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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 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.

Additional gene information for BBIP1 Gene

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

Genomics for BBIP1 Gene

GeneHancer (GH) Regulatory Elements for BBIP1 Gene

Promoters and enhancers for BBIP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J110915 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 668.2 +0.6 562 5.9 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 BBIP1 SHOC2 SMC3 SMNDC1 RPL7P35 ENSG00000270589 XPNPEP1 ADRA2A PDCD4
GH10J110857 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.4 +53.2 53196 18 FEZF1 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 PDCD4 SHOC2 BBIP1 ADRA2A ENSG00000270589 DUSP5 ENSG00000232470 PDCD4-AS1 RNA5SP327 GC10P110732
GH10J109992 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.4 +923.6 923584 7.4 HDGF PKNOX1 FEZF1 BATF TCF12 ZNF121 ZSCAN5C SCRT2 ATF7 KLF7 ADD3 SMC3 XPNPEP1 BBIP1 ADD3-AS1
GH10J110883 Enhancer 1 Ensembl ENCODE dbSUPER 15.5 +35.3 35318 0.8 MEIS2 HDAC2 REST MNT MYC RUNX3 CREM ZNF592 BBIP1 SHOC2 PDCD4 PDCD4-AS1 MIR4680 GC10P110732
GH10J111076 Promoter/Enhancer 1.4 Ensembl ENCODE 10.9 -157.8 -157825 2 SIN3A ZNF2 GLIS2 ZNF143 ZNF548 RUNX3 KLF13 SP3 REST GLIS1 ADRA2A PIR58551 PIR36818 GC10P111079 SMC3 RPL7P35 SMNDC1 BBIP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BBIP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BBIP1 Gene

Genomic Locations for BBIP1 Gene
chr10:110,898,730-110,919,366
(GRCh38/hg38)
Size:
20,637 bases
Orientation:
Minus strand
chr10:112,658,488-112,679,124
(GRCh37/hg19)

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.

Phenotypes From GWAS Catalog for BBIP1 Gene

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IDA 19081074
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with BBIP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BBIP1 Gene

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: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

Drugs & Compounds for BBIP1 Gene

No Compound Related Data Available

Transcripts for BBIP1 Gene

Unigene Clusters for BBIP1 Gene

BBSome interacting protein 1:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for BBIP1 Gene

  • Bone marrow(4)
  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BBIP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • olfactory bulb
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • heart
  • heart valve
  • lung
Abdomen:
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
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 33
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia BBIP1 33
  • 89.05 (n)
mouse
(Mus musculus)
Mammalia Bbip1 16 33
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910342 33
  • 88.57 (n)
cow
(Bos Taurus)
Mammalia BBIP1 33
  • 87.92 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia bbip1 33
  • 71.28 (n)
zebrafish
(Danio rerio)
Actinopterygii bbip1 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BBIP1: view image

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 Variation AA Info Type
rs515726134 pathogenic, Bardet-Biedl syndrome, Bardet-Biedl syndrome 18 110,900,466(-) A/C 3_prime_UTR_variant, coding_sequence_variant, stop_gained
rs985313643 uncertain-significance, Noonan syndrome-like disorder with loose anagen hair 1 110,919,638(-) C/T upstream_transcript_variant
rs192673935 benign, not specified 110,919,648(-) G/T upstream_transcript_variant
rs1000017070 -- 110,914,177(-) G/C intron_variant
rs1000242332 -- 110,915,522(-) C/T intron_variant

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)

Additional Variant Information for BBIP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BBIP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BBIP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for 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 (Journal of medical genetics 2014) 3 4 58
  2. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. (PMID: 19081074) Loktev AV … Nachury MV (Developmental cell 2008) 2 3 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for BBIP1 Gene

Sources for BBIP1 Gene

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