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Q5SQQ9

- VAX1_HUMAN

UniProt

Q5SQQ9 - VAX1_HUMAN

Protein

Ventral anterior homeobox 1

Gene

VAX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (21 Dec 2004)
      Previous versions | rss
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    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 keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi100 – 15960HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin DNA binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: Ensembl
    3. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. brain development Source: Ensembl
    3. camera-type eye development Source: Ensembl
    4. negative regulation of neuroblast proliferation Source: Ensembl
    5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    6. neuron migration Source: Ensembl
    7. palate development Source: Ensembl
    8. skeletal muscle cell differentiation Source: Ensembl
    9. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ventral anterior homeobox 1
    Gene namesi
    Name:VAX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:12660. VAX1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Microphthalmia, syndromic, 11 (MCOPS11) [MIM:614402]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521R → S in MCOPS11; loss of function mutation. 1 Publication
    VAR_067307

    Keywords - Diseasei

    Disease mutation, Microphthalmia

    Organism-specific databases

    MIMi614402. phenotype.
    PharmGKBiPA37283.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 334334Ventral anterior homeobox 1PRO_0000240522Add
    BLAST

    Proteomic databases

    PaxDbiQ5SQQ9.
    PRIDEiQ5SQQ9.

    PTM databases

    PhosphoSiteiQ5SQQ9.

    Expressioni

    Gene expression databases

    BgeeiQ5SQQ9.
    CleanExiHS_VAX1.
    GenevestigatoriQ5SQQ9.

    Organism-specific databases

    HPAiHPA028946.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000358207.

    Structurei

    3D structure databases

    ProteinModelPortaliQ5SQQ9.
    SMRiQ5SQQ9. Positions 102-157.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi216 – 26853Ala-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the EMX homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG323848.
    HOGENOMiHOG000049217.
    HOVERGENiHBG007558.
    InParanoidiQ5SQQ9.
    KOiK09318.
    OMAiSISTFDK.
    OrthoDBiEOG71ZP35.
    PhylomeDBiQ5SQQ9.
    TreeFamiTF319504.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00031. HTHREPRESSR.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q5SQQ9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MFGKPDKMDV RCHSDAEAAR VSKNAHKESR ESKGAEGNLP AAFLKEPQGA    50
    FSASGAAEDC NKSKSNSAAD PDYCRRILVR DAKGSIREII LPKGLDLDRP 100
    KRTRTSFTAE QLYRLEMEFQ RCQYVVGRER TELARQLNLS ETQVKVWFQN 150
    RRTKQKKDQG KDSELRSVVS ETAATCSVLR LLEQGRLLSP PGLPALLPPC 200
    ATGALGSALR GPSLPALGAG AAAGSAAAAA AAAPGPAGAA SPHPPAVGGA 250
    PGPGPAGPGG LHAGAPAAGH SLFSLPVPSL LGSVASRLSS APLTMAGSLA 300
    GNLQELSARY LSSSAFEPYS RTNNKEGAEK KALD 334
    Length:334
    Mass (Da):34,713
    Last modified:December 21, 2004 - v1
    Checksum:i927FCADCFE937C12
    GO
    Isoform 2 (identifier: Q5SQQ9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         144-334: VKVWFQNRRT...KEGAEKKALD → ANSEENNERF...DSGGRGWQPL

    Show »
    Length:186
    Mass (Da):21,044
    Checksum:i71D7F3F0256F2B72
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti152 – 1521R → S in MCOPS11; loss of function mutation. 1 Publication
    VAR_067307

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei144 – 334191VKVWF…KKALD → ANSEENNERFKRGIKKQKKK RKKEPANDESRRGDSGGRGW QPL in isoform 2. 2 PublicationsVSP_019396Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI14824.1.
    AL731557 Genomic DNA. Translation: CAI14825.1.
    CCDSiCCDS44483.1. [Q5SQQ9-1]
    CCDS7597.1. [Q5SQQ9-2]
    RefSeqiNP_001106175.1. NM_001112704.1. [Q5SQQ9-1]
    NP_954582.1. NM_199131.2. [Q5SQQ9-2]
    UniGeneiHs.441536.

    Genome annotation databases

    EnsembliENST00000277905; ENSP00000277905; ENSG00000148704. [Q5SQQ9-2]
    ENST00000369206; ENSP00000358207; ENSG00000148704. [Q5SQQ9-1]
    GeneIDi11023.
    KEGGihsa:11023.
    UCSCiuc001ldb.1. human. [Q5SQQ9-2]
    uc009xyx.3. human. [Q5SQQ9-1]

    Polymorphism databases

    DMDMi74743553.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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. Translation: CAI14824.1 .
    AL731557 Genomic DNA. Translation: CAI14825.1 .
    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 ]
    UniGenei Hs.441536.

    3D structure databases

    ProteinModelPortali Q5SQQ9.
    SMRi Q5SQQ9. Positions 102-157.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000358207.

    PTM databases

    PhosphoSitei Q5SQQ9.

    Polymorphism databases

    DMDMi 74743553.

    Proteomic databases

    PaxDbi Q5SQQ9.
    PRIDEi Q5SQQ9.

    Protocols and materials databases

    DNASUi 11023.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000277905 ; ENSP00000277905 ; ENSG00000148704 . [Q5SQQ9-2 ]
    ENST00000369206 ; ENSP00000358207 ; ENSG00000148704 . [Q5SQQ9-1 ]
    GeneIDi 11023.
    KEGGi hsa:11023.
    UCSCi uc001ldb.1. human. [Q5SQQ9-2 ]
    uc009xyx.3. human. [Q5SQQ9-1 ]

    Organism-specific databases

    CTDi 11023.
    GeneCardsi GC10M118878.
    GeneReviewsi VAX1.
    HGNCi HGNC:12660. VAX1.
    HPAi HPA028946.
    MIMi 604294. gene.
    614402. phenotype.
    neXtProti NX_Q5SQQ9.
    PharmGKBi PA37283.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG323848.
    HOGENOMi HOG000049217.
    HOVERGENi HBG007558.
    InParanoidi Q5SQQ9.
    KOi K09318.
    OMAi SISTFDK.
    OrthoDBi EOG71ZP35.
    PhylomeDBi Q5SQQ9.
    TreeFami TF319504.

    Miscellaneous databases

    GeneWikii VAX1.
    GenomeRNAii 11023.
    NextBioi 41888.
    PROi Q5SQQ9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q5SQQ9.
    CleanExi HS_VAX1.
    Genevestigatori Q5SQQ9.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00031. HTHREPRESSR.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM 1).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    5. "VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans."
      Slavotinek A.M., Chao R., Vacik T., Yahyavi M., Abouzeid H., Bardakjian T., Schneider A., Shaw G., Sherr E.H., Lemke G., Youssef M., Schorderet D.F.
      Hum. Mutat. 33:364-368(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MCOPS11 SER-152, CHARACTERIZATION OF VARIANT MCOPS11 SER-152.

    Entry informationi

    Entry nameiVAX1_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 88 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3