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

Gene ID: 92482, updated on 5-Mar-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
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Genomic context

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Location:
10q25.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (110898730..110919366, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (111782514..111803145, complement)
105.20220307 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
  • 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 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 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_2023_10

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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