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Protein

ADP-ribosylation factor-like protein 6

Gene

ARL6

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

Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity).By similarity3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi31Magnesium1 Publication1
Metal bindingi50Magnesium1 Publication1
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei50GTP1 Publication1
Binding sitei72GTP; via amide nitrogen1 Publication1
Binding sitei164GTP; via amide nitrogen1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi24 – 31GTP1 Publication8
Nucleotide bindingi69 – 73GTPBy similarity5
Nucleotide bindingi130 – 133GTP1 Publication4

<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

  • GTP binding Source: GO_Central
  • metal ion binding Source: UniProtKB-KW
  • phospholipid binding Source: UniProtKB

GO - Biological processi

<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>Keywordsi

Biological processCilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision
LigandGTP-binding, Magnesium, Metal-binding, Nucleotide-binding

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:
ADP-ribosylation factor-like protein 6
Alternative name(s):
Bardet-Biedl syndrome 3 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:ARL6
Synonyms:BBS3
<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 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000113966.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:13210 ARL6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608845 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H0F7

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane

<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 3 (BBS3)3 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.
See also OMIM:600151
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_02764331T → M in BBS3; abrogates the GTP-binding ability without affecting GDP-binding/dissociating properties; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893680EnsemblClinVar.1
Natural variantiVAR_02764431T → R in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893680EnsemblClinVar.1
Natural variantiVAR_07140594I → T in BBS3. 1 PublicationCorresponds to variant dbSNP:rs771054395EnsemblClinVar.1
Natural variantiVAR_027645169G → A in BBS3; abrogates the GTP-binding ability; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893679EnsemblClinVar.1
Natural variantiVAR_027646170L → W in BBS3; abrogates the GTP-binding ability; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893681EnsemblClinVar.1
Retinitis pigmentosa 55 (RP55)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:613575
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06418489A → V in RP55. 1 PublicationCorresponds to variant dbSNP:rs587777805EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
84100

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

More...
GeneReviewsi
ARL6

MalaCards human disease database

More...
MalaCardsi
ARL6
MIMi600151 phenotype
613575 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000113966

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

More...
Orphaneti
110 Bardet-Biedl syndrome
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134931939

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
14547903

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedSequence analysis
<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_00002074722 – 186ADP-ribosylation factor-like protein 6Add BLAST185

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycineSequence analysis1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H0F7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H0F7

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

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PaxDbi
Q9H0F7

PeptideAtlas

More...
PeptideAtlasi
Q9H0F7

PRoteomics IDEntifications database

More...
PRIDEi
Q9H0F7

ProteomicsDB human proteome resource

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ProteomicsDBi
80274
80275 [Q9H0F7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9H0F7

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

More...
PhosphoSitePlusi
Q9H0F7

<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
ENSG00000113966 Expressed in 174 organ(s), highest expression level in primary visual cortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_ARL6

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9H0F7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H0F7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA019361

<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

Interacts with SEC61B, ARL6IP1, ARL6IP2, ARL6IP3, ARL6IP4 ARL6IP5 and ARL6IP6. Interacts (GTP-bound form) with the BBSome a complex that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (GTP-free form) with IFT27.3 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)

More...
BioGridi
123889, 12 interactors

Database of interacting proteins

More...
DIPi
DIP-61535N

Protein interaction database and analysis system

More...
IntActi
Q9H0F7, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000337722

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1186
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9H0F7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9H0F7

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q9H0F7

<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

Belongs to the small GTPase superfamily. Arf family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0070 Eukaryota
COG1100 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156459

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000163691

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG002073

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H0F7

KEGG Orthology (KO)

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KOi
K07951

Identification of Orthologs from Complete Genome Data

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OMAi
IMVPTVG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0MVB

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H0F7

TreeFam database of animal gene trees

More...
TreeFami
TF105466

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR006689 Small_GTPase_ARF/SAR

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00025 Arf, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00328 SAR1GTPBP

