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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
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:53918292-53933058 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 48.80 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    392 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 Chr19:53918087-53933058 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBIP1, BBSome interacting protein 1
  • 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
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
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    10 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.
Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    5
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
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
    706
  • cDNA Data
    59
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000084957 Ensembl Gene Model | MGI Sequence Detail 14767 C57BL/6J ±  kb
    transcript ENSMUST00000236098 Ensembl | MGI Sequence Detail 656 Not Applicable  
    polypeptide ENSMUSP00000158055 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 31
      Diseases 1
      Gene Ontology 5
      Phenotypes 10
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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