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Q6ZW61

- BBS12_HUMAN

UniProt

Q6ZW61 - BBS12_HUMAN

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Protein

Bardet-Biedl syndrome 12 protein

Gene

BBS12

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

Functioni

Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.2 Publications

GO - Molecular functioni

  1. ATP binding Source: InterPro

GO - Biological processi

  1. cellular protein metabolic process Source: InterPro
  2. chaperone-mediated protein complex assembly Source: MGI
  3. eating behavior Source: Ensembl
  4. intraciliary transport Source: Ensembl
  5. negative regulation of fat cell differentiation Source: MGI
  6. photoreceptor cell maintenance Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Bardet-Biedl syndrome 12 protein
Gene namesi
Name:BBS12
Synonyms:C4orf24
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:26648. BBS12.

Subcellular locationi

Cell projectioncilium 1 Publication
Note: Located within the basal body of the primary cilium of differentiating preadipocytes.

GO - Cellular componenti

  1. cilium Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 12 (BBS12) [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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti88 – 881L → R in BBS12. 1 Publication
VAR_066266
Natural varianti113 – 1131Missing in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034920
Natural varianti159 – 1591P → L in BBS12; pathogenicity uncertain; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034922
Natural varianti289 – 2891A → P in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034926
Natural varianti293 – 2931Q → E in BBS12. 1 Publication
VAR_066269
Natural varianti346 – 3461I → T in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_062964
Natural varianti355 – 3551R → Q in BBS12. 1 Publication
VAR_066270
Natural varianti400 – 4001V → M in BBS12. 1 Publication
VAR_066271
Natural varianti501 – 5011T → M in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 2 Publications
VAR_062965
Natural varianti511 – 5133Missing in BBS12. 1 Publication
VAR_066273
Natural varianti525 – 5251R → H in BBS12. 1 Publication
VAR_066275
Natural varianti539 – 5391G → D in BBS12. 1 Publication
VAR_066276
Natural varianti540 – 5401G → V in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034932
Natural varianti674 – 6741R → C in BBS12. 1 Publication
VAR_066277

Keywords - Diseasei

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

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA162377350.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 710710Bardet-Biedl syndrome 12 proteinPRO_0000301981Add
BLAST

Proteomic databases

PaxDbiQ6ZW61.
PRIDEiQ6ZW61.

PTM databases

PhosphoSiteiQ6ZW61.

Expressioni

Gene expression databases

BgeeiQ6ZW61.
CleanExiHS_BBS12.
ExpressionAtlasiQ6ZW61. baseline and differential.
GenevestigatoriQ6ZW61.

Interactioni

Subunit structurei

Component of the BBS/CCT complex composed at least of MKKS, BBS10, BBS12, TCP1, CCT2, CCT3, CCT4, CCT5 AND CCT8.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
BBS10Q8TAM15EBI-6128352,EBI-6128013
BBS7Q8IWZ66EBI-6128352,EBI-1806001
BBS9Q3SYG42EBI-6128352,EBI-2826852
MKKSQ9NPJ110EBI-6128352,EBI-721319

Protein-protein interaction databases

DIPiDIP-60348N.
IntActiQ6ZW61. 7 interactions.
STRINGi9606.ENSP00000319062.

Structurei

3D structure databases

ProteinModelPortaliQ6ZW61.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG39264.
GeneTreeiENSGT00390000008984.
HOGENOMiHOG000294113.
HOVERGENiHBG107495.
InParanoidiQ6ZW61.
OMAiHESVLIS.
OrthoDBiEOG7T1RB6.
PhylomeDBiQ6ZW61.
TreeFamiTF330844.

Family and domain databases

Gene3Di1.10.560.10. 2 hits.
3.50.7.10. 1 hit.
InterProiIPR002423. Cpn60/TCP-1.
IPR027409. GroEL-like_apical_dom.
IPR027413. GROEL-like_equatorial.
[Graphical view]
PANTHERiPTHR11353. PTHR11353. 1 hit.
PfamiPF00118. Cpn60_TCP1. 2 hits.
[Graphical view]
SUPFAMiSSF48592. SSF48592. 2 hits.
SSF52029. SSF52029. 1 hit.

Sequencei

Sequence statusi: Complete.

Q6ZW61-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MVMACRVVNK RRHMGLQQLS SFAETGRTFL GPLKSSKFII DEECHESVLI
60 70 80 90 100
SSTVRLLESL DLTSAVGQLL NEAVQAQNNT YRTGISTLLF LVGAWSSAVE
110 120 130 140 150
ECLHLGVPIS IIVSVMSEGL NFCSEEVVSL HVPVHNIFDC MDSTKTFSQL
160 170 180 190 200
ETFSVSLCPF LQVPSDTDLI EELHGLKDVA SQTLTISNLS GRPLKSYELF
210 220 230 240 250
KPQTKVEADN NTSRTLKNSL LADTCCRQSI LIHSRHFNRT DNTEGVSKPD
260 270 280 290 300
GFQEHVTATH KTYRCNDLVE LAVGLSHGDH SSMKLVEEAV QLQYQNACVQ
310 320 330 340 350
QGNCTKPFMF DISRIFTCCL PGLPETSSCV CPGYITVVSV SNNPVIKELQ
360 370 380 390 400
NQPVRIVLIE GDLTENYRHL GFNKSANIKT VLDSMRLQED SSEELWANHV
410 420 430 440 450
LQVLIQFKVN LVLVQGNVSE RLIEKCINSK RLVIGSVNGS VMQAFAEAAG
460 470 480 490 500
AVQVAYITQV NEDCVGDGVC VTFWRSSPLD VVDRNNRIAI LLKTEGINLV
510 520 530 540 550
TAVLTNPVTA QMQIKEDRFW TCAYRLYYAL KEEKVFLGGG AVEFLCLSCL
560 570 580 590 600
HILAEQSLKK ENHACSGWLH NTSSWLASSL AIYRPTVLKF LANGWQKYLS
610 620 630 640 650
TLLYNTANYS SEFEASTYIQ HHLQNATDSG SPSSYILNEY SKLNSRIFNS
660 670 680 690 700
DISNKLEQIP RVYDVVTPKI EAWRRALDLV LLVLQTDSEI ITGHGHTQIN
710
SQELTGFLFL
Length:710
Mass (Da):79,085
Last modified:May 18, 2010 - v2
Checksum:iF441A12526A23B40
GO

Sequence cautioni

The sequence BAC04006.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti462 – 4621E → G in CAD98035. (PubMed:17974005)Curated
Sequence conflicti597 – 5971K → R in BAC04006. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti39 – 391I → T.3 Publications
Corresponds to variant rs138036823 [ dbSNP | Ensembl ].
VAR_034919
Natural varianti88 – 881L → R in BBS12. 1 Publication
VAR_066266
Natural varianti113 – 1131Missing in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034920
Natural varianti119 – 1191G → S Associated with H-263 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. 1 Publication
Corresponds to variant rs77731085 [ dbSNP | Ensembl ].
VAR_066267
Natural varianti126 – 1261E → D.
Corresponds to variant rs309369 [ dbSNP | Ensembl ].
VAR_034921
Natural varianti159 – 1591P → L in BBS12; pathogenicity uncertain; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034922
Natural varianti170 – 1701I → V.1 Publication
VAR_034923
Natural varianti195 – 1951K → R.1 Publication
Corresponds to variant rs17854892 [ dbSNP | Ensembl ].
VAR_034924
Natural varianti238 – 2381N → K.
Corresponds to variant rs17006082 [ dbSNP | Ensembl ].
VAR_034925
Natural varianti263 – 2631Y → H Associated with S-119 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. 1 Publication
Corresponds to variant rs150040166 [ dbSNP | Ensembl ].
VAR_066268
Natural varianti289 – 2891A → P in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034926
Natural varianti293 – 2931Q → E in BBS12. 1 Publication
VAR_066269
Natural varianti346 – 3461I → T in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_062964
Natural varianti355 – 3551R → Q in BBS12. 1 Publication
VAR_066270
Natural varianti386 – 3861R → Q.4 Publications
Corresponds to variant rs309370 [ dbSNP | Ensembl ].
VAR_034927
Natural varianti400 – 4001V → M in BBS12. 1 Publication
VAR_066271
Natural varianti408 – 4081K → R in a patient with Bardet-Biedl syndrome compound heterozygote for BBS2 mutations; uncertain pathological role. 1 Publication
VAR_066272
Natural varianti429 – 4291S → T.
Corresponds to variant rs7665271 [ dbSNP | Ensembl ].
VAR_034928
Natural varianti461 – 4611N → H.
Corresponds to variant rs10027479 [ dbSNP | Ensembl ].
VAR_034929
Natural varianti467 – 4671D → N.2 Publications
Corresponds to variant rs13135778 [ dbSNP | Ensembl ].
VAR_034930
Natural varianti484 – 4841R → K.
Corresponds to variant rs35690634 [ dbSNP | Ensembl ].
VAR_034931
Natural varianti501 – 5011T → M in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 2 Publications
VAR_062965
Natural varianti511 – 5133Missing in BBS12. 1 Publication
VAR_066273
Natural varianti524 – 5241Y → C in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role. 1 Publication
VAR_066274
Natural varianti525 – 5251R → H in BBS12. 1 Publication
VAR_066275
Natural varianti539 – 5391G → D in BBS12. 1 Publication
VAR_066276
Natural varianti540 – 5401G → V in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation. 1 Publication
VAR_034932
Natural varianti615 – 6151A → V.1 Publication
Corresponds to variant rs17857451 [ dbSNP | Ensembl ].
VAR_034933
Natural varianti674 – 6741R → C in BBS12. 1 Publication
VAR_066277

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK092949 mRNA. Translation: BAC04006.1. Different initiation.
AK123553 mRNA. Translation: BAC85644.1.
BX538148 mRNA. Translation: CAD98035.1.
AC053545 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX05223.1.
CH471056 Genomic DNA. Translation: EAX05224.1.
BC055426 mRNA. Translation: AAH55426.1.
CCDSiCCDS3728.1.
RefSeqiNP_001171478.1. NM_001178007.1.
NP_689831.2. NM_152618.2.
UniGeneiHs.400698.

Genome annotation databases

EnsembliENST00000314218; ENSP00000319062; ENSG00000181004.
ENST00000542236; ENSP00000438273; ENSG00000181004.
GeneIDi166379.
KEGGihsa:166379.
UCSCiuc003ieu.3. human.

Polymorphism databases

DMDMi296434408.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK092949 mRNA. Translation: BAC04006.1 . Different initiation.
AK123553 mRNA. Translation: BAC85644.1 .
BX538148 mRNA. Translation: CAD98035.1 .
AC053545 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX05223.1 .
CH471056 Genomic DNA. Translation: EAX05224.1 .
BC055426 mRNA. Translation: AAH55426.1 .
CCDSi CCDS3728.1.
RefSeqi NP_001171478.1. NM_001178007.1.
NP_689831.2. NM_152618.2.
UniGenei Hs.400698.

3D structure databases

ProteinModelPortali Q6ZW61.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

DIPi DIP-60348N.
IntActi Q6ZW61. 7 interactions.
STRINGi 9606.ENSP00000319062.

PTM databases

PhosphoSitei Q6ZW61.

Polymorphism databases

DMDMi 296434408.

Proteomic databases

PaxDbi Q6ZW61.
PRIDEi Q6ZW61.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000314218 ; ENSP00000319062 ; ENSG00000181004 .
ENST00000542236 ; ENSP00000438273 ; ENSG00000181004 .
GeneIDi 166379.
KEGGi hsa:166379.
UCSCi uc003ieu.3. human.

