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Bbip1 Gene Detail
Summary
  • Symbol
    Bbip1
  • Name
    BBSome interacting protein 1
  • Synonyms
    2310002J21Rik, 2610002B11Rik, 4930560M04Rik, Ncrna00081
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913610
    NCBI Gene: 100503572
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:53929677-53944627 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 19, 48.80 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    60 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913610
protein coding gene Chr19:53929656-53944643 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025251
protein coding gene Chr19:54107770-54126244 (-)
A/J MGP_AJ_G0025227
protein coding gene Chr19:51446938-51461768 (-)
AKR/J MGP_AKRJ_G0025196
protein coding gene Chr19:53071080-53085869 (-)
BALB/cJ MGP_BALBcJ_G0025222
protein coding gene Chr19:51533255-51548101 (-)
C3H/HeJ MGP_C3HHeJ_G0024982
protein coding gene Chr19:53287795-53303513 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025665
protein coding gene Chr19:55410881-55425701 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023077
protein coding gene Chr19:50434979-50449562 (-)
CAST/EiJ MGP_CASTEiJ_G0024447
protein coding gene Chr19:53253946-53272312 (-)
CBA/J MGP_CBAJ_G0024962
protein coding gene Chr19:58180514-58197765 (-)
DBA/2J MGP_DBA2J_G0025094
protein coding gene Chr19:51256502-51273144 (-)
FVB/NJ MGP_FVBNJ_G0025055
protein coding gene Chr19:50974938-50989597 (-)
LP/J MGP_LPJ_G0025180
protein coding gene Chr19:53997369-54013835 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025088
protein coding gene Chr19:57599204-57614701 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025723
protein coding gene Chr19:53264160-53280030 (-)
PWK/PhJ MGP_PWKPhJ_G0024195
protein coding gene Chr19:51166024-51180868 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023998
protein coding gene Chr19:51938603-51954625 (-)
WSB/EiJ MGP_WSBEiJ_G0024517
protein coding gene Chr19:53393404-53408237 (-)



Homology
more
  • Human Ortholog
    BBIP1, BBSome interacting protein 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    BBIP1, BBSome interacting protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    bA348N5.3, BBIP10, BBS18, NCRNA00081
  • Links
    NCBI Gene ID: 92482
    neXtProt AC: NX_A8MTZ0
    UniProt: A8MTZ0

  • Chr Location
    10q25.2; chr10:110898730-110919366 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Bbip1 mouse models; 1 with human BBIP1 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
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  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    4 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000084957 Ensembl Gene Model | MGI Sequence Detail 14951 C57BL/6J ±  kb
transcript ENSMUST00000135402 Ensembl | MGI Sequence Detail 2488 Not Applicable  
polypeptide ENSMUSP00000136324 Ensembl | MGI Sequence Detail 67 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    1 Sequence
  • InterPro Domains
    IPR028233 Cilia BBSome complex subunit 10
Molecular
Reagents
less
  • All nucleic 61
    cDNA 61

    Microarray probesets 4
Other
Accession IDs
less
MGI:1917356, MGI:1922539
References
more
  • Summaries
    All 24
    Diseases 1
    Gene Ontology 4
    Phenotypes 4
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:204140 Loktev AV, et al., Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia. Cell Rep. 2013 Dec 12;5(5):1316-29

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
03/13/2019
MGI 6.13
The Jackson Laboratory