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Paxip1 Gene Detail
Summary
  • Symbol
    Paxip1
  • Name
    PAX interacting (with transcription-activation domain) protein 1
  • Synonyms
    D5Ertd149e, PTIP
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890430
    NCBI Gene: 55982
  • Gene Overview
    MyGene.info: PAXIP1
Location & Maps
more
  • Sequence Map
    Chr5:27740080-27791691 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51612 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PAXIP1, PAX interacting protein 1
  • Human Ortholog
    PAXIP1, PAX interacting protein 1
    Orthology source: HGNC
  • Synonyms
    CAGF28, CAGF29, PACIP1, PAXIP1L, PTIP, TNRC2
  • Links
    NCBI Gene ID: 22976
    neXtProt AC: NX_Q6ZW49

  • Chr Location
    7q36; chr7:154943687-155003178 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PAXIP1 associations

Human Disease Mouse Models
       Alzheimer Disease; AD   OMIM: 104300
Click on a disease name to see all genes associated with that disease.

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 4 alleles in 4 genetic backgrounds
    50 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
    22
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    2
  • Gene trapped
    9
  • Radiation induced
    5
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    8 involving Paxip1
  • Incidental Mutations
Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5.
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 OTTMUSG00000054125 VEGA Gene Model | MGI Sequence Detail 51612 C57BL/6J ±  kb
transcript OTTMUST00000134459 VEGA | MGI Sequence Detail 5850 Not Applicable  
polypeptide OTTMUSP00000071291 VEGA | MGI Sequence Detail 1056 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    264 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012322 PAX-interacting protein 1
  • InterPro Domains
    IPR001357 BRCT domain
Molecular
Reagents
less
  • All nucleic 10
    cDNA 8
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:1098588
References
more
  • Summaries
    All 54
    Developmental Gene Expression 4
    Diseases 2
    Gene Ontology 11
    Phenotypes 50
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:229465 Starnes LM, et al., A PTIP-PA1 subcomplex promotes transcription for IgH class switching independently from the associated MLL3/MLL4 methyltransferase complex. Genes Dev. 2016 Jan 15;30(2):149-63

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
05/17/2016
MGI 6.03
The Jackson Laboratory