• Gene id: 400

Gene Summary

• Gene Symbol: ARL1   Gene   UCSC   Ensembl
• Aliases: ARFL1
• Gene name: ADP ribosylation factor like GTPase 1
• Alternate names: ADP-ribosylation factor-like protein 1, ADP-ribosylation factor-like 1,
• Gene location: 12q23.2 (101407819: 101393115)     Exons: 6     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity,
• OMIM: 0

SNPs

rs12323635

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

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs7946

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

NC_000017.11   g.17506246C>T
NC_000017.10   g.17409560C>T
XM_006721418.4   c.571G>A
NM_148172.3   c.634G>A
NM_148172.2   c.634G>A
NM_007169.2   c.523G>A
NM_007169.3   c.523G>A
NM_001267552.1   c.665G>A
NM_001267552.2   c.665G>A
NM_001267551.1   c.568G>A
NM_001267551.2   c

Protein Summary

• Protein general information: P40616  
  • Name: ADP ribosylation factor like protein 1
  • Length: 181  
  • Mass: 20418
  • Tissue specificity: Detected in heart, liver, lung and liver (at protein level). Detected in fetal heart, lung, liver and kidney. Detected in adult heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MGGFFSSIFSSLFGTREMRILILGLDGAGKTTILYRLQVGEVVTTIPTIGFNVETVTYKNLKFQVWDLGGQTSIR
  PYWRCYYSNTDAVIYVVDSCDRDRIGISKSELVAMLEEEELRKAILVVFANKQDMEQAMTSSEMANSLGLPALKD
  RKWQIFKTSATKGTGLDEAMEWLVETLKSRQ

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR006689  
  • Prosite: PS51417
  • PDB: 1UPT 4DCN 5EE5 5J5C
  • PDBsum: 1UPT 4DCN 5EE5 5J5C
  • STRING: ENSP00000261636
• Other Databases: GeneCards:  ARL1  Malacards:  ARL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0048193	Golgi vesicle transport	IEA	biological process
GO:0007030	Golgi organization	IEA	biological process
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005525	GTP binding	IDA	molecular function
GO:0003924	GTPase activity	IDA	molecular function
GO:0031584	activation of phospholipase D activity	IDA	biological process
GO:0009404	toxin metabolic process	IDA	biological process
GO:0008047	enzyme activator activity	IDA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0034067	protein localization to Golgi apparatus	IMP	biological process
GO:0005802	trans-Golgi network	ISS	cellular component
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0007030	Golgi organization	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray