BBS10

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BBS10
Identifiers
Aliases BBS10 , C12orf58, Bardet-Biedl syndrome 10
External IDs OMIM: 610148 MGI: 1919019 HomoloGene: 49781 GeneCards: BBS10
Orthologs
SpeciesHumanMouse
Entrez

79738

71769

Ensembl

ENSG00000179941

ENSMUSG00000035759

UniProt

Q8TAM1

Q9DBI2

RefSeq (mRNA)

NM_024685

NM_027914

RefSeq (protein)

NP_078961

NP_082190

Location (UCSC) Chr 12: 76.34 – 76.35 Mb Chr 10: 111.3 – 111.3 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Bardet–Biedl syndrome 10, also known as BBS10 is a human gene. [5]

Contents

Function

The Bardet-Biedl syndrome 10 protein has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. [6] [7]

Clinical significance

Mutations in this gene are associated with the Bardet–Biedl syndrome. [5]

Related Research Articles

Bardet–Biedl syndrome Medical condition

Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.

LAT2

Linker for activation of T-cells family member 2 is a protein that in humans is encoded by the LAT2 gene.

40S ribosomal protein S4, Y isoform 1

40S ribosomal protein S4, Y isoform 1 is a protein that in humans is encoded by the RPS4Y1 gene.

MKKS

McKusick–Kaufman/Bardet–Biedl syndromes putative chaperonin is a protein that in humans is encoded by the MKKS gene.

BBS1

Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene. BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form of Bardet–Biedl syndrome.

BBS5

Bardet–Biedl syndrome 5 protein is a protein that in humans is encoded by the BBS5 gene.

ARL6 Mammalian protein found in Homo sapiens

ADP-ribosylation factor-like protein 6 is a protein that in humans is encoded by the ARL6 gene.

BBS2

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.

BBS4

Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the BBS4 gene.

TRIM32

Tripartite motif-containing protein 32 is a protein that in humans is encoded by the TRIM32 gene. Since its discovery in 1995, TRIM32 has been shown to be implicated in a number of diverse biological pathways.

DYM

Dymeclin is a protein that in humans is encoded by the DYM gene.

FGD3

FYVE, RhoGEF and PH domain-containing protein 3 is a protein that in humans is encoded by the FGD3 gene.

ZNF330

Zinc finger protein 330 is a protein that in humans is encoded by the ZNF330 gene.

CCDC28B

Coiled-coil domain-containing protein 28B is a protein that in humans is encoded by the CCDC28B gene.

TTC8

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

BBS7

Bardet–Biedl syndrome 7 is a protein that in humans is encoded by the BBS7 gene.

BBS9

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.

BBS12

Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.

MKS1

Meckel syndrome, type 1 also known as MKS1 is a protein that in humans is encoded by the MKS1 gene.

The BBSome is an octameric protein complex. It is a component of the basal body and is involved in trafficking cargos to the primary cilium. The BBSome is a complex of seven Bardet–Biedl syndrome (BBS) proteins: BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. In addition the BBSome contains the BBIP10 protein. Mutation in each of this eight BBSome genes causes a severe multiorganic syndrome (BBS) presenting in most cases by retinal dystrophy, obesity, renal anomalies, post-axial polydactyly, and developmental delay.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000179941 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035759 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H (May 2006). "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus". Nat. Genet. 38 (5): 521–4. doi:10.1038/ng1771. PMID   16582908. S2CID   32269156.
  6. ↑ "Entrez Gene: Bardet-Biedl syndrome 10".
  7. ↑ Maruyama, K; Sugano, S (28 January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.

Further reading


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