Bbip1 MGI Mouse Gene Detail - MGI:1913610 - BBSome interacting protein 1

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

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

SNPs within 2kb

60 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:28093

NCBI Gene ID: 92482

neXtProt AC: NX_A8MTZ0

UniProt: A8MTZ0
Chr Location

10q25.2; chr10:110898730-110919366 (-) GRCh38

MGI Vertebrate Homology

Bbip1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: BBIP1
Gene Tree

Bbip1

Diseases

1 with Bbip1 mouse models; 1 with human BBIP1 associations

Human Disease

Mouse Models

Bardet-Biedl syndrome 18

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

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Phenotype Summary

14 phenotypes from 2 alleles in 3 genetic backgrounds
9 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

28
Endonuclease-mediated

2
Gene trapped

25
Targeted

1
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display strain dependent postnatal lethality, obesity, hyperphagia, retinal degeneration and male infertility.

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All GO Annotations

14
GO References

4

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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bbip1

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All Sequences

64
RefSeq

12
UniProt

1
CCDS

CCDS57147.1

Ensembl

ENSMUSG00000084957 (Evidence)
NCBI Gene

100503572

			Length	Strain/Species	Flank
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

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UniProt

1 Sequence
InterPro Domains

IPR028233 Cilia BBSome complex subunit 10

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All nucleic 61

cDNA 61

Microarray probesets 4

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MGI:1917356, MGI:1922539

Summaries

All 30

Diseases 1

Gene Ontology 4

Phenotypes 9
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:302209 Tsyklauri O, et al., Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance. EMBO Rep. 2021 Feb 3;22(2):e50785

TSS for Bbip1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr159839	Chr19:53933052-53933063 (-)	0 bp
Tssr159838	Chr19:53932867-53932918 (-)	165 bp
Tssr5553	Chr19:53932690-53932695 (-)	365 bp
Tssr159837	Chr19:53932664-53932686 (-)	383 bp
Tssr159836	Chr19:53932596-53932657 (-)	431 bp

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)
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