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51417 ARF, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H0F7-1) [UniParc]FASTAAdd to basket
Also known as: BBS3

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
MGLLDRLSVL LGLKKKEVHV LCLGLDNSGK TTIINKLKPS NAQSQNILPT
60 70 80 90 100
IGFSIEKFKS SSLSFTVFDM SGQGRYRNLW EHYYKEGQAI IFVIDSSDRL
110 120 130 140 150
RMVVAKEELD TLLNHPDIKH RRIPILFFAN KMDLRDAVTS VKVSQLLCLE
160 170 180
NIKDKPWHIC ASDAIKGEGL QEGVDWLQDQ IQTVKT
Length:186
Mass (Da):21,097
Last modified:March 1, 2001 - v1
<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:i42E37FC7886BF1F0
GO
Isoform 2 (identifier: Q9H0F7-2) [UniParc]FASTAAdd to basket
Also known as: BBS3L

The sequence of this isoform differs from the canonical sequence as follows:
     179-186: DQIQTVKT → EKTIQSDPDCEDMKR

Note: Gene prediction based on EST data.
Show »
Length:193
Mass (Da):21,960
Checksum:i4C6C43101CE360C1
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZ13C9IZ13_HUMAN
ADP-ribosylation factor-like protei...
ARL6
121Annotation 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>
A0A0J9YXT0A0A0J9YXT0_HUMAN
ADP-ribosylation factor-like protei...
ARL6
147Annotation 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>
H7C5H6H7C5H6_HUMAN
ADP-ribosylation factor-like protei...
ARL6
54Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02764331T → M in BBS3; abrogates the GTP-binding ability without affecting GDP-binding/dissociating properties; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893680EnsemblClinVar.1
Natural variantiVAR_02764431T → R in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893680EnsemblClinVar.1
Natural variantiVAR_06418489A → V in RP55. 1 PublicationCorresponds to variant dbSNP:rs587777805EnsemblClinVar.1
Natural variantiVAR_07140594I → T in BBS3. 1 PublicationCorresponds to variant dbSNP:rs771054395EnsemblClinVar.1
Natural variantiVAR_027645169G → A in BBS3; abrogates the GTP-binding ability; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893679EnsemblClinVar.1
Natural variantiVAR_027646170L → W in BBS3; abrogates the GTP-binding ability; increased proteasomal degradation. 3 PublicationsCorresponds to variant dbSNP:rs104893681EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_040511179 – 186DQIQTVKT → EKTIQSDPDCEDMKR in isoform 2. Curated8

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
AL136815 mRNA Translation: CAB66749.1
AK292958 mRNA Translation: BAF85647.1
AC110491 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79880.1
CH471052 Genomic DNA Translation: EAW79881.1
CH471052 Genomic DNA Translation: EAW79882.1
CH471052 Genomic DNA Translation: EAW79883.1
CH471052 Genomic DNA Translation: EAW79884.1
BC024239 mRNA Translation: AAH24239.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2928.1 [Q9H0F7-1]

NCBI Reference Sequences

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RefSeqi
NP_001265222.1, NM_001278293.2 [Q9H0F7-1]
NP_001310442.1, NM_001323513.1 [Q9H0F7-2]
NP_115522.1, NM_032146.5 [Q9H0F7-1]
NP_816931.1, NM_177976.3 [Q9H0F7-1]
XP_016862800.1, XM_017007311.1 [Q9H0F7-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.373801
Hs.682062

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000335979; ENSP00000337722; ENSG00000113966 [Q9H0F7-1]
ENST00000394206; ENSP00000377756; ENSG00000113966 [Q9H0F7-1]
ENST00000463745; ENSP00000419619; ENSG00000113966 [Q9H0F7-1]
ENST00000493990; ENSP00000418057; ENSG00000113966 [Q9H0F7-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84100

