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Ppp1r13l Gene Detail
Summary
  • Symbol
    Ppp1r13l
  • Name
    protein phosphatase 1, regulatory subunit 13 like
  • Synonyms
    IASPP, NFkB interacting protein 1, wa3
  • Feature Type
    protein coding gene
  • IDs
    MGI:3525053
    NCBI Gene: 333654
  • Gene Overview
    MyGene.info: PPP1R13L
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:19359749-19378533 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.62 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    96 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3525053
protein coding gene Chr7:19359719-19378540 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031773
protein coding gene Chr7:17356453-17375317 (+)
A/J MGP_AJ_G0031749
protein coding gene Chr7:17003567-17024176 (+)
AKR/J MGP_AKRJ_G0031675
protein coding gene Chr7:17474360-17493207 (+)
BALB/cJ MGP_BALBcJ_G0031754
protein coding gene Chr7:17206708-17225572 (+)
C3H/HeJ MGP_C3HHeJ_G0031476
protein coding gene Chr7:17735328-17754180 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032220
protein coding gene Chr7:18232622-18251430 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029286
protein coding gene Chr7:18650134-18670622 (+)
CAST/EiJ MGP_CASTEiJ_G0030819
protein coding gene Chr7:14147382-14167128 (+)
CBA/J MGP_CBAJ_G0031438
protein coding gene Chr7:18892811-18911683 (+)
DBA/2J MGP_DBA2J_G0031593
protein coding gene Chr7:16947208-16965983 (+)
FVB/NJ MGP_FVBNJ_G0031545
protein coding gene Chr7:16808547-16827307 (+)
LP/J MGP_LPJ_G0031676
protein coding gene Chr7:17681310-17700146 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031581
protein coding gene Chr7:18747203-18767208 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032248
protein coding gene Chr7:17075764-17094618 (+)
PWK/PhJ MGP_PWKPhJ_G0030543
protein coding gene Chr7:14039471-14059533 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030370
protein coding gene Chr7:11787262-11803992 (+)
WSB/EiJ MGP_WSBEiJ_G0030919
protein coding gene Chr7:17299068-17317944 (+)



Homology
more
  • Human Ortholog
    PPP1R13L, protein phosphatase 1 regulatory subunit 13 like
  • Vertebrate Orthologs
    6
  • Human Ortholog
    PPP1R13L, protein phosphatase 1 regulatory subunit 13 like
    Orthology source: HomoloGene, HGNC
  • Synonyms
    IASPP, NKIP1, RAI, RAI4
  • Links
    NCBI Gene ID: 10848
    neXtProt AC: NX_Q8WUF5
    UniProt: Q8WUF5

  • Chr Location
    19q13.32; chr19:45379634-45406349 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ppp1r13l mouse models

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 5 alleles in 6 genetic backgrounds
    8 images
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygotes for spontaneous mutations in this gene exhibit cardiovascular defects leading to cardiomyopathy, open eyelids at birth, and coat abnormalities. One allele also shows postnatal lethality dependent on strain background and decreased weight, while another shows impaired fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040734 Ensembl Gene Model | MGI Sequence Detail 18785 C57BL/6J ±  kb
    transcript ENSMUST00000047621 Ensembl | MGI Sequence Detail 3130 Not Applicable  
    polypeptide ENSMUSP00000047839 Ensembl | MGI Sequence Detail 824 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 26
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1890874, MGI:2142182
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 5
      Phenotypes 12
    • Earliest
      J:91812 Stryke D, et al., BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Nucleic Acids Res. 2003 Jan 1;31(1):278-81
    • Latest
      J:258074 Dedeic Z, et al., Cell autonomous role of iASPP deficiency in causing cardiocutaneous disorders. Cell Death Differ. 2018 Jan 19;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory