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Gp1bb Gene Detail
Summary
  • Symbol
    Gp1bb
  • Name
    glycoprotein Ib, beta polypeptide
  • Feature Type
    protein coding gene
  • IDs
    MGI:107852
    NCBI Gene: 14724
  • Gene Overview
    MyGene.info: GP1BB
Location & Maps
more
  • Sequence Map
    Chr16:18620319-18622403 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2085 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 16, 11.53 cM
  • Mapping Data
    12 experiments
Homology
more
  • Human Ortholog
    GP1BB, glycoprotein Ib platelet beta subunit
  • Vertebrate Orthologs
    7
  • Human Ortholog
    GP1BB, glycoprotein Ib platelet beta subunit
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BDPLT1, BS, CD42C, GPIBB, GPIbbeta
  • Links
    NCBI Gene ID: 2812
    neXtProt AC: NX_P13224

  • Chr Location
    22q11.21; chr22:19723543-19724774 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gp1bb mouse models; 1 with human GP1BB associations

Human Disease Mouse Models
       Bernard-Soulier Syndrome; BSS   OMIM: 231200 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    14 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 3 alleles in 2 genetic backgrounds
    17 phenotypes from multigenic genotypes
    48 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.
  • All Mutations and Alleles
    14
  • Targeted
    12
  • Transgenic
    2
  • Genomic Mutations
    7 involving Gp1bb
  • Incidental Mutations
Mice homozygous for disruptions in this gene have a significantly smaller than normal number of abnormally large platelets. They also display a severe bleeding phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 14724 NCBI Gene Model | MGI Sequence Detail 2085 C57BL/6J ±  kb
transcript NM_001001999 RefSeq | MGI Sequence Detail 2085 Not Specified  
polypeptide P56400 UniProt | EBI | MGI Sequence Detail 206 Not Applicable  
For the selected sequence
Polymorphisms
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  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000001908 platelet glycoprotein Ib beta chain
  • InterPro Domains
    IPR000483 Cysteine-rich flanking region, C-terminal
    IPR032675 Leucine-rich repeat domain, L domain-like
    IPR000372 Leucine-rich repeat N-terminal domain
Molecular
Reagents
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  • All nucleic 37
    Genomic 27
    cDNA 8
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-36429
References
more
  • Summaries
    All 40
    Developmental Gene Expression 9
    Diseases 14
    Gene Ontology 2
    Phenotypes 48
  • Earliest
    J:42557 Kitaguchi T, et al., Characterization of the gene encoding mouse platelet glycoprotien Ib beta. Thromb Res. 1997 Jul 15;87(2):235-44
  • Latest
    J:233088 Frame JM, et al., Definitive Hematopoiesis in the Yolk Sac Emerges from Wnt-Responsive Hemogenic Endothelium Independently of Circulation and Arterial Identity. Stem Cells. 2016 Feb;34(2):431-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory