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Q6VMP0

- Q6VMP0_HUMAN

UniProt

Q6VMP0 - Q6VMP0_HUMAN

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Protein
Submitted name:

Mutant PAX6 protein

Gene

PAX6

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 5 out of 5- Protein predictedi

Functioni

GO - Molecular functioni

  1. AT DNA binding Source: Ensembl
  2. chromatin binding Source: Ensembl
  3. double-stranded DNA binding Source: Ensembl
  4. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  5. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
  6. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl

GO - Biological processi

  1. astrocyte differentiation Source: Ensembl
  2. axon guidance Source: Ensembl
  3. cell fate determination Source: Ensembl
  4. cerebral cortex regionalization Source: Ensembl
  5. commitment of neuronal cell to specific neuron type in forebrain Source: Ensembl
  6. dorsal/ventral axis specification Source: Ensembl
  7. embryonic camera-type eye morphogenesis Source: Ensembl
  8. eye photoreceptor cell development Source: Ensembl
  9. forebrain anterior/posterior pattern specification Source: Ensembl
  10. forebrain dorsal/ventral pattern formation Source: Ensembl
  11. forebrain-midbrain boundary formation Source: Ensembl
  12. hindbrain development Source: Ensembl
  13. keratinocyte differentiation Source: Ensembl
  14. lacrimal gland development Source: Ensembl
  15. lens development in camera-type eye Source: Ensembl
  16. negative regulation of epithelial cell proliferation Source: Ensembl
  17. negative regulation of neuron differentiation Source: Ensembl
  18. neuron migration Source: Ensembl
  19. oligodendrocyte cell fate specification Source: Ensembl
  20. pancreatic A cell development Source: Ensembl
  21. pituitary gland development Source: Ensembl
  22. positive regulation of cell fate specification Source: Ensembl
  23. positive regulation of epithelial cell differentiation Source: Ensembl
  24. positive regulation of neuroblast proliferation Source: Ensembl
  25. protein localization to organelle Source: Ensembl
  26. regulation of cell migration Source: Ensembl
  27. regulation of timing of cell differentiation Source: Ensembl
  28. regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment Source: Ensembl
  29. regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
  30. regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl
  31. retina development in camera-type eye Source: Ensembl
  32. salivary gland morphogenesis Source: Ensembl
  33. signal transduction involved in regulation of gene expression Source: Ensembl
  34. smoothened signaling pathway Source: Ensembl
  35. type B pancreatic cell differentiation Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental proteinUniRule annotation

Keywords - Biological processi

Transcription, Transcription regulationUniRule annotation

Keywords - Ligandi

DNA-bindingUniRule annotation

Names & Taxonomyi

Protein namesi
Submitted name:
Mutant PAX6 proteinImported
Gene namesi
Name:PAX6Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

Nucleus UniRule annotation

GO - Cellular componenti

  1. nuclear chromatin Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

NucleusUniRule annotation

PTM / Processingi

Proteomic databases

PRIDEiQ6VMP0.

Expressioni

Gene expression databases

BgeeiQ6VMP0.
ExpressionAtlasiQ6VMP0. baseline and differential.

Structurei

3D structure databases

ProteinModelPortaliQ6VMP0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 paired domain.UniRule annotation

Keywords - Domaini

Paired boxUniRule annotation

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Fragment.

Q6VMP0-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30
HSGVNQLGGV FVNGRPLPDS TRQKIVELAH SGARP
Length:35
Mass (Da):3,695
Last modified:July 5, 2004 - v1
Checksum:i15F1A90B672AA480
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei1 – 11Imported

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY337852 Genomic DNA. Translation: AAR10412.1.
UniGeneiHs.270303.
Hs.611376.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY337852 Genomic DNA. Translation: AAR10412.1 .
UniGenei Hs.270303.
Hs.611376.

3D structure databases

ProteinModelPortali Q6VMP0.
ModBasei Search...
MobiDBi Search...

Proteomic databases

PRIDEi Q6VMP0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Gene expression databases

Bgeei Q6VMP0.
ExpressionAtlasi Q6VMP0. baseline and differential.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
InterProi IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00292. PAX. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE.

Entry informationi

Entry nameiQ6VMP0_HUMAN
AccessioniPrimary (citable) accession number: Q6VMP0
Entry historyi
Integrated into UniProtKB/TrEMBL: July 5, 2004
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 68 of the entry and version 1 of the sequence. [Complete history]
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.