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Entry version 137 (13 Nov 2019)
Sequence version 2 (18 May 2010)
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Protein

Bardet-Biedl syndrome 12 protein

Gene

BBS12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184).2 Publications

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 in the pathogenesis of obesity in BBS.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Bardet-Biedl syndrome 12 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BBS12
Synonyms:C4orf24
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26648 BBS12

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610683 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZW61

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cilium

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Bardet-Biedl syndrome 12 (BBS12)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06626688L → R in BBS12. 1 PublicationCorresponds to variant dbSNP:rs746271266Ensembl.1
Natural variantiVAR_034920113Missing 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 Publications1
Natural variantiVAR_034922159P → L in BBS12; unknown pathological significance; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. 2 PublicationsCorresponds to variant dbSNP:rs1450190654EnsemblClinVar.1
Natural variantiVAR_034926289A → 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. 2 PublicationsCorresponds to variant dbSNP:rs121918328EnsemblClinVar.1
Natural variantiVAR_066269293Q → E in BBS12. 1 Publication1
Natural variantiVAR_062964346I → 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. 2 PublicationsCorresponds to variant dbSNP:rs1553941373EnsemblClinVar.1
Natural variantiVAR_066270355R → Q in BBS12. 1 PublicationCorresponds to variant dbSNP:rs1474900361Ensembl.1
Natural variantiVAR_066271400V → M in BBS12. 1 PublicationCorresponds to variant dbSNP:rs771136797EnsemblClinVar.1
Natural variantiVAR_062965501T → 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. 3 PublicationsCorresponds to variant dbSNP:rs138011813EnsemblClinVar.1
Natural variantiVAR_066273511 – 513Missing in BBS12. 1 Publication3
Natural variantiVAR_066275525R → H in BBS12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776730549EnsemblClinVar.1
Natural variantiVAR_066276539G → D in BBS12. 1 Publication1
Natural variantiVAR_034932540G → 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. 2 PublicationsCorresponds to variant dbSNP:rs1010403072EnsemblClinVar.1
Natural variantiVAR_066277674R → C in BBS12. 1 PublicationCorresponds to variant dbSNP:rs759088490EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
166379

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
BBS12

MalaCards human disease database

More...
MalaCardsi
BBS12
MIMi615989 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000181004

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
110 Bardet-Biedl syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162377350

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6ZW61

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
BBS12

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296434408

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003019811 – 710Bardet-Biedl syndrome 12 proteinAdd BLAST710

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q6ZW61

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q6ZW61

PeptideAtlas

More...
PeptideAtlasi
Q6ZW61

PRoteomics IDEntifications database

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PRIDEi
Q6ZW61

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
68466

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q6ZW61

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6ZW61

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000181004 Expressed in 151 organ(s), highest expression level in sperm

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q6ZW61 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZW61 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA061856

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the chaperonin-containing T-complex (TRiC), a heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter (PubMed:20080638).

Interacts with MKKS (PubMed:26900326).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127928, 6 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q6ZW61

Database of interacting proteins

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DIPi
DIP-60348N

Protein interaction database and analysis system

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IntActi
Q6ZW61, 15 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000438273

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IVI6 Eukaryota
ENOG410Z0I5 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000008984

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000294113

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZW61

KEGG Orthology (KO)

More...
KOi
K19402

Identification of Orthologs from Complete Genome Data

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OMAi
TCAYRLY

Database of Orthologous Groups

More...
OrthoDBi
429087at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZW61

TreeFam database of animal gene trees

More...
TreeFami
TF330844

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.560.10, 2 hits
3.30.260.10, 1 hit
3.50.7.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR042984 BBS12
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR027410 TCP-1-like_intermed_sf

