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Gene

BBIP1

BBSome interacting protein 1

Summary

Cytogenetic location
10q25.2
Coordinates
Chromosome 10: 110,898,730–110,919,180 (GRCh38)
Exons
4 exons across 20.5 kb
Protein
92 amino acids
Inheritance
Autosomal recessive
Also known as
bA348N5.3, BBIP10, BBS18
Previous symbols
NCRNA00081
MANE Select transcript
ENST00000448814.7NM_001195305.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Bardet-Biedl and Alström Syndromes

    • Bardet-Biedl syndromeAutosomal recessive

      A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How BBIP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 10, with a bracket where BBIP1 sits. BBIP1 and 6 genes near it on chromosome 10, from 110,408,955 to 111,408,954.Chromosome 1010q25.2p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3110.6 Mb110.8 Mb111 Mb111.2 Mb111.4 MbDUSP5: 110,497,907–110,511,544, forward strandDUSP5SMC3: 110,567,668–110,606,063, forward strandSMC3RBM20: 110,643,874–110,839,471, forward strandRBM20PDCD4: 110,871,790–110,900,013, forward strandPDCD4BBIP1: 110,898,730–110,919,180, reverse strandBBIP1SHOC2: 110,917,932–111,017,314, forward strandSHOC2ADRA2A: 111,077,029–111,080,907, forward strandADRA2ADiagram of BBIP1: 4 exons on the reverse strand of chromosome 10Exon 4: 110,898,730–110,900,526, 1,797 basesExon 3: 110,901,538–110,901,612, 75 basesExon 2: 110,918,121–110,918,213, 93 basesExon 1: 110,919,121–110,919,180, 60 bases43215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2 kb of the gene's 20.5 kb; 279 of those bases code for the protein.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). BBIP1 gene: BBSome interacting protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/bbip1

Vancouver

Dante Labs. BBIP1 gene: BBSome interacting protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bbip1

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