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Q96RK4

- BBS4_HUMAN

UniProt

Q96RK4 - BBS4_HUMAN

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Protein

Bardet-Biedl syndrome 4 protein

Gene

BBS4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.3 Publications

GO - Molecular functioni

  1. alpha-tubulin binding Source: BHF-UCL
  2. beta-tubulin binding Source: BHF-UCL
  3. dynactin binding Source: BHF-UCL
  4. microtubule motor activity Source: UniProtKB
  5. RNA polymerase II repressing transcription factor binding Source: MGI

GO - Biological processi

  1. adult behavior Source: BHF-UCL
  2. brain morphogenesis Source: BHF-UCL
  3. centrosome organization Source: UniProtKB
  4. cerebral cortex development Source: BHF-UCL
  5. cilium assembly Source: BHF-UCL
  6. cilium morphogenesis Source: BHF-UCL
  7. convergent extension involved in gastrulation Source: BHF-UCL
  8. dendrite development Source: BHF-UCL
  9. fat cell differentiation Source: BHF-UCL
  10. heart looping Source: BHF-UCL
  11. hippocampus development Source: BHF-UCL
  12. intracellular transport Source: BHF-UCL
  13. maintenance of protein location in nucleus Source: BHF-UCL
  14. melanosome transport Source: BHF-UCL
  15. metabolic process Source: GOC
  16. microtubule anchoring at centrosome Source: BHF-UCL
  17. microtubule cytoskeleton organization Source: BHF-UCL
  18. mitotic cytokinesis Source: BHF-UCL
  19. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
  20. negative regulation of gene expression Source: Ensembl
  21. negative regulation of systemic arterial blood pressure Source: Ensembl
  22. neural tube closure Source: BHF-UCL
  23. nonmotile primary cilium assembly Source: BHF-UCL
  24. photoreceptor cell maintenance Source: BHF-UCL
  25. pigment granule aggregation in cell center Source: BHF-UCL
  26. positive regulation of cilium assembly Source: BHF-UCL
  27. positive regulation of multicellular organism growth Source: Ensembl
  28. protein localization to centrosome Source: BHF-UCL
  29. protein localization to organelle Source: BHF-UCL
  30. protein transport Source: UniProtKB-KW
  31. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
  32. regulation of cytokinesis Source: BHF-UCL
  33. regulation of lipid metabolic process Source: BHF-UCL
  34. retina homeostasis Source: BHF-UCL
  35. retinal rod cell development Source: BHF-UCL
  36. sensory perception of smell Source: BHF-UCL
  37. sensory processing Source: BHF-UCL
  38. spermatid development Source: BHF-UCL
  39. striatum development Source: BHF-UCL
  40. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 4 protein
Gene namesi
Name:BBS4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:969. BBS4.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeleton. Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite. Cell projectionciliumflagellum By similarity
Note: Localizes to the pericentriolar region throughout the cell cycle. Centrosomal localization requires dynein.

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. centriolar satellite Source: UniProtKB
  3. centriole Source: BHF-UCL
  4. centrosome Source: UniProtKB
  5. ciliary basal body Source: BHF-UCL
  6. ciliary membrane Source: BHF-UCL
  7. cilium Source: UniProtKB
  8. motile cilium Source: BHF-UCL
  9. nonmotile primary cilium Source: BHF-UCL
  10. pericentriolar material Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti165 – 1651N → H in BBS4. 1 Publication
VAR_017049
Natural varianti295 – 2951R → P in BBS4. 1 Publication
VAR_013170
Natural varianti327 – 3271L → P in BBS4. 1 Publication
VAR_017050
Natural varianti351 – 3511L → R in BBS4. 1 Publication
VAR_038895
Natural varianti364 – 3641A → E in BBS4. 1 Publication
VAR_017051
Natural varianti368 – 3681D → G in BBS4. 1 Publication
VAR_038896
Natural varianti457 – 4571S → I in BBS4. 1 Publication
VAR_017052
Natural varianti472 – 4721M → V in BBS4. 2 Publications
Corresponds to variant rs2277596 [ dbSNP | Ensembl ].
VAR_017053
Natural varianti503 – 5031P → L in BBS4.
VAR_038897

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA25278.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 519519Bardet-Biedl syndrome 4 proteinPRO_0000106263Add
BLAST

Proteomic databases

MaxQBiQ96RK4.
PaxDbiQ96RK4.
PRIDEiQ96RK4.

PTM databases

PhosphoSiteiQ96RK4.

Expressioni

Tissue specificityi

Ubiquitously expressed. The highest level of expression is found in the kidney.

Gene expression databases

BgeeiQ96RK4.
CleanExiHS_BBS4.
ExpressionAtlasiQ96RK4. baseline and differential.
GenevestigatoriQ96RK4.

Organism-specific databases

HPAiHPA039418.

Interactioni

Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with PCM1 and DCTN1. Interacts with DC28B. Interacts with ALDOB and C2CD3.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ALDOBP050624EBI-1805814,EBI-1045507
BBIP1A8MTZ03EBI-1805814,EBI-2892417
BBS1Q8NFJ95EBI-1805814,EBI-1805484
DCTN1Q142033EBI-1805814,EBI-724352
EPAS1Q998142EBI-1805814,EBI-447470
PCM1Q1515416EBI-1805814,EBI-741421

Protein-protein interaction databases

BioGridi107060. 17 interactions.
DIPiDIP-46540N.
IntActiQ96RK4. 36 interactions.
STRINGi9606.ENSP00000268057.

Structurei

3D structure databases

ProteinModelPortaliQ96RK4.
SMRiQ96RK4. Positions 76-429.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati67 – 10034TPR 1Add
BLAST
Repeati101 – 13434TPR 2Add
BLAST
Repeati135 – 16834TPR 3Add
BLAST
Repeati169 – 20133TPR 4Add
BLAST
Repeati203 – 23533TPR 5Add
BLAST
Repeati237 – 26933TPR 6Add
BLAST
Repeati270 – 30334TPR 7Add
BLAST
Repeati304 – 33734TPR 8Add
BLAST
Repeati339 – 37133TPR 9Add
BLAST
Repeati373 – 40836TPR 10Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 6666Required for localization to centrosomesAdd
BLAST
Regioni101 – 337237Interaction with PCM1Add
BLAST
Regioni338 – 519182Required for localization to centrosomesAdd
BLAST

Sequence similaritiesi

Belongs to the BBS4 family.Curated
Contains 10 TPR repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiCOG0457.
GeneTreeiENSGT00530000063455.
HOGENOMiHOG000261391.
HOVERGENiHBG024456.
InParanoidiQ96RK4.
KOiK16531.
OMAiLEFDAEM.
PhylomeDBiQ96RK4.
TreeFamiTF324966.

Family and domain databases

Gene3Di1.25.40.10. 3 hits.
InterProiIPR028786. BBS4.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view]
PANTHERiPTHR23083:SF389. PTHR23083:SF389. 1 hit.
PfamiPF13181. TPR_8. 1 hit.
[Graphical view]
SMARTiSM00028. TPR. 8 hits.
[Graphical view]
PROSITEiPS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96RK4-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA
60 70 80 90 100
CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS
110 120 130 140 150
ADNLKQVARS LFLLGKHKAA IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ
160 170 180 190 200
FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL EGDLDKAIEV YKKAVEFSPE
210 220 230 240 250
NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL AAGSMMQTHG
260 270 280 290 300
DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA
310 320 330 340 350
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN
360 370 380 390 400
LEDIENAKRA YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK
410 420 430 440 450
KVSLLKDNSS LEFDSEMVEM AQKLGAALQV GEALVWTKPV KDPKSKHQTT
460 470 480 490 500
STSKPASFQQ PLGSNQALGQ AMSSAAAYRT LPSGAGGTSQ FTKPPSLPLE
510
PEPAVESSPT ETSEQIREK
Length:519
Mass (Da):58,282
Last modified:October 23, 2007 - v2
Checksum:i59BC9B29355C8E3C
GO
Isoform 2 (identifier: Q96RK4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MAEERVAT → MALTVVPSFSVSGVWK

Note: No experimental confirmation available.

Show »
Length:527
Mass (Da):59,084
Checksum:i09A45FF715582D14
GO
Isoform 3 (identifier: Q96RK4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-172: Missing.

Note: No experimental confirmation available.

Show »
Length:347
Mass (Da):38,282
Checksum:i22AAB3D93C36F0E9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti46 – 461K → R.2 Publications
Corresponds to variant rs75295839 [ dbSNP | Ensembl ].
VAR_038894
Natural varianti61 – 611E → K Found in patients with Bardet-Biedl syndrome carrying mutations in other BBS genes; uncertain pathological role. 1 Publication
VAR_066287
Natural varianti165 – 1651N → H in BBS4. 1 Publication
VAR_017049
Natural varianti268 – 2681E → K.
Corresponds to variant rs11638283 [ dbSNP | Ensembl ].
VAR_028722
Natural varianti295 – 2951R → P in BBS4. 1 Publication
VAR_013170
Natural varianti327 – 3271L → P in BBS4. 1 Publication
VAR_017050
Natural varianti351 – 3511L → R in BBS4. 1 Publication
VAR_038895
Natural varianti354 – 3541I → T.3 Publications
Corresponds to variant rs2277598 [ dbSNP | Ensembl ].
VAR_017054
Natural varianti364 – 3641A → E in BBS4. 1 Publication
VAR_017051
Natural varianti368 – 3681D → G in BBS4. 1 Publication
VAR_038896
Natural varianti393 – 3931A → V.1 Publication
Corresponds to variant rs17852452 [ dbSNP | Ensembl ].
VAR_028723
Natural varianti412 – 4121E → D in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; uncertain pathological role. 1 Publication
Corresponds to variant rs147202164 [ dbSNP | Ensembl ].
VAR_066288
Natural varianti457 – 4571S → I in BBS4. 1 Publication
VAR_017052
Natural varianti472 – 4721M → V in BBS4. 2 Publications
Corresponds to variant rs2277596 [ dbSNP | Ensembl ].
VAR_017053
Natural varianti488 – 4881T → K in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS12; uncertain pathological role. 1 Publication
VAR_066289
Natural varianti503 – 5031P → L in BBS4.
VAR_038897

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 172172Missing in isoform 3. 1 PublicationVSP_047507Add
BLAST
Alternative sequencei1 – 88MAEERVAT → MALTVVPSFSVSGVWK in isoform 2. 1 PublicationVSP_024410

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359281 mRNA. Translation: AAK58868.1.
AY457143 mRNA. Translation: AAS13441.1.
AK075321 mRNA. Translation: BAC11547.1.
AK303706 mRNA. Translation: BAG64690.1.
AC009712 Genomic DNA. No translation available.
BC008923 mRNA. Translation: AAH08923.2.
BC027624 mRNA. Translation: AAH27624.1.
CCDSiCCDS10246.1. [Q96RK4-1]
CCDS58377.1. [Q96RK4-3]
RefSeqiNP_001239607.1. NM_001252678.1. [Q96RK4-3]
NP_149017.2. NM_033028.4. [Q96RK4-1]
UniGeneiHs.208681.

Genome annotation databases

EnsembliENST00000268057; ENSP00000268057; ENSG00000140463. [Q96RK4-1]
ENST00000395205; ENSP00000378631; ENSG00000140463. [Q96RK4-3]
GeneIDi585.
KEGGihsa:585.
UCSCiuc002avb.3. human. [Q96RK4-1]
uc002avd.3. human. [Q96RK4-2]

Polymorphism databases

DMDMi160359000.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the BBS4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359281 mRNA. Translation: AAK58868.1 .
AY457143 mRNA. Translation: AAS13441.1 .
AK075321 mRNA. Translation: BAC11547.1 .
AK303706 mRNA. Translation: BAG64690.1 .
AC009712 Genomic DNA. No translation available.
BC008923 mRNA. Translation: AAH08923.2 .
BC027624 mRNA. Translation: AAH27624.1 .
CCDSi CCDS10246.1. [Q96RK4-1 ]
CCDS58377.1. [Q96RK4-3 ]
RefSeqi NP_001239607.1. NM_001252678.1. [Q96RK4-3 ]
NP_149017.2. NM_033028.4. [Q96RK4-1 ]
UniGenei Hs.208681.

3D structure databases

ProteinModelPortali Q96RK4.
SMRi Q96RK4. Positions 76-429.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107060. 17 interactions.
DIPi DIP-46540N.
IntActi Q96RK4. 36 interactions.
STRINGi 9606.ENSP00000268057.

PTM databases

PhosphoSitei Q96RK4.

