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Pgghg Gene Detail
Summary
  • Symbol
    Pgghg
  • Name
    protein glucosylgalactosylhydroxylysine glucosidase
  • Synonyms
    5730511L01Rik, Athl1, MGC:28193
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444047
    NCBI Gene: 212974
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:140521304-140527577 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 86.16 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    239 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444047
 protein coding gene Chr7:140521304-140527577 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033201
 protein coding gene Chr7:146078851-146085124 (+)
A/J MGP_AJ_G0033183
 protein coding gene Chr7:141925287-141931560 (+)
AKR/J MGP_AKRJ_G0033115
 protein coding gene Chr7:145815892-145822165 (+)
BALB/cJ MGP_BALBcJ_G0033184
 protein coding gene Chr7:141653015-141659288 (+)
C3H/HeJ MGP_C3HHeJ_G0032898
 protein coding gene Chr7:145572990-145579263 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033695
 protein coding gene Chr7:151424270-151430543 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030668
 protein coding gene Chr7:143136029-143142282 (+)
CAST/EiJ MGP_CASTEiJ_G0032228
 protein coding gene Chr7:137873240-137879558 (+)
CBA/J MGP_CBAJ_G0032870
 protein coding gene Chr7:156551179-156557452 (+)
DBA/2J MGP_DBA2J_G0033023
 protein coding gene Chr7:139863334-139869607 (+)
FVB/NJ MGP_FVBNJ_G0032975
 protein coding gene Chr7:139776006-139782279 (+)
LP/J MGP_LPJ_G0033117
 protein coding gene Chr7:147583305-147589578 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033008
 protein coding gene Chr7:157215406-157221679 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033715
 protein coding gene Chr7:144800052-144806325 (+)
PWK/PhJ MGP_PWKPhJ_G0031933
 protein coding gene Chr7:133135538-133141815 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031779
 protein coding gene Chr7:131616052-131622375 (+)
WSB/EiJ MGP_WSBEiJ_G0032339
 protein coding gene Chr7:145721648-145727913 (+)



Homology
more
  • Human Ortholog
    PGGHG, protein-glucosylgalactosylhydroxylysine glucosidase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PGGHG, protein-glucosylgalactosylhydroxylysine glucosidase
  • Synonyms
    ATHL1
  • Links
    NCBI Gene ID: 80162
    neXtProt AC: NX_Q32M88
    UniProt: Q32M88

  • Chr Location
    11p15.5; chr11:289126-296107 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    5
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
non-membrane-bounded 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
    812
  • Tissues
    103
  • cDNA Data
    44
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 212974 NCBI Gene Model | MGI Sequence Detail 6274 C57BL/6J ±  kb
transcript NM_145387 RefSeq | MGI Sequence Detail 3171 C57BL/6  
polypeptide Q8BP56 UniProt | EBI | MGI Sequence Detail 690 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 45
    cDNA 45

    Microarray probesets 4
References
more
  • Summaries
    All 35
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 11
  • Earliest
    J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
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
10/29/2024
MGI 6.24 		The Jackson Laboratory