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Gp1bb
Gene Detail
Symbol

Name
ID
Gp1bb
glycoprotein Ib, beta polypeptide
MGI:107852
Feature Type
protein coding gene
Genetic Map
Chromosome 16
11.53 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr16:18620319-18622403 bp, - strand
From NCBI annotation of GRCm38

  2085 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:30972  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Gp1bb

Human
homologs
Human Homolog GP1BB, glycoprotein Ib (platelet), beta polypeptide
NCBI Gene ID 2812
neXtProt AC  NX_P13224
Human Synonyms  BDPLT1, BS, CD42C, GPIBB
Human Chr (Location)  22q11.21; chr22:19723543-19724774 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GP1BB
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Genomic Mutations involving Gp1bb (2)
 
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.
 
Human Diseases Modeled Using Mouse Gp1bb (1)    Alleles Annotated to Human Diseases(5)   
Interactions
Gp1bb interacts with 42 markers (Mir1b, Mir15a, Mir92-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process blood coagulation, cell adhesion, ...
Component integral component of membrane, integral component of plasma membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (74)    Tissues (49)    Images (17)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 42
RT-PCR 32
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(37) Genomic(27) cDNA(8) Primer pair(2)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000050761 (Evidence)
Entrez Gene14724 (Evidence)
Consensus CDS ProjectCCDS28025.1, CCDS49787.1
International Mouse Knockout Project StatusGp1bb
Sequences
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 sequences
All sequences(29) RefSeq(4) UniProt(2)
Polymorphisms
RFLP(1) : SNPs within 2kb(0 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000483 Cysteine-rich flanking region, C-terminal
InterPro IPR000372 Leucine-rich repeat-containing N-terminal
Protein Ontology PR:000001908 platelet glycoprotein Ib beta chain
Graphical View of Protein Domain Structure
References
(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:188772 Voss AK, et al., MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Dev Cell. 2012 Sep 11;23(3):652-63
All references(38)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-36429

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
10/08/2014
MGI 5.20
The Jackson Laboratory