BBS4 | ENSG00000140463 | NCBI 585

Details for: BBS4

Gene ID: 585

Symbol: BBS4

Ensembl ID: ENSG00000140463

Description: Bardet-Biedl syndrome 4

Associated with

Bbsome-mediated cargo-targeting to cilium
(R-HSA-5620922)
Cargo trafficking to the periciliary membrane
(R-HSA-5620920)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Adult behavior
(GO:0030534)
Alpha-tubulin binding
(GO:0043014)
Bbsome
(GO:0034464)
Beta-tubulin binding
(GO:0048487)
Brain morphogenesis
(GO:0048854)
Centriolar satellite
(GO:0034451)
Centriole
(GO:0005814)
Centrosome
(GO:0005813)
Centrosome cycle
(GO:0007098)
Cerebral cortex development
(GO:0021987)
Ciliary basal body
(GO:0036064)
Ciliary membrane
(GO:0060170)
Ciliary transition zone
(GO:0035869)
Cilium
(GO:0005929)
Cilium assembly
(GO:0060271)
Cytosol
(GO:0005829)
Dendrite development
(GO:0016358)
Dynactin binding
(GO:0034452)
Face development
(GO:0060324)
Fat cell differentiation
(GO:0045444)
Fat pad development
(GO:0060613)
Gene expression
(GO:0010467)
Hippocampus development
(GO:0021766)
Maintenance of protein location in nucleus
(GO:0051457)
Microtubule anchoring at centrosome
(GO:0034454)
Microtubule cytoskeleton organization
(GO:0000226)
Mitotic cytokinesis
(GO:0000281)
Motile cilium
(GO:0031514)
Negative regulation of actin filament polymerization
(GO:0030837)
Negative regulation of appetite by leptin-mediated signaling pathway
(GO:0038108)
Negative regulation of gene expression
(GO:0010629)
Negative regulation of systemic arterial blood pressure
(GO:0003085)
Neural tube closure
(GO:0001843)
Neuron migration
(GO:0001764)
Non-motile cilium
(GO:0097730)
Non-motile cilium assembly
(GO:1905515)
Nucleus
(GO:0005634)
Pericentriolar material
(GO:0000242)
Photoreceptor cell maintenance
(GO:0045494)
Photoreceptor cell outer segment organization
(GO:0035845)
Photoreceptor connecting cilium
(GO:0032391)
Photoreceptor inner segment
(GO:0001917)
Photoreceptor outer segment
(GO:0001750)
Positive regulation of cilium assembly
(GO:0045724)
Positive regulation of multicellular organism growth
(GO:0040018)
Protein-macromolecule adaptor activity
(GO:0030674)
Protein binding
(GO:0005515)
Protein localization to centrosome
(GO:0071539)
Protein localization to cilium
(GO:0061512)
Protein localization to organelle
(GO:0033365)
Protein localization to photoreceptor outer segment
(GO:1903546)
Protein transport
(GO:0015031)
Regulation of cilium beat frequency involved in ciliary motility
(GO:0060296)
Regulation of cytokinesis
(GO:0032465)
Regulation of lipid metabolic process
(GO:0019216)
Regulation of non-motile cilium assembly
(GO:1902855)
Regulation of stress fiber assembly
(GO:0051492)
Retina homeostasis
(GO:0001895)
Retinal rod cell development
(GO:0046548)
Rna polymerase ii-specific dna-binding transcription factor binding
(GO:0061629)
Sensory perception of smell
(GO:0007608)
Sensory processing
(GO:0050893)
Social behavior
(GO:0035176)
Spermatid development
(GO:0007286)
Striatum development
(GO:0021756)
Ventricular system development
(GO:0021591)
Visual perception
(GO:0007601)

Other Information

Proteins

Bardet-Biedl syndrome 4 protein

Genular Protein ID: 3787677986

Symbol: BBS4_HUMAN

Name: Bardet-Biedl syndrome 4 protein

UniProtKB Accession Codes:

Q96RK4 B4E178 Q53DZ5 Q8NHU9 Q96H45

Database IDs:

Citations:

PubMed ID: 11381270

Title: Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

PubMed ID: 11381270

DOI: 10.1038/88925

PubMed ID: 15497446

Title: Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4).

PubMed ID: 15497446

DOI: 10.1080/10425170410001679165

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16327777

Title: Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

PubMed ID: 16327777

DOI: 10.1038/nature04370

PubMed ID: 17574030

Title: A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

PubMed ID: 17574030

DOI: 10.1016/j.cell.2007.03.053

PubMed ID: 18000879

Title: Novel interaction partners of Bardet-Biedl syndrome proteins.

PubMed ID: 18000879

DOI: 10.1002/cm.20250

PubMed ID: 23943788

Title: BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

PubMed ID: 23943788

DOI: 10.1093/hmg/ddt394

PubMed ID: 24939912

Title: Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

PubMed ID: 24939912

DOI: 10.1093/hmg/ddu267

PubMed ID: 15107855

Title: The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

PubMed ID: 15107855

DOI: 10.1038/ng1352

PubMed ID: 22072986

Title: A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

PubMed ID: 22072986

DOI: 10.1371/journal.pgen.1002358

PubMed ID: 33144677

Title: Dlec1 is required for spermatogenesis and male fertility in mice.

PubMed ID: 33144677

DOI: 10.1038/s41598-020-75957-y

PubMed ID: 12016587

Title: BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

PubMed ID: 12016587

DOI: 10.1086/341031

PubMed ID: 12677556

Title: Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PubMed ID: 12677556

DOI: 10.1086/375178

PubMed ID: 12872256

Title: Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

PubMed ID: 12872256

DOI: 10.1002/humu.10241

PubMed ID: 15666242

Title: Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

PubMed ID: 15666242

DOI: 10.1086/428679

PubMed ID: 15770229

Title: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PubMed ID: 15770229

DOI: 10.1038/sj.ejhg.5201372

PubMed ID: 21344540

Title: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PubMed ID: 21344540

DOI: 10.1002/humu.21480

Sequence Information:

Length: 519
Mass: 58282
Checksum: 59BC9B29355C8E3C
Sequence:

MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ 
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA 
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL 
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL 
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA 
YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM 
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT 
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: BBS4

Associated with

Other Information

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. PubMed ID: 11381270

Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4). PubMed ID: 15497446

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

Analysis of the DNA sequence and duplication history of human chromosome 15. PubMed ID: 16572171

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Dissection of epistasis in oligogenic Bardet-Biedl syndrome. PubMed ID: 16327777

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. PubMed ID: 17574030

Novel interaction partners of Bardet-Biedl syndrome proteins. PubMed ID: 18000879

BBS mutations modify phenotypic expression of CEP290-related ciliopathies. PubMed ID: 23943788

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. PubMed ID: 24939912

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. PubMed ID: 15107855

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PubMed ID: 22072986

Dlec1 is required for spermatogenesis and male fertility in mice. PubMed ID: 33144677

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. PubMed ID: 12016587

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. PubMed ID: 12677556

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. PubMed ID: 12872256

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. PubMed ID: 15666242

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. PubMed ID: 15770229

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. PubMed ID: 21344540