2. Gene
  3. ARL6 - ADP ribosylation factor like GTPase 6 Gene

ARL6 - ADP ribosylation factor like GTPase 6 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ADP 核糖基化因子样 GTPase 6

种属: Homo sapiens

同用名: BBS3; RP55

基因 ID: 84100 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质属于 GTP 结合蛋白 ARF 家族的 ARF 样 (ADP 核糖基化因子样) 亚家族，参与细胞内交通的调节。该基因的突变与 Bardet-Biedl 综合征 (BBS) 相关。已经描述了编码长亚型 BBS3L 的视觉特定转录物 (PMID: 20333246) 。[RefSeq 提供，2016 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
20603001 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Wnt signaling pathway IMP
IMP: 通过突变表型推断
20207729 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
20207729 GOA
acts upstream of or within protein localization to cilium IMP
IMP: 通过突变表型推断
22139371 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT located in cilium IDA
IDA: 通过直接分析推断
17646400 GOA
located in cilium IDA
IDA: 通过直接分析推断
22139371 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ARL6 蛋白结构

Arf

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

  • 0
  • 100
  • 186 a.a.
蛋白主名 其他名称

ADP-ribosylation factor-like protein 6

Bardet-Biedl syndrome 3 protein

ARL6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ARL6 Q9H0F7 BBS1 Homo sapiens Q8NFJ9
Pull Down
20603001
种属内
ARL6 Q9H0F7 BBS1 Homo sapiens Q8NFJ9
Anti Tag CoIP
22139371
种属内
ARL6 Q9H0F7 BBS1 Homo sapiens Q8NFJ9
IF
20603001
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00995 ARL6IP4 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00993 ARL6 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00994 ARL6IP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00996 ARL6IP5 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00997 ARL6IP6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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