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Paxbp1 Gene Detail
Summary
  • Symbol
    Paxbp1
  • Name
    PAX3 and PAX7 binding protein 1
  • Synonyms
    1810007M14Rik, Gcfc1, Pax3/7bp
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914617
    NCBI Gene: 67367
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:90810925-90841267 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 52.30 cM, cytoband C3.3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    810 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914617
 protein coding gene Chr16:90810925-90841431 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023033
 protein coding gene Chr16:91994434-92026122 (-)
A/J MGP_AJ_G0023001
 protein coding gene Chr16:87704104-87734593 (-)
AKR/J MGP_AKRJ_G0022971
 protein coding gene Chr16:90343421-90373902 (-)
BALB/cJ MGP_BALBcJ_G0023003
 protein coding gene Chr16:88224016-88254886 (-)
C3H/HeJ MGP_C3HHeJ_G0022764
 protein coding gene Chr16:90909738-90940675 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023450
 protein coding gene Chr16:94978609-95009130 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020952
 protein coding gene Chr16:85409537-85440026 (-)
CAST/EiJ MGP_CASTEiJ_G0022283
 protein coding gene Chr16:91461267-91493017 (-)
CBA/J MGP_CBAJ_G0022733
 protein coding gene Chr16:99029994-99065620 (-)
DBA/2J MGP_DBA2J_G0022867
 protein coding gene Chr16:87602732-87633991 (-)
FVB/NJ MGP_FVBNJ_G0022841
 protein coding gene Chr16:86733343-86763964 (-)
LP/J MGP_LPJ_G0022937
 protein coding gene Chr16:91689372-91721669 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022862
 protein coding gene Chr16:103597369-103630390 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023468
 protein coding gene Chr16:90855396-90885926 (-)
PWK/PhJ MGP_PWKPhJ_G0022028
 protein coding gene Chr16:87775821-87806994 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021858
 protein coding gene Chr16:90417037-90450100 (-)
WSB/EiJ MGP_WSBEiJ_G0022335
 protein coding gene Chr16:91100446-91131923 (-)



Homology
more
  • Human Ortholog
    PAXBP1, PAX3 and PAX7 binding protein 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PAXBP1, PAX3 and PAX7 binding protein 1
  • Synonyms
    BM020, C21orf66, FSAP105, GCFC, GCFC1
  • Links
    NCBI Gene ID: 94104
    neXtProt AC: NX_Q9Y5B6
    UniProt: Q9Y5B6

  • Chr Location
    21q22.11; chr21:32733899-32771792 (-)  GRCh38
Human Diseases
less
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    80 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 in muscle cells is embryonic lethal. Inducible homozygous KO in adult muscle stem cells affects mitochondrial biogenesis in activated stem cells, blocking their reentry into the cell cycle upon activation, resulting in defective muscle regeneration after injury.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    4
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
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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
    1031
  • Tissues
    137
  • cDNA Data
    14
  • Literature Summary
    4
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 67367 NCBI Gene Model | MGI Sequence Detail 30343 C57BL/6J ±  kb
transcript NR_152264 RefSeq | MGI Sequence Detail 3826 C57BL/6  
polypeptide P58501 UniProt | EBI | MGI Sequence Detail 919 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 16
    cDNA 14
    Primer pair 2

    Microarray probesets 5
References
more
  • Summaries
    All 105
    Developmental Gene Expression 4
    Diseases 4
    Gene Ontology 4
    Phenotypes 80
  • Earliest
    J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
  • Latest
    J:355212 Huang C, et al., Paxbp1 Is Indispensable for the Maintenance of Epidermal Homeostasis. J Invest Dermatol. 2024 Sep 3;
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
12/10/2024
MGI 6.24 		The Jackson Laboratory