Polymorphism databases

DMDMi 160359000.

Proteomic databases

MaxQBi Q96RK4.
PaxDbi Q96RK4.
PRIDEi Q96RK4.

Protocols and materials databases

DNASUi 585.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000268057 ; ENSP00000268057 ; ENSG00000140463 . [Q96RK4-1 ]
ENST00000395205 ; ENSP00000378631 ; ENSG00000140463 . [Q96RK4-3 ]
GeneIDi 585.
KEGGi hsa:585.
UCSCi uc002avb.3. human. [Q96RK4-1 ]
uc002avd.3. human. [Q96RK4-2 ]

Organism-specific databases

CTDi 585.
GeneCardsi GC15P072978.
GeneReviewsi BBS4.
H-InvDB HIX0012411.
HGNCi HGNC:969. BBS4.
HPAi HPA039418.
MIMi 209900. phenotype.
600374. gene.
neXtProti NX_Q96RK4.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA25278.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
GeneTreei ENSGT00530000063455.
HOGENOMi HOG000261391.
HOVERGENi HBG024456.
InParanoidi Q96RK4.
KOi K16531.
OMAi LEFDAEM.
PhylomeDBi Q96RK4.
TreeFami TF324966.

Miscellaneous databases

GeneWikii BBS4.
GenomeRNAii 585.
NextBioi 2391.
PROi Q96RK4.
SOURCEi Search...

Gene expression databases

Bgeei Q96RK4.
CleanExi HS_BBS4.
ExpressionAtlasi Q96RK4. baseline and differential.
Genevestigatori Q96RK4.

Family and domain databases

Gene3Di 1.25.40.10. 3 hits.
InterProi IPR028786. BBS4.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
[Graphical view ]
PANTHERi PTHR23083:SF389. PTHR23083:SF389. 1 hit.
Pfami PF13181. TPR_8. 1 hit.
[Graphical view ]
SMARTi SM00028. TPR. 8 hits.
[Graphical view ]
PROSITEi PS50005. TPR. 8 hits.
PS50293. TPR_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT BBS4 PRO-295.
  2. "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)."
    Ye X., Dai J., Fang W., Jin W., Guo Y., Song J., Ji C., Gu S., Xie Y., Mao Y.
    DNA Seq. 15:213-218(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT THR-354.
    Tissue: Kidney.
  4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-393.
    Tissue: Testis and Uterus.
  6. Cited for: INTERACTION WITH CCDC28B.
  7. "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
    Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
    Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION.
  8. Cited for: INTERACTION WITH ALDOB.
  9. "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance."
    Katsanis N., Eichers E.R., Ansley S.J., Lewis R.A., Kayserili H., Hoskins B.E., Scambler P.J., Beales P.L., Lupski J.R.
    Am. J. Hum. Genet. 71:22-29(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BBS4 HIS-165; PRO-327; GLU-364 AND ILE-457.
  10. "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression."
    Kim J.C., Badano J.L., Sibold S., Esmail M.A., Hill J., Hoskins B.E., Leitch C.C., Venner K., Ansley S.J., Ross A.J., Leroux M.R., Katsanis N., Beales P.L.
    Nat. Genet. 36:462-470(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH DCTN1 AND PCM1, SUBCELLULAR LOCATION.
  11. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
    Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
    PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, INTERACTION WITH LZTL1.
  12. "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome."
    Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B., Mein C.A., Froguel P., Scambler P.J., Lewis R.A., Lupski J.R., Katsanis N.
    Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BBS4 VAL-472.
  13. "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique."
    Hoskins B.E., Thorn A., Scambler P.J., Beales P.L.
    Hum. Mutat. 22:151-157(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BBS4 VAL-472.
  14. Cited for: VARIANT BBS4 GLY-368, VARIANTS ARG-46 AND THR-354.
  15. Cited for: VARIANT BBS4 ARG-351, VARIANT THR-354.
  16. Cited for: VARIANTS ARG-46; LYS-61; ASP-412 AND LYS-488.

Entry informationi

Entry nameiBBS4_HUMAN
AccessioniPrimary (citable) accession number: Q96RK4
Secondary accession number(s): B4E178
, Q53DZ5, Q8NHU9, Q96H45
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: October 23, 2007
Last modified: October 29, 2014
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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