• Gene id: 84100

Gene Summary

• Gene Symbol: ARL6   Gene   UCSC   Ensembl
• Aliases: BBS3, RP55
• Gene name: ADP ribosylation factor like GTPase 6
• Alternate names: ADP-ribosylation factor-like protein 6, Bardet-Biedl syndrome 3 protein,
• Gene location: 3q11.2 (31546741: 31544443)     Exons: 4     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl
• OMIM: 608845

Protein Summary

• Protein general information: Q9H0F7  
  • Name: ADP ribosylation factor like protein 6 (Bardet Biedl syndrome 3 protein)
  • Length: 186  
  • Mass: 21097
• Sequence:

  MGLLDRLSVLLGLKKKEVHVLCLGLDNSGKTTIINKLKPSNAQSQNILPTIGFSIEKFKSSSLSFTVFDMSGQGR
  YRNLWEHYYKEGQAIIFVIDSSDRLRMVVAKEELDTLLNHPDIKHRRIPILFFANKMDLRDAVTSVKVSQLLCLE
  NIKDKPWHICASDAIKGEGLQEGVDWLQDQIQTVKT

• Structural information:
  • Interpro: IPR041839  IPR027417  IPR005225  IPR006689  
  • Prosite: PS51417
  • CDD: cd04157
  • PDB: 2H57
  • PDBsum: 2H57
  • DIP: 61535
  • STRING: ENSP00000337722
• Other Databases: GeneCards:  ARL6  Malacards:  ARL6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IBA	molecular function
GO:0005930	axoneme	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0061512	protein localization to cilium	IBA	biological process
GO:0060271	cilium assembly	IMP	biological process
GO:0005930	axoneme	ISS	cellular component
GO:0005879	axonemal microtubule	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051258	protein polymerization	ISS	biological process
GO:0030117	membrane coat	ISS	cellular component
GO:0006612	protein targeting to membrane	ISS	biological process
GO:0005543	phospholipid binding	ISS	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0061512	protein localization to cilium	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903445	protein transport from ciliary membrane to plasma membrane	IEA	biological process
GO:0097499	protein localization to non-motile cilium	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0010842	retina layer formation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0008589	regulation of smoothened signaling pathway	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0032402	melanosome transport	ISS	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0007368	determination of left/right symmetry	ISS	biological process
GO:0005929	cilium	IDA	NOT|cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0016055	Wnt signaling pathway	IMP	biological process
GO:0016020	membrane	ISS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Bardet-Biedl syndrome	KEGG:H00418
Retinitis pigmentosa	KEGG:H00527
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	PMID:15314642
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia, Oligozoospermia	MIK: 19478329
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
19478329	Azoospermia, Oligozoospermia	rs9814870	Caucasi an	44 cases	Male infertility	GWAS
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray