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Pabpn1 Gene Detail
Summary
  • Symbol
    Pabpn1
  • Name
    poly(A) binding protein, nuclear 1
  • Synonyms
    Pabp3, poly(A) binding protein II
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859158
    NCBI Gene: 54196
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:55131600-55136384 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 27.98 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    159 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859158
 protein coding gene Chr14:55129957-55136384 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021329
 protein coding gene Chr14:48874476-48880939 (+)
A/J MGP_AJ_G0021288
 protein coding gene Chr14:47910727-47917160 (+)
AKR/J MGP_AKRJ_G0021264
 protein coding gene Chr14:49655786-49662219 (+)
BALB/cJ MGP_BALBcJ_G0021292
 protein coding gene Chr14:47888116-47894602 (+)
C3H/HeJ MGP_C3HHeJ_G0021072
 protein coding gene Chr14:49348103-49354536 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021730
 protein coding gene Chr14:51343687-51352641 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019277
 protein coding gene Chr14:46322910-46329344 (+)
CAST/EiJ MGP_CASTEiJ_G0020591
 protein coding gene Chr14:45585430-45593297 (+)
CBA/J MGP_CBAJ_G0021039
 protein coding gene Chr14:52904741-52911174 (+)
DBA/2J MGP_DBA2J_G0021160
 protein coding gene Chr14:47651538-47657971 (+)
FVB/NJ MGP_FVBNJ_G0021142
 protein coding gene Chr14:47109217-47115543 (+)
LP/J MGP_LPJ_G0021234
 protein coding gene Chr14:49894430-49901320 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0021166
 protein coding gene Chr14:52287166-52295136 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021757
 protein coding gene Chr14:48833205-48839638 (+)
PWK/PhJ MGP_PWKPhJ_G0020338
 protein coding gene Chr14:44186704-44193137 (+)
SPRET/EiJ MGP_SPRETEiJ_G0020166
 protein coding gene Chr14:44816199-44822618 (+)
WSB/EiJ MGP_WSBEiJ_G0020644
 protein coding gene Chr14:49125274-49131706 (+)



Homology
more
  • Human Ortholog
    PABPN1, poly(A) binding protein nuclear 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PABPN1, poly(A) binding protein nuclear 1
  • Synonyms
    OPMD, PAB2, PABII, PABP-2, PABP2
  • Links
    NCBI Gene ID: 8106
    neXtProt AC: NX_Q86U42
    UniProt: Q86U42

  • Chr Location
    14q11.2; chr14:23321457-23326163 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PABPN1 associations

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
    9 phenotypes from 1 allele in 1 genetic background
    10 phenotypes from multigenic genotypes
    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.
Homozygous KO and poly-alanine KI is embryonic lethal. Heterozygosity affects mitochondria and causes age- and muscle-specific muscle hypo- and hypertrophy.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    9
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
    772
  • Tissues
    52
  • cDNA Data
    173
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54196 NCBI Gene Model | MGI Sequence Detail 4785 C57BL/6J ±  kb
    transcript NM_019402 RefSeq | MGI Sequence Detail 1793 ZRU/MplStud  
    polypeptide Q8CCS6 UniProt | EBI | MGI Sequence Detail 302 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000012210 polyadenylate-binding protein 2
      (term hierarchy)
    • InterPro Domains
      IPR012677 Nucleotide-binding alpha-beta plait domain superfamily
      IPR035979 RNA-binding domain superfamily
      IPR000504 RNA recognition motif domain
    • GlyGen
      Q8CCS6 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 174
      cDNA 173
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 9
      Phenotypes 8
    • Earliest
      J:44882 Lee YJ, et al., Genomic structure and expression of murine poly(A) binding protein II gene. Biochim Biophys Acta. 1998 Jan 7;1395(1):40-6
    • Latest
      J:331065 Dai XX, et al., PABPN1 functions as a hub in the assembly of nuclear poly(A) domains that are essential for mouse oocyte development. Sci Adv. 2022 Oct 28;8(43):eabn9016
    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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    11/19/2024
    MGI 6.24     		The Jackson Laboratory