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Q5SQQ9

- VAX1_HUMAN

UniProt

Q5SQQ9 - VAX1_HUMAN

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Protein

Ventral anterior homeobox 1

Gene

VAX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

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 Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: Ensembl

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
Complete GO annotation...

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-KW
Complete GO annotation...

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.
GeneTreeiENSGT00760000119254.
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

        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
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.
GeneTreei ENSGT00760000119254.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 89 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