UniProtKB - Q5SQQ9 (VAX1_HUMAN)
Protein
Ventral anterior homeobox 1
Gene
VAX1
Organism
Homo sapiens (Human)
Status
Functioni
Transcription factor that may function in dorsoventral specification of the forebrain. Required for axon guidance and major tract formation in the developing forebrain. May contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 100 – 159 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- chromatin DNA binding Source: Ensembl
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: GO_Central
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- axon guidance Source: Ensembl
- brain development Source: Ensembl
- camera-type eye development Source: Ensembl
- central nervous system development Source: GO_Central
- negative regulation of neuroblast proliferation Source: Ensembl
- neuron differentiation Source: GO_Central
- neuron migration Source: Ensembl
- regulation of transcription by RNA polymerase II Source: GO_Central
- roof of mouth development Source: Ensembl
- skeletal muscle cell differentiation Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q5SQQ9 |
Names & Taxonomyi
Protein namesi | Recommended name: Ventral anterior homeobox 1 |
Gene namesi | Name:VAX1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12660, VAX1 |
MIMi | 604294, gene |
neXtProti | NX_Q5SQQ9 |
VEuPathDBi | HostDB:ENSG00000148704.12 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Microphthalmia, syndromic, 11 (MCOPS11)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067307 | 152 | R → S in MCOPS11; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs387907252EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, MicrophthalmiaOrganism-specific databases
DisGeNETi | 11023 |
MalaCardsi | VAX1 |
MIMi | 614402, phenotype |
OpenTargetsi | ENSG00000148704 |
PharmGKBi | PA37283 |
Miscellaneous databases
Pharosi | Q5SQQ9, Tbio |
Genetic variation databases
BioMutai | VAX1 |
DMDMi | 74743553 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000240522 | 1 – 334 | Ventral anterior homeobox 1Add BLAST | 334 |
Proteomic databases
MassIVEi | Q5SQQ9 |
PaxDbi | Q5SQQ9 |
PeptideAtlasi | Q5SQQ9 |
PRIDEi | Q5SQQ9 |
ProteomicsDBi | 63817 [Q5SQQ9-1] 63818 [Q5SQQ9-2] |
PTM databases
iPTMneti | Q5SQQ9 |
PhosphoSitePlusi | Q5SQQ9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000148704, Expressed in putamen and 32 other tissues |
Organism-specific databases
HPAi | ENSG00000148704, Tissue enriched (brain) |
Interactioni
Binary interactionsi
Hide detailsIsoform 2 [Q5SQQ9-2]
Protein-protein interaction databases
BioGRIDi | 116213, 15 interactors |
IntActi | Q5SQQ9, 15 interactors |
STRINGi | 9606.ENSP00000358207 |
Miscellaneous databases
RNActi | Q5SQQ9, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 216 – 268 | Ala-richAdd BLAST | 53 |
Sequence similaritiesi
Belongs to the EMX homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0843, Eukaryota |
GeneTreei | ENSGT00940000161152 |
HOGENOMi | CLU_125032_0_0_1 |
InParanoidi | Q5SQQ9 |
OMAi | SNPLTMA |
OrthoDBi | 1094882at2759 |
PhylomeDBi | Q5SQQ9 |
TreeFami | TF319504 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR000047, HTH_motif IPR033020, Vax1 |
PANTHERi | PTHR24339:SF32, PTHR24339:SF32, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00031, HTHREPRESSR |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q5SQQ9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MFGKPDKMDV RCHSDAEAAR VSKNAHKESR ESKGAEGNLP AAFLKEPQGA
60 70 80 90 100
FSASGAAEDC NKSKSNSAAD PDYCRRILVR DAKGSIREII LPKGLDLDRP
110 120 130 140 150
KRTRTSFTAE QLYRLEMEFQ RCQYVVGRER TELARQLNLS ETQVKVWFQN
160 170 180 190 200
RRTKQKKDQG KDSELRSVVS ETAATCSVLR LLEQGRLLSP PGLPALLPPC
210 220 230 240 250
ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAPGPAGAA SPHPPAVGGA
