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Pdcd6ip Gene Detail
Summary
  • Symbol
    Pdcd6ip
  • Name
    programmed cell death 6 interacting protein
  • Synonyms
    AIP1, Alix, mKIAA1375
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333753
    NCBI Gene: 18571
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:113480812-113537327 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 64.03 cM, cytoband F2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1547 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333753
 protein coding gene Chr9:113480812-113537457 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035378
 protein coding gene Chr9:116015083-116072932 (-)
A/J MGP_AJ_G0035359
 protein coding gene Chr9:111701022-111758275 (-)
AKR/J MGP_AKRJ_G0035290
 protein coding gene Chr9:114547095-114604668 (-)
BALB/cJ MGP_BALBcJ_G0035354
 protein coding gene Chr9:111521763-111578147 (-)
C3H/HeJ MGP_C3HHeJ_G0035062
 protein coding gene Chr9:115075447-115133074 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035875
 protein coding gene Chr9:119172594-119231064 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032762
 protein coding gene Chr9:108859485-108916351 (-)
CAST/EiJ MGP_CASTEiJ_G0034368
 protein coding gene Chr9:114907041-114966012 (-)
CBA/J MGP_CBAJ_G0035029
 protein coding gene Chr9:123555358-123615009 (-)
DBA/2J MGP_DBA2J_G0035188
 protein coding gene Chr9:111153307-111211193 (-)
FVB/NJ MGP_FVBNJ_G0035134
 protein coding gene Chr9:109994223-110050972 (-)
LP/J MGP_LPJ_G0035267
 protein coding gene Chr9:116311032-116370615 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035175
 protein coding gene Chr9:124813935-124877293 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035896
 protein coding gene Chr9:114932147-114991532 (-)
PWK/PhJ MGP_PWKPhJ_G0034074
 protein coding gene Chr9:111461770-111519249 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033909
 protein coding gene Chr9:115008660-115064787 (-)
WSB/EiJ MGP_WSBEiJ_G0034488
 protein coding gene Chr9:114784912-114845471 (-)



Homology
more
  • Human Ortholog
    PDCD6IP, programmed cell death 6 interacting protein
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PDCD6IP, programmed cell death 6 interacting protein
  • Synonyms
    AIP1, ALIX, DRIP4, HP95, MCPH29
  • Links
    NCBI Gene ID: 10015
    neXtProt AC: NX_Q8WUM4
    UniProt: Q8WUM4

  • Chr Location
    3p22.3; chr3:33798571-33869707 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PDCD6IP associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    44 phenotypes from 3 alleles in 3 genetic backgrounds
    8 images
    8 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.
Mice homozygous for a knock-out allele show decreased body and brain size and exhibit structural defects in the epithelium of the choroid plexus and in the brain ependyma that culminate in excessive cell extrusion, enlargement of the lateral ventricles, and hydrocephalus.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    46
  • GO References
    19
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
    769
  • Tissues
    43
  • cDNA Data
    27
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032504 Ensembl Gene Model | MGI Sequence Detail 56516 C57BL/6J ±  kb
    transcript ENSMUST00000111861 Ensembl | MGI Sequence Detail 3223 Not Applicable  
    polypeptide ENSMUSP00000107492 Ensembl | MGI Sequence Detail 874 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 27
      Primer pair 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2143076, MGI:2143314, MGI:2143376
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 4
      Gene Ontology 19
      Phenotypes 8
    • Earliest
      J:52190 Vito P, et al., Cloning of AIP1, a novel protein that associates with the apoptosis-linked gene ALG-2 in a Ca2+-dependent reaction. J Biol Chem. 1999 Jan 15;274(3):1533-40
    • Latest
      J:347014 Wang YZ, et al., Notch receptor-ligand binding facilitates extracellular vesicle-mediated neuron-to-neuron communication. Cell Rep. 2024 Jan 17;43(2):113680
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory