BBS7 Bardet-Biedl syndrome 7 [Homo sapiens (human)]
| Gene Symbol | BBS7 |
| Entrez Gene ID | 55212 |
| Full Name | Bardet-Biedl syndrome 7 |
| Synonyms | BBS2L1, FLJ10715 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
4 4q27 |
| Summary | This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene. |
| Disorder | MIM: 607590 Bardet-Biedl syndrome 7, 209900 (3) |
| mRNA | NM_176824, 324073523 |
| Protein | NP_789794, 29029557 |
| Product | Bardet-Biedl syndrome 7 protein isoform a |
| RefSeq Status | REVIEWED |
| mRNA | NM_018190, 324073529 |
| Protein | NP_060660, 29029555 |
| Product | Bardet-Biedl syndrome 7 protein isoform b |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | BBS7 | NP_789794.1 |
| Canis lupus familiaris (dog) | BBS7 | XP_533301.2 |
| Bos taurus (cattle) | BBS7 | XP_001789801.1 |
| Mus musculus (house mouse) | Bbs7 | NP_082086.1 |
| Rattus norvegicus (Norway rat) | Bbs7 | NP_001012180.1 |
| Danio rerio (zebrafish) | bbs7 | NP_001070613.1 |
| Caenorhabditis elegans | osm-12 | NP_499585.1 |
| ID | Name | Evidence |
| GO:0001947 | heart looping | ISS |
| GO:0007368 | determination of left/right symmetry | ISS |
| GO:0007601 | visual perception | IEA |
| GO:0032402 | melanosome transport | ISS |
| GO:0045444 | fat cell differentiation | ISS |
| GO:0048546 | digestive tract morphogenesis | ISS |
| GO:0050896 | response to stimulus | IEA |
| GO:0051877 | pigment granule aggregation in cell center | ISS |
| GO:0060271 | cilium morphogenesis | ISS |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IEA |
| GO:0005886 | plasma membrane | IEA |
| GO:0005929 | cilium | IEA |
| GO:0034464 | BBSome | IDA |
| GO:0060170 | cilium membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0005515 | protein binding | IPI |
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