260 270 280 290 300
PGPGPAGPGG LHAGAPAAGH SLFSLPVPSL LGSVASRLSS APLTMAGSLA
310 320 330
GNLQELSARY LSSSAFEPYS RTNNKEGAEK KALD
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067307 | 152 | R → S in MCOPS11; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs387907252EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_019396 | 144 – 334 | VKVWF…KKALD → ANSEENNERFKRGIKKQKKK RKKEPANDESRRGDSGGRGW QPL in isoform 2. 2 PublicationsAdd BLAST | 191 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK127095 mRNA Translation: BAC86826.1 CH471066 Genomic DNA Translation: EAW49433.1 BC101694 mRNA Translation: AAI01695.1 BC101696 mRNA Translation: AAI01697.1 AL731557 Genomic DNA No translation available. |
CCDSi | CCDS44483.1 [Q5SQQ9-1] CCDS7597.1 [Q5SQQ9-2] |
RefSeqi | NP_001106175.1, NM_001112704.1 [Q5SQQ9-1] NP_954582.1, NM_199131.2 [Q5SQQ9-2] |
Genome annotation databases
Ensembli | ENST00000277905; ENSP00000277905; ENSG00000148704 [Q5SQQ9-2] ENST00000369206; ENSP00000358207; ENSG00000148704 [Q5SQQ9-1] |
GeneIDi | 11023 |
KEGGi | hsa:11023 |
UCSCi | uc001ldb.1, human [Q5SQQ9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK127095 mRNA Translation: BAC86826.1 CH471066 Genomic DNA Translation: EAW49433.1 BC101694 mRNA Translation: AAI01695.1 BC101696 mRNA Translation: AAI01697.1 AL731557 Genomic DNA No translation available. |
CCDSi | CCDS44483.1 [Q5SQQ9-1] CCDS7597.1 [Q5SQQ9-2] |
RefSeqi | NP_001106175.1, NM_001112704.1 [Q5SQQ9-1] NP_954582.1, NM_199131.2 [Q5SQQ9-2] |
3D structure databases
SMRi | Q5SQQ9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116213, 15 interactors |
IntActi | Q5SQQ9, 15 interactors |
STRINGi | 9606.ENSP00000358207 |
PTM databases
iPTMneti | Q5SQQ9 |
PhosphoSitePlusi | Q5SQQ9 |
Genetic variation databases
BioMutai | VAX1 |
DMDMi | 74743553 |
Proteomic databases
MassIVEi | Q5SQQ9 |
PaxDbi | Q5SQQ9 |
PeptideAtlasi | Q5SQQ9 |
PRIDEi | Q5SQQ9 |
ProteomicsDBi | 63817 [Q5SQQ9-1] 63818 [Q5SQQ9-2] |
Protocols and materials databases
Antibodypediai | 32036, 164 antibodies |
DNASUi | 11023 |
Genome annotation databases
Ensembli | ENST00000277905; ENSP00000277905; ENSG00000148704 [Q5SQQ9-2] ENST00000369206; ENSP00000358207; ENSG00000148704 [Q5SQQ9-1] |
GeneIDi | 11023 |
KEGGi | hsa:11023 |
UCSCi | uc001ldb.1, human [Q5SQQ9-1] |
Organism-specific databases
CTDi | 11023 |
DisGeNETi | 11023 |
GeneCardsi | VAX1 |
HGNCi | HGNC:12660, VAX1 |
HPAi | ENSG00000148704, Tissue enriched (brain) |
MalaCardsi | VAX1 |
MIMi | 604294, gene 614402, phenotype |
neXtProti | NX_Q5SQQ9 |
OpenTargetsi | ENSG00000148704 |
PharmGKBi | PA37283 |
VEuPathDBi | HostDB:ENSG00000148704.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0843, Eukaryota |
GeneTreei | ENSGT00940000161152 |
HOGENOMi | CLU_125032_0_0_1 |
InParanoidi | Q5SQQ9 |
OMAi | SNPLTMA |
OrthoDBi | 1094882at2759 |
PhylomeDBi | Q5SQQ9 |
TreeFami | TF319504 |
Enzyme and pathway databases
PathwayCommonsi | Q5SQQ9 |
Miscellaneous databases
BioGRID-ORCSi | 11023, 4 hits in 896 CRISPR screens |
GeneWikii | VAX1 |
GenomeRNAii | 11023 |
Pharosi | Q5SQQ9, Tbio |
PROi | PR:Q5SQQ9 |
RNActi | Q5SQQ9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148704, Expressed in putamen and 32 other tissues |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR000047, HTH_motif IPR033020, Vax1 |
PANTHERi | PTHR24339:SF32, PTHR24339:SF32, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00031, HTHREPRESSR |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VAX1_HUMAN | |
Accessioni | Q5SQQ9Primary (citable) accession number: Q5SQQ9 Secondary accession number(s): B1AVW5, Q6ZSX0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | December 21, 2004 | |
Last modified: | February 10, 2021 | |
This is version 137 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families