ARL6 - ADP ribosylation factor like GTPase 6 Gene

Also Known as BBS3; RP55

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84100

About ARL6

Cytogenetic location: 3q11.2 Genomic coordinates (GRCh38): 3:97,764,521-97,801,242 (from NCBI)

This gene has 8 transcripts (splice variants), 259 orthologues, 30 paralogues and is associated with 9 phenotypes. Broad expression in testis (RPKM 2.3), brain (RPKM 1.6) and 24 other tissues.

Summary

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 syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]

ARL6 Products (5)

mRNA Protein Name
NM_001278293.3 NP_001265222.1 ADP-ribosylation factor-like protein 6 isoform 1
NM_001323513.2 NP_001310442.1 ADP-ribosylation factor-like protein 6 isoform BB3SL
NM_001323514.2 NP_001310443.1 ADP-ribosylation factor-like protein 6 isoform 2
NM_032146.5 NP_115522.1 ADP-ribosylation factor-like protein 6 isoform 1
NM_177976.3 NP_816931.1 ADP-ribosylation factor-like protein 6 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
20603001 GOA
Biological Process GO Annotation Evidence Références Source
involved in Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
20207729 GOA
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
20207729 GOA
acts upstream of or within protein localization to cilium IMP
IMP: Inferred from mutant phenotype
22139371 GOA
Cellular Component GO Annotation Evidence Références Source
NOT located in cilium IDA
IDA: Inferred from direct assay
17646400 GOA
located in cilium IDA
IDA: Inferred from direct assay
22139371 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARL6 Protein Structure

Arf

Arf: ADP-ribosylation factor family (11 - 181)

  • 0
  • 100
  • 186 a.a.
Protein Preferred Names Protein Names

ADP-ribosylation factor-like protein 6

  • Bardet-Biedl syndrome 3 protein

ARL6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ARL6 Q9H0F7 BBS1 Homo sapiens Q8NFJ9
Pull Down
20603001
Intra
ARL6 Q9H0F7 BBS1 Homo sapiens Q8NFJ9
Anti Tag CoIP
22139371
Intra
ARL6 Q9H0F7 BBS1 Homo sapiens Q8NFJ9
IF
20603001
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Bardet-Biedl Syndrome 3

  • BBS3

  • Bardet-Biedl Syndrome, Type 3
Retinitis Pigmentosa 55

  • RP55

  • Retinitis Pigmentosa, Type 55
Bardet-Biedl Syndrome 1

  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome
Retinitis Pigmentosa

  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1
Bardet-Biedl Syndrome

  • Bbs

  • Biedl-Bardet Syndrome
Cone-Rod Dystrophy 2

  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy
Eye Disease

  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy
Mckusick-Kaufman Syndrome

  • MKKS

  • Hydrometrocolpos, Postaxial Polydactyly, And Congenital Heart Malformation

  • Hmcs

  • Kaufman-Mckusick Syndrome

  • Hydrometrocolpos Syndrome

  • Hydrometrocolpos-Postaxial Polydactyly Syndrome

  • Kaufman Mckusick Syndrome

  • Mckusick Kaufman Syndrome

  • Mks
Bartter Syndrome, Type 1, Antenatal

  • Hyperprostaglandin E Syndrome 1

  • Bartter Disease Type 1

  • BARTS1

  • Bartter Syndrome, Type 1

  • Bartter Syndrome Type 1

  • Hypokalemic Alkalosis With Hypercalciuria Antenatal 1

  • Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal

  • Bartter Syndrome Type 1 Antenatal

  • Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal

  • Bartter Syndrome Antenatal Type 1

  • Antenatal Bartter Syndrome Type 1

  • Bartter Syndrome Type I

  • Bartter Syndrome 1, Antenatal

  • Abs1

  • Antenatal Bartter Syndrome 1

  • Bs1

  • Bartter Syndrome, Antenatal Type 1

  • Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Polydactyly

  • Non-Syndromic Polydactyly

  • Polydactyly, Postaxial

  • Postaxial Polydactyly

  • Supernumerary Digit

  • Extra Digits

  • Hyperdactyly

  • Polydactylia

  • Polydactylism

  • Supernumerary Digits
Bardet-Biedl Syndrome 11

  • BBS11

  • Bardet-Biedl Syndrome

  • Bbs

  • Bardet-Biedl Syndrome, Type 11
Hematuria, Benign Familial

  • Benign Familial Hematuria

  • BFH

  • Thin Membrane Nephropathy

  • Tmn

  • Thin Basement Membrane Nephropathy

  • Thin-Basement-Membrane Nephropathy

  • Hematuria, Familial Benign

  • Hematuria Benign Familial

  • Hematuria, Benign, Familial

  • Thin Basement Membrane Disease
Fundus Dystrophy

  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS00995 ARL6IP4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00993 ARL6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00994 ARL6IP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00996 ARL6IP5 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS00997 ARL6IP6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18720 Arl6ip6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20693 Arl6 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21227 Arl6ip1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25207 Arl6ip6 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27204 Arl6 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27744 Arl6ip1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus ARL6 MGD MGI:1927136
Felis catus ARL6 VGNC VGNC:59927
Bos taurus ARL6 VGNC VGNC:26149
Rattus norvegicus ARL6 RGD RGD:1305535
Canis familiaris ARL6 VGNC VGNC:38118
Others ARL6 NCBI