• Gene id: 403

Gene Summary

• Gene Symbol: ARL3   Gene   UCSC   Ensembl
• Aliases: ARFL3, JBTS35, RP83
• Gene name: ADP ribosylation factor like GTPase 3
• Alternate names: ADP-ribosylation factor-like protein 3, ADP-ribosylation factor-like 3, ARF-like 3,
• Gene location: 10q24.32 (102714396: 102673730)     Exons: 7     NC_000010.11
• Gene summary(Entrez): ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
• OMIM: 604695

SNPs

rs759992

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs3827527

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs1164594027

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

Protein Summary

• Protein general information: P36405  
  • Name: ADP ribosylation factor like protein 3
  • Length: 182  
  • Mass: 20456
  • Tissue specificity: Expressed in the retina. Strongly expressed in connecting cilium, the myoid region of the inner segments (IS) and in cone photoreceptors (at protein level). {ECO
• Sequence:

  MGLLSILRKLKSAPDQEVRILLLGLDNAGKTTLLKQLASEDISHITPTQGFNIKSVQSQGFKLNVWDIGGQRKIR
  PYWKNYFENTDILIYVIDSADRKRFEETGQELAELLEEEKLSCVPVLIFANKQDLLTAAPASEIAEGLNLHTIRD
  RVWQIQSCSALTGEGVQDGMNWVCKNVNAKKK

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR006689  
  • Prosite: PS51417
  • DIP: 47537
  • STRING: ENSP00000260746
• Other Databases: GeneCards:  ARL3  Malacards:  ARL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060271	cilium assembly	IBA	biological process
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0005525	GTP binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0019003	GDP binding	IDA	molecular function
GO:0008017	microtubule binding	IDA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005525	GTP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005929	cilium	IDA	cellular component
GO:0032391	photoreceptor connecting cilium	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0007264	small GTPase mediated signal transduction	IDA	biological process
GO:0005881	cytoplasmic microtubule	IDA	cellular component
GO:0005876	spindle microtubule	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0042461	photoreceptor cell development	ISS	biological process
GO:0001822	kidney development	ISS	biological process
GO:0006893	Golgi to plasma membrane transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000281	mitotic cytokinesis	IMP	biological process
GO:0061512	protein localization to cilium	IMP	biological process
GO:1903441	protein localization to ciliary membrane	ISS	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005525	GTP binding	TAS	molecular function
GO:0006892	post-Golgi vesicle-mediated transport	IMP	biological process
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006893	Golgi to plasma membrane transport	IEA	biological process
GO:0019003	GDP binding	IEA	molecular function
GO:0042073	intraciliary transport	IEA	biological process
GO:0042461	photoreceptor cell development	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0032794	GTPase activating protein binding	IEA	molecular function
GO:1903441	protein localization to ciliary membrane	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005929	cilium	IDA	NOT|cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq