BBS4 - Bardet-Biedl syndrome 4 Gene
生物種: Homo sapiens
About BBS4
This gene has 18 transcripts (splice variants), 210 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 12.7), prostate (RPKM 9.9) and 25 other tissues.
Summary
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in Plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven Other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
BBS4 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001252678.2 | NP_001239607.1 | Bardet-Biedl syndrome 4 protein isoform 2 |
| NM_001320665.2 | NP_001307594.1 | Bardet-Biedl syndrome 4 protein isoform 3 |
| NM_033028.5 | NP_149017.2 | Bardet-Biedl syndrome 4 protein isoform 1 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables RNA polymerase II-specific DNA-binding transcription factor binding |
IPI
IPI: Inferred from physical interaction
|
22302990 | GOA |
| enables alpha-tubulin binding |
IDA
IDA: Inferred from direct assay
|
17574030 | GOA |
| enables beta-tubulin binding |
IDA
IDA: Inferred from direct assay
|
17574030 | GOA |
| enables dynactin binding |
IDA
IDA: Inferred from direct assay
|
15107855 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15107855 | GOA |
| enables protein-macromolecule adaptor activity |
IMP
IMP: Inferred from mutant phenotype
|
15107855 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in centrosome cycle |
IMP
IMP: Inferred from mutant phenotype
|
15107855 | GOA |
| involved in maintenance of protein location in nucleus |
IGI
IGI: Inferred from genetic interaction
|
15107855 | GOA |
| involved in microtubule anchoring at centrosome |
IMP
IMP: Inferred from mutant phenotype
|
15107855 | GOA |
| involved in mitotic cytokinesis |
IMP
IMP: Inferred from mutant phenotype
|
15107855 | GOA |
| involved in protein localization to centrosome |
IMP
IMP: Inferred from mutant phenotype
|
15107855 | GOA |
| involved in protein localization to cilium |
IMP
IMP: Inferred from mutant phenotype
|
23943788 | GOA |
| involved in regulation of cytokinesis |
IMP
IMP: Inferred from mutant phenotype
|
15107855 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| part of BBSome |
IDA
IDA: Inferred from direct assay
|
17574030 | GOA |
| part of BBSome |
IPI
IPI: Inferred from physical interaction
|
19081074 | GOA |
| located in centriolar satellite |
IDA
IDA: Inferred from direct assay
|
15107855 | GOA |
| located in centriole |
IDA
IDA: Inferred from direct assay
|
15107855 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
14520415 | GOA |
| located in ciliary basal body |
IDA
IDA: Inferred from direct assay
|
15107855 | GOA |
| located in ciliary membrane |
IDA
IDA: Inferred from direct assay
|
17574030 | GOA |
| located in ciliary transition zone |
IDA
IDA: Inferred from direct assay
|
23943788 | GOA |
| located in cilium |
IDA
IDA: Inferred from direct assay
|
23943788 | GOA |
| located in motile cilium |
IDA
IDA: Inferred from direct assay
|
18299575 | GOA |
| located in non-motile cilium |
IDA
IDA: Inferred from direct assay
|
17574030 | GOA |
| located in pericentriolar material |
IDA
IDA: Inferred from direct assay
|
15107855 | GOA |
BBS4 Protein Structure
TPR_11: TPR repeat (100 - 165)
TPR_11: TPR repeat (170 - 233)
TPR_11: TPR repeat (272 - 335)
TPR_8: Tetratricopeptide repeat (339 - 371)
- 0
- 100
- 200
- 300
- 400
- 519 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
Bardet-Biedl syndrome 4 protein |
|
BBS4 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
BBS4 | Q96RK4 | REL | Homo sapiens | Q04864-2 | 26871637 | |
|
Intra
|
BBS4 | Q96RK4 | REL | Homo sapiens | Q04864-2 | 26871637 | |
|
Intra
|
BBS4 | Q96RK4 | REL | Homo sapiens | Q04864-2 | 26871637 | |
|
Intra
|
BBS4 | Q96RK4 | PLP1 | Homo sapiens | P60201-2 | 32814053 | |
|
Intra
|
BBS4 | Q96RK4 | PLP1 | Homo sapiens | P60201-2 | 32814053 | |
|
Intra
|
BBS4 | Q96RK4 | PLP1 | Homo sapiens | P60201-2 | 32814053 | |
|
Intra
|
BBS4 | Q96RK4 | BBS1 | Homo sapiens | Q8NFJ9 | 27173435 | |
|
Intra
|
BBS4 | Q96RK4 | BBS1 | Homo sapiens | Q8NFJ9 | 19081074 | |
|
Intra
|
BBS4 | Q96RK4 | BBS1 | Homo sapiens | Q8NFJ9 | 17574030 | |
|
Intra
|
BBS4 | Q96RK4 | BBS1 | Homo sapiens | Q8NFJ9 | 17574030 | |
|
Intra
|
BBS4 | Q96RK4 | IQCB1 | Homo sapiens | Q15051 | 25552655 | |
|
Intra
|
BBS4 | Q96RK4 | BBS9 | Homo sapiens | Q3SYG4 | 27173435 | |
|
Intra
|
BBS4 | Q96RK4 | BBS9 | Homo sapiens | Q3SYG4 | 17574030 | |
|
Intra
|
BBS4 | Q96RK4 | BBS9 | Homo sapiens | Q3SYG4 | 19081074 | |
|
Intra
|
BBS4 | Q96RK4 | BBIP1 | Homo sapiens | A8MTZ0 | 29039417 | |
|
Intra
|
BBS4 | Q96RK4 | BBIP1 | Homo sapiens | A8MTZ0 | 29039417 | |
|
Intra
|
BBS4 | Q96RK4 | BBIP1 | Homo sapiens | A8MTZ0 | 19081074 | |
|
Intra
|
BBS4 | Q96RK4 | BBIP1 | Homo sapiens | A8MTZ0 | 19081074 | |
|
Intra
|
BBS4 | Q96RK4 | BBIP1 | Homo sapiens | A8MTZ0 | 19081074 | |
|
Intra
|
BBS4 | Q96RK4 | MYOG | Homo sapiens | P15173 | 25416956 | |
|
Intra
|
BBS4 | Q96RK4 | P4HB | Homo sapiens | P07237 | 32814053 | |
|
Intra
|
BBS4 | Q96RK4 | P4HB | Homo sapiens | P07237 | 32814053 | |
|
Intra
|
BBS4 | Q96RK4 | P4HB | Homo sapiens | P07237 | 32814053 | |
|
Intra
|
BBS4 | Q96RK4 | EPAS1 | Homo sapiens | Q99814 | 18000879 | |
|
Intra
|
BBS4 | Q96RK4 | DCTN1 | Homo sapiens | Q14203 | 15107855 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 17574030 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 17574030 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 15107855 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 19081074 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 15107855 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 15107855 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 22500027 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 18000879 | |
|
Intra
|
BBS4 | Q96RK4 | PCM1 | Homo sapiens | Q15154 | 18772192 |
BBS4 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P810831 | BBS4 Antibody (YA10074) | WB | Human, Mouse, Rat |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Bardet-Biedl Syndrome 4 |
|
|
| Bardet-Biedl Syndrome |
|
|
| Cone-Rod Dystrophy 2 |
|
|
| Retinitis Pigmentosa |
|
|
| Polydactyly |
|
|
| Mckusick-Kaufman Syndrome |
|
|
| Developmental And Epileptic Encephalopathy 43 |
|
|
| Bardet-Biedl Syndrome 18 |
|
|
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
|
| Fundus Dystrophy |
|
|
| Bardet-Biedl Syndrome 11 |
|
|
| Night Blindness, Congenital Stationary, Autosomal Dominant 3 |
|
|
| Meckel Syndrome, Type 1 |
|
|
| Joubert Syndrome 26 |
|
|
| Retinal Degeneration |
|
|
| Bardet-Biedl Syndrome 6 |
|
|
| Bardet-Biedl Syndrome 19 |
|
|
| Orofaciodigital Syndrome I |
|
|
| Orofaciodigital Syndrome |
|
|
| Bardet-Biedl Syndrome 10 |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Bardet-Biedl Syndrome 1 |
|
|
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Acrocallosal Syndrome |
|
|
| Senior-Loken Syndrome 1 |
|
|
| Heart Disease |
|
|
| Nephronophthisis |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Cranioectodermal Dysplasia |
|
|
| Tetralogy Of Fallot |
|
|
| Cystic Kidney Disease |
|
|
| Cone Dystrophy |
|
|
| Eye Degenerative Disease |
|
|
| Asphyxiating Thoracic Dystrophy |
|
|
| Joubert Syndrome 1 |
|
|
| Visceral Heterotaxy |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Situs Inversus |
|
|
| Polycystic Kidney Disease |
|
|
| Leber Plus Disease |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Mus musculus | BBS4 | MGD | MGI:2143311 |
| Rattus norvegicus | BBS4 | RGD | RGD:1309134 |