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Pura Gene Detail
Summary
  • Symbol
    Pura
  • Name
    purine rich element binding protein A
  • Synonyms
    CAGER-1, Pur alpha, Pur-alpha, ssCRE-BP
  • Feature Type
    protein coding gene
  • IDs
    MGI:103079
    NCBI Gene: 19290
Location & Maps
more
  • Sequence Map
    Chr18:36281097-36301521 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20425 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PURA, purine-rich element binding protein A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PURA, purine-rich element binding protein A
    Orthology source: HomoloGene
  • Synonyms
    MRD31, PUR1, PURALPHA, PUR-ALPHA
  • Links
    NCBI Gene ID: 5813
    neXtProt AC: NX_Q00577

  • Chr Location
    5q31; chr5:140114123-140119416 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4279
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PURA
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PURA associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Dominant 31; MRD31   OMIM: 616158
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 2 alleles in 2 genetic backgrounds
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    36
  • Gene trapped
    32
  • Targeted
    4
  • Incidental Mutations
Homozygous null mice are overtly normal within the first few weeks of life but later manifest severe neurological defects and die shortly after weaning. Neuroanatomical abnormalities are also observed.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033186 VEGA Gene Model | MGI Sequence Detail 20425 C57BL/6J ±  kb
transcript OTTMUST00000083042 VEGA | MGI Sequence Detail 14943 Not Applicable  
polypeptide OTTMUSP00000044566 VEGA | MGI Sequence Detail 321 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    14 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000013494 transcriptional activator protein Pur-alpha
  • InterPro Domains
    IPR030500 Purine-rich element-binding protein alpha
    IPR006628 Purine-rich element binding protein family
Molecular
Reagents
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  • All nucleic 8
    cDNA 7
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-23943
References
more
  • Summaries
    All 48
    Developmental Gene Expression 5
    Gene Ontology 12
    Phenotypes 9
  • Earliest
    J:21627 Ma ZW, et al., Conservation in human and mouse Pur alpha of a motif common to several proteins involved in initiation of DNA replication. Gene. 1994 Nov 18;149(2):311-4
  • Latest
    J:179606 Hokkanen S, et al., Lack of Pur-alpha alters postnatal brain development and causes megalencephaly. Hum Mol Genet. 2012 Feb 1;21(3):473-84

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory