1. Gene
  2. Bbs4 - Bardet-Biedl syndrome 4 (human) Gene

Bbs4 - Bardet-Biedl syndrome 4 (human) Gene

种属: Mus musculus

同用名: D9Ertd464e

基因 ID: 102774 | 基因类型: protein coding

关于 Bbs4

功能概要

Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; cytoskeletal protein binding activity; and protein-macromolecule adaptor activity. Involved in several processes, including cilium assembly; negative regulation of appetite by leptin-mediated signaling pathway; and regulation of cilium beat frequency involved in ciliary motility. Acts upstream of or within several processes, including fat pad development; nervous system development; and regulation of organelle organization. Located in several cellular components, including centriolar satellite; photoreceptor cell cilium; and photoreceptor inner segment. Part of BBSome. Is expressed in several structures, including brain; cardiovascular system; eye; genitourinary system; and gut. Used to study Bardet-Biedl syndrome 4 and obesity. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4). [provided by Alliance of Genome Resources, Apr 2022]

Bbs4 基因产物(7)

mRNA Protein Name
NM_001359558.2 NP_001346487.1 Bardet-Biedl syndrome 4 protein homolog isoform 2
NM_001411791.1 NP_001398720.1 Bardet-Biedl syndrome 4 protein homolog isoform 3
NM_001411793.1 NP_001398722.1 Bardet-Biedl syndrome 4 protein homolog isoform 4
NM_001411794.1 NP_001398723.1 Bardet-Biedl syndrome 4 protein homolog isoform 5
NM_001411795.1 NP_001398724.1 Bardet-Biedl syndrome 4 protein homolog isoform 5
NM_001411796.1 NP_001398725.1 Bardet-Biedl syndrome 4 protein homolog isoform 5
NM_175325.4 NP_780534.1 Bardet-Biedl syndrome 4 protein homolog isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
17574030 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within B cell homeostasis IMP
IMP: 通过突变表型推断
33426789 MGI
acts upstream of or within Wnt signaling pathway IMP
IMP: 通过突变表型推断
27687499 MGI
acts upstream of or within adipose tissue development IMP
IMP: 通过突变表型推断
33426789 MGI
acts upstream of or within adult behavior IMP
IMP: 通过突变表型推断
15539463 MGI
acts upstream of or within brain morphogenesis IMP
IMP: 通过突变表型推断
18032602 MGI
acts upstream of or within cerebral cortex development IMP
IMP: 通过突变表型推断
18032602 MGI
acts upstream of cilium assembly IMP
IMP: 通过突变表型推断
15173597 MGI
involved in cilium assembly IMP
IMP: 通过突变表型推断
18299575 MGI
acts upstream of or within dendrite development IMP
IMP: 通过突变表型推断
15322545 MGI
acts upstream of or within erythrocyte homeostasis IMP
IMP: 通过突变表型推断
27687499 MGI
acts upstream of or within face development IMP
IMP: 通过突变表型推断
18443298 MGI
involved in fat cell differentiation IEP
IEP: 通过表达模式推断
17379567 MGI
acts upstream of or within fat pad development IMP
IMP: 通过突变表型推断
16794820 MGI
acts upstream of gene expression IMP
IMP: 通过突变表型推断
18317593 MGI
acts upstream of or within gene expression IMP
IMP: 通过突变表型推断
27687499 MGI
acts upstream of or within hippocampus development IMP
IMP: 通过突变表型推断
18032602 MGI
acts upstream of or within homeostasis of number of cells IMP
IMP: 通过突变表型推断
33426789 MGI
acts upstream of or within leptin-mediated signaling pathway IMP
IMP: 通过突变表型推断
19150989 MGI
acts upstream of or within leukocyte homeostasis IMP
IMP: 通过突变表型推断
27687499 MGI
acts upstream of or within lymphocyte homeostasis IMP
IMP: 通过突变表型推断
27687499 MGI
acts upstream of or within microtubule cytoskeleton organization IMP
IMP: 通过突变表型推断
15322545 MGI
acts upstream of or within myeloid cell homeostasis IMP
IMP: 通过突变表型推断
27687499 MGI
acts upstream of or within negative regulation of GTPase activity IMP
IMP: 通过突变表型推断
23716571 MGI
acts upstream of or within negative regulation of actin filament polymerization IMP
IMP: 通过突变表型推断
23716571 MGI
involved in negative regulation of appetite by leptin-mediated signaling pathway IMP
IMP: 通过突变表型推断
19150989 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: 通过突变表型推断
18317593 MGI
acts upstream of or within negative regulation of systemic arterial blood pressure IMP
IMP: 通过突变表型推断
18317593 MGI
acts upstream of or within neural tube closure IMP
IMP: 通过突变表型推断
16170314 MGI
acts upstream of or within neuron migration IGI
IGI: 通过遗传相互作用推断
18762586 MGI
acts upstream of or within neuron migration IMP
IMP: 通过突变表型推断
18762586 MGI
NOT involved in non-motile cilium assembly IMP
IMP: 通过突变表型推断
18334641 MGI
acts upstream of or within non-motile cilium assembly IMP
IMP: 通过突变表型推断
15322545 MGI
acts upstream of or within photoreceptor cell maintenance IGI
IGI: 通过遗传相互作用推断
23943788 MGI
acts upstream of or within photoreceptor cell maintenance IMP
IMP: 通过突变表型推断
16794820 MGI
acts upstream of or within photoreceptor cell outer segment organization IMP
IMP: 通过突变表型推断
23178122 MGI
acts upstream of or within positive regulation of cilium assembly IMP
IMP: 通过突变表型推断
15173597 MGI
acts upstream of or within positive regulation of multicellular organism growth IMP
IMP: 通过突变表型推断
18317593 MGI
acts upstream of or within protein localization IMP
IMP: 通过突变表型推断
22228099 MGI
involved in protein localization to organelle IDA
IDA: 通过直接分析推断
18334641 MGI
acts upstream of or within protein localization to photoreceptor outer segment IMP
IMP: 通过突变表型推断
18022666 MGI
involved in regulation of cilium beat frequency involved in ciliary motility IMP
IMP: 通过突变表型推断
18299575 MGI
acts upstream of or within regulation of lipid metabolic process IMP
IMP: 通过突变表型推断
15173597 MGI
acts upstream of or within regulation of non-motile cilium assembly IMP
IMP: 通过突变表型推断
17519557 MGI
acts upstream of or within regulation of stress fiber assembly IMP
IMP: 通过突变表型推断
23716571 MGI
acts upstream of or within response to leptin IMP
IMP: 通过突变表型推断
18317593 MGI
acts upstream of or within retina homeostasis IMP
IMP: 通过突变表型推断
15173597 MGI
acts upstream of or within retinal rod cell development IMP
IMP: 通过突变表型推断
15173597 MGI
acts upstream of or within sensory perception of smell IMP
IMP: 通过突变表型推断
15322545 MGI
acts upstream of or within social behavior IMP
IMP: 通过突变表型推断
16794820 MGI
acts upstream of or within sperm flagellum assembly IMP
IMP: 通过突变表型推断
33426789 MGI
acts upstream of or within spermatid development IMP
IMP: 通过突变表型推断
15173597 MGI
acts upstream of or within striatum development IMP
IMP: 通过突变表型推断
18032602 MGI
acts upstream of or within ventricular system development IMP
IMP: 通过突变表型推断
24695551 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of BBSome IDA
IDA: 通过直接分析推断
20080638 MGI
located in centriolar satellite IDA
IDA: 通过直接分析推断
24469809 MGI
located in centrosome IDA
IDA: 通过直接分析推断
15649943 MGI
located in membrane IDA
IDA: 通过直接分析推断
22139371 MGI
located in motile cilium IMP
IMP: 通过突变表型推断
18299575 MGI
located in photoreceptor connecting cilium IDA
IDA: 通过直接分析推断
23943788 MGI
located in photoreceptor inner segment IDA
IDA: 通过直接分析推断
18022666 MGI
located in photoreceptor outer segment IDA
IDA: 通过直接分析推断
23943788 MGI
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断
蛋白主名 其他名称

Bardet-Biedl syndrome 4 protein homolog

Bardet-Biedl syndrome 4 homolog

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Bbs4 NCBI NCBI:585