Organism-specific databases

CTDi 166379.
GeneCardsi GC04P123653.
GeneReviewsi BBS12.
H-InvDB HIX0018635.
HGNCi HGNC:26648. BBS12.
MIMi 209900. phenotype.
610683. gene.
neXtProti NX_Q6ZW61.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA162377350.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG39264.
GeneTreei ENSGT00390000008984.
HOGENOMi HOG000294113.
HOVERGENi HBG107495.
InParanoidi Q6ZW61.
OMAi HESVLIS.
OrthoDBi EOG7T1RB6.
PhylomeDBi Q6ZW61.
TreeFami TF330844.

Miscellaneous databases

GeneWikii BBS12.
GenomeRNAii 166379.
NextBioi 88593.
PROi Q6ZW61.
SOURCEi Search...

Gene expression databases

Bgeei Q6ZW61.
CleanExi HS_BBS12.
ExpressionAtlasi Q6ZW61. baseline and differential.
Genevestigatori Q6ZW61.

Family and domain databases

Gene3Di 1.10.560.10. 2 hits.
3.50.7.10. 1 hit.
InterProi IPR002423. Cpn60/TCP-1.
IPR027409. GroEL-like_apical_dom.
IPR027413. GROEL-like_equatorial.
[Graphical view ]
PANTHERi PTHR11353. PTHR11353. 1 hit.
Pfami PF00118. Cpn60_TCP1. 2 hits.
[Graphical view ]
SUPFAMi SSF48592. SSF48592. 2 hits.
SSF52029. SSF52029. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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], VARIANTS GLN-386 AND ASN-467.
    Tissue: Spleen and Tongue.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-386.
    Tissue: Fetal kidney.
  3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLN-386.
  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], VARIANTS ARG-195; GLN-386; ASN-467 AND VAL-615.
    Tissue: Brain.
  6. "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation."
    Marion V., Stoetzel C., Schlicht D., Messaddeq N., Koch M., Flori E., Danse J.M., Mandel J.-L., Dollfus H.
    Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  7. "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."
    Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., Sheffield V.C.
    Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, IDENTIFICATION IN BBS/CCT COMPLEX, CHARACTERIZATION OF VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540.
  8. "Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome."
    Stoetzel C., Muller J., Laurier V., Davis E.E., Zaghloul N.A., Vicaire S., Jacquelin C., Plewniak F., Leitch C.C., Sarda P., Hamel C., de Ravel T.J., Lewis R.A., Friederich E., Thibault C., Danse J.-M., Verloes A., Bonneau D.
    , Katsanis N., Poch O., Mandel J.-L., Dollfus H.
    Am. J. Hum. Genet. 80:1-11(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BBS12 VAL-113 DEL; LEU-159; PRO-289; THR-346; MET-501 AND VAL-540, VARIANTS THR-39 AND VAL-170.
  9. "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."
    Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.
    Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BBS12 511-GLN--GLN-513 DEL, VARIANTS THR-39; ARG-408 AND CYS-524.
  10. Cited for: VARIANTS THR-39; SER-119 AND HIS-263, VARIANTS BBS12 ARG-88; GLU-293; GLN-355; MET-400; MET-501; HIS-525; ASP-539 AND CYS-674.

Entry informationi

Entry nameiBBS12_HUMAN
AccessioniPrimary (citable) accession number: Q6ZW61
Secondary accession number(s): D3DNX5
, Q7Z342, Q7Z482, Q8NAB8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 92 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

Miscellaneous

Adipocytes derived from BBS-patients' dermal fibroblasts in culture exhibit higher propensity for fat accumulation when compared to controls. This strongly suggests that a peripheral primary dysfunction of adipogenesis participates to the pathogenesis of obesity in BBS.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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

Dasty 3