The PANTHER Classification System

More...
PANTHERi
PTHR46883 PTHR46883, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00118 Cpn60_TCP1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48592 SSF48592, 1 hit
SSF52029 SSF52029, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF441A12526A23B40
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J8H7C9J8H7_HUMAN
Bardet-Biedl syndrome 12 protein
BBS12
191Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAC04006 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti462E → G in CAD98035 (PubMed:17974005).Curated1
Sequence conflicti597K → R in BAC04006 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03491939I → T3 PublicationsCorresponds to variant dbSNP:rs138036823EnsemblClinVar.1
Natural variantiVAR_06626688L → R in BBS12. 1 PublicationCorresponds to variant dbSNP:rs746271266Ensembl.1
Natural variantiVAR_034920113Missing 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 Publications1
Natural variantiVAR_066267119G → S Associated with H-263 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. 1 PublicationCorresponds to variant dbSNP:rs77731085EnsemblClinVar.1
Natural variantiVAR_034921126E → D. Corresponds to variant dbSNP:rs309369EnsemblClinVar.1
Natural variantiVAR_034922159P → L in BBS12; unknown pathological significance; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation. 2 PublicationsCorresponds to variant dbSNP:rs1450190654EnsemblClinVar.1
Natural variantiVAR_034923170I → V1 PublicationCorresponds to variant dbSNP:rs1218692709Ensembl.1
Natural variantiVAR_034924195K → R1 PublicationCorresponds to variant dbSNP:rs17854892Ensembl.1
Natural variantiVAR_034925238N → K. Corresponds to variant dbSNP:rs17006082EnsemblClinVar.1
Natural variantiVAR_066268263Y → H Associated with S-119 in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10. 1 PublicationCorresponds to variant dbSNP:rs150040166EnsemblClinVar.1
Natural variantiVAR_034926289A → 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. 2 PublicationsCorresponds to variant dbSNP:rs121918328EnsemblClinVar.1
Natural variantiVAR_066269293Q → E in BBS12. 1 Publication1
Natural variantiVAR_062964346I → 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. 2 PublicationsCorresponds to variant dbSNP:rs1553941373EnsemblClinVar.1
Natural variantiVAR_066270355R → Q in BBS12. 1 PublicationCorresponds to variant dbSNP:rs1474900361Ensembl.1
Natural variantiVAR_034927386R → Q4 PublicationsCorresponds to variant dbSNP:rs309370EnsemblClinVar.1
Natural variantiVAR_066271400V → M in BBS12. 1 PublicationCorresponds to variant dbSNP:rs771136797EnsemblClinVar.1
Natural variantiVAR_066272408K → R in a patient with Bardet-Biedl syndrome compound heterozygote for BBS2 mutations; unknown pathological significance. 1 Publication1
Natural variantiVAR_034928429S → T. Corresponds to variant dbSNP:rs7665271EnsemblClinVar.1
Natural variantiVAR_034929461N → H. Corresponds to variant dbSNP:rs10027479EnsemblClinVar.1
Natural variantiVAR_034930467D → N2 PublicationsCorresponds to variant dbSNP:rs13135778EnsemblClinVar.1
Natural variantiVAR_034931484R → K. Corresponds to variant dbSNP:rs35690634EnsemblClinVar.1
Natural variantiVAR_062965501T → 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. 3 PublicationsCorresponds to variant dbSNP:rs138011813EnsemblClinVar.1
Natural variantiVAR_066273511 – 513Missing in BBS12. 1 Publication3
Natural variantiVAR_066274524Y → C in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770746493EnsemblClinVar.1
Natural variantiVAR_066275525R → H in BBS12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs776730549EnsemblClinVar.1
Natural variantiVAR_066276539G → D in BBS12. 1 Publication1
Natural variantiVAR_034932540G → 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. 2 PublicationsCorresponds to variant dbSNP:rs1010403072EnsemblClinVar.1
Natural variantiVAR_034933615A → V1 PublicationCorresponds to variant dbSNP:rs17857451Ensembl.1
Natural variantiVAR_066277674R → C in BBS12. 1 PublicationCorresponds to variant dbSNP:rs759088490EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3728.1

NCBI Reference Sequences

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RefSeqi
NP_001171478.1, NM_001178007.1
NP_689831.2, NM_152618.2
XP_011529982.1, XM_011531680.2
XP_016863320.1, XM_017007831.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000314218; ENSP00000319062; ENSG00000181004
ENST00000542236; ENSP00000438273; ENSG00000181004

Database of genes from NCBI RefSeq genomes

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GeneIDi
166379

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:166379

UCSC genome browser

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UCSCi
uc003ieu.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
XP_011529982.1, XM_011531680.2
XP_016863320.1, XM_017007831.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi127928, 6 interactors
CORUMiQ6ZW61
DIPiDIP-60348N
IntActiQ6ZW61, 15 interactors
STRINGi9606.ENSP00000438273

PTM databases

iPTMnetiQ6ZW61
PhosphoSitePlusiQ6ZW61

Polymorphism and mutation databases

BioMutaiBBS12
DMDMi296434408

Proteomic databases

MassIVEiQ6ZW61
PaxDbiQ6ZW61
PeptideAtlasiQ6ZW61
PRIDEiQ6ZW61
ProteomicsDBi68466

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
166379
DisGeNETi166379

GeneCards: human genes, protein and diseases

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GeneCardsi
BBS12
GeneReviewsiBBS12
HGNCiHGNC:26648 BBS12
HPAiHPA061856
MalaCardsiBBS12
MIMi610683 gene
615989 phenotype
neXtProtiNX_Q6ZW61
OpenTargetsiENSG00000181004
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA162377350

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IVI6 Eukaryota
ENOG410Z0I5 LUCA
GeneTreeiENSGT00390000008984
HOGENOMiHOG000294113
InParanoidiQ6ZW61
KOiK19402
OMAiTCAYRLY
OrthoDBi429087at2759
PhylomeDBiQ6ZW61
TreeFamiTF330844

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
BBS12 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BBS12

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
166379
PharosiQ6ZW61

Protein Ontology

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PROi
PR:Q6ZW61

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000181004 Expressed in 151 organ(s), highest expression level in sperm
ExpressionAtlasiQ6ZW61 baseline and differential
GenevisibleiQ6ZW61 HS

Family and domain databases

Gene3Di1.10.560.10, 2 hits
3.30.260.10, 1 hit
3.50.7.10, 1 hit
InterProiView protein in InterPro
IPR042984 BBS12
IPR002423 Cpn60/TCP-1
IPR027409 GroEL-like_apical_dom_sf
IPR027413 GROEL-like_equatorial_sf
IPR027410 TCP-1-like_intermed_sf
PANTHERiPTHR46883 PTHR46883, 1 hit
PfamiView protein in Pfam
PF00118 Cpn60_TCP1, 1 hit
SUPFAMiSSF48592 SSF48592, 1 hit
SSF52029 SSF52029, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBBS12_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6ZW61
Secondary accession number(s): D3DNX5
, Q7Z342, Q7Z482, Q8NAB8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: November 13, 2019
This is version 137 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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