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84100

UCSC genome browser

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UCSCi
uc003dru.4 human [Q9H0F7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AL136815 mRNA Translation: CAB66749.1
AK292958 mRNA Translation: BAF85647.1
AC110491 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79880.1
CH471052 Genomic DNA Translation: EAW79881.1
CH471052 Genomic DNA Translation: EAW79882.1
CH471052 Genomic DNA Translation: EAW79883.1
CH471052 Genomic DNA Translation: EAW79884.1
BC024239 mRNA Translation: AAH24239.1
CCDSiCCDS2928.1 [Q9H0F7-1]
RefSeqiNP_001265222.1, NM_001278293.2 [Q9H0F7-1]
NP_001310442.1, NM_001323513.1 [Q9H0F7-2]
NP_115522.1, NM_032146.5 [Q9H0F7-1]
NP_816931.1, NM_177976.3 [Q9H0F7-1]
XP_016862800.1, XM_017007311.1 [Q9H0F7-1]
UniGeneiHs.373801
Hs.682062

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2H57X-ray2.00A/B/C16-186[»]
ProteinModelPortaliQ9H0F7
SMRiQ9H0F7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123889, 12 interactors
DIPiDIP-61535N
IntActiQ9H0F7, 19 interactors
STRINGi9606.ENSP00000337722

PTM databases

iPTMnetiQ9H0F7
PhosphoSitePlusiQ9H0F7

Polymorphism and mutation databases

DMDMi14547903

Proteomic databases

EPDiQ9H0F7
MaxQBiQ9H0F7
PaxDbiQ9H0F7
PeptideAtlasiQ9H0F7
PRIDEiQ9H0F7
ProteomicsDBi80274
80275 [Q9H0F7-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
84100
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335979; ENSP00000337722; ENSG00000113966 [Q9H0F7-1]
ENST00000394206; ENSP00000377756; ENSG00000113966 [Q9H0F7-1]
ENST00000463745; ENSP00000419619; ENSG00000113966 [Q9H0F7-1]
ENST00000493990; ENSP00000418057; ENSG00000113966 [Q9H0F7-1]
GeneIDi84100
KEGGihsa:84100
UCSCiuc003dru.4 human [Q9H0F7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84100
DisGeNETi84100
EuPathDBiHostDB:ENSG00000113966.9

GeneCards: human genes, protein and diseases

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GeneCardsi
ARL6
GeneReviewsiARL6
HGNCiHGNC:13210 ARL6
HPAiHPA019361
MalaCardsiARL6
MIMi600151 phenotype
608845 gene
613575 phenotype
neXtProtiNX_Q9H0F7
OpenTargetsiENSG00000113966
Orphaneti110 Bardet-Biedl syndrome
791 Retinitis pigmentosa
PharmGKBiPA134931939

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0070 Eukaryota
COG1100 LUCA
GeneTreeiENSGT00940000156459
HOGENOMiHOG000163691
HOVERGENiHBG002073
InParanoidiQ9H0F7
KOiK07951
OMAiIMVPTVG
OrthoDBiEOG091G0MVB
PhylomeDBiQ9H0F7
TreeFamiTF105466

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
ARL6 human
EvolutionaryTraceiQ9H0F7

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ARL6

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

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GenomeRNAii
84100

Protein Ontology

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PROi
PR:Q9H0F7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000113966 Expressed in 174 organ(s), highest expression level in primary visual cortex
CleanExiHS_ARL6
ExpressionAtlasiQ9H0F7 baseline and differential
GenevisibleiQ9H0F7 HS

Family and domain databases

InterProiView protein in InterPro
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR006689 Small_GTPase_ARF/SAR
PfamiView protein in Pfam
PF00025 Arf, 1 hit
PRINTSiPR00328 SAR1GTPBP
SUPFAMiSSF52540 SSF52540, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51417 ARF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<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 nameiARL6_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: Q9H0F7
Secondary accession number(s): A8KA93, D3DN31
<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: June 20, 2001
Last sequence update: March 1, 2001
Last modified: December 5, 2018
This is version 169 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

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