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    BBIP1 BBSome interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 92482, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BBIP1provided by HGNC
    Official Full Name
    BBSome interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:28093
    See related
    Ensembl:ENSG00000214413 MIM:613605; AllianceGenome:HGNC:28093
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BBS18; BBIP10; bA348N5.3; NCRNA00081
    Summary
    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]
    Annotation information
    Note: This gene, previously thought to be non-coding and described as NCRNA00081, is represented as protein coding based on evaluation of the transcript data and evidence that a functional protein exists presented in PMID: 19081074. [02 Sep 2010]
    Expression
    Broad expression in testis (RPKM 16.1), brain (RPKM 5.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BBIP1 in Genome Data Viewer
    Location:
    10q25.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (110898730..110919366, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (111782514..111803145, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (112658488..112679124, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112630184-112630794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2824 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2825 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2826 Neighboring gene PDCD4 antisense RNA 1 Neighboring gene programmed cell death 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4058 Neighboring gene microRNA 4680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2827 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:112678563-112679102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2829 Neighboring gene SHOC2 leucine rich repeat scaffold protein Neighboring gene ribosomal protein L13a pseudogene 6 Neighboring gene microRNA 548e

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). Scheidecker S, et al. J Med Genet, 2014 Feb. PMID 24026985, Free PMC Article
    2. The BBSome. Jin H, et al. Curr Biol, 2009 Jun 23. PMID 19549489
    3. Protein interaction perturbation profiling at amino-acid resolution. Woodsmith J, et al. Nat Methods, 2017 Dec. PMID 29039417
    4. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Jin H, et al. Cell, 2010 Jun 25. PMID 20603001, Free PMC Article
    5. Bardet-Biedl Syndrome Overview. Adam MP, et al. , 1993. PMID 20301537

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of BBIP1 as the 18th BBS gene (BBS18), BBSome assembly may represent a unifying pathomechanism for Bardet-Biedl syndrome.
      Title: Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Bardet-Biedl syndrome 18
    MedGen: C3806174 OMIM: 615995 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ43841

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in eating behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in erythrocyte homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in receptor localization to non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BBSome IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in ciliary membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    BBSome-interacting protein 1
    Names
    BBSome-interacting protein of 10 kDa
    UPF0604 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041778.1 RefSeqGene

      Range
      5187..25637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195304.2 → NP_001182233.1  BBSome-interacting protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AL158163, BC105804
      Consensus CDS
      CCDS55728.1
      UniProtKB/Swiss-Prot
      A8MTZ0
      Related
      ENSP00000433157.1, ENST00000454061.5

    2. NM_001195305.3 → NP_001182234.1  BBSome-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001182234.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region compared to variant 1, which results in a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      BC073157
      Consensus CDS
      CCDS55727.1
      UniProtKB/Swiss-Prot
      A8MTZ0, E9PIY9, E9PM41, E9PRI7
      Related
      ENSP00000436622.2, ENST00000448814.7
      Conserved Domains (1) summary
      pfam14777
      Location:32 → 85
      BBIP10; Cilia BBSome complex subunit 10

    3. NM_001195306.2 → NP_001182235.1  BBSome-interacting protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001182235.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate exon in the 3' coding region compared to variant 1, which results in a frameshift. The resulting protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AK307126, AL158163
      Consensus CDS
      CCDS55727.1
      UniProtKB/Swiss-Prot
      A8MTZ0, E9PIY9, E9PM41, E9PRI7
      Related
      ENSP00000474675.1, ENST00000605742.5
      Conserved Domains (1) summary
      pfam14777
      Location:32 → 85
      BBIP10; Cilia BBSome complex subunit 10

    4. NM_001195307.2 → NP_001182236.1  BBSome-interacting protein 1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate exons in the coding region compared to variant 1 which results in a frameshift. The resulting protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL158163, BC062778
      Consensus CDS
      CCDS55726.1
      UniProtKB/Swiss-Prot
      A8MTZ0
      Related
      ENSP00000432274.1, ENST00000423273.5
      Conserved Domains (1) summary
      pfam14777
      Location:13 → 60
      BBIP10; Cilia BBSome complex subunit 10

    5. NM_001243783.3 → NP_001230712.1  BBSome-interacting protein 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two consecutive exons and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) shares no identity with isoform 1, but has a shorter N-terminus and 100% identity compared to isoform 2.
      Source sequence(s)
      BC073157, BI552279
      Consensus CDS
      CCDS58094.1
      UniProtKB/Swiss-Prot
      A8MTZ0
      Related
      ENSP00000432849.1, ENST00000447005.5
      Conserved Domains (1) summary
      pfam14777
      Location:10 → 63
      BBIP10; Cilia BBSome complex subunit 10

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      110898730..110919366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426005.1 → XP_047281961.1  BBSome-interacting protein 1 isoform X2

      Related
      ENSP00000498552.1, ENST00000651952.1

    2. XM_047426004.1 → XP_047281960.1  BBSome-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8MTZ0, E9PIY9, E9PM41, E9PRI7
      Related
      ENSP00000498430.1, ENST00000652043.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      111782514..111803145 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367168.1 → XP_054223143.1  BBSome-interacting protein 1 isoform X2

    2. XM_054367167.1 → XP_054223142.1  BBSome-interacting protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A8MTZ0, E9PIY9, E9PM41, E9PRI7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MTZ0.2 GenPept UniProtKB/Swiss-Prot:A8MTZ0

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