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Pip5k1a Gene Detail
Summary
  • Symbol
    Pip5k1a
  • Name
    phosphatidylinositol-4-phosphate 5-kinase, type 1 alpha
  • Synonyms
    Pipk5a
  • Feature Type
    protein coding gene
  • IDs
    MGI:107929
    NCBI Gene: 18720
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:94965841-95014241 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 40.74 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    146 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107929
 protein coding gene Chr3:94965841-95014241 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027566
 protein coding gene Chr3:95742706-95799172 (-)
A/J MGP_AJ_G0027525
 protein coding gene Chr3:92795984-92845072 (-)
AKR/J MGP_AKRJ_G0027492
 protein coding gene Chr3:94935086-94984896 (-)
BALB/cJ MGP_BALBcJ_G0027537
 protein coding gene Chr3:92564905-92615413 (-)
C3H/HeJ MGP_C3HHeJ_G0027270
 protein coding gene Chr3:95216143-95267941 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027985
 protein coding gene Chr3:99306832-99365049 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025325
 protein coding gene Chr3:89157785-89205572 (-)
CAST/EiJ MGP_CASTEiJ_G0026720
 protein coding gene Chr3:94500694-94553220 (-)
CBA/J MGP_CBAJ_G0027247
 protein coding gene Chr3:102902462-102970520 (-)
DBA/2J MGP_DBA2J_G0027386
 protein coding gene Chr3:92089037-92136453 (-)
FVB/NJ MGP_FVBNJ_G0027357
 protein coding gene Chr3:90157705-90207218 (-)
LP/J MGP_LPJ_G0027495
 protein coding gene Chr3:97035973-97087735 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027384
 protein coding gene Chr3:109044199-109096167 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028039
 protein coding gene Chr3:94586650-94639837 (-)
PWK/PhJ MGP_PWKPhJ_G0026448
 protein coding gene Chr3:91965374-92015414 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026269
 protein coding gene Chr3:92883255-92935760 (-)
WSB/EiJ MGP_WSBEiJ_G0026802
 protein coding gene Chr3:94975230-95027092 (-)



Homology
more
  • Human Ortholog
    PIP5K1A, phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PIP5K1A, phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
  • Links
    NCBI Gene ID: 8394
    neXtProt AC: NX_Q99755
    UniProt: Q99755

  • Chr Location
    1q21.3; chr1:151195419-151249536 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 3 alleles in 2 genetic backgrounds
    12 phenotypes from multigenic genotypes
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a knock-out allele exhibit partial lethality and reduced male fertility associated with asthenozoospermia and abnormal midpiece morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    11
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    981
  • Tissues
    133
  • cDNA Data
    81
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18720 NCBI Gene Model | MGI Sequence Detail 48401 C57BL/6J ±  kb
    transcript NM_001293707 RefSeq | MGI Sequence Detail 3634 C57BL/6  
    polypeptide P70182 UniProt | EBI | MGI Sequence Detail 546 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000012744 phosphatidylinositol 4-phosphate 5-kinase type-1 alpha
      (term hierarchy)
    • EC
      2.7.1.68
    • InterPro Domains
      IPR023610 Phosphatidylinositol-4/5-phosphate 5/4-kinase
      IPR002498 Phosphatidylinositol-4-phosphate 4/5-kinase, core
      IPR027483 Phosphatidylinositol-4-phosphate 4/5-kinase, C-terminal domain superfamily
      IPR027484 Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
    Molecular
    Reagents
    less
    • All nucleic 83
      cDNA 81
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-36509
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:35632 Ishihara H, et al., Cloning of cDNAs encoding two isoforms of 68-kDa type I phosphatidylinositol-4-phosphate 5-kinase. J Biol Chem. 1996 Sep 27;271(39):23611-4
    • Latest
      J:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory