368(2012).
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 (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q5SQQ9-2; Q92997: DVL3; NbExp=3; IntAct=EBI-12227803, EBI-739789;
CC Q5SQQ9-2; Q96JC9: EAF1; NbExp=3; IntAct=EBI-12227803, EBI-769261;
CC Q5SQQ9-2; P62508-3: ESRRG; NbExp=3; IntAct=EBI-12227803, EBI-12001340;
CC Q5SQQ9-2; Q76N89: HECW1; NbExp=3; IntAct=EBI-12227803, EBI-949582;
CC Q5SQQ9-2; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-12227803, EBI-2549423;
CC Q5SQQ9-2; P42568: MLLT3; NbExp=3; IntAct=EBI-12227803, EBI-716132;
CC Q5SQQ9-2; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-12227803, EBI-79165;
CC Q5SQQ9-2; Q9BUI4: POLR3C; NbExp=3; IntAct=EBI-12227803, EBI-5452779;
CC Q5SQQ9-2; P20618: PSMB1; NbExp=3; IntAct=EBI-12227803, EBI-372273;
CC Q5SQQ9-2; Q9P2K3-2: RCOR3; NbExp=3; IntAct=EBI-12227803, EBI-1504830;
CC Q5SQQ9-2; Q9NQG5: RPRD1B; NbExp=3; IntAct=EBI-12227803, EBI-747925;
CC Q5SQQ9-2; Q9H190: SDCBP2; NbExp=3; IntAct=EBI-12227803, EBI-742426;
CC Q5SQQ9-2; Q5MJ10: SPANXN2; NbExp=3; IntAct=EBI-12227803, EBI-12023934;
CC Q5SQQ9-2; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-12227803, EBI-14096082;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5SQQ9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SQQ9-2; Sequence=VSP_019396;
CC -!- DISEASE: Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402]: A rare
CC clinical entity including as main characteristics microphthalmia and
CC small optic nerves, cleft lip and palate, absence of corpus callosum,
CC hippocampal malformations, and absence of the pineal gland.
CC Microphthalmia is a disorder of eye formation, ranging from small size
CC of a single eye to complete bilateral absence of ocular tissues
CC (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in
CC association with syndromes that include non-ocular abnormalities.
CC {ECO:0000269|PubMed:22095910}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the EMX homeobox family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK127095; BAC86826.1; -; mRNA.
DR EMBL; CH471066; EAW49433.1; -; Genomic_DNA.
DR EMBL; BC101694; AAI01695.1; -; mRNA.
DR EMBL; BC101696; AAI01697.1; -; mRNA.
DR EMBL; AL731557; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS44483.1; -. [Q5SQQ9-1]
DR CCDS; CCDS7597.1; -. [Q5SQQ9-2]
DR RefSeq; NP_001106175.1; NM_001112704.1. [Q5SQQ9-1]
DR RefSeq; NP_954582.1; NM_199131.2. [Q5SQQ9-2]
DR AlphaFoldDB; Q5SQQ9; -.
DR SMR; Q5SQQ9; -.
DR BioGRID; 116213; 15.
DR IntAct; Q5SQQ9; 15.
DR STRING; 9606.ENSP00000358207; -.
DR iPTMnet; Q5SQQ9; -.
DR PhosphoSitePlus; Q5SQQ9; -.
DR BioMuta; VAX1; -.
DR DMDM; 74743553; -.
DR MassIVE; Q5SQQ9; -.
DR MaxQB; Q5SQQ9; -.
DR PaxDb; Q5SQQ9; -.
DR PeptideAtlas; Q5SQQ9; -.
DR PRIDE; Q5SQQ9; -.
DR ProteomicsDB; 63817; -. [Q5SQQ9-1]
DR ProteomicsDB; 63818; -. [Q5SQQ9-2]
DR Antibodypedia; 32036; 188 antibodies from 27 providers.
DR DNASU; 11023; -.
DR Ensembl; ENST00000277905.6; ENSP00000277905.2; ENSG00000148704.13. [Q5SQQ9-2]
DR Ensembl; ENST00000369206.6; ENSP00000358207.4; ENSG00000148704.13. [Q5SQQ9-1]
DR GeneID; 11023; -.
DR KEGG; hsa:11023; -.
DR MANE-Select; ENST00000369206.6; ENSP00000358207.4; NM_001112704.2; NP_001106175.1.
DR UCSC; uc001ldb.1; human. [Q5SQQ9-1]
DR CTD; 11023; -.
DR DisGeNET; 11023; -.
DR GeneCards; VAX1; -.
DR HGNC; HGNC:12660; VAX1.
DR HPA; ENSG00000148704; Tissue enriched (brain).
DR MalaCards; VAX1; -.
DR MIM; 604294; gene.
DR MIM; 614402; phenotype.
DR neXtProt; NX_Q5SQQ9; -.
DR OpenTargets; ENSG00000148704; -.
DR PharmGKB; PA37283; -.
DR VEuPathDB; HostDB:ENSG00000148704; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000161152; -.
DR HOGENOM; CLU_125032_0_0_1; -.
DR InParanoid; Q5SQQ9; -.
DR OMA; SNPLTMA; -.
DR OrthoDB; 1094882at2759; -.
DR PhylomeDB; Q5SQQ9; -.
DR TreeFam; TF319504; -.
DR PathwayCommons; Q5SQQ9; -.
DR SignaLink; Q5SQQ9; -.
DR BioGRID-ORCS; 11023; 8 hits in 1089 CRISPR screens.
DR GeneWiki; VAX1; -.
DR GenomeRNAi; 11023; -.
DR Pharos; Q5SQQ9; Tbio.
DR PRO; PR:Q5SQQ9; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5SQQ9; protein.
DR Bgee; ENSG00000148704; Expressed in caudate nucleus and 27 other tissues.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0031490; F:chromatin DNA binding; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
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; IEA:Ensembl.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0048708; P:astrocyte differentiation; IEA:Ensembl.
DR GO; GO:0007411; P:axon guidance; IEA:Ensembl.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
DR GO; GO:0043010; P:camera-type eye development; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0007406; P:negative regulation of neuroblast proliferation; IEA:Ensembl.
DR GO; GO:0007405; P:neuroblast proliferation; IEA:Ensembl.
DR GO; GO:0060563; P:neuroepithelial cell differentiation; IEA:Ensembl.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0001764; P:neuron migration; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
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 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Disease variant; DNA-binding;
KW Homeobox; Microphthalmia; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..334
FT /note="Ventral anterior homeobox 1"
FT /id="PRO_0000240522"
FT DNA_BIND 100..159
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..41
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 234..263
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 314..334
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 238..252
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 144..334
FT /note="VKVWFQNRRTKQKKDQGKDSELRSVVSETAATCSVLRLLEQGRLLSPPGLPA
FT LLPPCATGALGSALRGPSLPALGAGAAAGSAAAAAAAAPGPAGAASPHPPAVGGAPGPG
FT PAGPGGLHAGAPAAGHSLFSLPVPSLLGSVASRLSSAPLTMAGSLAGNLQELSARYLSS
FT SAFEPYSRTNNKEGAEKKALD -> ANSEENNERFKRGIKKQKKKRKKEPANDESRRGD
FT SGGRGWQPL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_019396"
FT VARIANT 152
FT /note="R -> S (in MCOPS11; loss of function mutation;
FT dbSNP:rs387907252)"
FT /evidence="ECO:0000269|PubMed:22095910"
FT /id="VAR_067307"
SQ SEQUENCE 334 AA; 34713 MW; 927FCADCFE937C12 CRC64;
MFGKPDKMDV RCHSDAEAAR VSKNAHKESR ESKGAEGNLP AAFLKEPQGA FSASGAAEDC
NKSKSNSAAD PDYCRRILVR DAKGSIREII LPKGLDLDRP KRTRTSFTAE QLYRLEMEFQ
RCQYVVGRER TELARQLNLS ETQVKVWFQN RRTKQKKDQG KDSELRSVVS ETAATCSVLR
LLEQGRLLSP PGLPALLPPC ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAPGPAGAA
SPHPPAVGGA PGPGPAGPGG LHAGAPAAGH SLFSLPVPSL LGSVASRLSS APLTMAGSLA
GNLQELSARY LSSSAFEPYS RTNNKEGAEK KALD
