ARL6 - ADP ribosylation factor like GTPase 6 Gene

Homo sapiens

Also known as BBS3; RP55

Gene ID: 84100 | Gene type: protein coding

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

ARL6 Protein Structure

Arf

0
100
186 a.a.

Protein Preferred Names

Protein Names

ADP-ribosylation factor-like protein 6

Bardet-Biedl syndrome 3 protein

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

Bioactive Molecules (5)

Cat. No.	Product Name	Purity	Rare Diseases
HY-RS00993	ARL6 Human Pre-designed siRNA Set A	/	Unkown
HY-RS00994	ARL6IP1 Human Pre-designed siRNA Set A	/	Unkown
HY-RS00995	ARL6IP4 Human Pre-designed siRNA Set A	/	Unkown
HY-RS00996	ARL6IP5 Human Pre-designed siRNA Set A	/	Unkown
HY-RS00997	ARL6IP6 Human Pre-designed siRNA Set A	/	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

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