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Plekha1 Gene Detail
Summary
  • Symbol
    Plekha1
  • Name
    pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
  • Synonyms
    C920009D07Rik, TAPP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442213
    NCBI Gene: 101476
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:130467486-130515042 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 73.19 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1296 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2442213
 protein coding gene Chr7:130462281-130515224 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033095
 protein coding gene Chr7:135418103-135474628 (+)
A/J MGP_AJ_G0033077
 protein coding gene Chr7:131718279-131766037 (+)
AKR/J MGP_AKRJ_G0033009
 protein coding gene Chr7:135221322-135270114 (+)
BALB/cJ MGP_BALBcJ_G0033078
 protein coding gene Chr7:131417297-131465117 (+)
C3H/HeJ MGP_C3HHeJ_G0032792
 protein coding gene Chr7:135087601-135136726 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033588
 protein coding gene Chr7:140632278-140680484 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030560
 protein coding gene Chr7:132871359-132921648 (+)
CAST/EiJ MGP_CASTEiJ_G0032122
 protein coding gene Chr7:126900706-126953237 (+)
CBA/J MGP_CBAJ_G0032765
 protein coding gene Chr7:145435013-145488459 (+)
DBA/2J MGP_DBA2J_G0032917
 protein coding gene Chr7:129720465-129768300 (+)
FVB/NJ MGP_FVBNJ_G0032870
 protein coding gene Chr7:129573411-129622431 (+)
LP/J MGP_LPJ_G0033011
 protein coding gene Chr7:136899449-136948821 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032902
 protein coding gene Chr7:146379470-146428647 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033609
 protein coding gene Chr7:134200357-134251027 (+)
PWK/PhJ MGP_PWKPhJ_G0031828
 protein coding gene Chr7:122788040-122837333 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031674
 protein coding gene Chr7:120971493-121020533 (+)
WSB/EiJ MGP_WSBEiJ_G0032233
 protein coding gene Chr7:135150811-135199737 (+)



Homology
more
  • Human Ortholog
    PLEKHA1, pleckstrin homology domain containing A1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLEKHA1, pleckstrin homology domain containing A1
  • Synonyms
    TAPP1
  • Links
    NCBI Gene ID: 59338
    neXtProt AC: NX_Q9HB21
    UniProt: Q9HB21

  • Chr Location
    10q26.13; chr10:122374696-122442600 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 4 genetic backgrounds
    25 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.
Mcie homozygous for a gene trapped allele exhibit postnatal lethality and increased body weight.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    6
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
membraneless 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
    890
  • Tissues
    63
  • cDNA Data
    8
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040268 Ensembl Gene Model | MGI Sequence Detail 47557 C57BL/6J ±  kb
    transcript ENSMUST00000075181 Ensembl | MGI Sequence Detail 2301 Not Applicable  
    polypeptide ENSMUSP00000074675 Ensembl | MGI Sequence Detail 383 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000012853 pleckstrin homology domain-containing family A member 1
      (term hierarchy)
    • InterPro Domains
      IPR011993 PH-like domain superfamily
      IPR051707 Phosphoinositide-Interacting Signal Transduction Regulators
      IPR001849 Pleckstrin homology domain
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 8
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2141852
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 8
      Gene Ontology 6
      Phenotypes 18
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory