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Aliases for BBIP1 Gene

Aliases for BBIP1 Gene

  • BBSome Interacting Protein 1 2 3 5
  • BBSome-Interacting Protein Of 10 KDa 3 4
  • NCRNA00081 3 4
  • BBIP10 3 4
  • BBSome-Interacting Protein 1 3
  • Non-Protein Coding RNA 81 2
  • UPF0604 Protein 3
  • BA348N5.3 3
  • BBS18 3

External Ids for BBIP1 Gene

Previous HGNC Symbols for BBIP1 Gene

  • NCRNA00081

Previous GeneCards Identifiers for BBIP1 Gene

  • GC10M112658

Summaries for BBIP1 Gene

Entrez Gene Summary for BBIP1 Gene

  • This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for BBIP1 Gene

BBIP1 (BBSome Interacting Protein 1) is a Protein Coding gene. Diseases associated with BBIP1 include Bardet-Biedl Syndrome 18 and Bbip1-Related Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane.

UniProtKB/Swiss-Prot for BBIP1 Gene

  • The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBIP1 Gene

Genomics for BBIP1 Gene

Regulatory Elements for BBIP1 Gene

Enhancers for BBIP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F110857 1.4 FANTOM5 ENCODE 17.4 +53.2 53197 18.0 HDGF PKNOX1 MLX CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 YY1 ZNF207 SHOC2 BBIP1 PDCD4 ADRA2A ENSG00000270589 DUSP5 ENSG00000232470 RNA5SP327
GH10F110883 1.1 Ensembl ENCODE 15.4 +35.3 35319 0.8 ATF1 MLX ARID4B YY1 SLC30A9 SP5 ZHX2 REST MIER2 PPARG BBIP1 SHOC2 PDCD4-AS1 GC10M110900
GH10F110220 1.1 FANTOM5 Ensembl ENCODE 14.4 +697.7 697662 3.4 PKNOX1 ATF1 ARNT FEZF1 BRCA1 ZNF2 GLIS2 ELK1 FOS DEK MXI1 BBIP1 SMNDC1 ADD3 LOC105378480 ENSG00000228417
GH10F110991 1 Ensembl ENCODE 11.5 -73.5 -73462 2.1 GATAD2A PKNOX1 CEBPA HLF CEBPB FOS BBIP1 SHOC2 ENSG00000232470 MIR4680 PDCD4 ADRA2A MIR548E GC10P111035
GH10F110555 1 Ensembl ENCODE 11.5 +362.8 362752 2.1 ZNF263 CTCF ZNF680 TRIM22 RAD21 ZNF585B ZNF143 SMC3 CREM BBIP1 DUSP5 RPL7P35 LOC105378483
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BBIP1 on UCSC Golden Path with GeneCards custom track

Promoters for BBIP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000361767 -534 4201 HDGF PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for BBIP1 Gene

Chromosome:
10
Start:
110,898,730 bp from pter
End:
110,919,366 bp from pter
Size:
20,637 bases
Orientation:
Minus strand

Genomic View for BBIP1 Gene

Genes around BBIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBIP1 Gene

Proteins for BBIP1 Gene

  • Protein details for BBIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A8MTZ0-BBIP1_HUMAN
    Recommended name:
    BBSome-interacting protein 1
    Protein Accession:
    A8MTZ0
    Secondary Accessions:
    • E9PIY9
    • E9PM41
    • E9PRI7

    Protein attributes for BBIP1 Gene

    Size:
    92 amino acids
    Molecular mass:
    10506 Da
    Quaternary structure:
    • Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. Interacts with HDAC6.

    Alternative splice isoforms for BBIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BBIP1 Gene

Post-translational modifications for BBIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BBIP1 Gene

Domains & Families for BBIP1 Gene

Gene Families for BBIP1 Gene

Protein Domains for BBIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BBIP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A8MTZ0

UniProtKB/Swiss-Prot:

BBIP1_HUMAN :
  • Belongs to the BBIP10 family.
Family:
  • Belongs to the BBIP10 family.
genes like me logo Genes that share domains with BBIP1: view

Function for BBIP1 Gene

Molecular function for BBIP1 Gene

UniProtKB/Swiss-Prot Function:
The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation.

Gene Ontology (GO) - Molecular Function for BBIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19081074
genes like me logo Genes that share ontologies with BBIP1: view
genes like me logo Genes that share phenotypes with BBIP1: view

Human Phenotype Ontology for BBIP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BBIP1 Gene

MGI Knock Outs for BBIP1:

Animal Model Products

miRNA for BBIP1 Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BBIP1 Gene

Localization for BBIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBIP1 Gene

Cell projection, cilium. Cytoplasm. Note=Localizes inside the primary cilium but not at centriolar satellites.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BBIP1 Gene COMPARTMENTS Subcellular localization image for BBIP1 gene
Compartment Confidence
cytosol 4

Gene Ontology (GO) - Cellular Components for BBIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 19081074
GO:0005829 cytosol TAS --
GO:0005929 cilium IEA --
GO:0034464 BBSome IEA,IDA 19081074
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with BBIP1: view

Pathways & Interactions for BBIP1 Gene

genes like me logo Genes that share pathways with BBIP1: view

Gene Ontology (GO) - Biological Process for BBIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0030030 cell projection organization IEA --
GO:0060271 cilium assembly IMP 19081074
GO:0097500 receptor localization to non-motile cilium IBA --
genes like me logo Genes that share ontologies with BBIP1: view

No data available for SIGNOR curated interactions for BBIP1 Gene

Transcripts for BBIP1 Gene

Unigene Clusters for BBIP1 Gene

BBSome interacting protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BBIP1 Gene

No ASD Table

Relevant External Links for BBIP1 Gene

GeneLoc Exon Structure for
BBIP1
ECgene alternative splicing isoforms for
BBIP1

Expression for BBIP1 Gene

mRNA expression in normal human tissues for BBIP1 Gene

mRNA differential expression in normal tissues according to GTEx for BBIP1 Gene

This gene is overexpressed in Testis (x5.4).

NURSA nuclear receptor signaling pathways regulating expression of BBIP1 Gene:

BBIP1

SOURCE GeneReport for Unigene cluster for BBIP1 Gene:

Hs.232543
genes like me logo Genes that share expression patterns with BBIP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BBIP1 Gene

Orthologs for BBIP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BBIP1 34
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia BBIP1 34
  • 89.05 (n)
mouse
(Mus musculus)
Mammalia Bbip1 34 16
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910342 34
  • 88.57 (n)
cow
(Bos Taurus)
Mammalia BBIP1 34
  • 87.92 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia bbip1 34
  • 71.28 (n)
zebrafish
(Danio rerio)
Actinopterygii bbip1 34
  • 70.77 (n)
Species where no ortholog for BBIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BBIP1 Gene

ENSEMBL:
Gene Tree for BBIP1 (if available)
TreeFam:
Gene Tree for BBIP1 (if available)

Paralogs for BBIP1 Gene

Pseudogenes.org Pseudogenes for BBIP1 Gene

genes like me logo Genes that share paralogs with BBIP1: view

No data available for Paralogs for BBIP1 Gene

Variants for BBIP1 Gene

Sequence variations from dbSNP and Humsavar for BBIP1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs515726134 Pathogenic 110,900,466(+) ATTTT(A/C)AGGGT downstream-variant-500B, reference, utr-variant-3-prime, stop-gained
rs192673935 Benign 110,919,648(+) TCGGG(G/T)CTCCT intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1052550 -- 110,898,269(+) TTTTT(C/T)TGTTT downstream-variant-500B, utr-variant-3-prime
rs1059878 -- 110,900,234(+) TTTTT(G/T)TATTT downstream-variant-500B, utr-variant-3-prime
rs1059881 -- 110,900,009(+) GTAAA(A/T)AAAAG downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BBIP1 Gene

Variant ID Type Subtype PubMed ID
esv3624544 CNV loss 21293372
nsv1035602 CNV loss 25217958
nsv1069515 CNV deletion 25765185
nsv1143517 CNV deletion 24896259
nsv7211 OTHER inversion 18451855
nsv7548 CNV insertion 18451855
nsv825565 CNV loss 20364138
nsv831985 CNV gain+loss 17160897

Variation tolerance for BBIP1 Gene

Gene Damage Index Score: 0.11; 2.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBIP1 Gene

Human Gene Mutation Database (HGMD)
BBIP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBIP1 Gene

Disorders for BBIP1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for BBIP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
bardet-biedl syndrome 18
  • bbs18
bbip1-related bardet-biedl syndrome
  • bardet-biedl syndrome 18
bardet-biedl syndrome
  • biedl-bardet syndrome
bardet-biedl syndrome 12
  • bbs12
bardet-biedl syndrome 11
  • bbs11
- elite association - COSMIC cancer census association via MalaCards
Search BBIP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BBIP1_HUMAN
  • Bardet-Biedl syndrome 18 (BBS18) [MIM:615995]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269 PubMed:24026985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BBIP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBIP1
genes like me logo Genes that share disorders with BBIP1: view

No data available for Genatlas for BBIP1 Gene

Publications for BBIP1 Gene

  1. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). (PMID: 24026985) Scheidecker S. … Dollfus H. (J. Med. Genet. 2014) 3 4 64
  2. A BBSome subunit links ciliogenesis, microtubule stability and acetylation. (PMID: 19081074) Loktev A.V. … Nachury M.V. (Dev. Cell 2008) 2 3 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for BBIP1 Gene

Sources for BBIP1 Gene

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